#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
HRNR	388697	broad.mit.edu	37	1	152188528	152188528	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152188528G>A	ENST00000368801.2	-	3	5652	c.5577C>T	c.(5575-5577)ggC>ggT	p.G1859G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1859					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCATGTCGGCCACTGCTGG	0.597																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(5575-5577)ggC>ggT		hornerin							212.0	356.0	307.0					1																	152188528		2166	4294	6460	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188528G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5577C>T	1.37:g.152188528G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G1859G	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5652	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1859					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.5577C>T	CCDS30859.1																																																																																				0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		85	890	0	0	0	1	0	85	890				
HDAC8	55869	broad.mit.edu	37	X	71787851	71787851	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:71787851A>T	ENST00000373573.3	-	4	666	c.325T>A	c.(325-327)Ttt>Att	p.F109I	HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373554.1_Missense_Mutation_p.F109I|HDAC8_ENST00000439122.2_Missense_Mutation_p.F109I|HDAC8_ENST00000373571.1_Missense_Mutation_p.F109I|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373556.3_Missense_Mutation_p.F109I|HDAC8_ENST00000373561.4_Missense_Mutation_p.F109I|HDAC8_ENST00000373560.2_Missense_Mutation_p.F109I|HDAC8_ENST00000429103.2_Intron	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	109	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	GCATAGTCAAATATCCCTTCA	0.478																																						ENST00000439122.2																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(325-327)Ttt>Att		histone deacetylase 8	Vorinostat(DB02546)						95.0	74.0	81.0					X																	71787851		2203	4300	6503	SO:0001583	missense	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71787851A>T	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.325T>A	X.37:g.71787851A>T	ENSP00000362674:p.Phe109Ile					HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.F109I|HDAC8_ENST00000373554.1_Missense_Mutation_p.F109I|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373556.3_Missense_Mutation_p.F109I|HDAC8_ENST00000373573.3_Missense_Mutation_p.F109I|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.F109I|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373560.2_Missense_Mutation_p.F109I	p.F109I	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN			4	611	-	Renal(35;0.156)		109			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	c.325T>A	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287372	0.80803	.	.	ENSG00000147099	ENST00000373573;ENST00000415409;ENST00000373571;ENST00000439122;ENST00000373560;ENST00000373561;ENST00000421523;ENST00000373556;ENST00000373554	T;T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.89	4.89	0.63831	Histone deacetylase domain (2);	0.153373	0.64402	D	0.000013	T	0.76814	0.4040	M	0.78916	2.43	0.49389	D	0.999781	P;P	0.44260	0.83;0.692	B;B	0.43916	0.436;0.27	T	0.80759	-0.1239	10	0.87932	D	0	-5.5933	11.8609	0.52465	1.0:0.0:0.0:0.0	.	109;109	B4DV22;Q9BY41	.;HDAC8_HUMAN	I	109;109;109;109;109;109;70;109;109	ENSP00000362674:F109I;ENSP00000396424:F109I;ENSP00000362672:F109I;ENSP00000414486:F109I;ENSP00000362661:F109I;ENSP00000362662:F109I;ENSP00000398997:F70I;ENSP00000362657:F109I;ENSP00000362655:F109I	ENSP00000362655:F109I	F	-	1	0	HDAC8	71704576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.079000	0.94032	1.880000	0.54463	0.441000	0.28932	TTT		0.478	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		34	64	0	0	0	1	0	34	64				
ARHGAP10	79658	broad.mit.edu	37	4	148984433	148984433	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:148984433C>T	ENST00000336498.3	+	21	2401	c.2162C>T	c.(2161-2163)gCg>gTg	p.A721V	ARHGAP10_ENST00000414545.2_Intron	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCTACTGTAGCGGACAAGCCA	0.532																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(2161-2163)gCg>gTg		Rho GTPase activating protein 10							112.0	78.0	90.0					4																	148984433		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148984433C>T	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.2162C>T	4.37:g.148984433C>T	ENSP00000336923:p.Ala721Val					ARHGAP10_ENST00000414545.2_Intron	p.A721V	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	21	2401	+	all_hematologic(180;0.151)	Renal(17;0.0166)	721					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.2162C>T	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572470	0.28092	.	.	ENSG00000071205	ENST00000336498	T	0.08984	3.03	5.56	-8.97	0.00758	Src homology-3 domain (1);	1.822510	0.02565	N	0.097176	T	0.05227	0.0139	N	0.12746	0.255	0.09310	N	0.999997	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.20306	-1.0279	10	0.19590	T	0.45	.	16.1896	0.81977	0.0:0.7755:0.0985:0.126	.	154;302;721	Q9H7G7;Q86T21;A1A4S6	.;.;RHG10_HUMAN	V	721	ENSP00000336923:A721V	ENSP00000336923:A721V	A	+	2	0	ARHGAP10	149203883	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-3.086000	0.00611	-1.785000	0.01271	-1.300000	0.01332	GCG		0.532	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		18	29	0	0	0	1	0	18	29				
E2F1	1869	broad.mit.edu	37	20	32267721	32267721	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:32267721G>A	ENST00000343380.5	-	3	551	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	138	Interaction with BIRC2/c-IAP1.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						TCCAGGAAGCGCTTGGTGGTC	0.602																																						ENST00000343380.5																			0				NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(412-414)Cgc>Tgc		E2F transcription factor 1							87.0	83.0	84.0					20																	32267721		2203	4300	6503	SO:0001583	missense	1869				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr20:32267721G>A		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.412C>T	20.37:g.32267721G>A	ENSP00000345571:p.Arg138Cys						p.R138C	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN			3	551	-			138					Q13143|Q92768	Missense_Mutation	SNP	ENST00000343380.5	37	c.412C>T	CCDS13224.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424553	0.83667	.	.	ENSG00000101412	ENST00000343380	T	0.10192	2.9	4.61	4.61	0.57282	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.40473	0.1118	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49214	-0.8963	10	0.87932	D	0	.	16.7324	0.85438	0.0:0.0:1.0:0.0	.	138	Q01094	E2F1_HUMAN	C	138	ENSP00000345571:R138C	ENSP00000345571:R138C	R	-	1	0	E2F1	31731382	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.513000	0.45494	2.550000	0.86006	0.462000	0.41574	CGC		0.602	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			32	60	0	0	0	1	0	32	60				
PTEN	5728	broad.mit.edu	37	10	89692910	89692910	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:89692910G>A	ENST00000371953.3	+	5	1751	c.394G>A	c.(394-396)Ggt>Agt	p.G132S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome). {ECO:0000269|PubMed:16752378}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132S(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGGACGAACTGGTGTAATGAT	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		57	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(5)|Substitution - Missense(3)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132S(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)	prostate(16)|central_nervous_system(13)|skin(6)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(394-396)Ggt>Agt		phosphatase and tensin homolog							137.0	128.0	131.0					10																	89692910		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692910G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.394G>A	10.37:g.89692910G>A	ENSP00000361021:p.Gly132Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G132S	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1751	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	132		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.394G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937160	0.92458	.	.	ENSG00000171862	ENST00000371953	D	0.99541	-6.12	5.22	4.3	0.51218	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97347	0.9961	9	.	.	.	-10.5526	15.1176	0.72416	0.0:0.0:0.8573:0.1427	.	132	P60484	PTEN_HUMAN	S	132	ENSP00000361021:G132S	.	G	+	1	0	PTEN	89682890	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.429000	0.97481	1.157000	0.42530	-0.182000	0.12963	GGT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		122	79	0	0	0	1	0	122	79				
RPA4	29935	broad.mit.edu	37	X	96139445	96139445	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:96139445G>A	ENST00000373040.3	+	1	539	c.136G>A	c.(136-138)Gtt>Att	p.V46I	DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	46					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						AATTCAGGACGTTGTACCGTG	0.498								Other identified genes with known or suspected DNA repair function																														ENST00000373040.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(136-138)Gtt>Att	Other identified genes with known or suspected DNA repair function	replication protein A4, 30kDa							150.0	122.0	131.0					X																	96139445		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139445G>A	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.136G>A	X.37:g.96139445G>A	ENSP00000362131:p.Val46Ile					DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron	p.V46I	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN			1	539	+			46					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.136G>A	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.664129	0.00765	.	.	ENSG00000204086	ENST00000373040	T	0.40476	1.03	3.57	-7.14	0.01527	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.09818	0.0241	N	0.00729	-1.24	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.33752	-0.9856	9	0.02654	T	1	-25.7425	10.1898	0.43019	0.1977:0.1444:0.6579:0.0	.	46	Q13156	RFA4_HUMAN	I	46	ENSP00000362131:V46I	ENSP00000362131:V46I	V	+	1	0	RPA4	96026101	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.468000	0.06656	-1.981000	0.00989	-1.203000	0.01651	GTT		0.498	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		38	40	0	0	0	1	0	38	40				
B3GNT1	11041	broad.mit.edu	37	11	66114163	66114163	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:66114163C>A	ENST00000311181.4	-	1	1000	c.854G>T	c.(853-855)cGg>cTg	p.R285L	BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	285					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						ATAGAAGGGCCGCACCTCGCC	0.632																																						ENST00000311181.4																			0				breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						c.(853-855)cGg>cTg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1							48.0	53.0	51.0					11																	66114163		2200	4295	6495	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66114163C>A	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.854G>T	11.37:g.66114163C>A	ENSP00000309096:p.Arg285Leu						p.R285L	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN			1	1000	-			285					Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.854G>T	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132771	0.56828	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.21932	1.98	5.59	3.72	0.42706	.	0.128866	0.53938	D	0.000060	T	0.19805	0.0476	L	0.50333	1.59	0.80722	D	1	P	0.38597	0.639	B	0.41510	0.359	T	0.03025	-1.1081	10	0.11485	T	0.65	-25.4424	10.0177	0.42024	0.0:0.8352:0.0:0.1648	.	285	O43505	B3GN1_HUMAN	L	285;56	ENSP00000309096:R285L	ENSP00000309096:R285L	R	-	2	0	B3GNT1	65870739	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.540000	0.60664	0.729000	0.32403	0.563000	0.77884	CGG		0.632	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		52	58	1	0	3.76525e-18	1	4.10201e-18	52	58				
GRM5	2915	broad.mit.edu	37	11	88386450	88386450	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:88386450G>A	ENST00000305447.4	-	3	1182	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	GRM5_ENST00000305432.5_Missense_Mutation_p.R345W|GRM5_ENST00000418177.2_Missense_Mutation_p.R345W|GRM5_ENST00000455756.2_Missense_Mutation_p.R345W|GRM5_ENST00000393297.1_Missense_Mutation_p.R345W	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	345					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GTTTCTGGCCGGAGCTTCAGA	0.458																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1033-1035)Cgg>Tgg		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						92.0	93.0	92.0					11																	88386450		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88386450G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1033C>T	11.37:g.88386450G>A	ENSP00000306138:p.Arg345Trp					GRM5_ENST00000455756.2_Missense_Mutation_p.R345W|GRM5_ENST00000305432.5_Missense_Mutation_p.R345W|GRM5_ENST00000393297.1_Missense_Mutation_p.R345W|GRM5_ENST00000305447.4_Missense_Mutation_p.R345W	p.R345W			P41594	GRM5_HUMAN			4	1400	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	345					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1033C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927964	0.92389	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.168413	0.53938	D	0.000049	D	0.86045	0.5839	L	0.39147	1.195	0.47441	D	0.999426	D;D	0.76494	0.998;0.999	P;P	0.57679	0.543;0.825	D	0.83734	0.0200	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	345;345	P41594-2;P41594	.;GRM5_HUMAN	W	345	ENSP00000402912:R345W;ENSP00000405690:R345W;ENSP00000305905:R345W;ENSP00000306138:R345W;ENSP00000376975:R345W	.	R	-	1	2	GRM5	88026098	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.596000	0.54024	2.789000	0.95967	0.591000	0.81541	CGG		0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		46	47	0	0	0	1	0	46	47				
UNC13C	440279	broad.mit.edu	37	15	54625988	54625988	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:54625988T>C	ENST00000260323.11	+	15	4518	c.4518T>C	c.(4516-4518)acT>acC	p.T1506T	UNC13C_ENST00000545554.1_Silent_p.T1506T|UNC13C_ENST00000537900.1_Silent_p.T1504T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1506					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAGCAATACTGAAAGACTGC	0.348																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(4516-4518)acT>acC		unc-13 homolog C (C. elegans)							124.0	116.0	119.0					15																	54625988		1843	4077	5920	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54625988T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4518T>C	15.37:g.54625988T>C						UNC13C_ENST00000260323.11_Silent_p.T1506T|UNC13C_ENST00000537900.1_Silent_p.T1504T	p.T1506T			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	15	4518	+			1506					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.4518T>C	CCDS45264.1																																																																																				0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		7	13	0	0	0	1	0	7	13				
NUAK2	81788	broad.mit.edu	37	1	205290640	205290640	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:205290640C>T	ENST00000367157.3	-	1	243	c.117G>A	c.(115-117)gcG>gcA	p.A39A		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCGCTTCACCGCCTGCTTCT	0.672																																						ENST00000367157.3																			0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(115-117)gcG>gcA		NUAK family, SNF1-like kinase, 2							53.0	54.0	53.0					1																	205290640		2203	4300	6503	SO:0001819	synonymous_variant	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205290640C>T	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.117G>A	1.37:g.205290640C>T							p.A39A	NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		1	243	-	Breast(84;0.186)		39						Silent	SNP	ENST00000367157.3	37	c.117G>A	CCDS1453.1																																																																																				0.672	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		3	45	0	0	0	1	0	3	45				
RBM41	55285	broad.mit.edu	37	X	106332030	106332030	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:106332030T>C	ENST00000372479.3	-	5	593	c.563A>G	c.(562-564)aAc>aGc	p.N188S	RBM41_ENST00000372487.1_Missense_Mutation_p.N188S|RBM41_ENST00000203616.8_Missense_Mutation_p.N212S	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	188							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ACTTTCCAGGTTGTTCATGGG	0.408																																						ENST00000372487.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(562-564)aAc>aGc		RNA binding motif protein 41							90.0	81.0	84.0					X																	106332030		2203	4300	6503	SO:0001583	missense	55285						nucleotide binding|RNA binding	g.chrX:106332030T>C	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.563A>G	X.37:g.106332030T>C	ENSP00000361557:p.Asn188Ser					RBM41_ENST00000372479.3_Missense_Mutation_p.N188S|RBM41_ENST00000203616.8_Missense_Mutation_p.N212S	p.N188S	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN			5	589	-			188					Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	ENST00000372479.3	37	c.563A>G	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789836	0.31685	.	.	ENSG00000089682	ENST00000372487;ENST00000372479;ENST00000203616	T;T	0.23552	1.9;1.94	6.07	6.07	0.98685	.	0.230651	0.45126	D	0.000387	T	0.16128	0.0388	N	0.14661	0.345	0.32017	N	0.601328	B	0.24533	0.105	B	0.15870	0.014	T	0.10359	-1.0633	10	0.54805	T	0.06	.	11.7407	0.51790	0.0:0.0:0.0:1.0	.	188	Q96IZ5	RBM41_HUMAN	S	188;188;212	ENSP00000361565:N188S;ENSP00000361557:N188S	ENSP00000203616:N212S	N	-	2	0	RBM41	106218686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.667000	0.61561	2.046000	0.60703	0.486000	0.48141	AAC		0.408	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301		31	45	0	0	0	1	0	31	45				
MKL2	57496	broad.mit.edu	37	16	14355246	14355246	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:14355246G>A	ENST00000341243.5	+	15	3212	c.3212G>A	c.(3211-3213)aGc>aAc	p.S1071N	MKL2_ENST00000318282.5_Missense_Mutation_p.S1032N|MKL2_ENST00000574045.1_Missense_Mutation_p.S1032N|MKL2_ENST00000571589.1_Missense_Mutation_p.S1082N			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	1071					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCGCGCCGAGCATGTTCTCT	0.507																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(3244-3246)aGc>aAc		MKL/myocardin-like 2							70.0	69.0	69.0					16																	14355246		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14355246G>A	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.3212G>A	16.37:g.14355246G>A	ENSP00000345841:p.Ser1071Asn					MKL2_ENST00000318282.5_Missense_Mutation_p.S1032N|MKL2_ENST00000341243.5_Missense_Mutation_p.S1071N|MKL2_ENST00000574045.1_Missense_Mutation_p.S1032N	p.S1082N	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			17	3417	+			1071					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.3245G>A		.	.	.	.	.	.	.	.	.	.	G	14.55	2.567638	0.45798	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.72	5.72	0.89469	.	0.053454	0.85682	D	0.000000	T	0.60560	0.2278	M	0.62266	1.93	0.32750	N	0.506594	P;P	0.46142	0.682;0.873	B;P	0.46452	0.326;0.517	T	0.71974	-0.4430	9	0.87932	D	0	-4.6611	18.8414	0.92186	0.0:0.0:1.0:0.0	.	1082;1032	B4DGT8;Q9ULH7-4	.;.	N	1032;1071	.	ENSP00000339086:S1032N	S	+	2	0	MKL2	14262747	0.999000	0.42202	0.044000	0.18714	0.023000	0.10783	7.048000	0.76606	2.698000	0.92095	0.591000	0.81541	AGC		0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		35	45	0	0	0	1	0	35	45				
CIT	11113	broad.mit.edu	37	12	120190012	120190012	+	Missense_Mutation	SNP	C	C	T	rs553305582		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:120190012C>T	ENST00000261833.7	-	22	2673	c.2621G>A	c.(2620-2622)cGc>cAc	p.R874H	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R916H	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	874					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTGAGCTGGCGCTTGAGCTC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		20071	0.001		0.0	False		,,,				2504	0.0					ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(2746-2748)cGc>cAc		citron (rho-interacting, serine/threonine kinase 21)							32.0	31.0	31.0					12																	120190012		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120190012C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2621G>A	12.37:g.120190012C>T	ENSP00000261833:p.Arg874His					CIT_ENST00000261833.7_Missense_Mutation_p.R874H|CIT_ENST00000537607.1_5'UTR	p.R916H	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	23	2802	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	874					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2747G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.356920|5.356920	0.95854|0.95854	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.67345	.|-0.15;-0.26	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74268|0.74268	0.3694|0.3694	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.80764	.|0.965;0.987;0.994	T|T	0.76719|0.76719	-0.2856|-0.2856	5|10	.|0.62326	.|D	.|0.03	.|.	19.4389|19.4389	0.94809|0.94809	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|916;874;407	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|H	502|916;874	.|ENSP00000376306:R916H;ENSP00000261833:R874H	.|ENSP00000261833:R874H	A|R	-|-	1|2	0|0	CIT|CIT	118674395|118674395	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	5.877000|5.877000	0.69675|0.69675	2.597000|2.597000	0.87782|0.87782	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.582	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		19	17	0	0	0	1	0	19	17				
ZNF671	79891	broad.mit.edu	37	19	58232447	58232447	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58232447G>A	ENST00000317398.6	-	4	1102	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I	AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.T238I	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCTTTCTCCAGTGTGAACTGT	0.463																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1006-1008)aCt>aTt		zinc finger protein 671							96.0	91.0	92.0					19																	58232447		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232447G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1007C>T	19.37:g.58232447G>A	ENSP00000321848:p.Thr336Ile					ZNF671_ENST00000335820.3_Missense_Mutation_p.T238I|AC003006.7_ENST00000599221.1_Intron	p.T336I	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1102	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	336					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.1007C>T	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490341	0.64074	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.25749	1.78;1.78	1.88	0.772	0.18510	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42988	0.1227	M	0.67625	2.065	0.26980	N	0.96538	D	0.76494	0.999	D	0.66979	0.948	T	0.20538	-1.0272	9	0.87932	D	0	.	8.115	0.30937	0.0:0.2535:0.7465:0.0	.	336	Q8TAW3	ZN671_HUMAN	I	336;238	ENSP00000321848:T336I;ENSP00000338670:T238I	ENSP00000321848:T336I	T	-	2	0	ZNF671	62924259	0.912000	0.30974	0.942000	0.38095	0.983000	0.72400	1.438000	0.35002	0.334000	0.23590	0.467000	0.42956	ACT		0.463	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		32	83	0	0	0	1	0	32	83				
ARVCF	421	broad.mit.edu	37	22	19959451	19959451	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:19959451G>A	ENST00000263207.3	-	18	3030	c.2739C>T	c.(2737-2739)ggC>ggT	p.G913G	ARVCF_ENST00000344269.3_Silent_p.G850G|ARVCF_ENST00000406522.1_Silent_p.G844G|ARVCF_ENST00000401994.1_Silent_p.G850G|ARVCF_ENST00000406259.1_Silent_p.G907G	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	913					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGAGCTGGCGCCCCGTGGCC	0.652																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2737-2739)ggC>ggT		armadillo repeat gene deleted in velocardiofacial syndrome							81.0	75.0	77.0					22																	19959451		2203	4300	6503	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19959451G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2739C>T	22.37:g.19959451G>A						ARVCF_ENST00000344269.3_Silent_p.G850G|ARVCF_ENST00000406522.1_Silent_p.G844G|ARVCF_ENST00000406259.1_Silent_p.G907G|ARVCF_ENST00000401994.1_Silent_p.G850G	p.G913G	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			18	3030	-	Colorectal(54;0.0993)		913					B7WNV2	Silent	SNP	ENST00000263207.3	37	c.2739C>T	CCDS13771.1																																																																																				0.652	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		22	40	0	0	0	1	0	22	40				
ERICH1	157697	broad.mit.edu	37	8	623411	623411	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:623411C>T	ENST00000262109.7	-	4	1018	c.941G>A	c.(940-942)gGt>gAt	p.G314D	ERICH1_ENST00000522706.1_Missense_Mutation_p.G220D|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	314	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GGAGTCTGCACCCTCTTCCTC	0.567																																						ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(940-942)gGt>gAt		glutamate-rich 1							139.0	140.0	140.0					8																	623411		2203	4300	6503	SO:0001583	missense	157697							g.chr8:623411C>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.941G>A	8.37:g.623411C>T	ENSP00000262109:p.Gly314Asp					ERICH1_ENST00000522706.1_Missense_Mutation_p.G220D	p.G314D	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	1018	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	314			Glu-rich.		A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.941G>A	CCDS5955.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.155|8.155	0.788254|0.788254	0.16258|0.16258	.|.	.|.	ENSG00000104714|ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109|ENST00000522893	T;T|.	0.37584|.	1.21;1.19|.	2.35|2.35	-4.71|-4.71	0.03279|0.03279	.|.	3.192880|.	0.01879|.	N|.	0.037727|.	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	P;P;P|.	0.38020|.	0.549;0.549;0.615|.	B;B;B|.	0.37144|.	0.189;0.189;0.242|.	T|T	0.34378|0.34378	-0.9831|-0.9831	10|5	0.31617|.	T|.	0.26|.	.|.	5.6751|5.6751	0.17743|0.17743	0.1843:0.5496:0.0:0.2661|0.1843:0.5496:0.0:0.2661	.|.	314;314;220|.	B4DMI5;Q86X53;E5RHA3|.	.;ERIC1_HUMAN;.|.	D|M	314;220;314|83	ENSP00000428635:G220D;ENSP00000262109:G314D|.	ENSP00000262109:G314D|.	G|V	-|-	2|1	0|0	ERICH1|ERICH1	613411|613411	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.492000|-0.492000	0.06467|0.06467	-0.830000|-0.830000	0.04262|0.04262	-0.740000|-0.740000	0.03531|0.03531	GGT|GTG		0.567	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		62	229	0	0	0	1	0	62	229				
SPTBN5	51332	broad.mit.edu	37	15	42162110	42162110	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:42162110G>A	ENST00000320955.6	-	32	6009	c.5782C>T	c.(5782-5784)Ctg>Ttg	p.L1928L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1928					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGTCGCTGCAGCACTGCCCAC	0.701																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5782-5784)Ctg>Ttg		spectrin, beta, non-erythrocytic 5							6.0	7.0	7.0					15																	42162110		2141	4216	6357	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42162110G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5782C>T	15.37:g.42162110G>A							p.L1928L	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	32	6009	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1928						Silent	SNP	ENST00000320955.6	37	c.5782C>T																																																																																					0.701	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		6	4	0	0	0	1	0	6	4				
ENPP1	5167	broad.mit.edu	37	6	132171156	132171156	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:132171156G>A	ENST00000360971.2	+	3	360	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	114	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.E62*(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCGCTGTTTCGAGAGAACATT	0.383																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			1	Substitution - Nonsense(1)	p.E62*(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(340-342)Gag>Aag		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						142.0	133.0	136.0					6																	132171156		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132171156G>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.340G>A	6.37:g.132171156G>A	ENSP00000354238:p.Glu114Lys						p.E114K	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	3	360	+	Breast(56;0.0505)		114			SMB 1.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.340G>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	32	5.132674	0.94517	.	.	ENSG00000197594	ENST00000360971	T	0.48836	0.8	5.43	5.43	0.79202	Somatomedin B domain (3);Somatomedin B, chordata (1);	0.273739	0.32190	N	0.006452	T	0.67021	0.2849	M	0.81497	2.545	0.53005	D	0.999963	D	0.89917	1.0	D	0.79784	0.993	T	0.70842	-0.4762	10	0.87932	D	0	-20.2667	18.3772	0.90439	0.0:0.0:1.0:0.0	.	114	P22413	ENPP1_HUMAN	K	114	ENSP00000354238:E114K	ENSP00000354238:E114K	E	+	1	0	ENPP1	132212849	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.347000	0.73004	2.712000	0.92718	0.650000	0.86243	GAG		0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			67	53	0	0	0	1	0	67	53				
CROCC	9696	broad.mit.edu	37	1	17292527	17292527	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:17292527C>T	ENST00000375541.5	+	29	4678	c.4609C>T	c.(4609-4611)Cgc>Tgc	p.R1537C		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCCCTGAATCGCCAGCTGGC	0.637																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(4609-4611)Cgc>Tgc		ciliary rootlet coiled-coil, rootletin							53.0	51.0	52.0					1																	17292527		2203	4300	6503	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17292527C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.4609C>T	1.37:g.17292527C>T	ENSP00000364691:p.Arg1537Cys						p.R1537C	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	29	4678	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1537						Missense_Mutation	SNP	ENST00000375541.5	37	c.4609C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144951	0.37825	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.51574	0.7	4.13	2.16	0.27623	.	.	.	.	.	T	0.49643	0.1569	L	0.44542	1.39	0.28653	N	0.906573	D;D	0.60575	0.988;0.976	P;P	0.54544	0.674;0.755	T	0.42749	-0.9433	9	0.72032	D	0.01	.	7.8219	0.29292	0.0:0.7392:0.164:0.0969	.	840;1537	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	C	1537;1418	ENSP00000364691:R1537C	ENSP00000364691:R1537C	R	+	1	0	CROCC	17165114	0.036000	0.19791	0.001000	0.08648	0.525000	0.34531	2.204000	0.42761	0.424000	0.26061	0.478000	0.44815	CGC		0.637	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		26	38	0	0	0	1	0	26	38				
CFAP58	159686	broad.mit.edu	37	10	106121801	106121801	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:106121801G>T	ENST00000369704.3	+	3	446	c.312G>T	c.(310-312)aaG>aaT	p.K104N	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		104						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGGCCTGGAAGATGGTGGACT	0.448																																						ENST00000369704.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)aaG>aaT		coiled-coil domain containing 147							100.0	92.0	95.0					10																	106121801		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106121801G>T																												ENST00000369704.3:c.312G>T	10.37:g.106121801G>T	ENSP00000358718:p.Lys104Asn					CCDC147_ENST00000312902.5_5'UTR	p.K104N	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	3	446	+		Colorectal(252;0.103)|Breast(234;0.122)	104					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.312G>T	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908709	0.72868	.	.	ENSG00000120051	ENST00000369704	T	0.37915	1.17	6.17	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	M	0.85373	2.75	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.57802	-0.7748	10	0.17832	T	0.49	-36.0124	7.0949	0.25305	0.284:0.0:0.716:0.0	.	104	Q5T655	CC147_HUMAN	N	104	ENSP00000358718:K104N	ENSP00000358718:K104N	K	+	3	2	CCDC147	106111791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.923000	0.56469	1.627000	0.50400	0.655000	0.94253	AAG		0.448	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			42	26	1	0	3.77016e-25	1	4.20665e-25	42	26				
NUB1	51667	broad.mit.edu	37	7	151046250	151046250	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:151046250G>A	ENST00000355851.4	+	3	286	c.209G>A	c.(208-210)cGt>cAt	p.R70H	NUB1_ENST00000566856.1_Missense_Mutation_p.R70H|NUB1_ENST00000568733.1_Missense_Mutation_p.R94H|NUB1_ENST00000413040.2_Missense_Mutation_p.R94H	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	70					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCAATTGAGCGTGGAACAGGA	0.373																																						ENST00000568733.1																			0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(280-282)cGt>cAt		negative regulator of ubiquitin-like proteins 1							126.0	123.0	124.0					7																	151046250		1858	4106	5964	SO:0001583	missense	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151046250G>A	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.209G>A	7.37:g.151046250G>A	ENSP00000348110:p.Arg70His					NUB1_ENST00000566856.1_Missense_Mutation_p.R70H|NUB1_ENST00000413040.2_Missense_Mutation_p.R94H|NUB1_ENST00000355851.4_Missense_Mutation_p.R70H	p.R94H			Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	3	347	+			70					O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37	c.281G>A		.	.	.	.	.	.	.	.	.	.	G	29.4	5.001214	0.93227	.	.	ENSG00000013374	ENST00000413040;ENST00000355851;ENST00000470229;ENST00000490215;ENST00000483358	T;T;T	0.49139	0.79;0.79;0.79	5.95	5.95	0.96441	.	0.049460	0.85682	D	0.000000	T	0.68686	0.3028	M	0.67953	2.075	0.53005	D	0.999968	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.964;0.984	T	0.69573	-0.5109	10	0.87932	D	0	-14.0334	17.887	0.88858	0.0:0.0:1.0:0.0	.	70;70;70	F8WDL9;Q9Y5A7;Q9Y5A7-2	.;NUB1_HUMAN;.	H	70	ENSP00000348110:R70H;ENSP00000418234:R70H;ENSP00000420086:R70H	ENSP00000348110:R70H	R	+	2	0	NUB1	150677183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.741000	0.68638	2.824000	0.97209	0.655000	0.94253	CGT		0.373	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		38	56	0	0	0	1	0	38	56				
CFHR1	3078	broad.mit.edu	37	1	196799690	196799690	+	Missense_Mutation	SNP	C	C	T	rs376987946		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:196799690C>T	ENST00000320493.5	+	5	756	c.668C>T	c.(667-669)cCg>cTg	p.P223L	CFHR1_ENST00000367424.4_Missense_Mutation_p.P164L|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	223	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ACTTCATTCCCGTTGTCAGTA	0.413																																						ENST00000320493.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(667-669)cCg>cTg		complement factor H-related 1		C	LEU/PRO	0,3712		0,0,1856	72.0	86.0	81.0		668	3.1	0.0	1		81	2,8244		1,0,4122	no	missense	CFHR1	NM_002113.2	98	1,0,5978	TT,TC,CC		0.0243,0.0,0.0167	possibly-damaging	223/331	196799690	2,11956	1856	4123	5979	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196799690C>T	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.668C>T	1.37:g.196799690C>T	ENSP00000314299:p.Pro223Leu					CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.P164L	p.P223L	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN			5	756	+			223			Sushi 4.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.668C>T	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	7.264	0.605739	0.14002	0.0	2.43E-4	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.63580	-0.05;-0.05	4.03	3.1	0.35709	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.57242	0.2040	L	0.50919	1.6	0.09310	N	0.999998	B;D	0.57899	0.421;0.981	B;P	0.51355	0.065;0.667	T	0.47355	-0.9124	9	0.07813	T	0.8	.	6.6837	0.23134	0.0:0.8674:0.0:0.1326	.	223;1124	Q03591;A8K5T0	FHR1_HUMAN;.	L	164;223	ENSP00000356394:P164L;ENSP00000314299:P223L	ENSP00000314299:P223L	P	+	2	0	CFHR1	195066313	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.357000	0.07651	1.754000	0.51921	0.406000	0.27484	CCG		0.413	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		57	8	0	0	0	1	0	57	8				
OBSCN	84033	broad.mit.edu	37	1	228474715	228474715	+	Silent	SNP	C	C	T	rs201932883	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:228474715C>T	ENST00000422127.1	+	35	9563	c.9519C>T	c.(9517-9519)tgC>tgT	p.C3173C	OBSCN_ENST00000366709.4_Silent_p.C292C|OBSCN_ENST00000570156.2_Silent_p.C3602C|OBSCN_ENST00000359599.6_Silent_p.C2020C|OBSCN_ENST00000366707.4_Silent_p.C292C|OBSCN_ENST00000284548.11_Silent_p.C3173C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3173	Ig-like 31.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCGCCTGCAGCAGCTCCA	0.652													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		16656	0.0		0.0	False		,,,				2504	0.0					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(10804-10806)tgC>tgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	,	0,4016		0,0,2008	9.0	12.0	11.0		9519,9519	-1.7	0.6	1		11	3,8339		0,3,4168	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,3,6176	TT,TC,CC		0.036,0.0,0.0243	,	3173/7969,3173/6621	228474715	3,12355	2008	4171	6179	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228474715C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9519C>T	1.37:g.228474715C>T						OBSCN_ENST00000366709.4_Silent_p.C292C|OBSCN_ENST00000284548.11_Silent_p.C3173C|OBSCN_ENST00000359599.6_Silent_p.C2020C|OBSCN_ENST00000422127.1_Silent_p.C3173C|OBSCN_ENST00000366707.4_Silent_p.C292C	p.C3602C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			40	10880	+		Prostate(94;0.0405)	2635			Ig-like 36.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.10806C>T	CCDS58065.1																																																																																				0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	9	0	0	0	1	0	3	9				
DNAH3	55567	broad.mit.edu	37	16	20974801	20974801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:20974801C>A	ENST00000261383.3	-	53	10404	c.10405G>T	c.(10405-10407)Gga>Tga	p.G3469*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3469					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCTCCAATCCTTGAGAGAAC	0.512																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10405-10407)Gga>Tga		dynein, axonemal, heavy chain 3							90.0	74.0	80.0					16																	20974801		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20974801C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10405G>T	16.37:g.20974801C>A	ENSP00000261383:p.Gly3469*					DNAH3_ENST00000415178.1_3'UTR	p.G3469*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10404	-			3469					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.10405G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	49	15.176001	0.99825	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.39	3.39	0.38822	.	0.203178	0.41712	D	0.000824	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	12.1126	0.53848	0.0:0.8577:0.0:0.1423	.	.	.	.	X	3469	.	ENSP00000261383:G3469X	G	-	1	0	DNAH3	20882302	0.399000	0.25287	0.025000	0.17156	0.200000	0.23975	3.203000	0.51075	0.613000	0.30089	0.563000	0.77884	GGA		0.512	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		18	29	1	0	1.67942e-08	1	1.76178e-08	18	29				
COBL	23242	broad.mit.edu	37	7	51258732	51258732	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:51258732G>T	ENST00000265136.7	-	4	665	c.500C>A	c.(499-501)gCt>gAt	p.A167D	COBL_ENST00000441453.1_Missense_Mutation_p.A167D|COBL_ENST00000395542.2_Missense_Mutation_p.A167D|COBL_ENST00000395540.2_Missense_Mutation_p.A167D	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	167					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACGCACAACAGCTTTTTGTGT	0.488																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(499-501)gCt>gAt		cordon-bleu WH2 repeat protein							54.0	51.0	52.0					7																	51258732		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51258732G>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.500C>A	7.37:g.51258732G>T	ENSP00000265136:p.Ala167Asp					COBL_ENST00000395540.2_Missense_Mutation_p.A167D|COBL_ENST00000265136.7_Missense_Mutation_p.A167D|COBL_ENST00000441453.1_Missense_Mutation_p.A167D	p.A167D			O75128	COBL_HUMAN			4	684	-	Glioma(55;0.08)		167					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.500C>A	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.090746|5.090746	0.94149|0.94149	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281|ENST00000452534	T;T;T;T;T|.	0.42513|.	0.97;1.96;0.97;0.97;0.97|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Cordon-bleu domain (1);|.	0.163605|.	0.29233|.	N|.	0.012751|.	T|T	0.76248|0.76248	0.3961|0.3961	M|M	0.71581|0.71581	2.175|2.175	0.51012|0.51012	D|D	0.999906|0.999906	D;D;D;D;D|.	0.89917|.	1.0;0.974;1.0;0.999;1.0|.	D;P;D;D;D|.	0.91635|.	0.992;0.865;0.999;0.992;0.989|.	T|T	0.74176|0.74176	-0.3750|-0.3750	10|5	0.59425|.	D|.	0.04|.	.|.	18.9893|18.9893	0.92784|0.92784	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167;167;167;167;167|.	O75128-3;O75128-5;O75128-7;O75128;O75128-2|.	.;.;.;COBL_HUMAN;.|.	D|R	167;34;167;167;167;151|85	ENSP00000265136:A167D;ENSP00000401204:A34D;ENSP00000378912:A167D;ENSP00000378910:A167D;ENSP00000399500:A167D|.	ENSP00000265136:A167D|.	A|S	-|-	2|3	0|2	COBL|COBL	51226226|51226226	1.000000|1.000000	0.71417|0.71417	0.438000|0.438000	0.26821|0.26821	0.981000|0.981000	0.71138|0.71138	9.650000|9.650000	0.98490|0.98490	2.735000|2.735000	0.93741|0.93741	0.557000|0.557000	0.71058|0.71058	GCT|AGC		0.488	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		8	30	1	0	0.000442599	1	0.000448739	8	30				
KMT2C	58508	broad.mit.edu	37	7	152055715	152055715	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:152055715C>T	ENST00000262189.6	-	2	425	c.207G>A	c.(205-207)atG>atA	p.M69I	KMT2C_ENST00000355193.2_Missense_Mutation_p.M69I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	69					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCAGCCCATCCATGCTGTCCT	0.348																																						ENST00000355193.2																			0											c.(205-207)atG>atA		lysine (K)-specific methyltransferase 2C							246.0	226.0	233.0					7																	152055715		2203	4300	6503	SO:0001583	missense	58508							g.chr7:152055715C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.207G>A	7.37:g.152055715C>T	ENSP00000262189:p.Met69Ile					KMT2C_ENST00000262189.6_Missense_Mutation_p.M69I	p.M69I							2	425	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.207G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988844	0.53934	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000452749	D;D	0.84370	-1.84;-1.84	5.21	5.21	0.72293	.	0.112130	0.38605	N	0.001640	T	0.78407	0.4278	L	0.29908	0.895	0.80722	D	1	B	0.27498	0.18	B	0.19946	0.027	T	0.75033	-0.3460	10	0.37606	T	0.19	.	17.5194	0.87783	0.0:1.0:0.0:0.0	.	69	Q8NEZ4	MLL3_HUMAN	I	69	ENSP00000262189:M69I;ENSP00000347325:M69I	ENSP00000262189:M69I	M	-	3	0	MLL3	151686648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.769000	0.55303	2.443000	0.82685	0.650000	0.86243	ATG		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			65	105	0	0	0	1	0	65	105				
DNASE2B	58511	broad.mit.edu	37	1	84880445	84880445	+	Missense_Mutation	SNP	G	G	A	rs145614783	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:84880445G>A	ENST00000370665.3	+	6	1013	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	DNASE2B_ENST00000370662.3_Missense_Mutation_p.R119Q	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	327					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GACCTAAATCGGAGTCCACAC	0.403																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(979-981)cGg>cAg		deoxyribonuclease II beta		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	54.0	55.0		980,356	5.3	1.0	1	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	DNASE2B	NM_021233.2,NM_058248.1	43,43	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	327/362,119/154	84880445	3,13003	2203	4300	6503	SO:0001583	missense	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880445G>A	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.980G>A	1.37:g.84880445G>A	ENSP00000359699:p.Arg327Gln					DNASE2B_ENST00000370662.3_Missense_Mutation_p.R119Q	p.R327Q	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	1013	+			327					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	c.980G>A	CCDS44167.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233991	0.79688	2.27E-4	2.33E-4	ENSG00000137976	ENST00000370665;ENST00000370662	T;T	0.18960	2.18;2.18	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59495	-0.7444	10	0.62326	D	0.03	-2.5616	13.3834	0.60783	0.0752:0.0:0.9248:0.0	.	327	Q8WZ79	DNS2B_HUMAN	Q	327;119	ENSP00000359699:R327Q;ENSP00000359696:R119Q	ENSP00000359696:R119Q	R	+	2	0	DNASE2B	84653033	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	6.066000	0.71185	2.739000	0.93911	0.655000	0.94253	CGG		0.403	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		33	32	0	0	0	1	0	33	32				
SYNE1	23345	broad.mit.edu	37	6	152738148	152738148	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:152738148G>T	ENST00000367255.5	-	41	6025	c.5424C>A	c.(5422-5424)gaC>gaA	p.D1808E	SYNE1_ENST00000423061.1_Missense_Mutation_p.D1815E|SYNE1_ENST00000341594.5_Missense_Mutation_p.D1845E|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1808E|SYNE1_ENST00000448038.1_Missense_Mutation_p.D1815E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1808					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTGCGTGGTCCTGGAAGG	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(5422-5424)gaC>gaA		spectrin repeat containing, nuclear envelope 1							83.0	83.0	83.0					6																	152738148		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152738148G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5424C>A	6.37:g.152738148G>T	ENSP00000356224:p.Asp1808Glu	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.D1815E|SYNE1_ENST00000423061.1_Missense_Mutation_p.D1815E|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1808E|SYNE1_ENST00000341594.5_Missense_Mutation_p.D1845E	p.D1808E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6025	-		Ovarian(120;0.0955)	1808					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5424C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848690	0.32699	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	6.16	3.46	0.39613	.	0.172347	0.40818	N	0.001012	T	0.04092	0.0114	N	0.24115	0.695	0.80722	D	1	P;B;B;B	0.40731	0.728;0.013;0.013;0.024	B;B;B;B	0.28849	0.095;0.004;0.004;0.011	T	0.20505	-1.0273	10	0.02654	T	1	.	7.2247	0.26007	0.1936:0.0:0.6848:0.1216	.	1791;1808;1808;1815	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	1808;1815;1808;1815;1845	ENSP00000356224:D1808E;ENSP00000396024:D1815E;ENSP00000265368:D1808E;ENSP00000390975:D1815E;ENSP00000341887:D1845E	ENSP00000265368:D1808E	D	-	3	2	SYNE1	152779841	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	1.185000	0.32065	0.950000	0.37743	0.650000	0.86243	GAC		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		95	66	1	0	2.56585e-57	1	2.91483e-57	95	66				
LINC00969	440993	broad.mit.edu	37	3	195395468	195395468	+	lincRNA	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:195395468G>A	ENST00000445430.1	+	0	875									long intergenic non-protein coding RNA 969																		ACCAGGGCAGGCCTTCCTTGC	0.612																																						ENST00000445430.1																			0																																																			0							g.chr3:195395468G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395468G>A														0	875	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.612	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	15	0	0	0	1	0	4	15				
PSEN1	5663	broad.mit.edu	37	14	73637521	73637521	+	Missense_Mutation	SNP	G	G	A	rs63750592	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:73637521G>A	ENST00000324501.5	+	4	376	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	PSEN1_ENST00000394164.1_Missense_Mutation_p.R31Q|PSEN1_ENST00000394157.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000357710.4_Missense_Mutation_p.R31Q|PSEN1_ENST00000344094.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000557511.1_Missense_Mutation_p.R35Q|PSEN1_ENST00000553447.2_3'UTR|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000261970.3_Missense_Mutation_p.R35Q	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	35					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		AATAGAGAACGGCAGGAGCAC	0.478																																						ENST00000324501.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18	GRCh37	CM004059	PSEN1	M	rs63750592	c.(103-105)cGg>cAg		presenilin 1		G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	44.0	46.0	45.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	104,92	3.1	0.9	14	dbSNP_130	45	3,8597	3.7+/-12.6	0,3,4297	yes	missense,missense	PSEN1	NM_000021.3,NM_007318.2	43,43	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	benign,benign	35/468,31/464	73637521	5,13001	2203	4300	6503	SO:0001583	missense	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73637521G>A	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.104G>A	14.37:g.73637521G>A	ENSP00000326366:p.Arg35Gln					PSEN1_ENST00000394164.1_Missense_Mutation_p.R31Q|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000557511.1_Missense_Mutation_p.R35Q|PSEN1_ENST00000344094.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000261970.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000394157.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000357710.4_Missense_Mutation_p.R31Q|PSEN1_ENST00000553447.2_3'UTR	p.R35Q	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	4	376	+			35					B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.104G>A	CCDS9812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.524|8.524	0.869398|0.869398	0.17322|0.17322	4.54E-4|4.54E-4	3.49E-4|3.49E-4	ENSG00000080815|ENSG00000080815	ENST00000553447|ENST00000557356;ENST00000556864;ENST00000556533;ENST00000556951;ENST00000557293;ENST00000553719;ENST00000553599;ENST00000394157;ENST00000324501;ENST00000357710;ENST00000555254;ENST00000261970;ENST00000344094;ENST00000554131;ENST00000557037;ENST00000394164;ENST00000556066;ENST00000557511	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.99591	.|-5.36;-3.23;-3.06;-3.38;-5.69;-3.23;-6.24;-6.05;-6.04;-5.8;-6.04;-5.82;-3.78;-6.04;-6.04	4.91|4.91	3.09|3.09	0.35607|0.35607	.|.	.|0.280726	.|0.32444	.|N	.|0.006082	D|D	0.96558|0.96558	0.8877|0.8877	N|N	0.08118|0.08118	0|0	0.37907|0.37907	D|D	0.93122|0.93122	.|B;B;B	.|0.18166	.|0.026;0.0;0.024	.|B;B;B	.|0.12837	.|0.003;0.0;0.008	D|D	0.94911|0.94911	0.8065|0.8065	5|10	.|0.13108	.|T	.|0.6	-4.115|-4.115	9.1901|9.1901	0.37193|0.37193	0.1657:0.0:0.8343:0.0|0.1657:0.0:0.8343:0.0	rs63750592|rs63750592	.|31;35;35	.|P49768-2;P49768;P49768-4	.|.;PSN1_HUMAN;.	S|Q	74|31;31;31;31;35;31;31;35;35;31;35;35;35;35;31;31;31;35	.|ENSP00000451498:R31Q;ENSP00000452128:R31Q;ENSP00000450551:R31Q;ENSP00000451880:R35Q;ENSP00000451674:R31Q;ENSP00000452477:R31Q;ENSP00000377712:R35Q;ENSP00000326366:R35Q;ENSP00000350342:R31Q;ENSP00000450652:R35Q;ENSP00000261970:R35Q;ENSP00000339523:R35Q;ENSP00000451915:R35Q;ENSP00000377719:R31Q;ENSP00000451429:R35Q	.|ENSP00000261970:R35Q	G|R	+|+	1|2	0|0	PSEN1|PSEN1	72707274|72707274	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.551000|0.551000	0.35334|0.35334	3.740000|3.740000	0.55082|0.55082	0.664000|0.664000	0.31047|0.31047	-0.253000|-0.253000	0.11424|0.11424	GGC|CGG		0.478	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			8	25	0	0	0	1	0	8	25				
SLC25A42	284439	broad.mit.edu	37	19	19218753	19218753	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:19218753T>C	ENST00000318596.7	+	7	699	c.548T>C	c.(547-549)cTg>cCg	p.L183P	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	183					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GAAGAGGGGCTGAAGACTCTC	0.562																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(547-549)cTg>cCg		solute carrier family 25, member 42							115.0	102.0	106.0					19																	19218753		2203	4300	6503	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19218753T>C		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.548T>C	19.37:g.19218753T>C	ENSP00000326693:p.Leu183Pro					SLC25A42_ENST00000600275.1_3'UTR	p.L183P	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		7	699	+			183					D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.548T>C	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503781	0.44558	.	.	ENSG00000181035	ENST00000318596	T	0.80738	-1.41	5.26	5.26	0.73747	Mitochondrial carrier domain (2);	0.073354	0.56097	D	0.000031	T	0.70116	0.3187	N	0.17631	0.505	0.80722	D	1	B	0.14012	0.009	B	0.21151	0.033	T	0.66814	-0.5828	10	0.49607	T	0.09	-11.0862	14.3496	0.66691	0.0:0.0:0.0:1.0	.	183	Q86VD7	S2542_HUMAN	P	183	ENSP00000326693:L183P	ENSP00000326693:L183P	L	+	2	0	SLC25A42	19079753	1.000000	0.71417	0.798000	0.32154	0.710000	0.40934	6.724000	0.74747	1.982000	0.57802	0.402000	0.26972	CTG		0.562	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		118	88	0	0	0	1	0	118	88				
ARL16	339231	broad.mit.edu	37	17	79650090	79650090	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:79650090T>C	ENST00000397498.4	-	3	357	c.259A>G	c.(259-261)Atg>Gtg	p.M87V	HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000573392.1_Intron|ARL16_ENST00000574938.1_Intron|ARL16_ENST00000576135.1_Start_Codon_SNP_p.M1V|ARL16_ENST00000570561.1_Start_Codon_SNP_p.M1V	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	87					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATGGGGCCCATGCACCCCCCA	0.488																																						ENST00000397498.4																			0				central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7						c.(259-261)Atg>Gtg		ADP-ribosylation factor-like 16							150.0	163.0	159.0					17																	79650090		1937	4123	6060	SO:0001583	missense	339231						GTP binding	g.chr17:79650090T>C		CCDS45813.1	17q25.3	2014-05-09				ENSG00000214087		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	27902	protein-coding gene	gene with protein product						12477932	Standard	NM_001040025		Approved		uc002kbf.3	Q0P5N6		ENST00000397498.4:c.259A>G	17.37:g.79650090T>C	ENSP00000380635:p.Met87Val					ARL16_ENST00000573392.1_Intron|ARL16_ENST00000574938.1_Intron|ARL16_ENST00000576135.1_Start_Codon_SNP_p.M1V|ARL16_ENST00000570561.1_Start_Codon_SNP_p.M1V	p.M87V	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		3	357	-	all_neural(118;0.0878)|all_lung(278;0.23)		87						Missense_Mutation	SNP	ENST00000397498.4	37	c.259A>G	CCDS45813.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.904511	0.72868	.	.	ENSG00000214087	ENST00000397498	T	0.60920	0.15	4.91	3.8	0.43715	.	0.000000	0.85682	U	0.000000	T	0.69708	0.3141	M	0.64080	1.96	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.69480	-0.5134	10	0.87932	D	0	-21.8206	8.4977	0.33138	0.1732:0.0:0.0:0.8268	.	87	Q0P5N6	ARL16_HUMAN	V	87	ENSP00000380635:M87V	ENSP00000380635:M87V	M	-	1	0	ARL16	77260495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.632000	0.61311	0.670000	0.31165	0.460000	0.39030	ATG		0.488	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440514.1	XM_290777		22	207	0	0	0	1	0	22	207				
APLP1	333	broad.mit.edu	37	19	36365461	36365461	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:36365461G>A	ENST00000221891.4	+	9	1304	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	APLP1_ENST00000586861.1_Missense_Mutation_p.R365H|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.R332H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	371					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCGACAGCGCCTGGTGGAA	0.652																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1111-1113)cGc>cAc		amyloid beta (A4) precursor-like protein 1							69.0	73.0	71.0					19																	36365461		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36365461G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1112G>A	19.37:g.36365461G>A	ENSP00000221891:p.Arg371His					APLP1_ENST00000586861.1_Missense_Mutation_p.R365H|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.R332H	p.R371H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	1304	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		371					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1112G>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977718	0.92982	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.51071	0.72;0.72	4.51	4.51	0.55191	Amyloidogenic glycoprotein, E2 domain (2);	0.139520	0.33496	N	0.004860	T	0.63283	0.2498	L	0.60455	1.87	0.58432	D	0.999998	D;D;D;D	0.89917	0.993;0.99;1.0;1.0	P;P;D;D	0.66716	0.722;0.75;0.91;0.946	T	0.67726	-0.5596	10	0.87932	D	0	-10.9544	14.718	0.69284	0.0:0.0:1.0:0.0	.	365;332;371;371	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	H	332;371	ENSP00000441501:R332H;ENSP00000221891:R371H	ENSP00000221891:R371H	R	+	2	0	APLP1	41057301	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.399000	0.52586	2.058000	0.61347	0.555000	0.69702	CGC		0.652	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		75	86	0	0	0	1	0	75	86				
CCDC144A	9720	broad.mit.edu	37	17	16593988	16593988	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:16593988G>A	ENST00000360524.8	+	1	350	c.274G>A	c.(274-276)Gac>Aac	p.D92N	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000443444.2_Missense_Mutation_p.D92N|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D92N|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D92N|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D92N|RNU6-405P_ENST00000516637.1_RNA|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D92N	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	92																	CCGGTCGGGCGACGTCCCTGG	0.642																																						ENST00000443444.2																			0											c.(274-276)Gac>Aac		coiled-coil domain containing 144A							105.0	115.0	111.0					17																	16593988		2203	4300	6503	SO:0001583	missense	9720							g.chr17:16593988G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.274G>A	17.37:g.16593988G>A	ENSP00000353717:p.Asp92Asn					CCDC144A_ENST00000360524.8_Missense_Mutation_p.D92N|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D92N|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D92N|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D92N|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D92N	p.D92N			A2RUR9	C144A_HUMAN			1	414	+			92					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.274G>A	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	7.191	0.591459	0.13812	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	0.542	-1.08	0.09936	.	.	.	.	.	T	0.10337	0.0253	L	0.29908	0.895	0.09310	N	1	P	0.36837	0.571	B	0.21360	0.034	T	0.30650	-0.9971	8	0.10636	T	0.68	.	.	.	.	.	92	A2RUR9	C144A_HUMAN	N	92	ENSP00000344740:D92N;ENSP00000382215:D92N;ENSP00000439262:D92N;ENSP00000440655:D92N;ENSP00000353717:D92N;ENSP00000394201:D92N;ENSP00000353685:D92N	ENSP00000344740:D92N	D	+	1	0	CCDC144A	16534713	0.638000	0.27225	0.001000	0.08648	0.009000	0.06853	-0.873000	0.04214	-0.490000	0.06707	-0.507000	0.04495	GAC		0.642	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			94	141	0	0	0	1	0	94	141				
AP1G2	8906	broad.mit.edu	37	14	24033540	24033540	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:24033540A>G	ENST00000308724.5	-	9	1733		c.e9+1		AP1G2_ENST00000397120.3_Splice_Site|AP1G2_ENST00000556277.1_5'Flank|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGGGACTATTACCTAATGTTC	0.512																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.e9+1		adaptor-related protein complex 1, gamma 2 subunit							147.0	116.0	127.0					14																	24033540		2203	4300	6503	SO:0001630	splice_region_variant	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24033540A>G	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.977+1T>C	14.37:g.24033540A>G						AP1G2_ENST00000397120.3_Splice_Site|RP11-66N24.3_ENST00000555968.1_RNA		NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	9	1733	-	all_cancers(95;0.000251)							D3DS51|O75504	Splice_Site	SNP	ENST00000308724.5	37		CCDS9602.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447324	0.63178	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7655	0.51928	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP1G2	23103380	1.000000	0.71417	0.998000	0.56505	0.830000	0.47004	7.795000	0.85887	1.872000	0.54250	0.455000	0.32223	.		0.512	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917	Intron	30	42	0	0	0	1	0	30	42				
NOC2L	26155	broad.mit.edu	37	1	892379	892379	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:892379C>T	ENST00000327044.6	-	4	430	c.381G>A	c.(379-381)gcG>gcA	p.A127A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	127					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCCTTCCTCCGCTCCATCCT	0.582																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(379-381)gcG>gcA		nucleolar complex associated 2 homolog (S. cerevisiae)							126.0	130.0	129.0					1																	892379		2203	4300	6503	SO:0001819	synonymous_variant	26155					nucleolus	protein binding	g.chr1:892379C>T	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.381G>A	1.37:g.892379C>T						NOC2L_ENST00000487214.1_5'UTR	p.A127A	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	430	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	127					Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	c.381G>A	CCDS3.1																																																																																				0.582	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		79	103	0	0	0	1	0	79	103				
GPR124	25960	broad.mit.edu	37	8	37693106	37693106	+	Missense_Mutation	SNP	C	C	T	rs370919357		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:37693106C>T	ENST00000412232.2	+	13	1881	c.1868C>T	c.(1867-1869)cCg>cTg	p.P623L	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	623					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CAGCTGCCCCCGAGTCTATTC	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12429	0.0		0.0	False		,,,				2504	0.0					ENST00000412232.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1867-1869)cCg>cTg		G protein-coupled receptor 124		C	LEU/PRO	0,4406		0,0,2203	77.0	93.0	87.0		1868	5.3	1.0	8		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR124	NM_032777.9	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	623/1339	37693106	1,13005	2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693106C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1868C>T	8.37:g.37693106C>T	ENSP00000406367:p.Pro623Leu					GPR124_ENST00000315215.7_Intron	p.P623L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		13	1881	+			623					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1868C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106064	0.77096	0.0	1.16E-4	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.57595	0.39	5.29	5.29	0.74685	.	0.201328	0.43579	D	0.000547	T	0.50222	0.1603	L	0.59436	1.845	0.80722	D	1	P	0.40681	0.727	B	0.33960	0.173	T	0.58792	-0.7574	10	0.62326	D	0.03	-27.3238	18.9399	0.92601	0.0:1.0:0.0:0.0	.	623	Q96PE1	GP124_HUMAN	L	616;623	ENSP00000406367:P623L	ENSP00000406367:P623L	P	+	2	0	GPR124	37812264	0.998000	0.40836	1.000000	0.80357	0.748000	0.42578	2.875000	0.48491	2.497000	0.84241	0.655000	0.94253	CCG		0.647	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			82	298	0	0	0	1	0	82	298				
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:70993145A>G	ENST00000396396.1	+	2	521	c.292A>G	c.(292-294)Atc>Gtc	p.I98V	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.I98V	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.I98V(3)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAGAATGGCATCTTGTCGAC	0.478																																						ENST00000396396.1																			3	Substitution - Missense(3)	p.I98V(3)	endometrium(3)	endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(292-294)Atc>Gtc		phosphoglucomutase 5							35.0	38.0	37.0					9																	70993145		2198	4289	6487	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70993145A>G	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.292A>G	9.37:g.70993145A>G	ENSP00000379678:p.Ile98Val					PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.I98V	p.I98V	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			2	521	+			98					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.292A>G	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	14.68	2.608357	0.46527	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.62498	0.02;0.02;0.02	4.37	4.37	0.52481	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.137251	0.48286	U	0.000197	T	0.73853	0.3640	M	0.88310	2.945	0.45502	D	0.998467	B	0.31227	0.314	P	0.45167	0.472	T	0.76953	-0.2768	10	0.72032	D	0.01	.	8.4592	0.32917	0.8259:0.0:0.0:0.1741	.	98	Q15124	PGM5_HUMAN	V	98;98;98;64	ENSP00000379678:I98V;ENSP00000379674:I98V;ENSP00000394864:I64V	ENSP00000366531:I98V	I	+	1	0	PGM5	70182965	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.606000	0.61126	1.730000	0.51580	0.445000	0.29226	ATC		0.478	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		5	70	0	0	0	1	0	5	70				
EHF	26298	broad.mit.edu	37	11	34668216	34668216	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:34668216C>T	ENST00000533754.1	+	3	545	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	EHF_ENST00000450654.2_Missense_Mutation_p.H110Y|EHF_ENST00000527935.1_Missense_Mutation_p.H110Y|EHF_ENST00000530286.1_Missense_Mutation_p.H110Y|EHF_ENST00000531728.1_Missense_Mutation_p.H110Y|EHF_ENST00000257831.3_Missense_Mutation_p.H110Y|EHF_ENST00000531794.1_Missense_Mutation_p.H132Y					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CAACTTGCAGCATCTGAAGTG	0.552																																						ENST00000257831.3																		NFIA/EHF(2)	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(328-330)Cat>Tat		ets homologous factor							109.0	108.0	108.0					11																	34668216		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34668216C>T	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.328C>T	11.37:g.34668216C>T	ENSP00000435837:p.His110Tyr					EHF_ENST00000530286.1_Missense_Mutation_p.H110Y|EHF_ENST00000531728.1_Missense_Mutation_p.H110Y|EHF_ENST00000527935.1_Missense_Mutation_p.H110Y|EHF_ENST00000531794.1_Missense_Mutation_p.H132Y|EHF_ENST00000533754.1_Missense_Mutation_p.H110Y|EHF_ENST00000450654.2_Missense_Mutation_p.H110Y	p.H110Y	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		3	449	+		all_hematologic(20;0.117)	110			PNT.			Missense_Mutation	SNP	ENST00000533754.1	37	c.328C>T	CCDS7894.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987820	0.74589	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000529527;ENST00000531728;ENST00000525253;ENST00000531794;ENST00000532302;ENST00000527935	T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.24	5.24	0.73138	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.324406	0.36740	N	0.002440	T	0.27134	0.0665	N	0.02539	-0.55	0.44030	D	0.99675	D;D;D	0.56521	0.976;0.962;0.969	P;D;P	0.66716	0.665;0.946;0.665	T	0.36040	-0.9764	9	.	.	.	.	13.7639	0.62983	0.1535:0.8465:0.0:0.0	.	132;110;110	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	Y	110;110;110;110;110;110;110;132;110;110	ENSP00000257831:H110Y;ENSP00000399733:H110Y;ENSP00000433508:H110Y;ENSP00000435837:H110Y;ENSP00000432905:H110Y;ENSP00000436357:H110Y;ENSP00000434395:H110Y;ENSP00000435835:H132Y;ENSP00000432460:H110Y;ENSP00000436158:H110Y	.	H	+	1	0	EHF	34624792	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.698000	0.61789	2.454000	0.82982	0.555000	0.69702	CAT		0.552	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		97	140	0	0	0	1	0	97	140				
MYLK	4638	broad.mit.edu	37	3	123348433	123348433	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:123348433C>T	ENST00000475616.1	-	27	5001	c.5002G>A	c.(5002-5004)Gaa>Aaa	p.E1668K	MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.E1599K|MYLK_ENST00000360304.3_Missense_Mutation_p.E1668K|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000359169.1_Intron|MYLK_ENST00000354792.5_Missense_Mutation_p.E468K|MYLK_ENST00000360772.3_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	1668	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCCAAGGTTTCGTTATCGTTG	0.557																																						ENST00000360304.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5002-5004)Gaa>Aaa		myosin light chain kinase							175.0	146.0	156.0					3																	123348433		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123348433C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5002G>A	3.37:g.123348433C>T	ENSP00000418335:p.Glu1668Lys					MYLK_ENST00000359169.1_Intron|MYLK_ENST00000360772.3_Intron|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.E468K|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.E1599K|MYLK_ENST00000475616.1_Missense_Mutation_p.E1668K|MYLK-AS1_ENST00000470449.1_RNA	p.E1668K	NM_053025.3	NP_444253.3	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	30	5283	-		Lung NSC(201;0.0496)	1668			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.5002G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	37	6.071502	0.97256	.	.	ENSG00000065534	ENST00000360304;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.76681	0.4021	L	0.49571	1.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.99;0.997	T	0.76812	-0.2821	9	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1668;1599;1668	Q15746-6;Q15746-2;Q15746	.;.;MYLK_HUMAN	K	1668;1599;468;1668	ENSP00000353452:E1668K;ENSP00000320622:E1599K;ENSP00000346846:E468K;ENSP00000418335:E1668K	ENSP00000320622:E1599K	E	-	1	0	MYLK	124831123	1.000000	0.71417	0.972000	0.41901	0.957000	0.61999	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	GAA		0.557	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		38	35	0	0	0	1	0	38	35				
PTPRT	11122	broad.mit.edu	37	20	40980772	40980772	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:40980772T>C	ENST00000373187.1	-	10	1713	c.1714A>G	c.(1714-1716)Aag>Gag	p.K572E	PTPRT_ENST00000373193.3_Missense_Mutation_p.K572E|PTPRT_ENST00000373184.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373201.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373190.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373198.4_Missense_Mutation_p.K572E|PTPRT_ENST00000356100.2_Missense_Mutation_p.K572E			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	572	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCAAAGCCCTTTGCTGTGCTG	0.517																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1714-1716)Aag>Gag		protein tyrosine phosphatase, receptor type, T							82.0	86.0	85.0					20																	40980772		1932	4127	6059	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40980772T>C	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1714A>G	20.37:g.40980772T>C	ENSP00000362283:p.Lys572Glu					PTPRT_ENST00000373187.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373190.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373193.3_Missense_Mutation_p.K572E|PTPRT_ENST00000373201.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373184.1_Missense_Mutation_p.K572E|PTPRT_ENST00000356100.2_Missense_Mutation_p.K572E	p.K572E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			10	1949	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	572			Fibronectin type-III 3.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1714A>G	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132604	0.77662	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.046691	0.85682	D	0.000000	T	0.68256	0.2981	M	0.88842	2.985	0.80722	D	1	P;P	0.47841	0.901;0.864	P;P	0.48141	0.568;0.507	T	0.73959	-0.3818	10	0.49607	T	0.09	.	16.5549	0.84482	0.0:0.0:0.0:1.0	.	572;572	O14522-1;O14522	.;PTPRT_HUMAN	E	572	ENSP00000362286:K572E;ENSP00000362283:K572E;ENSP00000362289:K572E;ENSP00000348408:K572E;ENSP00000362294:K572E;ENSP00000362280:K572E;ENSP00000362297:K572E	ENSP00000348408:K572E	K	-	1	0	PTPRT	40414186	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	8.040000	0.89188	2.310000	0.77875	0.450000	0.29827	AAG		0.517	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			48	101	0	0	0	1	0	48	101				
CENPT	80152	broad.mit.edu	37	16	67863714	67863714	+	Silent	SNP	G	G	A	rs374799764		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67863714G>A	ENST00000562787.1	-	12	1688	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_ENST00000440851.2_Silent_p.D380D|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000219172.3_Silent_p.D380D	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	380	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19142	0.001		0.0	False		,,,				2504	0.0					ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(1138-1140)gaC>gaT		centromere protein T		G		2,4240		0,2,2119	150.0	161.0	157.0		1140	2.6	0.0	16		157	0,8474		0,0,4237	no	coding-synonymous	CENPT	NM_025082.3		0,2,6356	AA,AG,GG		0.0,0.0471,0.0157		380/562	67863714	2,12714	2121	4237	6358	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67863714G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1140C>T	16.37:g.67863714G>A						CENPT_ENST00000219172.3_Silent_p.D380D|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000440851.2_Silent_p.D380D	p.D380D	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	12	1688	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	380					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1140C>T	CCDS42182.1																																																																																				0.612	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		72	82	0	0	0	1	0	72	82				
MYLK	4638	broad.mit.edu	37	3	123419539	123419539	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:123419539G>A	ENST00000475616.1	-	15	2775	c.2776C>T	c.(2776-2778)Cgt>Tgt	p.R926C	MYLK_ENST00000346322.5_Missense_Mutation_p.R857C|MYLK_ENST00000360304.3_Missense_Mutation_p.R926C|MYLK_ENST00000359169.1_Missense_Mutation_p.R926C|MYLK_ENST00000360772.3_Missense_Mutation_p.R926C|MYLK_ENST00000510775.1_5'Flank			Q15746	MYLK_HUMAN	myosin light chain kinase	926	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGTTGGCACGGAAATCCATC	0.572																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2776-2778)Cgt>Tgt		myosin light chain kinase							84.0	72.0	76.0					3																	123419539		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419539G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2776C>T	3.37:g.123419539G>A	ENSP00000418335:p.Arg926Cys					MYLK_ENST00000359169.1_Missense_Mutation_p.R926C|MYLK_ENST00000360304.3_Missense_Mutation_p.R926C|MYLK_ENST00000346322.5_Missense_Mutation_p.R857C|MYLK_ENST00000475616.1_Missense_Mutation_p.R926C	p.R926C			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3154	-		Lung NSC(201;0.0496)	926			5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.2776C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918075	0.73098	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.73789	-0.78;-0.67;-0.78;-0.7;-0.67	4.99	4.99	0.66335	.	.	.	.	.	D	0.86723	0.6001	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.996;0.97;0.993;0.996;0.993;0.991	D	0.88485	0.3071	9	0.72032	D	0.01	.	18.2631	0.90043	0.0:0.0:1.0:0.0	.	926;4;857;926;857;926	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	C	926;926;926;857;926	ENSP00000354004:R926C;ENSP00000353452:R926C;ENSP00000352088:R926C;ENSP00000320622:R857C;ENSP00000418335:R926C	ENSP00000320622:R857C	R	-	1	0	MYLK	124902229	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.681000	0.61663	2.318000	0.78349	0.561000	0.74099	CGT		0.572	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		37	54	0	0	0	1	0	37	54				
PCDHGB1	56104	broad.mit.edu	37	5	140730213	140730213	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140730213G>A	ENST00000523390.1	+	1	386	c.386G>A	c.(385-387)cGt>cAt	p.R129H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	129	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCACCACGTTTCGTTGCA	0.418																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(385-387)cGt>cAt									81.0	81.0	81.0					5																	140730213		1878	4121	5999	SO:0001583	missense	0							g.chr5:140730213G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.386G>A	5.37:g.140730213G>A	ENSP00000429273:p.Arg129His					PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R129H	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	386	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.386G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	0.027	-1.361952	0.01235	.	.	ENSG00000254221	ENST00000523390	T	0.20738	2.05	5.36	-6.3	0.02007	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.11750	0.0286	N	0.26162	0.8	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.002	T	0.40942	-0.9536	9	0.14656	T	0.56	.	11.5554	0.50743	0.6681:0.0:0.2457:0.0862	.	129;129	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	H	129	ENSP00000429273:R129H	ENSP00000429273:R129H	R	+	2	0	PCDHGB1	140710397	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	-4.451000	0.00232	-1.248000	0.02503	-0.251000	0.11542	CGT		0.418	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		35	77	0	0	0	1	0	35	77				
ICE2	79664	broad.mit.edu	37	15	60747588	60747588	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:60747588C>A	ENST00000261520.4	-	7	954	c.720G>T	c.(718-720)caG>caT	p.Q240H	NARG2_ENST00000439632.1_Missense_Mutation_p.Q103H|NARG2_ENST00000561114.1_Missense_Mutation_p.Q240H	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCTTTGACAGCTGCAACTTTA	0.333																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(718-720)caG>caT		NMDA receptor regulated 2							181.0	162.0	169.0					15																	60747588		2202	4300	6502	SO:0001583	missense	79664					nucleus		g.chr15:60747588C>A																												ENST00000261520.4:c.720G>T	15.37:g.60747588C>A	ENSP00000261520:p.Gln240His					NARG2_ENST00000561114.1_Missense_Mutation_p.Q240H|NARG2_ENST00000439632.1_Missense_Mutation_p.Q103H	p.Q240H	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			7	954	-			240						Missense_Mutation	SNP	ENST00000261520.4	37	c.720G>T	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	C	8.991	0.977766	0.18812	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	4.37	0.0766	0.14404	.	0.583787	0.16312	N	0.219978	T	0.25717	0.0626	N	0.22421	0.69	0.25711	N	0.985484	P;P	0.39624	0.681;0.641	P;B	0.45138	0.471;0.275	T	0.12785	-1.0534	9	0.62326	D	0.03	0.0132	4.7564	0.13086	0.4198:0.4088:0.0:0.1714	.	103;240	G3V0H6;Q659A1	.;NARG2_HUMAN	H	240;103	.	ENSP00000261520:Q240H	Q	-	3	2	NARG2	58534880	0.832000	0.29368	0.901000	0.35422	0.069000	0.16628	-0.412000	0.07132	0.151000	0.19162	0.563000	0.77884	CAG		0.333	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			53	56	1	0	1.10885e-35	1	1.24515e-35	53	56				
MAPK15	225689	broad.mit.edu	37	8	144800992	144800992	+	Missense_Mutation	SNP	G	G	A	rs371795375		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144800992G>A	ENST00000338033.4	+	5	453	c.334G>A	c.(334-336)Gtc>Atc	p.V112I	RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395107.4_Missense_Mutation_p.V129I|MAPK15_ENST00000395108.2_Missense_Mutation_p.V112I	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTGCAGGACGTCCACGTGCG	0.692																																						ENST00000338033.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(334-336)Gtc>Atc		mitogen-activated protein kinase 15			ILE/VAL	0,4406		0,0,2203	23.0	26.0	25.0		334	-5.0	0.0	8		25	1,8597	1.2+/-3.3	0,1,4298	no	missense	MAPK15	NM_139021.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	112/545	144800992	1,13003	2203	4299	6502	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144800992G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.334G>A	8.37:g.144800992G>A	ENSP00000337691:p.Val112Ile					RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.V112I|MAPK15_ENST00000395107.4_Missense_Mutation_p.V129I	p.V112I	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	453	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		112			Protein kinase.		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.334G>A	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	3.753	-0.051281	0.07407	0.0	1.16E-4	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.65364	-0.15;-0.15;-0.15	4.26	-5.01	0.02991	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.177441	0.48286	N	0.000197	T	0.25344	0.0616	N	0.02111	-0.68	0.20196	N	0.999924	B	0.13594	0.008	B	0.18263	0.021	T	0.34030	-0.9845	10	0.02654	T	1	.	13.3962	0.60853	0.7688:0.0:0.2312:0.0	.	112	Q8TD08	MK15_HUMAN	I	112;129;112	ENSP00000337691:V112I;ENSP00000378539:V129I;ENSP00000378540:V112I	ENSP00000337691:V112I	V	+	1	0	MAPK15	144872980	0.001000	0.12720	0.006000	0.13384	0.153000	0.21895	0.302000	0.19192	-1.021000	0.03350	-0.478000	0.04885	GTC		0.692	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		14	33	0	0	0	1	0	14	33				
KDM5C	8242	broad.mit.edu	37	X	53247577	53247577	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:53247577G>T	ENST00000375401.3	-	3	764	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	KDM5C_ENST00000375379.3_Missense_Mutation_p.Q78K|KDM5C_ENST00000375383.3_Intron|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q78K|KDM5C_ENST00000452825.3_Intron	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	78					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ACTCTCGTCTGGGCCTGAAGA	0.512			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000375401.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(232-234)Cag>Aag		lysine (K)-specific demethylase 5C							84.0	73.0	76.0					X																	53247577		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53247577G>T	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.232C>A	X.37:g.53247577G>T	ENSP00000364550:p.Gln78Lys					KDM5C_ENST00000375379.3_Missense_Mutation_p.Q78K|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q78K|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Intron	p.Q78K	NM_004187.3	NP_004178.2	P41229	KDM5C_HUMAN			3	764	-			78					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.232C>A	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556879	0.27827	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379	T;T;T	0.62639	0.01;0.01;0.01	4.78	4.78	0.61160	ARID/BRIGHT DNA-binding domain (3);	0.057528	0.64402	D	0.000002	T	0.45135	0.1327	N	0.16368	0.405	0.80722	D	1	B;B	0.28128	0.201;0.045	B;B	0.34824	0.19;0.054	T	0.34179	-0.9839	10	0.13108	T	0.6	-22.2769	10.5479	0.45070	0.0:0.1918:0.8081:0.0	.	78;78	B0QZ44;P41229	.;KDM5C_HUMAN	K	78	ENSP00000364550:Q78K;ENSP00000385394:Q78K;ENSP00000364528:Q78K	ENSP00000364528:Q78K	Q	-	1	0	KDM5C	53264302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.438000	0.59961	2.093000	0.63338	0.529000	0.55759	CAG		0.512	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		24	48	1	0	2.49675e-24	1	2.77874e-24	24	48				
DVL3	1857	broad.mit.edu	37	3	183888361	183888361	+	Missense_Mutation	SNP	G	G	A	rs551717443		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:183888361G>A	ENST00000313143.3	+	15	2217	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	DVL3_ENST00000431765.1_Missense_Mutation_p.G640R|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	657					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGGTCCTCCCGGAGTGCCCCC	0.746													G|||	1	0.000199681	0.0008	0.0	5008	,	,		8263	0.0		0.0	False		,,,				2504	0.0					ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1969-1971)Gga>Aga		dishevelled segment polarity protein 3							29.0	39.0	36.0					3																	183888361		2196	4298	6494	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183888361G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1969G>A	3.37:g.183888361G>A	ENSP00000316054:p.Gly657Arg					DVL3_ENST00000431765.1_Missense_Mutation_p.G640R|EIF2B5_ENST00000444495.1_Intron	p.G657R	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		15	2217	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		657					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1969G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864546	0.51482	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.06068	3.35;3.37	3.91	3.91	0.45181	Dishevelled C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	M	0.76727	2.345	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.991;0.999	T	0.03829	-1.1000	10	0.56958	D	0.05	-4.2773	16.2832	0.82707	0.0:0.0:1.0:0.0	.	640;489;657;657	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	R	657;657;640	ENSP00000316054:G657R;ENSP00000405885:G640R	ENSP00000316054:G657R	G	+	1	0	DVL3	185371055	1.000000	0.71417	0.928000	0.36995	0.842000	0.47809	7.020000	0.76419	1.894000	0.54839	0.561000	0.74099	GGA		0.746	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		19	13	0	0	0	1	0	19	13				
HECTD2	143279	broad.mit.edu	37	10	93221892	93221892	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:93221892G>T	ENST00000298068.5	+	5	645	c.551G>T	c.(550-552)gGg>gTg	p.G184V	HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000446394.1_Missense_Mutation_p.G184V|HECTD2_ENST00000371681.4_Missense_Mutation_p.G184V	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	184					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GAAGACTCTGGGATTAATGCT	0.294																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(550-552)gGg>gTg		HECT domain containing E3 ubiquitin protein ligase 2							204.0	203.0	203.0					10																	93221892		2203	4294	6497	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93221892G>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.551G>T	10.37:g.93221892G>T	ENSP00000298068:p.Gly184Val					HECTD2_ENST00000371681.4_Missense_Mutation_p.G184V|HECTD2_ENST00000298068.5_Missense_Mutation_p.G184V	p.G184V			Q5U5R9	HECD2_HUMAN			5	651	+			184					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.551G>T	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580007	0.65992	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.56776	1.04;0.44;1.02	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	L	0.59436	1.845	0.80722	D	1	P;D;D	0.76494	0.944;0.966;0.999	B;B;D	0.74023	0.277;0.368;0.982	T	0.72367	-0.4315	10	0.87932	D	0	.	19.1506	0.93487	0.0:0.0:1.0:0.0	.	184;184;184	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	V	184	ENSP00000401023:G184V;ENSP00000360746:G184V;ENSP00000298068:G184V	ENSP00000298068:G184V	G	+	2	0	HECTD2	93211872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.173000	0.89680	2.637000	0.89404	0.555000	0.69702	GGG		0.294	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			43	164	1	0	2.64894e-19	1	2.91118e-19	43	164				
NKPD1	284353	broad.mit.edu	37	19	45655971	45655971	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:45655971G>A	ENST00000438936.2	-	3	1269	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	NKPD1_ENST00000589776.1_Missense_Mutation_p.A353V|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000317951.4_Missense_Mutation_p.A575V|NKPD1_ENST00000429338.1_Missense_Mutation_p.A353V			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	353	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGCCTGCACCGCCAGCAGCTG	0.741																																						ENST00000317951.4																			0				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(1723-1725)gCg>gTg		NTPase, KAP family P-loop domain containing 1							4.0	5.0	5.0					19																	45655971		1805	3805	5610	SO:0001583	missense	284353							g.chr19:45655971G>A	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1058C>T	19.37:g.45655971G>A	ENSP00000401739:p.Ala353Val					NKPD1_ENST00000589776.1_Missense_Mutation_p.A353V|NKPD1_ENST00000429338.1_Missense_Mutation_p.A353V|NKPD1_ENST00000438936.2_Missense_Mutation_p.A353V	p.A575V	NM_198478.3	NP_940880.3				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1723	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37	c.1724C>T		.	.	.	.	.	.	.	.	.	.	G	11.99	1.803312	0.31869	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.46063	0.88;0.9;0.92	5.4	-1.43	0.08884	KAP P-loop (1);	0.877101	0.09938	N	0.736283	T	0.25195	0.0612	N	0.22421	0.69	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.25328	-1.0135	10	0.27785	T	0.31	-15.7388	8.1038	0.30874	0.0:0.3341:0.2311:0.4348	.	353	Q17RQ9	NKPD1_HUMAN	V	575;353;353	ENSP00000321976:A575V;ENSP00000401739:A353V;ENSP00000404706:A353V	ENSP00000321976:A575V	A	-	2	0	NKPD1	50347811	0.000000	0.05858	0.825000	0.32803	0.886000	0.51366	-1.059000	0.03479	0.236000	0.21180	0.462000	0.41574	GCG		0.741	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		5	8	0	0	0	1	0	5	8				
MCTP2	55784	broad.mit.edu	37	15	94899379	94899379	+	Missense_Mutation	SNP	G	G	A	rs142627007	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:94899379G>A	ENST00000357742.4	+	8	1019	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.R340H|MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.R340H	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	340					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTTTGATACGCAACCTACGG	0.388													G|||	32	0.00638978	0.0242	0.0	5008	,	,		16257	0.0		0.0	False		,,,				2504	0.0					ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(1018-1020)cGc>cAc		multiple C2 domains, transmembrane 2		G	HIS/ARG,,HIS/ARG	77,4317	69.2+/-107.0	0,77,2120	133.0	134.0	134.0		1019,,1019	5.8	1.0	15	dbSNP_134	134	0,8596		0,0,4298	yes	missense,utr-5,missense	MCTP2	NM_001159643.1,NM_001159644.1,NM_018349.3	29,,29	0,77,6418	AA,AG,GG		0.0,1.7524,0.5928	benign,,benign	340/824,,340/879	94899379	77,12913	2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94899379G>A	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1019G>A	15.37:g.94899379G>A	ENSP00000350377:p.Arg340His					MCTP2_ENST00000543482.1_Missense_Mutation_p.R340H|MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.R340H|MCTP2_ENST00000331706.4_5'UTR	p.R340H	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		8	1019	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		340					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.1019G>A	CCDS32338.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	G	24.9	4.583099	0.86748	0.017524	0.0	ENSG00000140563	ENST00000543482;ENST00000451018;ENST00000357742	T;T;T	0.73258	-0.73;-0.3;-0.13	5.77	5.77	0.91146	.	0.505681	0.23258	N	0.050167	T	0.25865	0.0630	N	0.14661	0.345	0.80722	D	1	D;P;P;P	0.54047	0.964;0.528;0.722;0.871	B;B;B;B	0.42163	0.378;0.042;0.045;0.097	T	0.48547	-0.9026	10	0.27785	T	0.31	.	19.6048	0.95576	0.0:0.0:1.0:0.0	.	340;340;340;340	F5H415;Q6DN12-2;Q6DN12;B7Z6H2	.;.;MCTP2_HUMAN;.	H	340	ENSP00000438521:R340H;ENSP00000395109:R340H;ENSP00000350377:R340H	ENSP00000350377:R340H	R	+	2	0	MCTP2	92700383	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	5.791000	0.69045	2.720000	0.93068	0.557000	0.71058	CGC		0.388	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		37	75	0	0	0	1	0	37	75				
RNF165	494470	broad.mit.edu	37	18	44036491	44036491	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:44036491C>A	ENST00000269439.7	+	8	984	c.933C>A	c.(931-933)ccC>ccA	p.P311P	RNF165_ENST00000543885.1_Silent_p.P119P	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	311							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GACGCCTACCCTGTATGCATC	0.592																																						ENST00000269439.7																			0				NS(1)|large_intestine(4)|lung(6)	11						c.(931-933)ccC>ccA		ring finger protein 165							116.0	111.0	113.0					18																	44036491		2203	4300	6503	SO:0001819	synonymous_variant	494470						zinc ion binding	g.chr18:44036491C>A	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.933C>A	18.37:g.44036491C>A						RNF165_ENST00000543885.1_Silent_p.P119P	p.P311P	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	8	984	+			311					B3KVD1	Silent	SNP	ENST00000269439.7	37	c.933C>A	CCDS32823.1																																																																																				0.592	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		52	70	1	0	1.17673e-23	1	1.30632e-23	52	70				
PCDHB15	56121	broad.mit.edu	37	5	140627364	140627364	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140627364A>G	ENST00000231173.3	+	1	2218	c.2218A>G	c.(2218-2220)Agc>Ggc	p.S740G		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	740					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGACGTGAGCGGCACCGG	0.602																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(2218-2220)Agc>Ggc									103.0	118.0	113.0					5																	140627364		2203	4297	6500	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627364A>G	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.2218A>G	5.37:g.140627364A>G	ENSP00000231173:p.Ser740Gly						p.S740G	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2218	+			740					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.2218A>G	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.719128	0.30503	.	.	ENSG00000113248	ENST00000231173	T	0.52754	0.65	4.34	0.0771	0.14406	.	.	.	.	.	T	0.40145	0.1105	L	0.50847	1.595	0.09310	N	1	P	0.41748	0.761	B	0.41332	0.354	T	0.25152	-1.0140	9	0.49607	T	0.09	.	7.1591	0.25654	0.517:0.0:0.483:0.0	.	740	Q9Y5E8	PCDBF_HUMAN	G	740	ENSP00000231173:S740G	ENSP00000231173:S740G	S	+	1	0	PCDHB15	140607548	0.000000	0.05858	0.818000	0.32626	0.195000	0.23768	-0.042000	0.12063	0.177000	0.19895	0.454000	0.30748	AGC		0.602	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		207	134	0	0	0	1	0	207	134				
DDN	23109	broad.mit.edu	37	12	49392006	49392006	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49392006C>T	ENST00000421952.2	-	2	674	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	218	Interaction with MAGI2.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CCAGCGGCGTCGTGGGGCGGT	0.716																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(652-654)cGa>cAa		dendrin							15.0	18.0	17.0					12																	49392006		2102	4139	6241	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392006C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.653G>A	12.37:g.49392006C>T	ENSP00000390590:p.Arg218Gln						p.R218Q	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	674	-			218			Interaction with MAGI2.			Missense_Mutation	SNP	ENST00000421952.2	37	c.653G>A	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208511	0.58343	.	.	ENSG00000181418	ENST00000421952	T	0.59364	0.27	3.56	3.56	0.40772	.	0.000000	0.34932	N	0.003577	T	0.38374	0.1038	L	0.27053	0.805	0.33263	D	0.559944	P	0.50272	0.933	B	0.40825	0.341	T	0.49560	-0.8927	10	0.30854	T	0.27	-23.6925	7.0102	0.24857	0.0:0.8802:0.0:0.1198	.	218	O94850	DEND_HUMAN	Q	218	ENSP00000390590:R218Q	ENSP00000390590:R218Q	R	-	2	0	DDN	47678273	0.003000	0.15002	0.998000	0.56505	0.724000	0.41520	1.330000	0.33781	2.302000	0.77476	0.561000	0.74099	CGA		0.716	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			27	40	0	0	0	1	0	27	40				
MAPK8IP2	23542	broad.mit.edu	37	22	51043378	51043378	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51043378G>A	ENST00000399908.2	+	3	1569	c.853G>A	c.(853-855)Gcg>Acg	p.A285T	MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.A285T|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.A550T|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.A256T|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.A171T	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	551	Necessary for interaction with FGF13.|Ser-rich.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAGGCGGGCGCGGCGCTGCT	0.682																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(853-855)Gcg>Acg		mitogen-activated protein kinase 8 interacting protein 2							13.0	17.0	16.0					22																	51043378		2126	4151	6277	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51043378G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.853G>A	22.37:g.51043378G>A	ENSP00000382792:p.Ala285Thr					MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.A285T|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.A171T|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.A550T|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.A256T	p.A285T	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	1569	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	551			Ser-rich.		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.853G>A		.	.	.	.	.	.	.	.	.	.	G	7.634	0.679442	0.14907	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T	0.45276	2.23;0.9;1.26;2.23;2.22	4.73	-0.428	0.12306	Src homology-3 domain (1);	0.927800	0.09079	N	0.851581	T	0.16342	0.0393	.	.	.	0.09310	N	1	B;B	0.32382	0.368;0.019	B;B	0.22753	0.041;0.002	T	0.17167	-1.0378	9	0.12103	T	0.63	-33.3025	2.9468	0.05848	0.0864:0.2793:0.3508:0.2836	.	523;551	E7EQG6;Q13387	.;JIP2_HUMAN	T	285;550;171;285;256	ENSP00000382796:A285T;ENSP00000330572:A550T;ENSP00000340015:A171T;ENSP00000382792:A285T;ENSP00000008876:A256T	ENSP00000008876:A256T	A	+	1	0	MAPK8IP2	49390244	0.007000	0.16637	0.000000	0.03702	0.026000	0.11368	0.345000	0.19979	0.046000	0.15833	-0.379000	0.06801	GCG		0.682	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		22	20	0	0	0	1	0	22	20				
SORBS2	8470	broad.mit.edu	37	4	186567832	186567832	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:186567832T>C	ENST00000284776.7	-	10	1183	c.674A>G	c.(673-675)cAt>cGt	p.H225R	SORBS2_ENST00000437304.2_Missense_Mutation_p.H404R|SORBS2_ENST00000393528.3_Missense_Mutation_p.H271R|SORBS2_ENST00000449407.2_Missense_Mutation_p.H296R|SORBS2_ENST00000448662.2_Missense_Mutation_p.H294R|SORBS2_ENST00000431808.1_Missense_Mutation_p.H225R|SORBS2_ENST00000319471.9_Missense_Mutation_p.H311R|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Missense_Mutation_p.H129R|SORBS2_ENST00000355634.5_Missense_Mutation_p.H325R	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	225					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TGGTCTTTCATGCTGAAGAAT	0.438																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(673-675)cAt>cGt		sorbin and SH3 domain containing 2							104.0	101.0	102.0					4																	186567832		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186567832T>C		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.674A>G	4.37:g.186567832T>C	ENSP00000284776:p.His225Arg					SORBS2_ENST00000449407.2_Missense_Mutation_p.H296R|SORBS2_ENST00000448662.2_Missense_Mutation_p.H294R|SORBS2_ENST00000437304.2_Missense_Mutation_p.H404R|SORBS2_ENST00000418609.1_Missense_Mutation_p.H129R|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Missense_Mutation_p.H271R|SORBS2_ENST00000355634.5_Missense_Mutation_p.H325R|SORBS2_ENST00000319471.9_Missense_Mutation_p.H311R|SORBS2_ENST00000284776.7_Missense_Mutation_p.H225R	p.H225R			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	11	1237	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	225					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.674A>G	CCDS3845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.71|19.71	3.879110|3.879110	0.72294|0.72294	.|.	.|.	ENSG00000154556|ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974|ENST00000445625	T;T;T;T;T;T;T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.047111|.	0.85682|.	D|.	0.000000|.	T|T	0.63721|0.63721	0.2535|0.2535	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999997|0.999997	P;D;D;P;B;D;D;D;P;P;B;D;P;D;D;D|.	0.71674|.	0.885;0.99;0.991;0.773;0.042;0.968;0.997;0.99;0.948;0.749;0.005;0.99;0.93;0.998;0.984;0.984|.	P;D;P;B;B;P;D;D;P;B;B;D;P;D;D;P|.	0.78314|.	0.546;0.987;0.824;0.423;0.071;0.748;0.991;0.987;0.597;0.269;0.006;0.962;0.474;0.969;0.922;0.885|.	T|T	0.61501|0.61501	-0.7050|-0.7050	10|5	0.59425|.	D|.	0.04|.	-24.7863|-24.7863	15.324|15.324	0.74144|0.74144	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	288;271;294;129;144;144;129;271;325;225;296;404;294;271;225;271|.	B7Z3D7;G3XAI0;C9JKV9;B7Z3X6;B7Z997;O94875-6;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2|.	.;.;.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.|.	R|V	225;294;225;129;404;311;296;325;271;271;82|123	ENSP00000284776:H225R;ENSP00000409158:H294R;ENSP00000411764:H225R;ENSP00000397482:H129R;ENSP00000396008:H404R;ENSP00000322182:H311R;ENSP00000397262:H296R;ENSP00000347852:H325R;ENSP00000377162:H271R;ENSP00000321983:H271R;ENSP00000401818:H82R|.	ENSP00000284776:H225R|.	H|M	-|-	2|1	0|0	SORBS2|SORBS2	186804826|186804826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.420000|7.420000	0.80191|0.80191	2.197000|2.197000	0.70478|0.70478	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.438	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		29	33	0	0	0	1	0	29	33				
FAT3	120114	broad.mit.edu	37	11	92624210	92624210	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:92624210C>T	ENST00000298047.6	+	27	13718	c.13701C>T	c.(13699-13701)agC>agT	p.S4567S	FAT3_ENST00000533797.1_Silent_p.S870S|FAT3_ENST00000525166.1_Silent_p.S4417S|FAT3_ENST00000409404.2_Silent_p.S4535S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4567					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTACGAGAGCGTGGGAGAGC	0.527										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(13699-13701)agC>agT		FAT atypical cadherin 3							41.0	44.0	43.0					11																	92624210		2088	4219	6307	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92624210C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13701C>T	11.37:g.92624210C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.S4535S|FAT3_ENST00000525166.1_Silent_p.S4417S|FAT3_ENST00000533797.1_Silent_p.S870S	p.S4567S			Q8TDW7	FAT3_HUMAN			27	13718	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4567					B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.13701C>T																																																																																					0.527	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	14	0	0	0	1	0	8	14				
S100A13	6284	broad.mit.edu	37	1	153591516	153591516	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:153591516T>C	ENST00000392623.1	-	3	344		c.e3-2		S100A14_ENST00000368700.3_5'Flank|S100A14_ENST00000368701.1_5'Flank|S100A13_ENST00000392622.1_Splice_Site|S100A13_ENST00000491177.1_Splice_Site|S100A13_ENST00000440685.2_Splice_Site|S100A14_ENST00000344616.2_5'Flank|S100A13_ENST00000339556.4_Splice_Site|S100A14_ENST00000368702.1_5'Flank|S100A13_ENST00000368699.1_Splice_Site	NM_001024212.1	NP_001019383.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13						cytokine secretion (GO:0050663)|interleukin-1 alpha secretion (GO:0050703)|mast cell degranulation (GO:0043303)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|response to copper ion (GO:0046688)|response to electrical stimulus (GO:0051602)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	GCCCACATCCTGAGGAGACAC	0.502																																					NSCLC(156;1296 1989 17590 30930 49554)	ENST00000368699.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7						c.e5-2		S100 calcium binding protein A13	Amlexanox(DB01025)						151.0	156.0	155.0					1																	153591516		2203	4300	6503	SO:0001630	splice_region_variant	6284				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding	g.chr1:153591516T>C	AK097132	CCDS30874.1	1q21	2008-02-05	2001-11-28		ENSG00000189171	ENSG00000189171		"""S100 calcium binding proteins"""	10490	protein-coding gene	gene with protein product		601989	"""S100 calcium-binding protein A13"""			8985590	Standard	XM_005245434		Approved		uc001fch.3	Q99584	OTTHUMG00000036641	ENST00000392623.1:c.154-2A>G	1.37:g.153591516T>C						S100A13_ENST00000339556.4_Splice_Site|S100A13_ENST00000491177.1_Splice_Site|S100A13_ENST00000392623.1_Splice_Site|S100A13_ENST00000440685.2_Splice_Site|S100A13_ENST00000392622.1_Splice_Site		NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	657	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)							Q52PI9|Q6FGF8	Splice_Site	SNP	ENST00000392623.1	37		CCDS30874.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.334708	0.24253	.	.	ENSG00000189171	ENST00000339556;ENST00000368699;ENST00000440685;ENST00000392623;ENST00000392622	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2151	0.54402	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	S100A13	151858140	0.999000	0.42202	0.963000	0.40424	0.062000	0.15995	4.127000	0.57944	2.148000	0.66965	0.529000	0.55759	.		0.502	S100A13-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089109.3	NM_005979	Intron	101	112	0	0	0	1	0	101	112				
G6PD	2539	broad.mit.edu	37	X	153762334	153762334	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153762334T>C	ENST00000393564.2	-	7	798	c.686A>G	c.(685-687)aAc>aGc	p.N229S	G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000369620.2_Missense_Mutation_p.N229S|G6PD_ENST00000393562.2_Missense_Mutation_p.N259S	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	229					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGCGATGTTGTCCCGGTT	0.587																																						ENST00000393562.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(775-777)aAc>aGc		glucose-6-phosphate dehydrogenase							94.0	74.0	81.0					X																	153762334		2203	4300	6503	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153762334T>C	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.686A>G	X.37:g.153762334T>C	ENSP00000377194:p.Asn229Ser					G6PD_ENST00000369620.2_Missense_Mutation_p.N229S|G6PD_ENST00000393564.2_Missense_Mutation_p.N229S	p.N259S	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN			7	1159	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		229					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.776A>G	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.280482	0.23392	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81;-4.81	5.51	4.34	0.51931	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.094927	0.64402	D	0.000001	D	0.93674	0.7979	N	0.16790	0.44	0.44469	D	0.997409	B;B	0.26363	0.147;0.121	B;B	0.22152	0.038;0.023	D	0.89158	0.3528	10	0.27082	T	0.32	.	8.6755	0.34176	0.0:0.0916:0.0:0.9083	.	229;259	P11413;P11413-3	G6PD_HUMAN;.	S	259;229;229;229;230;230;229	ENSP00000377192:N259S;ENSP00000377194:N229S;ENSP00000358633:N229S;ENSP00000395599:N230S;ENSP00000400648:N230S;ENSP00000394690:N229S	ENSP00000291567:N229S	N	-	2	0	G6PD	153415528	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	3.471000	0.53107	0.724000	0.32296	-0.537000	0.04273	AAC		0.587	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		39	69	0	0	0	1	0	39	69				
GPR158	57512	broad.mit.edu	37	10	25464418	25464418	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:25464418C>T	ENST00000376351.3	+	1	428	c.69C>T	c.(67-69)ggC>ggT	p.G23G	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	23					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGCTGTTGGCGCCAGCCGCG	0.667																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(67-69)ggC>ggT		G protein-coupled receptor 158							31.0	38.0	36.0					10																	25464418		2196	4285	6481	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464418C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.69C>T	10.37:g.25464418C>T						GPR158-AS1_ENST00000449643.1_RNA	p.G23G	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			1	428	+			23					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.69C>T	CCDS31166.1																																																																																				0.667	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		35	92	0	0	0	1	0	35	92				
FAM168B	130074	broad.mit.edu	37	2	131812977	131812977	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:131812977C>T	ENST00000409185.1	-	5	450	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	FAM168B_ENST00000389915.3_Missense_Mutation_p.V115I	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	115						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						TGGTGGATGACGTGAGGAGGT	0.612																																						ENST00000409185.1																			0				endometrium(3)|lung(2)	5						c.(343-345)Gtc>Atc		family with sequence similarity 168, member B							150.0	172.0	164.0					2																	131812977		2179	4267	6446	SO:0001583	missense	130074							g.chr2:131812977C>T		CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.343G>A	2.37:g.131812977C>T	ENSP00000387051:p.Val115Ile					FAM168B_ENST00000389915.3_Missense_Mutation_p.V115I	p.V115I	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN			5	450	-			115					Q2TAZ6|Q6NZ40	Missense_Mutation	SNP	ENST00000409185.1	37	c.343G>A	CCDS42755.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152015	0.94645	.	.	ENSG00000152102	ENST00000409185;ENST00000389915	.	.	.	5.44	5.44	0.79542	.	0.113381	0.64402	D	0.000014	T	0.65091	0.2658	L	0.34521	1.04	0.80722	D	1	P	0.51537	0.946	P	0.62184	0.899	T	0.62699	-0.6799	9	0.40728	T	0.16	-9.1776	17.1064	0.86664	0.0:1.0:0.0:0.0	.	115	A1KXE4	F168B_HUMAN	I	115	.	ENSP00000374565:V115I	V	-	1	0	FAM168B	131529447	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.314000	0.78988	2.700000	0.92200	0.655000	0.94253	GTC		0.612	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	NM_001009993		59	106	0	0	0	1	0	59	106				
TBC1D16	125058	broad.mit.edu	37	17	77984212	77984212	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:77984212C>T	ENST00000310924.2	-	3	641	c.526G>A	c.(526-528)Gcc>Acc	p.A176T		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	176							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGCTGCGAGGCTGGCTGGGCA	0.706																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(526-528)Gcc>Acc		TBC1 domain family, member 16							21.0	24.0	23.0					17																	77984212		2197	4298	6495	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77984212C>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.526G>A	17.37:g.77984212C>T	ENSP00000309794:p.Ala176Thr						p.A176T	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		3	641	-	all_neural(118;0.167)		176					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.526G>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.981891	0.00448	.	.	ENSG00000167291	ENST00000310924	T	0.08193	3.12	4.58	2.55	0.30701	.	2.611080	0.01179	N	0.007045	T	0.04543	0.0124	N	0.08118	0	0.25580	N	0.986801	B	0.02656	0.0	B	0.06405	0.002	T	0.37174	-0.9717	10	0.12103	T	0.63	-22.1405	3.4198	0.07389	0.2709:0.5086:0.0:0.2205	.	176	Q8TBP0	TBC16_HUMAN	T	176	ENSP00000309794:A176T	ENSP00000309794:A176T	A	-	1	0	TBC1D16	75598807	0.003000	0.15002	0.178000	0.23040	0.088000	0.18126	-0.060000	0.11712	0.893000	0.36288	0.591000	0.81541	GCC		0.706	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		6	27	0	0	0	1	0	6	27				
SHPRH	257218	broad.mit.edu	37	6	146209222	146209222	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:146209222T>C	ENST00000367505.2	-	29	5153	c.4889A>G	c.(4888-4890)cAc>cGc	p.H1630R	SHPRH_ENST00000275233.7_Missense_Mutation_p.H1630R|SHPRH_ENST00000438092.2_Missense_Mutation_p.H1634R|SHPRH_ENST00000367503.3_Missense_Mutation_p.H1634R|RP11-545I5.3_ENST00000606388.1_RNA			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1630	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAAGAATCTGTGTACAATAGT	0.323																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(4900-4902)cAc>cGc		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							132.0	118.0	122.0					6																	146209222		1811	4084	5895	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146209222T>C	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4889A>G	6.37:g.146209222T>C	ENSP00000356475:p.His1630Arg					SHPRH_ENST00000438092.2_Missense_Mutation_p.H1634R|SHPRH_ENST00000275233.7_Missense_Mutation_p.H1630R|SHPRH_ENST00000367505.2_Missense_Mutation_p.H1630R	p.H1634R	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	29	5299	-		Ovarian(120;0.0365)	1630			Helicase C-terminal.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.4901A>G	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365854	0.61513	.	.	ENSG00000146414	ENST00000417762;ENST00000367507;ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.18	5.18	0.71444	Helicase, C-terminal (1);	0.069902	0.56097	D	0.000029	T	0.67335	0.2882	L	0.56396	1.775	0.80722	D	1	P;P	0.43633	0.716;0.813	B;P	0.44422	0.262;0.449	T	0.67476	-0.5661	10	0.25106	T	0.35	-9.4596	13.5748	0.61868	0.0:0.0:0.0:1.0	.	1630;1634	Q149N8;Q149N8-4	SHPRH_HUMAN;.	R	52;78;1630;1634;1634;1630	ENSP00000403790:H52R;ENSP00000356475:H1630R;ENSP00000356473:H1634R;ENSP00000412797:H1634R;ENSP00000275233:H1630R	ENSP00000275233:H1630R	H	-	2	0	SHPRH	146250915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.605000	0.82844	1.926000	0.55796	0.477000	0.44152	CAC		0.323	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		9	34	0	0	0	1	0	9	34				
WWOX	51741	broad.mit.edu	37	16	78458772	78458772	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:78458772T>G	ENST00000566780.1	+	7	977	c.611T>G	c.(610-612)cTt>cGt	p.L204R	WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.L204R	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	204	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTCAGGCCTCTTCATGTGCTT	0.463																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(610-612)cTt>cGt		WW domain containing oxidoreductase							315.0	323.0	320.0					16																	78458772		1933	4133	6066	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78458772T>G	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.611T>G	16.37:g.78458772T>G	ENSP00000457230:p.Leu204Arg					WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.L204R|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron	p.L204R	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	7	977	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	204			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.611T>G	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.766119	0.49574	.	.	ENSG00000186153	ENST00000408984;ENST00000299644	D	0.91351	-2.83	5.35	5.35	0.76521	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.97417	0.9155	H	0.98866	4.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99107	1.0845	10	0.87932	D	0	.	15.3344	0.74241	0.0:0.0:0.0:1.0	.	204	Q9NZC7	WWOX_HUMAN	R	204;47	ENSP00000386161:L204R	ENSP00000299644:L47R	L	+	2	0	WWOX	77016273	1.000000	0.71417	0.998000	0.56505	0.441000	0.31987	7.694000	0.84235	2.006000	0.58801	0.533000	0.62120	CTT		0.463	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			31	337	0	0	0	1	0	31	337				
MYCT1	80177	broad.mit.edu	37	6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A	rs375330501		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:153043291G>A	ENST00000367245.5	+	2	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	204						nucleus (GO:0005634)		p.R204H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532																																						ENST00000367245.5																			1	Substitution - Missense(1)	p.R204H(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(610-612)cGt>cAt		myc target 1		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	111.0	106.0	108.0		611	5.8	0.5	6		108	0,8600		0,0,4300	no	missense	MYCT1	NM_025107.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	204/236	153043291	3,13003	2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153043291G>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.611G>A	6.37:g.153043291G>A	ENSP00000356214:p.Arg204His					MYCT1_ENST00000529453.1_Intron	p.R204H	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	619	+		Ovarian(120;0.0654)	204					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.611G>A	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.40|16.40	3.112581|3.112581	0.56398|0.56398	6.81E-4|6.81E-4	0.0|0.0	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.53857|.	0.6|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.166647|.	0.52532|.	D|.	0.000078|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;B|.	0.32939|.	0.391;0.391|.	B;B|.	0.24541|.	0.054;0.037|.	T|T	0.53027|0.53027	-0.8496|-0.8496	10|5	0.59425|.	D|.	0.04|.	-15.1274|-15.1274	14.2344|14.2344	0.65916|0.65916	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	156;204|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	H|I	204|185	ENSP00000356214:R204H|.	ENSP00000356214:R204H|.	R|V	+|+	2|1	0|0	MYCT1|MYCT1	153084984|153084984	0.837000|0.837000	0.29446|0.29446	0.470000|0.470000	0.27216|0.27216	0.982000|0.982000	0.71751|0.71751	1.575000|1.575000	0.36493|0.36493	2.736000|2.736000	0.93811|0.93811	0.591000|0.591000	0.81541|0.81541	CGT|GTC		0.532	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		57	88	0	0	0	1	0	57	88				
ZNF518B	85460	broad.mit.edu	37	4	10447381	10447381	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:10447381T>C	ENST00000326756.3	-	3	1010	c.572A>G	c.(571-573)cAg>cGg	p.Q191R		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	191					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATACTCACACTGATAAGGAAA	0.403																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(571-573)cAg>cGg		zinc finger protein 518B							136.0	139.0	138.0					4																	10447381		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10447381T>C	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.572A>G	4.37:g.10447381T>C	ENSP00000317614:p.Gln191Arg						p.Q191R	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	1010	-			191					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.572A>G	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	9.546	1.114636	0.20795	.	.	ENSG00000178163	ENST00000326756	T	0.19105	2.17	6.16	-3.0	0.05480	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.175640	0.06278	N	0.696865	T	0.08537	0.0212	N	0.04655	-0.195	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.40720	-0.9548	10	0.09590	T	0.72	-0.4925	9.2791	0.37718	0.0:0.5176:0.1239:0.3585	.	191	Q9C0D4	Z518B_HUMAN	R	191	ENSP00000317614:Q191R	ENSP00000317614:Q191R	Q	-	2	0	ZNF518B	10056479	0.013000	0.17824	0.000000	0.03702	0.961000	0.63080	0.119000	0.15626	-0.746000	0.04766	-0.417000	0.06048	CAG		0.403	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		71	73	0	0	0	1	0	71	73				
TUBA3D	113457	broad.mit.edu	37	2	132236920	132236920	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:132236920C>T	ENST00000321253.6	+	3	373	c.266C>T	c.(265-267)cCg>cTg	p.P89L	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	89					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCTTCCACCCGGAGCAGCTG	0.527																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(265-267)cCg>cTg		tubulin, alpha 3d							132.0	122.0	125.0					2																	132236920		2203	4300	6503	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132236920C>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.266C>T	2.37:g.132236920C>T	ENSP00000326042:p.Pro89Leu					TUBA3D_ENST00000409047.2_3'UTR	p.P89L	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	3	373	+			89					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.266C>T	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	c	10.52	1.372306	0.24857	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.73258	-0.73	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.46442	U	0.000288	D	0.87589	0.6215	H	0.98238	4.18	0.80722	D	1	D	0.65815	0.995	D	0.65684	0.937	D	0.89606	0.3838	10	0.87932	D	0	.	10.1507	0.42791	0.0:1.0:0.0:0.0	.	89	Q13748	TBA3C_HUMAN	L	89	ENSP00000326042:P89L	ENSP00000326042:P89L	P	+	2	0	TUBA3D	131953390	1.000000	0.71417	0.991000	0.47740	0.119000	0.20118	6.499000	0.73683	1.243000	0.43853	0.194000	0.17425	CCG		0.527	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		68	113	0	0	0	1	0	68	113				
PTCH1	5727	broad.mit.edu	37	9	98238411	98238411	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:98238411C>A	ENST00000331920.6	-	12	1932	c.1633G>T	c.(1633-1635)Gga>Tga	p.G545*	PTCH1_ENST00000375274.2_Nonsense_Mutation_p.G544*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.G394*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.G394*|PTCH1_ENST00000430669.2_Nonsense_Mutation_p.G479*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.G394*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.G479*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	545	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACGCTGGCTCCTGTGCGCTTC	0.592																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(1435-1437)Gga>Tga		patched 1							70.0	52.0	58.0					9																	98238411		2203	4300	6503	SO:0001587	stop_gained	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98238411C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1633G>T	9.37:g.98238411C>A	ENSP00000332353:p.Gly545*					PTCH1_ENST00000437951.1_Nonsense_Mutation_p.G479*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.G544*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.G394*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.G545*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.G394*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.G394*	p.G479*			Q13635	PTC1_HUMAN			12	2020	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	545			SSD.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	ENST00000331920.6	37	c.1435G>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	43	9.936196	0.99299	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.0088	19.0716	0.93140	0.0:1.0:0.0:0.0	.	.	.	.	X	545;479;394;394;479;394;544;210	.	ENSP00000332353:G545X	G	-	1	0	PTCH1	97278232	1.000000	0.71417	0.949000	0.38748	0.992000	0.81027	7.278000	0.78587	2.805000	0.96524	0.655000	0.94253	GGA		0.592	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		13	11	1	0	1.5842e-08	1	1.66388e-08	13	11				
TTLL12	23170	broad.mit.edu	37	22	43570304	43570304	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:43570304G>A	ENST00000216129.6	-	8	1203	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	TTLL12_ENST00000484118.1_5'UTR|TTLL12_ENST00000494035.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	380	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GGCCCTCGGGGCCACCTGCCC	0.657																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(1138-1140)ggC>ggT		tubulin tyrosine ligase-like family, member 12							48.0	55.0	52.0					22																	43570304		2202	4299	6501	SO:0001819	synonymous_variant	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43570304G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1140C>T	22.37:g.43570304G>A							p.G380G	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			8	1203	-		Ovarian(80;0.221)|Glioma(61;0.222)	380			TTL.		Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	c.1140C>T	CCDS14047.1																																																																																				0.657	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		67	124	0	0	0	1	0	67	124				
DNER	92737	broad.mit.edu	37	2	230223281	230223281	+	Missense_Mutation	SNP	G	G	A	rs370899509		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:230223281G>A	ENST00000341772.4	-	13	2323	c.2189C>T	c.(2188-2190)aCa>aTa	p.T730I		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	730					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTTAATCAGTGTGACCAAGGG	0.333																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(2188-2190)aCa>aTa		delta/notch-like EGF repeat containing		G	ILE/THR	0,4406		0,0,2203	75.0	76.0	76.0		2189	5.9	1.0	2		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNER	NM_139072.3	89	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	730/738	230223281	1,13005	2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230223281G>A	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.2189C>T	2.37:g.230223281G>A	ENSP00000345229:p.Thr730Ile						p.T730I	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	13	2323	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	730					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.2189C>T	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416756	0.83449	0.0	1.16E-4	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86694	-2.16	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.88198	0.6372	N	0.14661	0.345	0.58432	D	0.999997	D	0.76494	0.999	D	0.64144	0.922	D	0.89958	0.4084	10	0.87932	D	0	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	730	Q8NFT8	DNER_HUMAN	I	730;448	ENSP00000345229:T730I	ENSP00000345229:T730I	T	-	2	0	DNER	229931525	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.905000	0.92613	2.808000	0.96608	0.650000	0.86243	ACA		0.333	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		32	30	0	0	0	1	0	32	30				
TRPV3	162514	broad.mit.edu	37	17	3438974	3438974	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:3438974C>T	ENST00000576742.1	-	7	998	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	TRPV3_ENST00000572519.1_Missense_Mutation_p.R226Q|TRPV3_ENST00000301365.4_Missense_Mutation_p.R226Q	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	226					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GTCCCCCTGCCGCCGCTCGAT	0.721																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(676-678)cGg>cAg		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						11.0	12.0	12.0					17																	3438974		2165	4262	6427	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3438974C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.677G>A	17.37:g.3438974C>T	ENSP00000461518:p.Arg226Gln					TRPV3_ENST00000576742.1_Missense_Mutation_p.R226Q|TRPV3_ENST00000572519.1_Missense_Mutation_p.R226Q	p.R226Q			Q8NET8	TRPV3_HUMAN			7	808	-			226					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.677G>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	C	37	6.118186	0.97300	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.53206	0.63	5.03	5.03	0.67393	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.63177	0.2489	L	0.45228	1.405	0.48452	D	0.999653	B;D;D;D;D;D;D	0.89917	0.076;1.0;0.997;1.0;1.0;1.0;0.996	B;D;P;D;D;D;P	0.87578	0.018;0.992;0.818;0.996;0.996;0.998;0.722	T	0.65195	-0.6227	10	0.87932	D	0	-10.9786	18.2979	0.90153	0.0:1.0:0.0:0.0	.	210;210;226;210;226;226;226	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	Q	226;226;210	ENSP00000301365:R226Q	ENSP00000301365:R226Q	R	-	2	0	TRPV3	3385724	0.988000	0.35896	1.000000	0.80357	0.892000	0.51952	7.446000	0.80609	2.741000	0.93983	0.555000	0.69702	CGG		0.721	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		4	7	0	0	0	1	0	4	7				
RNF150	57484	broad.mit.edu	37	4	142053668	142053668	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:142053668G>T	ENST00000515673.2	-	1	328	c.295C>A	c.(295-297)Cgc>Agc	p.R99S	RNF150_ENST00000306799.3_Missense_Mutation_p.R99S|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.R99S			Q9ULK6	RN150_HUMAN	ring finger protein 150	99	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CAGGCCAGGCGGTCGTGGGCC	0.672																																						ENST00000306799.3																			0				breast(1)|large_intestine(10)|lung(7)|ovary(1)	19						c.(295-297)Cgc>Agc		ring finger protein 150							23.0	23.0	23.0					4																	142053668		2198	4294	6492	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:142053668G>T	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.295C>A	4.37:g.142053668G>T	ENSP00000425840:p.Arg99Ser					RNF150_ENST00000515673.1_Missense_Mutation_p.R99S|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.R99S	p.R99S	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN			1	948	-	all_hematologic(180;0.162)		99			PA.		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.295C>A	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100271	0.56183	.	.	ENSG00000170153	ENST00000306799;ENST00000515673;ENST00000507500	T;T;T	0.05319	3.46;3.46;3.46	4.06	3.18	0.36537	Protease-associated domain, PA (1);	0.294750	0.29638	N	0.011587	T	0.15782	0.0380	L	0.58428	1.81	0.80722	D	1	D;D;D	0.60575	0.986;0.988;0.977	P;D;P	0.65010	0.753;0.931;0.84	T	0.05616	-1.0874	10	0.19590	T	0.45	.	11.1068	0.48207	0.0:0.0:0.6638:0.3361	.	99;99;99	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	S	99	ENSP00000304321:R99S;ENSP00000425840:R99S;ENSP00000425568:R99S	ENSP00000304321:R99S	R	-	1	0	RNF150	142273118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.588000	0.53964	0.792000	0.33850	0.455000	0.32223	CGC		0.672	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		3	5	1	0	1	1	1	3	5				
ABCB6	10058	broad.mit.edu	37	2	220077176	220077176	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:220077176C>T	ENST00000265316.3	-	14	2217	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	ABCB6_ENST00000439002.2_Missense_Mutation_p.R588H	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	634	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAACAGCAGGCGCAAAATTGT	0.512																																						ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1900-1902)cGc>cAc		ATP-binding cassette, sub-family B (MDR/TAP), member 6							114.0	106.0	109.0					2																	220077176		2203	4300	6503	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220077176C>T	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1901G>A	2.37:g.220077176C>T	ENSP00000265316:p.Arg634His					ABCB6_ENST00000439002.2_Missense_Mutation_p.R588H	p.R634H	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	2217	-		Renal(207;0.0474)	634			ABC transporter.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.1901G>A	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.354901|5.354901	0.95854|0.95854	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.94330	.|-3.4;-3.4	4.71|4.71	4.71|4.71	0.59529|0.59529	.|ATPase, AAA+ type, core (1);ABC transporter-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95227|0.95227	0.8452|0.8452	L|L	0.43757|0.43757	1.38|1.38	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.95736|0.95736	0.8779|0.8779	5|10	.|0.87932	.|D	.|0	-15.0202|-15.0202	17.8222|17.8222	0.88653|0.88653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|588;634	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	T|H	482|634;588	.|ENSP00000265316:R634H;ENSP00000394333:R588H	.|ENSP00000265316:R634H	A|R	-|-	1|2	0|0	ABCB6|ABCB6	219785420|219785420	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.980000|0.980000	0.70556|0.70556	7.333000|7.333000	0.79214|0.79214	2.606000|2.606000	0.88127|0.88127	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.512	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		23	37	0	0	0	1	0	23	37				
TYW1B	441250	broad.mit.edu	37	7	72281094	72281094	+	RNA	SNP	C	C	T	rs533168112		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:72281094C>T	ENST00000435769.2	-	0	517				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										ATTTCCCAGGCCAAATACCGC	0.428																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							222.0	184.0	196.0					7																	72281094		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72281094C>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72281094C>T										Q6NUM6	TYW1B_HUMAN			0	336	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.428	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		75	120	0	0	0	1	0	75	120				
RIC1	57589	broad.mit.edu	37	9	5774180	5774180	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:5774180G>T	ENST00000414202.2	+	26	4397	c.4206G>T	c.(4204-4206)gaG>gaT	p.E1402D	KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1286D|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1323D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGAAAGAGGAGGACACAGCCC	0.547																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(4204-4206)gaG>gaT		KIAA1432							83.0	72.0	76.0					9																	5774180		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5774180G>T																												ENST00000414202.2:c.4206G>T	9.37:g.5774180G>T	ENSP00000416696:p.Glu1402Asp					KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1286D|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1323D	p.E1402D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	26	4397	+		Acute lymphoblastic leukemia(23;0.154)	1402						Missense_Mutation	SNP	ENST00000414202.2	37	c.4206G>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.06|12.06	1.823691|1.823691	0.32237|0.32237	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.7|5.7	2.6|2.6	0.31112|0.31112	.|.	0.208574|.	0.49916|.	N|.	0.000128|.	T|.	0.49660|.	0.1570|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.36114|.	-0.9761|.	9|.	0.13470|.	T|.	0.59|.	-11.4343|-11.4343	12.5851|12.5851	0.56412|0.56412	0.0666:0.2364:0.697:0.0|0.0666:0.2364:0.697:0.0	.|.	1286;1402|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	D|X	1402;1323;1286|1294	.|.	ENSP00000416696:E1402D|.	E|G	+|+	3|1	2|0	KIAA1432|KIAA1432	5764180|5764180	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	1.088000|1.088000	0.30877|0.30877	0.738000|0.738000	0.32606|0.32606	0.462000|0.462000	0.41574|0.41574	GAG|GGA		0.547	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			32	50	1	0	1.99505e-19	1	2.19531e-19	32	50				
PXDNL	137902	broad.mit.edu	37	8	52336136	52336136	+	Splice_Site	SNP	C	C	A	rs530811126		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:52336136C>A	ENST00000356297.4	-	14	1894	c.1794G>T	c.(1792-1794)acG>acT	p.T598T	PXDNL_ENST00000543296.1_Splice_Site_p.T598T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	598					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GACACCTACCCGTGACTGTAA	0.438																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.e14+1		peroxidasin homolog (Drosophila)-like							92.0	96.0	95.0					8																	52336136		2047	4195	6242	SO:0001630	splice_region_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52336136C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1795+1G>T	8.37:g.52336136C>A						PXDNL_ENST00000543296.1_Splice_Site_p.T598_splice	p.T598_splice	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			14	1894	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	598					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Splice_Site	SNP	ENST00000356297.4	37	c.1795_splice	CCDS47855.1																																																																																				0.438	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	Silent	19	45	1	0	5.3912e-06	1	5.55592e-06	19	45				
IGFBP1	3484	broad.mit.edu	37	7	45930298	45930298	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:45930298C>A	ENST00000275525.3	+	2	797	c.501C>A	c.(499-501)acC>acA	p.T167T	IGFBP1_ENST00000457280.1_Silent_p.T167T|IGFBP1_ENST00000468955.1_Silent_p.T167T	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	167					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						TCCATGTCACCAACATCAAAA	0.527											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000275525.3																			0				large_intestine(2)|lung(4)	6						c.(499-501)acC>acA		insulin-like growth factor binding protein 1							101.0	101.0	101.0					7																	45930298		2203	4300	6503	SO:0001819	synonymous_variant	3484					extracellular space	insulin-like growth factor binding	g.chr7:45930298C>A		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.501C>A	7.37:g.45930298C>A			OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP1_ENST00000468955.1_Silent_p.T167T|IGFBP1_ENST00000457280.1_Silent_p.T167T	p.T167T	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN			2	797	+			167					A4D2F4|D3DVL9|Q8IYP5	Silent	SNP	ENST00000275525.3	37	c.501C>A	CCDS5504.1																																																																																				0.527	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		38	64	1	0	3.62531e-18	1	3.9594e-18	38	64				
RP11-24M17.5	0	broad.mit.edu	37	15	76072999	76072999	+	RNA	SNP	T	T	C	rs554696999	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:76072999T>C	ENST00000395215.3	+	0	388																											AACAGTGAAATACACAAAGCA	0.478																																						ENST00000395215.3																			0																																																			0							g.chr15:76072999T>C																													15.37:g.76072999T>C														0	388	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	2.326	-0.354488	0.05173	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	-1.51	0.08664	.	.	.	.	.	T	0.21062	0.0507	.	.	.	.	.	.	B	0.28208	0.203	B	0.28465	0.09	T	0.27536	-1.0071	6	0.21014	T	0.42	.	3.244	0.06791	0.0:0.0:0.4485:0.5515	.	116	B4DZE6	.	T	116	.	ENSP00000378641:I116T	I	+	2	0	AC019294.2	73860054	0.745000	0.28261	0.010000	0.14722	0.042000	0.13812	0.979000	0.29500	-0.398000	0.07679	0.136000	0.15936	ATA		0.478	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			37	34	0	0	0	1	0	37	34				
OR2L2	26246	broad.mit.edu	37	1	248201969	248201969	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:248201969C>T	ENST00000366479.2	+	1	496	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTATCCCATCCGTATAAGCAA	0.428																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(400-402)Cgt>Tgt		olfactory receptor, family 2, subfamily L, member 2							178.0	157.0	164.0					1																	248201969		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201969C>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.400C>T	1.37:g.248201969C>T	ENSP00000355435:p.Arg134Cys					OR2L13_ENST00000366478.2_Intron	p.R134C	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	496	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		134					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.400C>T	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	5.436	0.265483	0.10294	.	.	ENSG00000203663	ENST00000366479	T	0.01335	5.0	1.9	-3.19	0.05171	GPCR, rhodopsin-like superfamily (1);	1.441270	0.05467	U	0.552397	T	0.01387	0.0045	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.49495	-0.8934	10	0.66056	D	0.02	.	1.9651	0.03394	0.4492:0.2856:0.1494:0.1158	.	134	Q8NH16	OR2L2_HUMAN	C	134	ENSP00000355435:R134C	ENSP00000355435:R134C	R	+	1	0	OR2L2	246268592	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-3.198000	0.00561	-0.448000	0.07128	0.194000	0.17425	CGT		0.428	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		53	70	0	0	0	1	0	53	70				
CYLC1	1538	broad.mit.edu	37	X	83129489	83129489	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:83129489A>G	ENST00000329312.4	+	4	1810	c.1773A>G	c.(1771-1773)aaA>aaG	p.K591K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	591					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCAATGAAAAAGGGGAAAAAG	0.418																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1771-1773)aaA>aaG		cylicin, basic protein of sperm head cytoskeleton 1							67.0	59.0	61.0					X																	83129489		2202	4299	6501	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129489A>G	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1773A>G	X.37:g.83129489A>G							p.K591K	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1810	+			591					A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.1773A>G	CCDS35341.1																																																																																				0.418	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		32	25	0	0	0	1	0	32	25				
GIGYF1	64599	broad.mit.edu	37	7	100283633	100283633	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:100283633G>A	ENST00000275732.5	-	9	2227	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	340					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTTCGGAAGGTTCCTCCTCC	0.682																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1018-1020)Cct>Tct		GRB10 interacting GYF protein 1							36.0	34.0	35.0					7																	100283633		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100283633G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1018C>T	7.37:g.100283633G>A	ENSP00000275732:p.Pro340Ser					GIGYF1_ENST00000471340.2_Intron	p.P340S	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			9	2227	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		340					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.1018C>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	7.409	0.634391	0.14322	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.82081	-1.57	5.07	3.07	0.35406	.	0.773593	0.12252	N	0.485507	T	0.59115	0.2170	N	0.03608	-0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.46952	-0.9154	10	0.08837	T	0.75	-5.3194	7.2293	0.26033	0.0:0.1766:0.6146:0.2088	.	340	O75420	PERQ1_HUMAN	S	59;340	ENSP00000275732:P340S	ENSP00000275732:P340S	P	-	1	0	GIGYF1	100121569	0.958000	0.32768	0.293000	0.24932	0.231000	0.25187	0.000000	0.12993	1.326000	0.45319	0.655000	0.94253	CCT		0.682	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		33	42	0	0	0	1	0	33	42				
ZNF800	168850	broad.mit.edu	37	7	127014143	127014143	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:127014143A>G	ENST00000393313.1	-	5	1838	c.1247T>C	c.(1246-1248)gTa>gCa	p.V416A	ZNF800_ENST00000265827.3_Missense_Mutation_p.V416A|ZNF800_ENST00000393312.1_Missense_Mutation_p.V416A|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGAAGATTCTACAGAATCTGC	0.358																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1246-1248)gTa>gCa		zinc finger protein 800							86.0	92.0	90.0					7																	127014143		2203	4297	6500	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014143A>G	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1247T>C	7.37:g.127014143A>G	ENSP00000376989:p.Val416Ala					ZNF800_ENST00000393312.1_Missense_Mutation_p.V416A|ZNF800_ENST00000265827.3_Missense_Mutation_p.V416A	p.V416A			Q2TB10	ZN800_HUMAN			5	1838	-			416					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1247T>C	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	A	3.859	-0.030218	0.07543	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.14391	2.51;2.51;2.51	5.83	5.83	0.93111	.	0.323270	0.30519	N	0.009459	T	0.08313	0.0207	N	0.08118	0	0.27036	N	0.964137	B;B	0.20368	0.044;0.044	B;B	0.22880	0.042;0.042	T	0.32214	-0.9915	8	.	.	.	0.1755	15.3705	0.74560	1.0:0.0:0.0:0.0	.	319;416	B7Z4V7;Q2TB10	.;ZN800_HUMAN	A	416	ENSP00000376989:V416A;ENSP00000265827:V416A;ENSP00000376988:V416A	.	V	-	2	0	ZNF800	126801379	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.620000	0.54203	2.222000	0.72286	0.477000	0.44152	GTA		0.358	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		28	41	0	0	0	1	0	28	41				
NBPF14	25832	broad.mit.edu	37	1	148009407	148009407	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:148009407G>A	ENST00000369219.1	-	16	1916	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	634	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CTTCTGTAGGGCTGGCATGAG	0.473																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1900-1902)Ccc>Tcc		neuroblastoma breakpoint family, member 14							99.0	199.0	170.0					1																	148009407		1639	4050	5689	SO:0001583	missense	25832					cytoplasm		g.chr1:148009407G>A	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1900C>T	1.37:g.148009407G>A	ENSP00000358221:p.Pro634Ser						p.P634S			Q5TI25	NBPFE_HUMAN			16	1916	-	all_hematologic(923;0.032)		634			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1900C>T		.	.	.	.	.	.	.	.	.	.	g	5.953	0.359851	0.11296	.	.	ENSG00000122497	ENST00000369219;ENST00000434489	T	0.09911	2.93	.	.	.	DUF1220 (2);	.	.	.	.	T	0.07548	0.0190	M	0.70595	2.14	0.09310	N	1	.	.	.	.	.	.	T	0.25606	-1.0127	3	.	.	.	.	.	.	.	.	634	Q5TI25	NBPFE_HUMAN	S	634;224	ENSP00000358221:P634S	.	P	-	1	0	NBPF14	146476031	0.985000	0.35326	.	.	.	.	-1.081000	0.03403	.	.	.	.	CCC		0.473	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		25	425	0	0	0	1	0	25	425				
ATXN7L3	56970	broad.mit.edu	37	17	42272160	42272160	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:42272160C>T	ENST00000454077.2	-	10	733	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.R238Q	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAAATAAATCCGTACGGTTCG	0.577																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(712-714)cGg>cAg		ataxin 7-like 3							29.0	33.0	32.0					17																	42272160		1999	4170	6169	SO:0001583	missense	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42272160C>T	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.734G>A	17.37:g.42272160C>T	ENSP00000397259:p.Arg245Gln					ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.R245Q	p.R238Q	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	10	1021	-		Breast(137;0.00765)|Prostate(33;0.0181)	238			SCA7.			Missense_Mutation	SNP	ENST00000454077.2	37	c.713G>A	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672548	0.96754	.	.	ENSG00000087152	ENST00000454077;ENST00000389384;ENST00000541672	.	.	.	4.51	4.51	0.55191	SCA7 domain (1);	0.060685	0.64402	D	0.000006	T	0.60728	0.2291	L	0.52905	1.665	0.46749	D	0.999181	D;D	0.56521	0.962;0.976	P;P	0.48334	0.555;0.574	T	0.67193	-0.5732	9	0.66056	D	0.02	.	16.1612	0.81712	0.0:1.0:0.0:0.0	.	238;245	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	Q	245;238;20	.	ENSP00000374035:R238Q	R	-	2	0	ATXN7L3	39627686	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.502000	0.66956	2.334000	0.79466	0.561000	0.74099	CGG		0.577	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			12	21	0	0	0	1	0	12	21				
MORC4	79710	broad.mit.edu	37	X	106184836	106184836	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:106184836C>T	ENST00000355610.4	-	17	2961	c.2687G>A	c.(2686-2688)cGt>cAt	p.R896H	MORC4_ENST00000535534.1_Silent_p.T631T|MORC4_ENST00000255495.7_Silent_p.T883T	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	896						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GACGTGGATACGTAGCCGCGT	0.498																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(2686-2688)cGt>cAt		MORC family CW-type zinc finger 4							128.0	99.0	108.0					X																	106184836		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106184836C>T	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.2687G>A	X.37:g.106184836C>T	ENSP00000347821:p.Arg896His					MORC4_ENST00000255495.7_Silent_p.T883T|MORC4_ENST00000535534.1_Silent_p.T631T	p.R896H	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN			17	2961	-			896					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.2687G>A	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	c	18.04	3.533849	0.64972	.	.	ENSG00000133131	ENST00000355610	T	0.44881	0.91	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000025	T	0.60560	0.2278	M	0.68593	2.085	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.64659	-0.6355	10	0.87932	D	0	-7.103	12.9085	0.58166	0.0:1.0:0.0:0.0	.	896	Q8TE76	MORC4_HUMAN	H	896	ENSP00000347821:R896H	ENSP00000347821:R896H	R	-	2	0	MORC4	106071492	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.264000	0.58859	2.104000	0.64026	0.431000	0.28591	CGT		0.498	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		19	38	0	0	0	1	0	19	38				
LINC00174	285908	broad.mit.edu	37	7	65842378	65842378	+	lincRNA	SNP	G	G	T	rs548836454		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:65842378G>T	ENST00000421767.1	-	0	3354					NR_026873.1				long intergenic non-protein coding RNA 174																		AGAGGCCGACGGGAACCAGTT	0.716																																						ENST00000421767.1																			0																				10.0	13.0	12.0					7																	65842378		2181	4257	6438			0							g.chr7:65842378G>T	AK091213		7q11.21	2013-12-05	2013-12-05	2013-12-05	ENSG00000179406	ENSG00000179406		"""Long non-coding RNAs"""	27788	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 174"""	NCRNA00174			Standard	NR_026873		Approved		uc003tux.4		OTTHUMG00000156590		7.37:g.65842378G>T								NR_026873.1						0	3354	-									RNA	SNP	ENST00000421767.1	37																																																																																						0.716	LINC00174-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000344721.1	NR_026873		4	11	1	0	0.00909568	1	0.00916886	4	11				
FAM214A	56204	broad.mit.edu	37	15	52905907	52905907	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:52905907A>T	ENST00000261844.7	-	3	316	c.164T>A	c.(163-165)gTa>gAa	p.V55E	FAM214A_ENST00000546305.2_Missense_Mutation_p.V62E	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	55								p.V55E(1)									TTTGGTAGTTACTGGGTAACA	0.408																																						ENST00000261844.7																			1	Substitution - Missense(1)	p.V55E(1)	breast(1)								c.(163-165)gTa>gAa		family with sequence similarity 214, member A							126.0	121.0	123.0					15																	52905907		1917	4151	6068	SO:0001583	missense	56204							g.chr15:52905907A>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.164T>A	15.37:g.52905907A>T	ENSP00000261844:p.Val55Glu					FAM214A_ENST00000546305.2_Missense_Mutation_p.V62E	p.V55E	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			3	316	-			55					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.164T>A	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543124	0.45280	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.31247	1.5;1.5	6.01	-2.48	0.06423	.	0.850867	0.10806	N	0.632141	T	0.17492	0.0420	L	0.38175	1.15	0.20638	N	0.999876	B;B	0.32071	0.355;0.242	B;B	0.32980	0.156;0.075	T	0.31696	-0.9934	10	0.02654	T	1	.	7.8916	0.29682	0.2259:0.4893:0.2848:0.0	.	62;55	F5H8G0;Q32MH5	.;K1370_HUMAN	E	55;55;54;62	ENSP00000261844:V55E;ENSP00000443598:V62E	ENSP00000261844:V55E	V	-	2	0	KIAA1370	50693199	0.437000	0.25593	0.251000	0.24312	0.998000	0.95712	0.505000	0.22642	-0.716000	0.04962	0.523000	0.50628	GTA		0.408	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		13	20	0	0	0	1	0	13	20				
FAM193B	54540	broad.mit.edu	37	5	176963600	176963600	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176963600G>A	ENST00000514747.1	-	4	883	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000443375.2_Missense_Mutation_p.P166S|FAM193B_ENST00000329540.5_5'UTR	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	279	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						GGGGTGGTGGGCAGCAGGTGT	0.667																																						ENST00000443375.2																			0				kidney(1)|large_intestine(3)	4						c.(496-498)Ccc>Tcc		family with sequence similarity 193, member B							14.0	16.0	15.0					5																	176963600		1979	4132	6111	SO:0001583	missense	54540							g.chr5:176963600G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.835C>T	5.37:g.176963600G>A	ENSP00000422131:p.Pro279Ser					FAM193B_ENST00000514747.1_Missense_Mutation_p.P279S|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000329540.5_5'UTR	p.P166S			Q6IPW0	Q6IPW0_HUMAN			5	2054	-			226					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.496C>T	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249835	0.39797	.	.	ENSG00000146067	ENST00000514747;ENST00000443375	T;T	0.71579	-0.58;-0.58	5.35	4.48	0.54585	.	.	.	.	.	T	0.49253	0.1546	L	0.27053	0.805	0.80722	D	1	B	0.23377	0.084	B	0.20184	0.028	T	0.33394	-0.9870	9	0.09338	T	0.73	-5.5259	4.4915	0.11815	0.2352:0.0:0.5945:0.1703	.	166	E9PEZ8	.	S	279;166	ENSP00000422131:P279S;ENSP00000410098:P166S	ENSP00000410098:P166S	P	-	1	0	FAM193B	176896206	1.000000	0.71417	0.978000	0.43139	0.968000	0.65278	3.557000	0.53741	1.258000	0.44101	0.563000	0.77884	CCC		0.667	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		9	12	0	0	0	1	0	9	12				
FER1L6	654463	broad.mit.edu	37	8	125072512	125072512	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:125072512T>C	ENST00000522917.1	+	23	3172	c.2966T>C	c.(2965-2967)cTg>cCg	p.L989P	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.L989P|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	989						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CGGCCGGTGCTGAGCAAATAC	0.587																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2965-2967)cTg>cCg		fer-1-like 6 (C. elegans)							83.0	91.0	89.0					8																	125072512		2203	4300	6503	SO:0001583	missense	654463					integral to membrane		g.chr8:125072512T>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2966T>C	8.37:g.125072512T>C	ENSP00000428280:p.Leu989Pro					FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.L989P	p.L989P	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		23	3172	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		989						Missense_Mutation	SNP	ENST00000522917.1	37	c.2966T>C	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.368883	0.82463	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81739	-1.53;-1.53	5.65	5.65	0.86999	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000009	D	0.91331	0.7266	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93056	0.6470	10	0.87932	D	0	-8.6381	15.534	0.75986	0.0:0.0:0.0:1.0	.	989	Q2WGJ9	FR1L6_HUMAN	P	989	ENSP00000428280:L989P;ENSP00000381982:L989P	ENSP00000381982:L989P	L	+	2	0	FER1L6	125141693	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.528000	0.81941	2.163000	0.67991	0.533000	0.62120	CTG		0.587	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		118	54	0	0	0	1	0	118	54				
RANGAP1	5905	broad.mit.edu	37	22	41654017	41654017	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:41654017G>A	ENST00000455915.2	-	6	2178	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	RANGAP1_ENST00000407260.4_Silent_p.L182L|RANGAP1_ENST00000405486.1_Silent_p.L237L|RANGAP1_ENST00000356244.3_Silent_p.L237L			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	237					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCGCAGCAGGGGGTTGACA	0.627																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(709-711)Ctg>Ttg		Ran GTPase activating protein 1							85.0	79.0	81.0					22																	41654017		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41654017G>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.709C>T	22.37:g.41654017G>A						RANGAP1_ENST00000356244.3_Silent_p.L237L|RANGAP1_ENST00000405486.1_Silent_p.L237L|RANGAP1_ENST00000407260.4_Silent_p.L182L	p.L237L			P46060	RAGP1_HUMAN			6	2178	-			237					Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.709C>T	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	G	3.647	-0.072377	0.07228	.	.	ENSG00000100401	ENST00000446258	T	0.53857	0.6	5.57	3.49	0.39957	.	.	.	.	.	T	0.53753	0.1816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46830	-0.9163	5	.	.	.	-10.9765	8.7072	0.34363	0.2879:0.0:0.7121:0.0	.	.	.	.	L	132	ENSP00000393407:P132L	.	P	-	2	0	RANGAP1	39983963	0.125000	0.22332	1.000000	0.80357	0.321000	0.28281	0.463000	0.21972	0.720000	0.32209	-0.258000	0.10820	CCT		0.627	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		35	36	0	0	0	1	0	35	36				
CDH20	28316	broad.mit.edu	37	18	59221723	59221723	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:59221723A>G	ENST00000262717.4	+	12	2599	c.2201A>G	c.(2200-2202)gAc>gGc	p.D734G	CDH20_ENST00000536675.2_Missense_Mutation_p.D734G|CDH20_ENST00000538374.1_Missense_Mutation_p.D734G			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	734					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TACGAGGCCGACATGGACCTG	0.647																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(2200-2202)gAc>gGc		cadherin 20, type 2							39.0	31.0	34.0					18																	59221723		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221723A>G	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2201A>G	18.37:g.59221723A>G	ENSP00000262717:p.Asp734Gly					CDH20_ENST00000538374.1_Missense_Mutation_p.D734G|CDH20_ENST00000536675.2_Missense_Mutation_p.D734G	p.D734G			Q9HBT6	CAD20_HUMAN			12	2599	+		Colorectal(73;0.186)	734					Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.2201A>G	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586167	0.86851	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.81330	-1.48;-1.48;-1.48	5.78	5.78	0.91487	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.91492	0.7314	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93088	0.6497	10	0.87932	D	0	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	734	Q9HBT6	CAD20_HUMAN	G	734	ENSP00000444767:D734G;ENSP00000442226:D734G;ENSP00000262717:D734G	ENSP00000262717:D734G	D	+	2	0	CDH20	57372703	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.333000	0.79357	0.533000	0.62120	GAC		0.647	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		10	12	0	0	0	1	0	10	12				
ACTR1A	10121	broad.mit.edu	37	10	104241927	104241927	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:104241927A>G	ENST00000369905.4	-	8	819	c.756T>C	c.(754-756)ggT>ggC	p.G252G	ACTR1A_ENST00000487599.1_Silent_p.G252G|RP11-18I14.11_ENST00000608017.1_RNA|ACTR1A_ENST00000446605.2_Silent_p.G205G|ACTR1A_ENST00000545684.1_Silent_p.G178G|ACTR1A_ENST00000470322.1_5'UTR	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	252					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		ATCGGGAAGGACCAATCTGCA	0.572																																						ENST00000369905.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13						c.(754-756)ggT>ggC		ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)							72.0	80.0	77.0					10																	104241927		2203	4300	6503	SO:0001819	synonymous_variant	10121				G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding	g.chr10:104241927A>G	X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"""ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"""			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.756T>C	10.37:g.104241927A>G						ACTR1A_ENST00000487599.1_Silent_p.G252G|ACTR1A_ENST00000446605.2_Silent_p.G205G|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000545684.1_Silent_p.G178G	p.G252G	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)	8	819	-		Colorectal(252;0.122)	252					B2R6B0|P42024	Silent	SNP	ENST00000369905.4	37	c.756T>C	CCDS7536.1																																																																																				0.572	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050053.1			51	150	0	0	0	1	0	51	150				
PXT1	222659	broad.mit.edu	37	6	36359628	36359628	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:36359628A>G	ENST00000454782.2	-	5	807	c.324T>C	c.(322-324)gaT>gaC	p.D108D	RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	108					positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											GATCTAGTGCATCTCTGCCAT	0.323																																						ENST00000454782.2																			0											c.(322-324)gaT>gaC		peroxisomal, testis specific 1							101.0	102.0	102.0					6																	36359628		2203	4300	6503	SO:0001819	synonymous_variant	222659					peroxisome		g.chr6:36359628A>G	AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.324T>C	6.37:g.36359628A>G						RP1-50J22.4_ENST00000411643.1_RNA	p.D108D	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN			5	807	-			25					J3KR74	Silent	SNP	ENST00000454782.2	37	c.324T>C	CCDS4820.2	.	.	.	.	.	.	.	.	.	.	A	5.424	0.263432	0.10294	.	.	ENSG00000179165	ENST00000459696	.	.	.	4.84	-6.84	0.01687	.	.	.	.	.	T	0.10294	0.0252	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29150	-1.0021	4	.	.	.	0.2944	7.5771	0.27942	0.2504:0.5119:0.2377:0.0	.	.	.	.	T	32	.	.	M	-	2	0	PXT1	36467606	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.145000	0.10265	-1.329000	0.02258	0.533000	0.62120	ATG		0.323	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357516.2	NM_152990		37	93	0	0	0	1	0	37	93				
LGALS9	3965	broad.mit.edu	37	17	25976006	25976006	+	Nonstop_Mutation	SNP	T	T	C	rs201620769		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:25976006T>C	ENST00000395473.2	+	11	2534	c.1066T>C	c.(1066-1068)Tag>Cag	p.*356Q	LGALS9_ENST00000313648.6_3'UTR|LGALS9_ENST00000413914.2_3'UTR|LGALS9_ENST00000302228.5_Nonstop_Mutation_p.*324Q|LGALS9_ENST00000310394.5_Nonstop_Mutation_p.*312Q	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	0					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TGTGCAGACATAGGCGGCTTC	0.627																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	ENST00000395473.2																			0				endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18						c.(1066-1068)Tag>Cag		lectin, galactoside-binding, soluble, 9							137.0	135.0	136.0					17																	25976006		2203	4300	6503	SO:0001578	stop_lost	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25976006T>C	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.1066T>C	17.37:g.25976006T>C	ENSP00000378856:p.*356Glnext*183					LGALS9_ENST00000413914.2_3'UTR|LGALS9_ENST00000313648.6_3'UTR|LGALS9_ENST00000310394.5_Nonstop_Mutation_p.*312Q|LGALS9_ENST00000302228.5_Nonstop_Mutation_p.*324Q	p.*356Q	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	11	2534	+	Lung NSC(42;0.0103)		0					A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Nonstop_Mutation	SNP	ENST00000395473.2	37	c.1066T>C	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	T	8.942	0.966049	0.18659	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394	.	.	.	3.82	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8944	0.47015	0.0:0.0:0.0:1.0	.	.	.	.	Q	356;324;312	.	.	X	+	1	0	LGALS9	23000133	0.840000	0.29493	0.612000	0.29024	0.193000	0.23685	3.613000	0.54152	1.498000	0.48600	0.374000	0.22700	TAG		0.627	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		72	121	0	0	0	1	0	72	121				
ARHGAP27	201176	broad.mit.edu	37	17	43474152	43474152	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:43474152C>T	ENST00000428638.1	-	12	1955	c.1956G>A	c.(1954-1956)gcG>gcA	p.A652A	CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000532891.2_Silent_p.A630A|ARHGAP27_ENST00000528384.1_Silent_p.A284A|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000455881.1_Silent_p.A311A|ARHGAP27_ENST00000442348.1_Silent_p.A625A|ARHGAP27_ENST00000376922.2_Silent_p.A311A|ARHGAP27_ENST00000532038.1_Silent_p.A430A			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	652					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCAGGGCGGGCGCGGCTGCCG	0.716																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(1288-1290)gcG>gcA		Rho GTPase activating protein 27							15.0	18.0	17.0					17																	43474152		2196	4284	6480	SO:0001819	synonymous_variant	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43474152C>T	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1956G>A	17.37:g.43474152C>T						ARHGAP27_ENST00000455881.1_Silent_p.A311A|ARHGAP27_ENST00000528384.1_Silent_p.A284A|ARHGAP27_ENST00000428638.1_Silent_p.A652A|ARHGAP27_ENST00000442348.1_Silent_p.A625A|ARHGAP27_ENST00000532891.2_Silent_p.A630A|ARHGAP27_ENST00000376922.2_Silent_p.A311A	p.A430A			Q6ZUM4	RHG27_HUMAN			11	1425	-	Renal(3;0.0405)		652			WW 3.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Silent	SNP	ENST00000428638.1	37	c.1290G>A																																																																																					0.716	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		9	25	0	0	0	1	0	9	25				
IPO7	10527	broad.mit.edu	37	11	9452491	9452491	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:9452491G>A	ENST00000379719.3	+	16	1964	c.1822G>A	c.(1822-1824)Gct>Act	p.A608T	SNORA23_ENST00000365128.1_RNA|CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	608					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGCAGTTACTGCTATGGGAAT	0.363																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1822-1824)Gct>Act		importin 7							102.0	93.0	96.0					11																	9452491		2201	4295	6496	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9452491G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1822G>A	11.37:g.9452491G>A	ENSP00000369042:p.Ala608Thr					CTD-2371O3.2_ENST00000531111.1_RNA	p.A608T	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	16	1964	+			608					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.1822G>A	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672686	0.96754	.	.	ENSG00000205339	ENST00000379719	T	0.67523	-0.27	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.86199	0.1617	10	0.49607	T	0.09	.	19.4518	0.94871	0.0:0.0:1.0:0.0	.	608	O95373	IPO7_HUMAN	T	608	ENSP00000369042:A608T	ENSP00000369042:A608T	A	+	1	0	IPO7	9409067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.615000	0.88500	0.650000	0.86243	GCT		0.363	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		25	27	0	0	0	1	0	25	27				
MAPK8IP1	9479	broad.mit.edu	37	11	45924624	45924624	+	Missense_Mutation	SNP	C	C	T	rs375735836		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:45924624C>T	ENST00000241014.2	+	5	1476	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	RP11-618K13.2_ENST00000533218.1_RNA|MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.R426W	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	436	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GGAGGCCCCGCGGCCCCAGCC	0.602																																						ENST00000395629.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(1276-1278)Cgg>Tgg		mitogen-activated protein kinase 8 interacting protein 1		C	TRP/ARG	1,4405		0,1,2202	27.0	31.0	30.0		1306	4.0	1.0	11		30	0,8598		0,0,4299	no	missense	MAPK8IP1	NM_005456.3	101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	436/712	45924624	1,13003	2203	4299	6502	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45924624C>T		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1306C>T	11.37:g.45924624C>T	ENSP00000241014:p.Arg436Trp					MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R436W	p.R426W			Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	5	1606	+			436					D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.1276C>T	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774699	0.70107	2.27E-4	0.0	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.24151	1.87;1.87	4.98	4.04	0.47022	Src homology-3 domain (1);	0.435017	0.23241	N	0.050352	T	0.32346	0.0826	L	0.44542	1.39	0.37080	D	0.898946	D	0.64830	0.994	P	0.50192	0.634	T	0.41052	-0.9530	10	0.72032	D	0.01	-11.0426	15.2271	0.73359	0.0:0.8587:0.1412:0.0	.	436	Q9UQF2	JIP1_HUMAN	W	436;426	ENSP00000241014:R436W;ENSP00000378991:R426W	ENSP00000241014:R436W	R	+	1	2	MAPK8IP1	45881200	0.872000	0.30054	0.995000	0.50966	0.981000	0.71138	0.114000	0.15520	1.272000	0.44329	0.561000	0.74099	CGG		0.602	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		18	32	0	0	0	1	0	18	32				
RAB11A	8766	broad.mit.edu	37	15	66170108	66170108	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:66170108G>A	ENST00000261890.2	+	3	373	c.245G>A	c.(244-246)cGt>cAt	p.R82H	RAB11A_ENST00000569896.1_Missense_Mutation_p.R82H|RAB11A_ENST00000565075.1_Missense_Mutation_p.R82H|RAB11A_ENST00000564910.1_Intron|RAB11A_ENST00000435304.2_Missense_Mutation_p.R82H	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	82					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGATATTATCGTGGAGCTGTA	0.358																																						ENST00000261890.2																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(244-246)cGt>cAt		RAB11A, member RAS oncogene family							96.0	91.0	93.0					15																	66170108		2201	4299	6500	SO:0001583	missense	8766				cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding	g.chr15:66170108G>A	X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"""RAB, member RAS oncogene"""	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.245G>A	15.37:g.66170108G>A	ENSP00000261890:p.Arg82His					RAB11A_ENST00000435304.2_Missense_Mutation_p.R82H|RAB11A_ENST00000564910.1_Intron|RAB11A_ENST00000565075.1_Missense_Mutation_p.R82H|RAB11A_ENST00000569896.1_Missense_Mutation_p.R82H	p.R82H	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN			3	373	+			82					B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	ENST00000261890.2	37	c.245G>A	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197708	0.94997	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	D;D	0.82255	-1.59;-1.59	5.27	5.27	0.74061	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86205	0.5877	M	0.72118	2.19	0.80722	D	1	P;D	0.59767	0.85;0.986	B;P	0.47891	0.199;0.56	D	0.88462	0.3056	10	0.87932	D	0	.	18.8814	0.92357	0.0:0.0:1.0:0.0	.	82;82	B4DT13;P62491	.;RB11A_HUMAN	H	82	ENSP00000261890:R82H;ENSP00000405767:R82H	ENSP00000261890:R82H	R	+	2	0	RAB11A	63957162	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.457000	0.83068	0.655000	0.94253	CGT		0.358	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1			17	48	0	0	0	1	0	17	48				
ILDR2	387597	broad.mit.edu	37	1	166890248	166890248	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:166890248G>A	ENST00000271417.3	-	9	1635	c.1580C>T	c.(1579-1581)tCg>tTg	p.S527L	ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.S400L|ILDR2_ENST00000529071.1_Missense_Mutation_p.S508L|ILDR2_ENST00000528703.1_Missense_Mutation_p.S468L|ILDR2_ENST00000526687.1_Missense_Mutation_p.S419L|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	527					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCCCAGGTACGAGTGGTCGTA	0.776																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1579-1581)tCg>tTg		immunoglobulin-like domain containing receptor 2							3.0	4.0	3.0					1																	166890248		1347	2976	4323	SO:0001583	missense	387597					integral to membrane		g.chr1:166890248G>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1580C>T	1.37:g.166890248G>A	ENSP00000271417:p.Ser527Leu					ILDR2_ENST00000528703.1_Missense_Mutation_p.S468L|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.S400L|ILDR2_ENST00000529071.1_Missense_Mutation_p.S508L|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.S419L	p.S527L	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN			9	1635	-			527						Missense_Mutation	SNP	ENST00000271417.3	37	c.1580C>T	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344624	0.61073	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T	0.78707	0.46;-1.17;0.45;-1.2;-0.19	4.55	3.63	0.41609	.	0.867054	0.10225	N	0.700372	T	0.56187	0.1968	L	0.47716	1.5	0.32090	N	0.592014	B	0.24426	0.103	B	0.17098	0.017	T	0.41378	-0.9512	9	0.30854	T	0.27	.	12.6948	0.56997	0.0809:0.0:0.9191:0.0	.	527	Q71H61	ILDR2_HUMAN	L	527;400;508;419;468	ENSP00000271417:S527L;ENSP00000436120:S400L;ENSP00000436882:S508L;ENSP00000434273:S419L;ENSP00000432750:S468L	ENSP00000271417:S527L	S	-	2	0	ILDR2	165156872	1.000000	0.71417	0.001000	0.08648	0.904000	0.53231	4.696000	0.61774	0.888000	0.36160	0.561000	0.74099	TCG		0.776	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		3	7	0	0	0	1	0	3	7				
ANKHD1	54882	broad.mit.edu	37	5	139906583	139906583	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:139906583C>T	ENST00000360839.2	+	27	5165	c.5011C>T	c.(5011-5013)Cca>Tca	p.P1671S	ANKHD1_ENST00000544120.1_Missense_Mutation_p.P54S|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.P1671S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1671S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1671						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTAAGCTCTCCAAACATAAA	0.388																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(5011-5013)Cca>Tca		ankyrin repeat and KH domain containing 1							107.0	103.0	104.0					5																	139906583		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139906583C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5011C>T	5.37:g.139906583C>T	ENSP00000354085:p.Pro1671Ser					ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1671S|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P54S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1671S	p.P1671S	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		27	5135	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.5011C>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.120750|4.120750	0.77436|0.77436	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T;T|T;T	0.24350|0.26518	1.86;1.86;1.86;1.86;1.86;1.86|1.73;1.73	5.66|5.66	3.9|3.9	0.45041|0.45041	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40932|0.40932	0.1137|0.1137	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	B;D;D;D;D|.	0.89917|.	0.001;1.0;1.0;1.0;1.0|.	B;D;D;D;D|.	0.80764|.	0.003;0.994;0.994;0.994;0.994|.	T|T	0.32745|0.32745	-0.9895|-0.9895	10|7	0.51188|0.87932	T|D	0.08|0	.|.	14.8952|14.8952	0.70639|0.70639	0.0:0.9205:0.0:0.0795|0.0:0.9205:0.0:0.0795	.|.	54;101;1671;1671;1671|.	Q8IWG5;Q9H059;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	S|F	1671;1671;1671;327;106;193;54;1671|161;121	ENSP00000354085:P1671S;ENSP00000297183:P1671S;ENSP00000393204:P327S;ENSP00000390034:P193S;ENSP00000437687:P54S;ENSP00000432016:P1671S|ENSP00000410959:S161F;ENSP00000415887:S121F	ENSP00000432016:P1671S|ENSP00000415887:S121F	P|S	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139886767|139886767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.196000|2.196000	0.42686|0.42686	0.787000|0.787000	0.33731|0.33731	0.644000|0.644000	0.83932|0.83932	CCA|TCC		0.388	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		15	77	0	0	0	1	0	15	77				
ZC3H18	124245	broad.mit.edu	37	16	88643557	88643557	+	Missense_Mutation	SNP	G	G	A	rs562706352		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:88643557G>A	ENST00000301011.5	+	2	226	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R9Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	9						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R9L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGCCCTGAACGGGATCCTCAC	0.547																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			1	Substitution - Missense(1)	p.R9L(1)	lung(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(25-27)cGg>cAg		zinc finger CCCH-type containing 18							41.0	43.0	42.0					16																	88643557		2198	4299	6497	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88643557G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.26G>A	16.37:g.88643557G>A	ENSP00000301011:p.Arg9Gln					ZC3H18_ENST00000452588.2_Missense_Mutation_p.R9Q	p.R9Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	2	226	+			9					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.26G>A	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	g	16.01	3.002777	0.54254	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.28895	1.62;1.59	5.57	2.51	0.30379	.	0.192205	0.47455	N	0.000236	T	0.20495	0.0493	L	0.44542	1.39	0.22199	N	0.999297	B;B;B	0.12013	0.005;0.001;0.005	B;B;B	0.08055	0.003;0.002;0.003	T	0.17653	-1.0362	10	0.35671	T	0.21	-6.6997	3.3428	0.07124	0.2011:0.1143:0.5604:0.1242	.	9;9;9	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	Q	9	ENSP00000301011:R9Q;ENSP00000416951:R9Q	ENSP00000289509:R9Q	R	+	2	0	ZC3H18	87171058	0.869000	0.29996	0.993000	0.49108	0.919000	0.55068	0.443000	0.21644	0.289000	0.22422	-0.215000	0.12644	CGG		0.547	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		25	44	0	0	0	1	0	25	44				
ATP11C	286410	broad.mit.edu	37	X	138882232	138882232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:138882232C>A	ENST00000327569.3	-	8	804	c.706G>T	c.(706-708)Gag>Tag	p.E236*	ATP11C_ENST00000359686.2_Nonsense_Mutation_p.E236*|ATP11C_ENST00000460773.1_5'Flank|ATP11C_ENST00000370557.1_Nonsense_Mutation_p.E233*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.E236*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.E236*	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	236					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCAACAGCCTCAAGACTATTA	0.368																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(697-699)Gag>Tag		ATPase, class VI, type 11C							73.0	68.0	70.0					X																	138882232		2203	4300	6503	SO:0001587	stop_gained	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138882232C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.706G>T	X.37:g.138882232C>A	ENSP00000332756:p.Glu236*					ATP11C_ENST00000359686.2_Nonsense_Mutation_p.E236*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.E236*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.E236*|ATP11C_ENST00000327569.3_Nonsense_Mutation_p.E236*	p.E233*			Q8NB49	AT11C_HUMAN			8	1724	-	Acute lymphoblastic leukemia(192;0.000127)		236					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Nonsense_Mutation	SNP	ENST00000327569.3	37	c.697G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	38	7.213490	0.98139	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.	.	.	5.88	5.02	0.67125	.	0.482216	0.24178	N	0.040828	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	13.1366	0.59413	0.0:0.9219:0.0:0.0781	.	.	.	.	X	233;236;236;236;236	.	ENSP00000332756:E236X	E	-	1	0	ATP11C	138709898	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	5.048000	0.64238	1.233000	0.43693	0.600000	0.82982	GAG		0.368	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		35	68	1	0	2.40579e-17	1	2.60801e-17	35	68				
NRAP	4892	broad.mit.edu	37	10	115410306	115410306	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:115410306T>C	ENST00000359988.3	-	8	920		c.e8-2		NRAP_ENST00000360478.3_Splice_Site|NRAP_ENST00000369358.4_Splice_Site|NRAP_ENST00000369360.3_Splice_Site	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTATCTCACCTGAAATGAAAA	0.458																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.e8-2		nebulin-related anchoring protein							111.0	94.0	100.0					10																	115410306		2203	4300	6503	SO:0001630	splice_region_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115410306T>C		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.676-2A>G	10.37:g.115410306T>C						NRAP_ENST00000369360.3_Splice_Site|NRAP_ENST00000359988.3_Splice_Site|NRAP_ENST00000360478.3_Splice_Site				Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	8	920	-		Colorectal(252;0.0233)|Breast(234;0.188)							Splice_Site	SNP	ENST00000359988.3	37		CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.819695	0.71028	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRAP	115400296	1.000000	0.71417	0.973000	0.42090	0.800000	0.45204	5.219000	0.65262	2.371000	0.80710	0.533000	0.62120	.		0.458	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	Intron	19	41	0	0	0	1	0	19	41				
JMJD4	65094	broad.mit.edu	37	1	227922791	227922791	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:227922791T>C	ENST00000366758.3	-	1	321	c.322A>G	c.(322-324)Acg>Gcg	p.T108A	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000366759.4_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.T108A|JMJD4_ENST00000485807.1_5'Flank|SNAP47_ENST00000315781.5_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	108										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CAGCCCTGCGTGAAGGCGCTG	0.721																																						ENST00000366758.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(322-324)Acg>Gcg		jumonji domain containing 4							3.0	4.0	4.0					1																	227922791		1792	3730	5522	SO:0001583	missense	65094							g.chr1:227922791T>C	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.322A>G	1.37:g.227922791T>C	ENSP00000355720:p.Thr108Ala					SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.T108A|SNAP47_ENST00000366760.1_Intron	p.T108A	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN			1	321	-		Prostate(94;0.0885)	108					Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.322A>G	CCDS1561.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775254	0.70107	.	.	ENSG00000081692	ENST00000366758	T	0.21361	2.01	5.07	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	L	0.56199	1.76	0.52501	D	0.999957	P;P	0.45126	0.851;0.771	P;P	0.49829	0.623;0.579	T	0.01360	-1.1375	10	0.33940	T	0.23	-37.8018	8.2836	0.31915	0.0:0.0944:0.0:0.9056	.	108;108	Q9H9V9-2;Q9H9V9	.;JMJD4_HUMAN	A	108	ENSP00000355720:T108A	ENSP00000355720:T108A	T	-	1	0	JMJD4	225989414	1.000000	0.71417	0.996000	0.52242	0.267000	0.26476	5.080000	0.64437	1.899000	0.54978	0.443000	0.29094	ACG		0.721	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		4	16	0	0	0	1	0	4	16				
MFI2	4241	broad.mit.edu	37	3	196733483	196733483	+	Silent	SNP	G	G	A	rs373843781		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:196733483G>A	ENST00000296350.5	-	14	1988	c.1875C>T	c.(1873-1875)caC>caT	p.H625H	MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000424769.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	625	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCATCACGGCGTGGGGTGGTA	0.627													A|||	1	0.000199681	0.0008	0.0	5008	,	,		14854	0.0		0.0	False		,,,				2504	0.0					ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1873-1875)caC>caT		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5		A		1,4405	825.8+/-416.5	0,1,2202	73.0	69.0	70.0		1875	-10.5	0.0	3		70	0,8600		0,0,4300	no	coding-synonymous	MFI2	NM_005929.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		625/739	196733483	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196733483G>A		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1875C>T	3.37:g.196733483G>A							p.H625H	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	14	1988	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		625			Transferrin-like 2.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.1875C>T	CCDS3325.1																																																																																				0.627	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			17	39	0	0	0	1	0	17	39				
KIF1B	23095	broad.mit.edu	37	1	10364532	10364532	+	Intron	SNP	C	C	T	rs146807975		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:10364532C>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377081.1_Intron|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377093.4_Missense_Mutation_p.R1097C|KIF1B_ENST00000377083.1_Missense_Mutation_p.R1097C|KIF1B_ENST00000263934.6_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCATCAACACCGTCAGTCTTA	0.507																																						ENST00000377093.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3289-3291)Cgt>Tgt		kinesin family member 1B		C	,CYS/ARG	0,4406		0,0,2203	72.0	67.0	69.0		,3289	5.7	1.0	1	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	KIF1B	NM_015074.3,NM_183416.3	,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	,1097/1154	10364532	2,13004	2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10364532C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7228C>T	1.37:g.10364532C>T						KIF1B_ENST00000377083.1_Missense_Mutation_p.R1097C|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron	p.R1097C	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	3442	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3289C>T		.	.	.	.	.	.	.	.	.	.	C	14.22	2.471285	0.43942	0.0	2.33E-4	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.74947	-0.89;-0.89	5.72	5.72	0.89469	.	.	.	.	.	T	0.76955	0.4060	.	.	.	0.80722	D	1	D	0.63880	0.993	P	0.47705	0.555	T	0.79843	-0.1632	8	0.66056	D	0.02	.	15.3847	0.74687	0.0:0.8614:0.1386:0.0	.	1097	O60333-3	.	C	1097	ENSP00000366297:R1097C;ENSP00000366287:R1097C	ENSP00000366287:R1097C	R	+	1	0	KIF1B	10287119	0.994000	0.37717	0.994000	0.49952	0.937000	0.57800	3.297000	0.51810	2.691000	0.91804	0.655000	0.94253	CGT		0.507	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			39	59	0	0	0	1	0	39	59				
SLC17A5	26503	broad.mit.edu	37	6	74363524	74363524	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:74363524G>A	ENST00000355773.5	-	1	354	c.86C>T	c.(85-87)gCc>gTc	p.A29V	SLC17A5_ENST00000393019.3_Missense_Mutation_p.A29V	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	29					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACCGGCTTCGGCCCGTGGGGC	0.726																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(85-87)gCc>gTc		solute carrier family 17 (acidic sugar transporter), member 5							8.0	10.0	9.0					6																	74363524		2104	4180	6284	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74363524G>A	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.86C>T	6.37:g.74363524G>A	ENSP00000348019:p.Ala29Val					SLC17A5_ENST00000393019.3_Missense_Mutation_p.A29V	p.A29V	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			1	354	-			29					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.86C>T	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	6.158	0.397349	0.11638	.	.	ENSG00000119899	ENST00000355773;ENST00000393019	T;T	0.59638	0.25;0.25	4.34	-0.0321	0.13906	Major facilitator superfamily domain, general substrate transporter (1);	24.022100	0.00496	N	0.000156	T	0.12944	0.0314	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05835	-1.0861	10	0.16420	T	0.52	.	4.2948	0.10895	0.3301:0.2237:0.4462:0.0	.	29	Q9NRA2	S17A5_HUMAN	V	29	ENSP00000348019:A29V;ENSP00000376742:A29V	ENSP00000348019:A29V	A	-	2	0	SLC17A5	74420245	0.003000	0.15002	0.198000	0.23420	0.005000	0.04900	0.494000	0.22467	0.144000	0.18951	-0.258000	0.10820	GCC		0.726	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			13	4	0	0	0	1	0	13	4				
HIF3A	64344	broad.mit.edu	37	19	46815488	46815488	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:46815488C>T	ENST00000377670.4	+	7	872	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	HIF3A_ENST00000300862.3_Silent_p.L279L|HIF3A_ENST00000244303.6_Silent_p.L212L|HIF3A_ENST00000472815.1_Silent_p.L212L|HIF3A_ENST00000420102.2_Silent_p.L230L|HIF3A_ENST00000339613.2_Silent_p.L225L|HIF3A_ENST00000600383.1_Silent_p.L212L|HIF3A_ENST00000525854.1_3'UTR	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	281	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CATCCACGCGCTGGACTCCGA	0.612																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(673-675)Ctg>Ttg		hypoxia inducible factor 3, alpha subunit							132.0	118.0	123.0					19																	46815488		2203	4300	6503	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46815488C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.841C>T	19.37:g.46815488C>T						HIF3A_ENST00000300862.3_Silent_p.L279L|HIF3A_ENST00000244303.6_Silent_p.L212L|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Silent_p.L230L|HIF3A_ENST00000600383.1_Silent_p.L212L|HIF3A_ENST00000472815.1_Silent_p.L212L|HIF3A_ENST00000377670.4_Silent_p.L281L	p.L225L			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	7	928	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	281					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	37	c.673C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	5.378	0.254994	0.10185	.	.	ENSG00000124440	ENST00000472815	.	.	.	4.11	1.97	0.26223	.	.	.	.	.	T	0.59528	0.2200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60777	-0.7196	5	0.72032	D	0.01	.	4.975	0.14136	0.0:0.6355:0.0:0.3645	.	.	.	.	V	253	.	ENSP00000434653:A253V	A	+	2	0	HIF3A	51507328	0.839000	0.29477	0.910000	0.35882	0.472000	0.32918	1.585000	0.36600	1.041000	0.40125	0.591000	0.81541	GCT		0.612	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			58	86	0	0	0	1	0	58	86				
DLGAP2	9228	broad.mit.edu	37	8	1581004	1581004	+	Silent	SNP	G	G	A	rs527705861		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:1581004G>A	ENST00000421627.2	+	5	1496	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	533					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.A476A(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGAGCGAGGCGGAGATCAATG	0.572																																						ENST00000421627.2																			1	Substitution - coding silent(1)	p.A476A(1)	pancreas(1)	breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(1360-1362)gcG>gcA		discs, large (Drosophila) homolog-associated protein 2							109.0	115.0	113.0					8																	1581004		2183	4272	6455	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1581004G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1362G>A	8.37:g.1581004G>A							p.A454A	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	5	1496	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	533					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.1362G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	0.371	-0.933905	0.02340	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.06	-10.1	0.00402	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50550	-0.8815	4	.	.	.	-15.8913	2.5798	0.04816	0.4052:0.2479:0.0658:0.281	.	.	.	.	Q	471	.	.	R	+	2	0	DLGAP2	1568411	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-5.046000	0.00156	-3.988000	0.00084	-0.378000	0.06908	CGG		0.572	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		27	23	0	0	0	1	0	27	23				
FRMPD1	22844	broad.mit.edu	37	9	37740148	37740148	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:37740148C>T	ENST00000539465.1	+	15	2216	c.1623C>T	c.(1621-1623)gaC>gaT	p.D541D	FRMPD1_ENST00000377765.3_Silent_p.D541D|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.D363D|FRMPD1_ENST00000541302.1_Silent_p.D410D			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	541						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCTCTCTGACAGGCGCCTGG	0.587																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1621-1623)gaC>gaT		FERM and PDZ domain containing 1							67.0	74.0	72.0					9																	37740148		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740148C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1623C>T	9.37:g.37740148C>T						FRMPD1_ENST00000377765.3_Silent_p.D541D|FRMPD1_ENST00000536622.1_Silent_p.D363D|FRMPD1_ENST00000541302.1_Silent_p.D410D|RP11-613M10.9_ENST00000540557.1_Intron	p.D541D			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2216	+			541					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.1623C>T	CCDS6612.1																																																																																				0.587	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		49	88	0	0	0	1	0	49	88				
APOA5	116519	broad.mit.edu	37	11	116661100	116661100	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:116661100C>T	ENST00000227665.4	-	3	879	c.845G>A	c.(844-846)cGc>cAc	p.R282H	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.R282H			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	282					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		AAGTCGCTGGCGCACCTCCTC	0.652																																						ENST00000542499.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(844-846)cGc>cAc		apolipoprotein A-V							62.0	68.0	66.0					11																	116661100		2201	4296	6497	SO:0001583	missense	0				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661100C>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.845G>A	11.37:g.116661100C>T	ENSP00000227665:p.Arg282His					APOA5_ENST00000227665.4_Missense_Mutation_p.R282H	p.R282H	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	4	917	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	282					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.845G>A	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	9.030	0.987065	0.18889	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.74526	-0.85;-0.85	4.75	1.64	0.23874	Apolipoprotein/apolipophorin (1);	0.174969	0.29028	N	0.013369	T	0.62036	0.2395	L	0.47716	1.5	0.21627	N	0.999611	B;B	0.18310	0.027;0.027	B;B	0.17722	0.019;0.008	T	0.54214	-0.8327	10	0.51188	T	0.08	-14.6449	5.1968	0.15243	0.0:0.5376:0.0:0.4624	.	279;282	B0YIW1;Q6Q788	.;APOA5_HUMAN	H	282	ENSP00000227665:R282H;ENSP00000445002:R282H	ENSP00000227665:R282H	R	-	2	0	APOA5	116166310	0.811000	0.29063	0.985000	0.45067	0.340000	0.28889	1.152000	0.31663	0.601000	0.29879	0.655000	0.94253	CGC		0.652	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			50	75	0	0	0	1	0	50	75				
WNT5B	81029	broad.mit.edu	37	12	1748922	1748922	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:1748922G>A	ENST00000397196.2	+	4	633	c.401G>A	c.(400-402)cGc>cAc	p.R134H	WNT5B_ENST00000537031.1_Missense_Mutation_p.R134H|WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000310594.3_Missense_Mutation_p.R134H	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	134				R -> S (in Ref. 1; AAG38659). {ECO:0000305}.	cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CGGGCCTGCCGCGAGGGCGAG	0.731																																						ENST00000397196.2																			0				skin(1)	1						c.(400-402)cGc>cAc		wingless-type MMTV integration site family, member 5B							10.0	13.0	12.0					12																	1748922		2169	4157	6326	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1748922G>A	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.401G>A	12.37:g.1748922G>A	ENSP00000380379:p.Arg134His					WNT5B_ENST00000310594.3_Missense_Mutation_p.R134H|WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000537031.1_Missense_Mutation_p.R134H	p.R134H	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		4	633	+	Ovarian(42;0.107)		134	R -> S (in Ref. 1; AAG38659).				A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.401G>A	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878901	0.91740	.	.	ENSG00000111186	ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.88198	0.6372	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.89453	0.3731	9	.	.	.	.	16.3663	0.83325	0.0:0.0:1.0:0.0	.	134	Q9H1J7	WNT5B_HUMAN	H	134	ENSP00000445395:R134H;ENSP00000439312:R134H;ENSP00000308887:R134H;ENSP00000380379:R134H;ENSP00000442348:R134H	.	R	+	2	0	WNT5B	1619183	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.807000	0.86032	2.102000	0.63906	0.313000	0.20887	CGC		0.731	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			4	15	0	0	0	1	0	4	15				
ATP9A	10079	broad.mit.edu	37	20	50255979	50255979	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:50255979A>G	ENST00000338821.5	-	15	1835	c.1571T>C	c.(1570-1572)aTg>aCg	p.M524T	ATP9A_ENST00000402822.1_Missense_Mutation_p.M403T|ATP9A_ENST00000311637.5_Missense_Mutation_p.M388T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	524					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTCAGCTGCATGGAAGACTG	0.552											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1570-1572)aTg>aCg		ATPase, class II, type 9A							142.0	116.0	125.0					20																	50255979		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50255979A>G	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1571T>C	20.37:g.50255979A>G	ENSP00000342481:p.Met524Thr		OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	ATP9A_ENST00000402822.1_Missense_Mutation_p.M403T|ATP9A_ENST00000311637.5_Missense_Mutation_p.M388T	p.M524T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			15	1835	-			524					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1571T>C	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.036801	0.75617	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.62639	0.01;0.01;0.01	5.32	5.32	0.75619	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.035723	0.85682	D	0.000000	T	0.74816	0.3766	M	0.79614	2.46	0.80722	D	1	B;B	0.33940	0.065;0.433	B;P	0.47915	0.075;0.561	T	0.77795	-0.2454	10	0.87932	D	0	-32.2926	15.2837	0.73810	1.0:0.0:0.0:0.0	.	403;524	O75110-2;O75110	.;ATP9A_HUMAN	T	388;524;403	ENSP00000309086:M388T;ENSP00000342481:M524T;ENSP00000385875:M403T	ENSP00000309086:M388T	M	-	2	0	ATP9A	49689386	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.217000	0.95160	2.013000	0.59113	0.533000	0.62120	ATG		0.552	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		46	100	0	0	0	1	0	46	100				
KIAA1804	84451	broad.mit.edu	37	1	233515338	233515338	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:233515338A>G	ENST00000366624.3	+	9	2847	c.2586A>G	c.(2584-2586)tcA>tcG	p.S862S	MLK4_ENST00000366622.1_Silent_p.S308S	NM_032435.2	NP_115811.2																					GTAGTGTATCAAGAAACTTGC	0.498																																						ENST00000366624.3																			0											c.(2584-2586)tcA>tcG									98.0	87.0	91.0					1																	233515338		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233515338A>G																												ENST00000366624.3:c.2586A>G	1.37:g.233515338A>G						MLK4_ENST00000366622.1_Silent_p.S308S	p.S862S	NM_032435.2	NP_115811.2					9	2847	+									Silent	SNP	ENST00000366624.3	37	c.2586A>G	CCDS1598.1																																																																																				0.498	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			7	72	0	0	0	1	0	7	72				
MTUS1	57509	broad.mit.edu	37	8	17611442	17611442	+	Silent	SNP	G	G	A	rs201959113		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:17611442G>A	ENST00000262102.6	-	2	2099	c.1875C>T	c.(1873-1875)tgC>tgT	p.C625C	MTUS1_ENST00000381862.3_Silent_p.C625C|MTUS1_ENST00000519263.1_Silent_p.C625C|MTUS1_ENST00000381869.3_Silent_p.C625C	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	625					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ACCCGGTCTCGCATGCTGAGT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		17758	0.0		0.001	False		,,,				2504	0.0					ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(1873-1875)tgC>tgT		microtubule associated tumor suppressor 1							160.0	146.0	150.0					8																	17611442		1888	4116	6004	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611442G>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1875C>T	8.37:g.17611442G>A						MTUS1_ENST00000262102.6_Silent_p.C625C|MTUS1_ENST00000519263.1_Silent_p.C625C|MTUS1_ENST00000381862.3_Silent_p.C625C	p.C625C	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2348	-			625					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.1875C>T	CCDS43717.1																																																																																				0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		79	219	0	0	0	1	0	79	219				
MYBL2	4605	broad.mit.edu	37	20	42333926	42333926	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:42333926T>C	ENST00000217026.4	+	9	1560	c.1433T>C	c.(1432-1434)gTg>gCg	p.V478A	MYBL2_ENST00000396863.4_Missense_Mutation_p.V454A	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	478					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCACCCCAGTGTGCAGCCAG	0.557																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1432-1434)gTg>gCg		v-myb avian myeloblastosis viral oncogene homolog-like 2							98.0	83.0	88.0					20																	42333926		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42333926T>C		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1433T>C	20.37:g.42333926T>C	ENSP00000217026:p.Val478Ala					MYBL2_ENST00000396863.4_Missense_Mutation_p.V454A	p.V478A	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		9	1560	+		Myeloproliferative disorder(115;0.00452)	478					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1433T>C	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.728269	0.69074	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.48522	0.81;0.81	4.48	4.48	0.54585	C-myb, C-terminal (1);	0.130152	0.51477	D	0.000088	T	0.50582	0.1624	M	0.78049	2.395	0.80722	D	1	P;P	0.50819	0.843;0.939	B;B	0.42495	0.384;0.389	T	0.58912	-0.7552	10	0.48119	T	0.1	-18.0449	13.0978	0.59202	0.0:0.0:0.0:1.0	.	454;478	F8W6N6;P10244	.;MYBB_HUMAN	A	454;478	ENSP00000380072:V454A;ENSP00000217026:V478A	ENSP00000217026:V478A	V	+	2	0	MYBL2	41767340	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.589000	0.82641	1.805000	0.52779	0.459000	0.35465	GTG		0.557	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		28	67	0	0	0	1	0	28	67				
NAT16	375607	broad.mit.edu	37	7	100816662	100816662	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:100816662T>C	ENST00000300303.2	-	3	690	c.452A>G	c.(451-453)cAc>cGc	p.H151R	NAT16_ENST00000455377.1_Missense_Mutation_p.H151R	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	151	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										GACCCCCGGGTGCTGTCTCTT	0.692																																						ENST00000300303.2																			0											c.(451-453)cAc>cGc		N-acetyltransferase 16 (GCN5-related, putative)							30.0	32.0	31.0					7																	100816662		2201	4298	6499	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100816662T>C	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.452A>G	7.37:g.100816662T>C	ENSP00000300303:p.His151Arg					NAT16_ENST00000455377.1_Missense_Mutation_p.H151R	p.H151R	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN			3	690	-			151			N-acetyltransferase.		B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.452A>G	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	T	9.799	1.180021	0.21787	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446	T;T;T	0.43294	0.97;0.97;0.95	3.7	0.957	0.19613	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.388897	0.23139	N	0.051490	T	0.24470	0.0593	N	0.24115	0.695	0.80722	D	1	B	0.29716	0.255	B	0.20577	0.03	T	0.05566	-1.0877	10	0.72032	D	0.01	.	8.5612	0.33511	0.0:0.0:0.3772:0.6228	.	151	Q8N8M0	CG052_HUMAN	R	151	ENSP00000300303:H151R;ENSP00000395125:H151R;ENSP00000391769:H151R	ENSP00000300303:H151R	H	-	2	0	C7orf52	100603382	0.990000	0.36364	0.007000	0.13788	0.973000	0.67179	1.159000	0.31749	0.077000	0.16863	0.379000	0.24179	CAC		0.692	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		19	27	0	0	0	1	0	19	27				
GPR61	83873	broad.mit.edu	37	1	110086356	110086356	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:110086356G>T	ENST00000527748.1	+	2	1395	c.712G>T	c.(712-714)Gct>Tct	p.A238S	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCCCGCGTGGCTGCCATGCA	0.617																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(712-714)Gct>Tct		G protein-coupled receptor 61							116.0	126.0	123.0					1																	110086356		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086356G>T	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.712G>T	1.37:g.110086356G>T	ENSP00000432456:p.Ala238Ser					RP5-1160K1.8_ENST00000526411.1_RNA	p.A238S	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1395	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	238					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.712G>T	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488690	0.84962	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.36520	1.25	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51839	0.1698	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45934	-0.9227	10	0.46703	T	0.11	-17.3028	18.6533	0.91439	0.0:0.0:1.0:0.0	.	238	Q9BZJ8	GPR61_HUMAN	S	238;366	ENSP00000432456:A238S	ENSP00000286603:A366S	A	+	1	0	GPR61	109887879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.597000	0.98273	2.722000	0.93159	0.655000	0.94253	GCT		0.617	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			98	159	1	0	1.94071e-40	1	2.1933e-40	98	159				
OR1L1	26737	broad.mit.edu	37	9	125424190	125424190	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:125424190C>T	ENST00000373686.1	+	1	346	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	OR1L1_ENST00000309623.1_Silent_p.L66L			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCTAAGCATCCTGTCTTTTGT	0.453																																						ENST00000373686.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(346-348)Ctg>Ttg		olfactory receptor, family 1, subfamily L, member 1							159.0	151.0	154.0					9																	125424190		2203	4300	6503	SO:0001819	synonymous_variant	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424190C>T		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.346C>T	9.37:g.125424190C>T							p.L116L			Q8NH94	OR1L1_HUMAN			1	346	+			116					Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	37	c.346C>T																																																																																					0.453	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				44	75	0	0	0	1	0	44	75				
ACBD5	91452	broad.mit.edu	37	10	27494154	27494154	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:27494154C>T	ENST00000375888.1	-	11	1519	c.1455G>A	c.(1453-1455)ttG>ttA	p.L485L	ACBD5_ENST00000375905.4_Silent_p.L441L|ACBD5_ENST00000375901.1_Silent_p.L367L|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000396271.3_Silent_p.L476L|ACBD5_ENST00000375897.3_Silent_p.L299L			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	485					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GAGCAGTCTGCAATGTTGATG	0.313																																						ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1426-1428)ttG>ttA		acyl-CoA binding domain containing 5							135.0	136.0	135.0					10																	27494154		2203	4300	6503	SO:0001819	synonymous_variant	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27494154C>T	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1455G>A	10.37:g.27494154C>T						ACBD5_ENST00000375905.4_Silent_p.L441L|ACBD5_ENST00000375901.1_Silent_p.L367L|ACBD5_ENST00000375897.3_Silent_p.L299L|ACBD5_ENST00000375888.1_Silent_p.L485L|ACBD5_ENST00000476758.1_5'UTR	p.L476L	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			11	1554	-			485					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Silent	SNP	ENST00000375888.1	37	c.1428G>A																																																																																					0.313	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		34	63	0	0	0	1	0	34	63				
OR4K13	390433	broad.mit.edu	37	14	20502395	20502395	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:20502395C>A	ENST00000315693.2	-	1	524	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAAAAGCTGTCTATAACATTG	0.473																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(523-525)Gac>Tac		olfactory receptor, family 4, subfamily K, member 13							138.0	130.0	133.0					14																	20502395		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502395C>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.523G>T	14.37:g.20502395C>A	ENSP00000319322:p.Asp175Tyr						p.D175Y	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	524	-	all_cancers(95;0.00108)		175					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.523G>T	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	7.726	0.698283	0.15106	.	.	ENSG00000176253	ENST00000315693	T	0.00193	8.58	3.61	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	U	0.000924	T	0.00468	0.0015	M	0.88570	2.965	0.09310	N	1	D	0.55172	0.97	P	0.60541	0.876	T	0.34775	-0.9815	10	0.87932	D	0	.	6.024	0.19644	0.0:0.6942:0.197:0.1087	.	175	Q8NH42	OR4KD_HUMAN	Y	175	ENSP00000319322:D175Y	ENSP00000319322:D175Y	D	-	1	0	OR4K13	19572235	0.000000	0.05858	0.297000	0.24988	0.056000	0.15407	-0.938000	0.03938	0.703000	0.31848	0.514000	0.50259	GAC		0.473	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			38	58	1	0	1.30998e-17	1	1.42185e-17	38	58				
ATAD2	29028	broad.mit.edu	37	8	124382144	124382144	+	Missense_Mutation	SNP	T	T	C	rs150184958		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:124382144T>C	ENST00000287394.5	-	7	955	c.848A>G	c.(847-849)gAa>gGa	p.E283G	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	283	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tccatcttcttcatcttcatc	0.368																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(847-849)gAa>gGa		ATPase family, AAA domain containing 2		T	GLY/GLU	0,4406		0,0,2203	282.0	217.0	239.0		848	4.3	0.6	8	dbSNP_134	239	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ATAD2	NM_014109.3	98	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	benign	283/1391	124382144	3,13003	2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382144T>C	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.848A>G	8.37:g.124382144T>C	ENSP00000287394:p.Glu283Gly					ATAD2_ENST00000521903.1_5'UTR	p.E283G	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	955	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		283			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.848A>G	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	8.882	0.951985	0.18431	0.0	3.49E-4	ENSG00000156802	ENST00000287394	T	0.08984	3.03	4.27	4.27	0.50696	.	1.535050	0.03153	N	0.168234	T	0.06735	0.0172	N	0.08118	0	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.11329	0.006;0.003	T	0.17806	-1.0357	10	0.31617	T	0.26	-0.3671	11.4367	0.50072	0.0:0.0:0.0:1.0	.	113;283	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	G	283	ENSP00000287394:E283G	ENSP00000287394:E283G	E	-	2	0	ATAD2	124451325	0.844000	0.29557	0.565000	0.28409	0.218000	0.24690	1.865000	0.39479	1.886000	0.54624	0.459000	0.35465	GAA		0.368	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		26	17	0	0	0	1	0	26	17				
NYNRIN	57523	broad.mit.edu	37	14	24884026	24884026	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:24884026C>T	ENST00000382554.3	+	9	3389	c.3071C>T	c.(3070-3072)gCg>gTg	p.A1024V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1024					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCTTCGCTGGCGTCAGTGTTC	0.627																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3070-3072)gCg>gTg		NYN domain and retroviral integrase containing							99.0	130.0	119.0					14																	24884026		2195	4284	6479	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884026C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3071C>T	14.37:g.24884026C>T	ENSP00000371994:p.Ala1024Val						p.A1024V	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3389	+			1024					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3071C>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148615	0.37923	.	.	ENSG00000205978	ENST00000382554	T	0.09445	2.98	4.36	-1.35	0.09114	.	.	.	.	.	T	0.04952	0.0133	N	0.16478	0.41	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43782	-0.9370	9	0.21014	T	0.42	.	2.6926	0.05125	0.3438:0.3207:0.0:0.3355	.	1024	Q9P2P1	NYNRI_HUMAN	V	1024	ENSP00000371994:A1024V	ENSP00000371994:A1024V	A	+	2	0	NYNRIN	23953866	0.067000	0.21026	0.000000	0.03702	0.276000	0.26787	0.350000	0.20079	-0.531000	0.06340	0.313000	0.20887	GCG		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			28	30	0	0	0	1	0	28	30				
CCDC108	255101	broad.mit.edu	37	2	219883883	219883883	+	Silent	SNP	G	G	A	rs568903495		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:219883883G>A	ENST00000341552.5	-	21	3575	c.3492C>T	c.(3490-3492)ccC>ccT	p.P1164P	CCDC108_ENST00000453220.1_Silent_p.P1164P|CCDC108_ENST00000441968.1_Silent_p.P1164P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1164						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTGAGGACGGGGGGGATCT	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18392	0.0		0.0	False		,,,				2504	0.0					ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3490-3492)ccC>ccT		coiled-coil domain containing 108							46.0	53.0	51.0					2																	219883883		2203	4299	6502	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219883883G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3492C>T	2.37:g.219883883G>A						CCDC108_ENST00000453220.1_Silent_p.P1164P|CCDC108_ENST00000441968.1_Silent_p.P1164P	p.P1164P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	21	3575	-		Renal(207;0.0915)	1164					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.3492C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	0.778	-0.763265	0.02996	.	.	ENSG00000181378	ENST00000413871	.	.	.	4.68	-6.39	0.01951	.	0.797742	0.10674	N	0.647250	T	0.24236	0.0587	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.32268	-0.9913	6	0.66056	D	0.02	-1.4783	1.2545	0.01989	0.3817:0.0912:0.2494:0.2777	.	.	.	.	L	73	.	ENSP00000394019:P73L	P	-	2	0	CCDC108	219592127	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-3.019000	0.00643	-1.455000	0.01923	-0.291000	0.09656	CCG		0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		39	61	0	0	0	1	0	39	61				
FER	2241	broad.mit.edu	37	5	108203563	108203563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:108203563C>T	ENST00000281092.4	+	6	961	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	FER_ENST00000438717.2_Nonsense_Mutation_p.Q18*|FER_ENST00000536402.1_Nonsense_Mutation_p.Q193*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	193	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GAAAGGGGCACAGCTCCATCA	0.403																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(577-579)Cag>Tag		fer (fps/fes related) tyrosine kinase							164.0	130.0	141.0					5																	108203563		2202	4300	6502	SO:0001587	stop_gained	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108203563C>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.577C>T	5.37:g.108203563C>T	ENSP00000281092:p.Gln193*					FER_ENST00000438717.2_Nonsense_Mutation_p.Q18*|FER_ENST00000536402.1_Nonsense_Mutation_p.Q193*	p.Q193*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	6	961	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	193			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Nonsense_Mutation	SNP	ENST00000281092.4	37	c.577C>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	40	7.955750	0.98580	.	.	ENSG00000151422	ENST00000281092;ENST00000536402;ENST00000438717	.	.	.	5.53	5.53	0.82687	.	0.162254	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-12.8252	19.8293	0.96628	0.0:1.0:0.0:0.0	.	.	.	.	X	193;193;18	.	ENSP00000281092:Q193X	Q	+	1	0	FER	108231462	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.561000	0.67339	2.749000	0.94314	0.655000	0.94253	CAG		0.403	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		17	41	0	0	0	1	0	17	41				
PELI3	246330	broad.mit.edu	37	11	66241352	66241352	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:66241352T>C	ENST00000320740.7	+	7	956	c.796T>C	c.(796-798)Tac>Cac	p.Y266H	CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.Y242H|PELI3_ENST00000524466.1_Missense_Mutation_p.Y266H|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000602951.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	266					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGGGAATGTGTACACATTGCG	0.652																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(724-726)Tac>Cac		pellino E3 ubiquitin protein ligase family member 3							51.0	55.0	54.0					11																	66241352		2200	4295	6495	SO:0001583	missense	246330					cytosol	protein binding	g.chr11:66241352T>C	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.796T>C	11.37:g.66241352T>C	ENSP00000322532:p.Tyr266His					PELI3_ENST00000524466.1_Missense_Mutation_p.Y266H|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000320740.7_Missense_Mutation_p.Y266H	p.Y242H	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			6	1008	+			266					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	37	c.724T>C	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.534514	0.85812	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000526296;ENST00000528752	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	4.98	4.98	0.66077	.	0.071667	0.64402	D	0.000019	T	0.69717	0.3142	M	0.71581	2.175	0.43003	D	0.994524	D;D;D	0.76494	0.996;0.998;0.999	D;D;D	0.74348	0.956;0.982;0.983	T	0.74016	-0.3800	10	0.87932	D	0	-27.7046	12.9503	0.58397	0.0:0.0:0.0:1.0	.	242;266;266	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	H	242;266;266;159;53	ENSP00000309848:Y242H;ENSP00000322532:Y266H;ENSP00000434677:Y266H;ENSP00000436722:Y159H;ENSP00000436161:Y53H	ENSP00000322532:Y266H	Y	+	1	0	PELI3	65997928	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	7.825000	0.86693	2.217000	0.71921	0.533000	0.62120	TAC		0.652	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		9	110	0	0	0	1	0	9	110				
USP20	10868	broad.mit.edu	37	9	132630693	132630693	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:132630693C>A	ENST00000315480.4	+	11	1258	c.1100C>A	c.(1099-1101)cCg>cAg	p.P367Q	USP20_ENST00000358355.1_Missense_Mutation_p.P367Q|USP20_ENST00000372429.3_Missense_Mutation_p.P367Q			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	367	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCCCAGCCCCCGTCACCACGG	0.677																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1099-1101)cCg>cAg		ubiquitin specific peptidase 20							25.0	29.0	28.0					9																	132630693		2091	4167	6258	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132630693C>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1100C>A	9.37:g.132630693C>A	ENSP00000313811:p.Pro367Gln					USP20_ENST00000372429.3_Missense_Mutation_p.P367Q|USP20_ENST00000358355.1_Missense_Mutation_p.P367Q	p.P367Q			Q9Y2K6	UBP20_HUMAN			11	1258	+		Ovarian(14;0.00556)	367					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.1100C>A	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	0.645	-0.811626	0.02798	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.16324	2.35;2.35;2.35	5.25	4.36	0.52297	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.885835	0.09896	N	0.741707	T	0.12646	0.0307	N	0.12961	0.28	0.33458	D	0.584545	B	0.21606	0.058	B	0.24701	0.055	T	0.14839	-1.0458	10	0.41790	T	0.15	.	11.4706	0.50266	0.0:0.9168:0.0:0.0832	.	367	Q9Y2K6	UBP20_HUMAN	Q	367	ENSP00000361506:P367Q;ENSP00000313811:P367Q;ENSP00000351122:P367Q	ENSP00000313811:P367Q	P	+	2	0	USP20	131670514	0.154000	0.22792	0.027000	0.17364	0.006000	0.05464	1.831000	0.39141	1.222000	0.43521	-0.254000	0.11334	CCG		0.677	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			33	62	1	0	4.74835e-14	1	5.09084e-14	33	62				
OPRK1	4986	broad.mit.edu	37	8	54163550	54163550	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:54163550G>A	ENST00000265572.3	-	2	345	c.48C>T	c.(46-48)tgC>tgT	p.C16C	OPRK1_ENST00000520287.1_Silent_p.C16C	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	16					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGCTCGGGGCGCAGGTAGGGC	0.741																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(46-48)tgC>tgT		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						6.0	9.0	8.0					8																	54163550		2032	4068	6100	SO:0001819	synonymous_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54163550G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.48C>T	8.37:g.54163550G>A						OPRK1_ENST00000520287.1_Silent_p.C16C	p.C16C	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			2	345	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	16					E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.48C>T	CCDS6152.1																																																																																				0.741	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			17	33	0	0	0	1	0	17	33				
SMO	6608	broad.mit.edu	37	7	128843292	128843292	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:128843292G>T	ENST00000249373.3	+	2	679	c.399G>T	c.(397-399)aaG>aaT	p.K133N		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	133	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	ACATGCCCAAGTGTGAGAATG	0.672			Mis		skin basal cell																																	ENST00000249373.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(397-399)aaG>aaT		smoothened, frizzled family receptor							30.0	24.0	26.0					7																	128843292		2197	4295	6492	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128843292G>T	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.399G>T	7.37:g.128843292G>T	ENSP00000249373:p.Lys133Asn						p.K133N	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN			2	679	+			133			FZ.		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.399G>T	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.892031	0.72524	.	.	ENSG00000128602	ENST00000249373	T	0.76186	-1.0	5.5	2.69	0.31865	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.84534	0.5493	M	0.84585	2.705	0.58432	D	0.999995	D	0.76494	0.999	D	0.69824	0.966	D	0.85257	0.1048	10	0.62326	D	0.03	.	9.3952	0.38397	0.2272:0.0:0.7728:0.0	.	133	Q99835	SMO_HUMAN	N	133	ENSP00000249373:K133N	ENSP00000249373:K133N	K	+	3	2	SMO	128630528	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.595000	0.46197	1.322000	0.45245	0.563000	0.77884	AAG		0.672	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		3	3	1	0	0.115264	1	0.11566	3	3				
PFN2	5217	broad.mit.edu	37	3	149684300	149684300	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:149684300T>C	ENST00000239940.7	-	3	651	c.399A>G	c.(397-399)aaA>aaG	p.K133K	PFN2_ENST00000494827.1_Intron|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000497148.1_Silent_p.K84K|PFN2_ENST00000481275.1_Silent_p.K84K|PFN2_ENST00000475518.1_Silent_p.K84K|PFN2_ENST00000490975.1_Silent_p.K118K|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000498307.1_Silent_p.K84K|PFN2_ENST00000489155.1_Silent_p.K84K|PFN2_ENST00000452853.2_Intron			P35080	PROF2_HUMAN	profilin 2	133					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCTCAAGTATTTTGCCATTG	0.393																																						ENST00000239940.7																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(397-399)aaA>aaG		profilin 2							336.0	351.0	346.0					3																	149684300		2203	4300	6503	SO:0001819	synonymous_variant	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149684300T>C	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.399A>G	3.37:g.149684300T>C						PFN2_ENST00000481767.1_Intron|PFN2_ENST00000489155.1_Silent_p.K84K|PFN2_ENST00000490975.1_Silent_p.K118K|PFN2_ENST00000497148.1_Silent_p.K84K|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000475518.1_Silent_p.K84K|PFN2_ENST00000481275.1_Silent_p.K84K|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000498307.1_Silent_p.K84K	p.K133K			P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	651	-			133					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Silent	SNP	ENST00000239940.7	37	c.399A>G	CCDS3148.1																																																																																				0.393	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		269	327	0	0	0	1	0	269	327				
CHRNE	1145	broad.mit.edu	37	17	4798393	4798393	+	IGR	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4798393C>T	ENST00000293780.4	-	0	2455				MINK1_ENST00000347992.7_Missense_Mutation_p.R952W|MINK1_ENST00000355280.6_Missense_Mutation_p.R981W|MINK1_ENST00000453408.3_Missense_Mutation_p.R961W	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	AGAGGGCACTCGGCTCGACCA	0.597																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(2941-2943)Cgg>Tgg		misshapen-like kinase 1							382.0	354.0	363.0					17																	4798393		2037	4180	6217	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4798393C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4798393C>T						MINK1_ENST00000453408.3_Missense_Mutation_p.R961W|MINK1_ENST00000347992.7_Missense_Mutation_p.R952W	p.R981W	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			25	3137	+			981			Mediates interaction with RAP2A.		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.2941C>T	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334658	0.81801	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.76839	-1.04;-1.03;-1.05	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	M	0.80982	2.52	0.58432	D	0.999995	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.76575	0.952;0.988;0.973;0.988	D	0.89539	0.3791	10	0.87932	D	0	.	16.0869	0.81060	0.0:1.0:0.0:0.0	.	944;961;981;952	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	W	981;961;952	ENSP00000347427:R981W;ENSP00000406487:R961W;ENSP00000269296:R952W	ENSP00000269296:R952W	R	+	1	2	MINK1	4739169	0.996000	0.38824	0.938000	0.37757	0.969000	0.65631	4.058000	0.57463	2.655000	0.90218	0.655000	0.94253	CGG		0.597	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			21	36	0	0	0	1	0	21	36				
SUPT6H	6830	broad.mit.edu	37	17	27031790	27031790	+	IGR	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:27031790C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Missense_Mutation_p.A55T|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.A57T|PROCA1_ENST00000581289.1_Intron	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAGTCAGAGGCGAAAGGGTAG	0.592																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(163-165)Gcc>Acc		protein interacting with cyclin A1							130.0	105.0	114.0					17																	27031790		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27031790C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27031790C>T						PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.A57T	p.A55T	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN			2	356	-	Lung NSC(42;0.00431)		83					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.163G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	2.382	-0.341870	0.05243	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	T;T;T	0.29655	1.56;1.56;3.58	3.86	-4.24	0.03777	.	0.529018	0.20002	N	0.101305	T	0.11965	0.0291	N	0.17474	0.49	0.09310	N	0.999991	B;B	0.19706	0.038;0.038	B;B	0.06405	0.002;0.002	T	0.27739	-1.0065	10	0.14656	T	0.56	.	6.3287	0.21259	0.16:0.5506:0.0:0.2893	.	57;55	G5E9R8;Q8NCQ7-2	.;.	T	55;57;83;57	ENSP00000301039:A55T;ENSP00000411400:A57T;ENSP00000468747:A83T	ENSP00000301039:A55T	A	-	1	0	PROCA1	24055917	0.002000	0.14202	0.025000	0.17156	0.659000	0.38960	-1.994000	0.01474	-0.751000	0.04734	-0.302000	0.09304	GCC		0.592	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		31	44	0	0	0	1	0	31	44				
SI	6476	broad.mit.edu	37	3	164712126	164712126	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:164712126T>C	ENST00000264382.3	-	41	4822	c.4760A>G	c.(4759-4761)tAc>tGc	p.Y1587C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1587	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CAATAAGGTGTATCTAATATT	0.348										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4759-4761)tAc>tGc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						118.0	119.0	119.0					3																	164712126		2203	4299	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164712126T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4760A>G	3.37:g.164712126T>C	ENSP00000264382:p.Tyr1587Cys	HNSCC(35;0.089)					p.Y1587C	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			41	4822	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1587			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4760A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438268	0.62955	.	.	ENSG00000090402	ENST00000264382	D	0.93763	-3.28	5.2	5.2	0.72013	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	H	0.98559	4.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99525	1.0959	10	0.87932	D	0	.	15.2342	0.73416	0.0:0.0:0.0:1.0	.	1587	P14410	SUIS_HUMAN	C	1587	ENSP00000264382:Y1587C	ENSP00000264382:Y1587C	Y	-	2	0	SI	166194820	1.000000	0.71417	0.980000	0.43619	0.457000	0.32468	7.598000	0.82745	2.319000	0.78375	0.524000	0.50904	TAC		0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		30	27	0	0	0	1	0	30	27				
GPR123	84435	broad.mit.edu	37	10	134941910	134941910	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:134941910A>G	ENST00000392607.3	+	7	1014	c.578A>G	c.(577-579)tAc>tGc	p.Y193C	GPR123_ENST00000392606.2_Missense_Mutation_p.Y96C|GPR123_ENST00000607359.1_Missense_Mutation_p.Y912C	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	193					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACCTGTGTGTACTTCCTGGGC	0.701																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2734-2736)tAc>tGc		G protein-coupled receptor 123							16.0	16.0	16.0					10																	134941910		2183	4266	6449	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134941910A>G	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.578A>G	10.37:g.134941910A>G	ENSP00000376384:p.Tyr193Cys					GPR123_ENST00000392606.2_Missense_Mutation_p.Y96C|GPR123_ENST00000392607.3_Missense_Mutation_p.Y193C	p.Y912C			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	2735	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	193					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.2735A>G	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	16.75	3.209780	0.58343	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.43294	0.95	4.75	4.75	0.60458	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000048	T	0.66733	0.2819	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	T	0.72849	-0.4168	10	0.87932	D	0	-49.2731	12.4906	0.55897	1.0:0.0:0.0:0.0	.	193;912	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	C	912;193;97	ENSP00000376384:Y193C	ENSP00000357566:Y912C	Y	+	2	0	GPR123	134791900	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.808000	0.75206	1.910000	0.55303	0.402000	0.26972	TAC		0.701	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			20	22	0	0	0	1	0	20	22				
SEMA6A	57556	broad.mit.edu	37	5	115783143	115783143	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:115783143C>T	ENST00000343348.6	-	19	3046	c.2259G>A	c.(2257-2259)acG>acA	p.T753T	CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.T230T|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503865.1_Silent_p.T132T|SEMA6A_ENST00000257414.8_Silent_p.T770T|SEMA6A_ENST00000513137.1_Silent_p.T180T|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.T753T	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	753					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGGGGAGGGCCGTCAGGTCCA	0.632																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2257-2259)acG>acA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							108.0	121.0	117.0					5																	115783143		2180	4266	6446	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783143C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2259G>A	5.37:g.115783143C>T						SEMA6A_ENST00000513137.1_Silent_p.T180T|SEMA6A_ENST00000282394.6_Silent_p.T230T|SEMA6A_ENST00000510263.1_Silent_p.T753T|SEMA6A_ENST00000503865.1_Silent_p.T132T|SEMA6A_ENST00000257414.8_Silent_p.T770T	p.T753T	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3046	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	753					Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.2259G>A	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	1.903	-0.452601	0.04540	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.2	-8.36	0.00980	.	.	.	.	.	T	0.45538	0.1347	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50533	-0.8817	4	.	.	.	.	6.4066	0.21668	0.0867:0.236:0.4581:0.2192	.	.	.	.	Q	268	.	.	R	-	2	0	SEMA6A	115811042	0.001000	0.12720	0.264000	0.24511	0.777000	0.43975	-1.591000	0.02100	-1.818000	0.01218	-0.810000	0.03169	CGG		0.632	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		172	144	0	0	0	1	0	172	144				
GNL1	2794	broad.mit.edu	37	6	30521243	30521243	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:30521243G>A	ENST00000376621.3	-	6	1662	c.692C>T	c.(691-693)cCg>cTg	p.P231L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	231	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AAGAGCTGGCGGGGCCAGATC	0.542																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(691-693)cCg>cTg		guanine nucleotide binding protein-like 1							128.0	134.0	132.0					6																	30521243		1510	2709	4219	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30521243G>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.692C>T	6.37:g.30521243G>A	ENSP00000365806:p.Pro231Leu						p.P231L	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			6	1662	-			231					B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.692C>T	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856227	0.91355	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126;ENST00000433809	T;T	0.15256	2.44;2.44	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	0.999;0.989;1.0	P;P;D	0.81914	0.899;0.709;0.995	T	0.52771	-0.8531	10	0.72032	D	0.01	-42.4185	17.481	0.87673	0.0:0.0:1.0:0.0	.	229;93;231	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	L	231;53;93;229	ENSP00000365806:P231L;ENSP00000404728:P229L	ENSP00000365806:P231L	P	-	2	0	GNL1	30629222	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	8.495000	0.90481	2.434000	0.82447	0.655000	0.94253	CCG		0.542	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			104	73	0	0	0	1	0	104	73				
PTPRK	5796	broad.mit.edu	37	6	128410948	128410948	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:128410948T>C	ENST00000368215.3	-	8	1351	c.1352A>G	c.(1351-1353)cAg>cGg	p.Q451R	PTPRK_ENST00000368210.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.Q451R|PTPRK_ENST00000368227.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000532331.1_Missense_Mutation_p.Q451R|PTPRK_ENST00000368207.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000368213.5_Missense_Mutation_p.Q451R			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	451	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACAACATGCTGAGGGGCTTT	0.468																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1351-1353)cAg>cGg		protein tyrosine phosphatase, receptor type, K							193.0	163.0	173.0					6																	128410948		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128410948T>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1352A>G	6.37:g.128410948T>C	ENSP00000357198:p.Gln451Arg					PTPRK_ENST00000368215.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000368207.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000368213.5_Missense_Mutation_p.Q451R|PTPRK_ENST00000532331.1_Missense_Mutation_p.Q451R|PTPRK_ENST00000368226.4_Missense_Mutation_p.Q451R	p.Q451R			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	8	1718	-			451			Fibronectin type-III 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.1352A>G		.	.	.	.	.	.	.	.	.	.	T	6.612	0.481382	0.12581	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.73	5.73	0.89815	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.125563	0.56097	D	0.000026	T	0.08582	0.0213	N	0.01771	-0.73	0.46396	D	0.999028	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.24368	-1.0162	10	0.05351	T	0.99	.	16.011	0.80404	0.0:0.0:0.0:1.0	.	451;451;451;308;451;451	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	R	451;451;451;451;451;451;451;308	ENSP00000357209:Q451R;ENSP00000357210:Q451R;ENSP00000432973:Q451R;ENSP00000357196:Q451R;ENSP00000357193:Q451R;ENSP00000357198:Q451R;ENSP00000357190:Q451R	ENSP00000357190:Q451R	Q	-	2	0	PTPRK	128452641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.087000	0.71362	2.185000	0.69588	0.477000	0.44152	CAG		0.468	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			91	48	0	0	0	1	0	91	48				
MYH7	4625	broad.mit.edu	37	14	23887559	23887559	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:23887559C>T	ENST00000355349.3	-	30	4191	c.4029G>A	c.(4027-4029)ctG>ctA	p.L1343L	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1343					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTGCTCCCGCAGCAGGTCGC	0.657																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4027-4029)ctG>ctA		myosin, heavy chain 7, cardiac muscle, beta							48.0	45.0	46.0					14																	23887559		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887559C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4029G>A	14.37:g.23887559C>T							p.L1343L	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4191	-	all_cancers(95;2.54e-05)		1343					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4029G>A	CCDS9601.1																																																																																				0.657	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		40	60	0	0	0	1	0	40	60				
ZFHX3	463	broad.mit.edu	37	16	72822572	72822572	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:72822572C>T	ENST00000268489.5	-	10	10275	c.9603G>A	c.(9601-9603)caG>caA	p.Q3201Q	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.Q2287Q|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3201	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gttgctgctgctgctgctgct	0.652																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9601-9603)caG>caA		zinc finger homeobox 3							59.0	68.0	65.0					16																	72822572		2197	4298	6495	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822572C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9603G>A	16.37:g.72822572C>T						ZFHX3_ENST00000397992.5_Silent_p.Q2287Q	p.Q3201Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10275	-		Ovarian(137;0.13)	3201			Poly-Gln.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.9603G>A	CCDS10908.1																																																																																				0.652	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		89	117	0	0	0	1	0	89	117				
ATP8A2	51761	broad.mit.edu	37	13	26116151	26116151	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:26116151A>G	ENST00000381655.2	+	9	888	c.746A>G	c.(745-747)gAc>gGc	p.D249G	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D209G	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	209					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CACCTCTATGACTTCACTGGA	0.393																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(745-747)gAc>gGc		ATPase, aminophospholipid transporter, class I, type 8A, member 2							97.0	93.0	94.0					13																	26116151		1862	4102	5964	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26116151A>G	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.746A>G	13.37:g.26116151A>G	ENSP00000371070:p.Asp249Gly					ATP8A2_ENST00000255283.8_Missense_Mutation_p.D209G	p.D249G	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	9	888	+		Breast(139;0.0201)|Lung SC(185;0.0225)	209					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.746A>G	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797242	0.70567	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.74737	-0.87;-0.87	5.51	5.51	0.81932	ATPase, P-type, ATPase-associated domain (1);	0.088702	0.85682	D	0.000000	T	0.67534	0.2903	L	0.29908	0.895	0.80722	D	1	P;P;P	0.45902	0.741;0.868;0.741	B;B;B	0.43052	0.403;0.406;0.403	T	0.71090	-0.4693	10	0.51188	T	0.08	.	15.9068	0.79436	1.0:0.0:0.0:0.0	.	209;209;209	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	G	249;209;29	ENSP00000371070:D249G;ENSP00000255283:D209G	ENSP00000255283:D209G	D	+	2	0	ATP8A2	25014151	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.339000	0.96797	2.218000	0.71995	0.523000	0.50628	GAC		0.393	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		28	33	0	0	0	1	0	28	33				
FKRP	79147	broad.mit.edu	37	19	47260141	47260141	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47260141C>T	ENST00000318584.5	+	4	1731	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Silent_p.I478I	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	478					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CCGGGGTCATCGAGAACCCCC	0.637																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1432-1434)atC>atT		fukutin related protein							14.0	15.0	14.0					19																	47260141		2195	4287	6482	SO:0001819	synonymous_variant	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47260141C>T	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.1434C>T	19.37:g.47260141C>T						FKRP_ENST00000391909.3_Silent_p.I478I|FKRP_ENST00000600646.1_Intron	p.I478I	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	1731	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	478					A8K5G7	Silent	SNP	ENST00000318584.5	37	c.1434C>T	CCDS12691.1																																																																																				0.637	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		9	11	0	0	0	1	0	9	11				
NUDT14	256281	broad.mit.edu	37	14	105643364	105643364	+	Splice_Site	SNP	G	G	A	rs370941955		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:105643364G>A	ENST00000392568.2	-	3	219	c.126C>T	c.(124-126)agC>agT	p.S42S	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	42	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GAACGGTCACGCTGTGTACGG	0.632										HNSCC(42;0.11)																												ENST00000392568.2																			0				cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.e3-1		nudix (nucleoside diphosphate linked moiety X)-type motif 14		G		1,4387		0,1,2193	39.0	33.0	35.0		126	-2.0	1.0	14		35	0,8582		0,0,4291	no	coding-synonymous-near-splice	NUDT14	NM_177533.3		0,1,6484	AA,AG,GG		0.0,0.0228,0.0077		42/223	105643364	1,12969	2194	4291	6485	SO:0001630	splice_region_variant	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105643364G>A	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.126-1C>T	14.37:g.105643364G>A		HNSCC(42;0.11)				RP11-44N21.4_ENST00000548203.1_RNA	p.S42_splice	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	3	219	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	42			Nudix hydrolase.		Q86SJ8	Splice_Site	SNP	ENST00000392568.2	37	c.125_splice	CCDS10000.1																																																																																				0.632	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533	Silent	16	18	0	0	0	1	0	16	18				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	38	0	0	0	1	0	6	38				
ZFYVE26	23503	broad.mit.edu	37	14	68215288	68215288	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:68215288T>C	ENST00000347230.4	-	42	7623	c.7485A>G	c.(7483-7485)tcA>tcG	p.S2495S	RN7SL213P_ENST00000463482.2_RNA	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2495					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGTGGCCCGTGAGTGTTCTT	0.562																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(7483-7485)tcA>tcG		zinc finger, FYVE domain containing 26							75.0	64.0	68.0					14																	68215288		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68215288T>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7485A>G	14.37:g.68215288T>C							p.S2495S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	42	7623	-			2495					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.7485A>G	CCDS9788.1																																																																																				0.562	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		36	54	0	0	0	1	0	36	54				
CFAP43	80217	broad.mit.edu	37	10	105965735	105965735	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:105965735G>T	ENST00000278064.2	-	7	1067	c.742C>A	c.(742-744)Ctg>Atg	p.L248M	WDR96_ENST00000369720.1_Missense_Mutation_p.L248M|WDR96_ENST00000357060.3_Missense_Mutation_p.L317M|WDR96_ENST00000369719.1_Missense_Mutation_p.L248M|WDR96_ENST00000428666.1_Missense_Mutation_p.L318M																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCAGAAGCCAGCACGCCCTCC	0.328																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(949-951)Ctg>Atg		WD repeat domain 96							60.0	57.0	58.0					10																	105965735		2203	4298	6501	SO:0001583	missense	80217							g.chr10:105965735G>T																												ENST00000278064.2:c.742C>A	10.37:g.105965735G>T	ENSP00000278064:p.Leu248Met					WDR96_ENST00000369719.1_Missense_Mutation_p.L248M|WDR96_ENST00000369720.1_Missense_Mutation_p.L248M|WDR96_ENST00000278064.2_Missense_Mutation_p.L248M|WDR96_ENST00000428666.1_Missense_Mutation_p.L318M	p.L317M	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			7	1064	-			317						Missense_Mutation	SNP	ENST00000278064.2	37	c.949C>A		.	.	.	.	.	.	.	.	.	.	G	12.48	1.950923	0.34471	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.73047	2.33;2.37;2.32;1.36;-0.71	4.43	-1.17	0.09648	WD40 repeat-like-containing domain (1);	0.835214	0.10056	N	0.721557	T	0.66228	0.2768	L	0.53249	1.67	0.09310	N	1	P;D;P	0.53151	0.951;0.958;0.94	P;P;P	0.51516	0.672;0.487;0.592	T	0.56420	-0.7982	10	0.52906	T	0.07	.	0.7045	0.00913	0.3159:0.1639:0.3523:0.1678	.	317;318;317	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	M	317;318;248;248;248	ENSP00000349568:L317M;ENSP00000400289:L318M;ENSP00000278064:L248M;ENSP00000358734:L248M;ENSP00000358733:L248M	ENSP00000278064:L248M	L	-	1	2	WDR96	105955725	0.001000	0.12720	0.058000	0.19502	0.790000	0.44656	-0.672000	0.05244	-0.186000	0.10533	-0.355000	0.07637	CTG		0.328	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			27	10	1	0	2.80507e-11	1	2.98188e-11	27	10				
GRB7	2886	broad.mit.edu	37	17	37899524	37899524	+	Silent	SNP	C	C	T	rs145171655		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:37899524C>T	ENST00000309156.4	+	5	812	c.555C>T	c.(553-555)ttC>ttT	p.F185F	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000309185.3_Silent_p.F185F|GRB7_ENST00000445327.2_Silent_p.F208F|GRB7_ENST00000394211.3_Silent_p.F185F|GRB7_ENST00000394204.1_Silent_p.F185F|GRB7_ENST00000394209.2_Silent_p.F185F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	185	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGAAAAACTTCGCCAAGTACG	0.617																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(553-555)ttC>ttT		growth factor receptor-bound protein 7		C	,,,	0,4406		0,0,2203	88.0	85.0	86.0		555,624,555,555	0.3	1.0	17	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	185/533,208/556,185/533,185/533	37899524	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37899524C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.555C>T	17.37:g.37899524C>T						GRB7_ENST00000445327.2_Silent_p.F208F|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394209.2_Silent_p.F185F|GRB7_ENST00000394211.3_Silent_p.F185F|GRB7_ENST00000309185.3_Silent_p.F185F|GRB7_ENST00000394204.1_Silent_p.F185F	p.F185F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	812	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		185			Ras-associating.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Silent	SNP	ENST00000309156.4	37	c.555C>T	CCDS11345.1																																																																																				0.617	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		50	51	0	0	0	1	0	50	51				
LOC401127	401127	broad.mit.edu	37	4	39482626	39482626	+	RNA	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:39482626G>A	ENST00000513652.1	+	0	633																											CATTTTAATCGTGATGGATTC	0.468																																						ENST00000513652.1																			0																																																			0							g.chr4:39482626G>A																													4.37:g.39482626G>A														0	633	+									RNA	SNP	ENST00000513652.1	37																																																																																						0.468	RP11-472B18.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361032.1			26	22	0	0	0	1	0	26	22				
TTN	7273	broad.mit.edu	37	2	179575969	179575969	+	Missense_Mutation	SNP	C	C	T	rs367734747		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:179575969C>T	ENST00000591111.1	-	95	27267	c.27043G>A	c.(27043-27045)Gtg>Atg	p.V9015M	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V8088M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V9332M|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13153	Ig-like 73.				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)			TACCAAGACACGGAGATAGGT	0.393																																						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.(27994-27996)Gtg>Atg		titin		C	MET/VAL,,,	0,3722		0,0,1861	184.0	180.0	181.0		24262,,,	4.9	0.9	2		181	1,8229		0,1,4114	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	21,,,	0,1,5975	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,,,	8088/33424,,,	179575969	1,11951	1861	4115	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575969C>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.27043G>A	2.37:g.179575969C>T	ENSP00000465570:p.Val9015Met					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V8088M|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V9015M|TTN-AS1_ENST00000592630.1_RNA	p.V9332M	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)		97	28218	-			9015			Ig-like 76.		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.27994G>A		.	.	.	.	.	.	.	.	.	.	C	13.65	2.299506	0.40694	0.0	1.22E-4	ENSG00000155657	ENST00000342992	T	0.76968	-1.06	5.76	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90776	0.7104	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.93261	0.6643	9	0.87932	D	0	.	15.4076	0.74890	0.0:0.9331:0.0:0.0669	.	9015	Q8WZ42	TITIN_HUMAN	M	8088	ENSP00000343764:V8088M	ENSP00000343764:V8088M	V	-	1	0	TTN	179284214	0.991000	0.36638	0.914000	0.36105	0.948000	0.59901	2.913000	0.48790	1.589000	0.49982	-0.126000	0.14955	GTG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	124	0	0	0	1	0	63	124				
MAP3K5	4217	broad.mit.edu	37	6	136990430	136990430	+	Missense_Mutation	SNP	G	G	C	rs376994168		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:136990430G>C	ENST00000359015.4	-	8	1717	c.1357C>G	c.(1357-1359)Cgg>Ggg	p.R453G		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	453					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCAACTTTCCGGAGCTCAAAG	0.393																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(1357-1359)Cgg>Ggg		mitogen-activated protein kinase kinase kinase 5							122.0	129.0	127.0					6																	136990430		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136990430G>C	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1357C>G	6.37:g.136990430G>C	ENSP00000351908:p.Arg453Gly						p.R453G	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	8	1717	-	Colorectal(23;0.24)		453					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.1357C>G	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593658	0.86953	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.11604	2.76	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.03157	-1.1066	10	0.87932	D	0	.	19.3781	0.94519	0.0:0.0:1.0:0.0	.	533;298;453	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	G	453;533	ENSP00000351908:R453G	ENSP00000351908:R453G	R	-	1	2	MAP3K5	137032123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.580000	0.87095	0.650000	0.86243	CGG		0.393	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			41	105	0	0	0	1	0	41	105				
MSL3P1	151507	broad.mit.edu	37	2	234775123	234775123	+	RNA	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:234775123C>T	ENST00000438684.1	-	0	991					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CCCTTCCTGGCTAGGAGTCAG	0.502																																						ENST00000438684.1																			0																				127.0	104.0	111.0					2																	234775123		692	1591	2283			0							g.chr2:234775123C>T	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775123C>T								NR_024322.1						0	991	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.502	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		25	57	0	0	0	1	0	25	57				
MRI1	84245	broad.mit.edu	37	19	13879657	13879657	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:13879657C>T	ENST00000040663.6	+	5	784	c.744C>T	c.(742-744)gaC>gaT	p.D248D	MRI1_ENST00000319545.8_Silent_p.D201D	NM_001031727.2	NP_001026897.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGGGAGCTGACCGCGTGGTTG	0.647																																						ENST00000319545.8																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(601-603)gaC>gaT		methylthioribose-1-phosphate isomerase 1							57.0	47.0	51.0					19																	13879657		2203	4300	6503	SO:0001819	synonymous_variant	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13879657C>T		CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"""mediator of RhoA-dependent invasion"", ""S-methyl-5-thioribose-1-phosphate isomerase 1"""	615105	"""methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"""			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000040663.6:c.744C>T	19.37:g.13879657C>T						MRI1_ENST00000040663.6_Silent_p.D248D	p.D201D	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN			5	660	+			248						Silent	SNP	ENST00000040663.6	37	c.603C>T	CCDS32923.1																																																																																				0.647	MRI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453424.1	NM_032285		10	29	0	0	0	1	0	10	29				
LMCD1	29995	broad.mit.edu	37	3	8579029	8579029	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:8579029A>G	ENST00000157600.3	+	3	522	c.290A>G	c.(289-291)aAc>aGc	p.N97S	LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_Missense_Mutation_p.N24S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.N97S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	97					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TACAAGAGGAACCGGATGATC	0.537																																						ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(289-291)aAc>aGc		LIM and cysteine-rich domains 1							142.0	147.0	146.0					3																	8579029		2203	4300	6503	SO:0001583	missense	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8579029A>G	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.290A>G	3.37:g.8579029A>G	ENSP00000157600:p.Asn97Ser					LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000535732.1_Missense_Mutation_p.N97S|LMCD1_ENST00000454244.1_Missense_Mutation_p.N24S|LMCD1-AS1_ENST00000439407.1_RNA	p.N97S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	3	522	+			97					B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	c.290A>G	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443231	0.83993	.	.	ENSG00000071282	ENST00000157600;ENST00000415597;ENST00000535732;ENST00000454244;ENST00000426878	T;D;T;T;T	0.86497	0.82;-2.13;-1.15;0.73;-1.15	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.78637	2.42	0.80722	D	1	D;P	0.61697	0.99;0.952	P;P	0.57371	0.819;0.452	D	0.91406	0.5147	10	0.41790	T	0.15	-41.0706	14.8947	0.70636	1.0:0.0:0.0:0.0	.	97;97	F5GX84;Q9NZU5	.;LMCD1_HUMAN	S	97;103;97;24;54	ENSP00000157600:N97S;ENSP00000400555:N103S;ENSP00000441100:N97S;ENSP00000396515:N24S;ENSP00000411222:N54S	ENSP00000157600:N97S	N	+	2	0	LMCD1	8554029	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.819000	0.91997	2.194000	0.70268	0.533000	0.62120	AAC		0.537	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		110	128	0	0	0	1	0	110	128				
TSPAN9	10867	broad.mit.edu	37	12	3392257	3392257	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:3392257G>A	ENST00000011898.5	+	9	856	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	TSPAN9_ENST00000537971.1_Missense_Mutation_p.R232Q	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	232						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CACATCCACCGGACTGGTAAG	0.637																																						ENST00000011898.5																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(694-696)cGg>cAg		tetraspanin 9							82.0	68.0	72.0					12																	3392257		2203	4300	6503	SO:0001583	missense	10867					integral to plasma membrane|membrane fraction		g.chr12:3392257G>A	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.695G>A	12.37:g.3392257G>A	ENSP00000011898:p.Arg232Gln					TSPAN9_ENST00000537971.1_Missense_Mutation_p.R232Q	p.R232Q	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		9	856	+			232					D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	37	c.695G>A	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033320	0.93575	.	.	ENSG00000011105	ENST00000537971;ENST00000011898	T;T	0.41065	1.01;1.01	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	M	0.63169	1.94	0.80722	D	1	P	0.35844	0.524	B	0.37387	0.248	T	0.46693	-0.9173	10	0.49607	T	0.09	.	16.3568	0.83237	0.0:0.0:1.0:0.0	.	232	O75954	TSN9_HUMAN	Q	232	ENSP00000444799:R232Q;ENSP00000011898:R232Q	ENSP00000011898:R232Q	R	+	2	0	TSPAN9	3262518	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.739000	0.84976	2.443000	0.82685	0.644000	0.83932	CGG		0.637	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		4	106	0	0	0	1	0	4	106				
COLGALT1	79709	broad.mit.edu	37	19	17691986	17691986	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17691986G>A	ENST00000252599.4	+	12	1722	c.1602G>A	c.(1600-1602)gtG>gtA	p.V534V		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	534					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CTCCCCCCAGGTCCGAGTACA	0.592																																						ENST00000252599.4																			0											c.e12-1		collagen beta(1-O)galactosyltransferase 1							212.0	214.0	213.0					19																	17691986		2203	4300	6503	SO:0001630	splice_region_variant	79709							g.chr19:17691986G>A	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1602-1G>A	19.37:g.17691986G>A							p.V534_splice	NM_024656.2	NP_078932.2					12	1722	+								Q8NC64	Splice_Site	SNP	ENST00000252599.4	37	c.1601_splice	CCDS12363.1																																																																																				0.592	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656	Silent	172	270	0	0	0	1	0	172	270				
OLFM1	10439	broad.mit.edu	37	9	138011985	138011985	+	Silent	SNP	C	C	T	rs370742908		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:138011985C>T	ENST00000371793.3	+	6	1670	c.1419C>T	c.(1417-1419)aaC>aaT	p.N473N	OLFM1_ENST00000252854.4_Silent_p.N455N|OLFM1_ENST00000371796.3_Silent_p.N446N	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	473	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TCCTCTACAACGTGACCCTCT	0.572																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(1363-1365)aaC>aaT		olfactomedin 1		C		0,4406		0,0,2203	112.0	97.0	102.0		1365	0.3	1.0	9		102	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OLFM1	NM_014279.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		455/468	138011985	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:138011985C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1419C>T	9.37:g.138011985C>T						OLFM1_ENST00000371793.3_Silent_p.N473N|OLFM1_ENST00000371796.3_Silent_p.N446N	p.N455N	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	6	1552	+		Myeloproliferative disorder(178;0.0333)	473			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371793.3	37	c.1365C>T																																																																																					0.572	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		23	43	0	0	0	1	0	23	43				
MCM2	4171	broad.mit.edu	37	3	127335929	127335929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:127335929C>T	ENST00000265056.7	+	10	1985	c.1741C>T	c.(1741-1743)Cga>Tga	p.R581*		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	581	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						TCTGGCTGACCGAGGAGTGTG	0.647																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1741-1743)Cga>Tga		minichromosome maintenance complex component 2							80.0	87.0	84.0					3																	127335929		2203	4300	6503	SO:0001587	stop_gained	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127335929C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1741C>T	3.37:g.127335929C>T	ENSP00000265056:p.Arg581*						p.R581*	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			10	1985	+			581			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Nonsense_Mutation	SNP	ENST00000265056.7	37	c.1741C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	42	9.258494	0.99117	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	.	.	.	5.91	5.01	0.66863	.	0.165521	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-8.495	13.1717	0.59602	0.4364:0.5636:0.0:0.0	.	.	.	.	X	581;485;631	.	ENSP00000265056:R581X	R	+	1	2	MCM2	128818619	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.921000	0.40035	1.456000	0.47831	0.655000	0.94253	CGA		0.647	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			82	98	0	0	0	1	0	82	98				
TTC22	55001	broad.mit.edu	37	1	55266305	55266305	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:55266305C>T	ENST00000371276.4	-	1	635	c.532G>A	c.(532-534)Gcg>Acg	p.A178T	TTC22_ENST00000371274.4_Missense_Mutation_p.A178T	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	178										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCGTAGAGCGCGATGCCTGCC	0.701																																						ENST00000371276.4																			0				kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(532-534)Gcg>Acg		tetratricopeptide repeat domain 22							7.0	8.0	8.0					1																	55266305		2167	4273	6440	SO:0001583	missense	55001						binding	g.chr1:55266305C>T	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.532G>A	1.37:g.55266305C>T	ENSP00000360323:p.Ala178Thr					TTC22_ENST00000371274.4_Missense_Mutation_p.A178T	p.A178T	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN			1	635	-			178					Q9NWT4	Missense_Mutation	SNP	ENST00000371276.4	37	c.532G>A	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312967	0.40895	.	.	ENSG00000006555	ENST00000371276;ENST00000371274	T;T	0.44482	0.92;2.11	4.31	2.41	0.29592	.	0.377447	0.26062	N	0.026566	T	0.32585	0.0834	L	0.54323	1.7	0.22762	N	0.998764	B;B	0.12013	0.002;0.005	B;B	0.08055	0.001;0.003	T	0.20405	-1.0276	10	0.38643	T	0.18	-28.9187	5.4295	0.16446	0.164:0.6574:0.0:0.1786	.	178;178	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	T	178	ENSP00000360323:A178T;ENSP00000360321:A178T	ENSP00000360321:A178T	A	-	1	0	TTC22	55038893	0.437000	0.25593	0.977000	0.42913	0.928000	0.56348	0.567000	0.23608	0.541000	0.28827	0.462000	0.41574	GCG		0.701	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		9	7	0	0	0	1	0	9	7				
PKD1	5310	broad.mit.edu	37	16	2160364	2160364	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2160364G>A	ENST00000262304.4	-	15	5012	c.4804C>T	c.(4804-4806)Cgc>Tgc	p.R1602C	PKD1_ENST00000423118.1_Missense_Mutation_p.R1602C|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1602	PKD 11. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCACGGAGCGGAAGGTGTAA	0.612																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4804-4806)Cgc>Tgc		polycystic kidney disease 1 (autosomal dominant)							54.0	55.0	55.0					16																	2160364		2196	4298	6494	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160364G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4804C>T	16.37:g.2160364G>A	ENSP00000262304:p.Arg1602Cys					PKD1_ENST00000423118.1_Missense_Mutation_p.R1602C	p.R1602C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	5012	-			1602			PKD 11.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4804C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.426502	0.83667	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.61510	0.1;0.1	5.12	5.12	0.69794	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.059097	0.64402	D	0.000002	T	0.68449	0.3002	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71477	-0.4581	10	0.62326	D	0.03	.	18.5786	0.91163	0.0:0.0:1.0:0.0	.	1602;1602	P98161-3;P98161	.;PKD1_HUMAN	C	1602	ENSP00000262304:R1602C;ENSP00000399501:R1602C	ENSP00000262304:R1602C	R	-	1	0	PKD1	2100365	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.352000	0.79404	2.403000	0.81681	0.550000	0.68814	CGC		0.612	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			43	54	0	0	0	1	0	43	54				
XRCC1	7515	broad.mit.edu	37	19	44057626	44057626	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:44057626C>A	ENST00000262887.5	-	6	1075	c.528G>T	c.(526-528)aaG>aaT	p.K176N	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.K145N			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	176					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CATCCTCCTCCTTCACACGGA	0.597								Other BER factors																														ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(526-528)aaG>aaT	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							95.0	87.0	90.0					19																	44057626		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44057626C>A	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.528G>T	19.37:g.44057626C>A	ENSP00000262887:p.Lys176Asn					XRCC1_ENST00000543982.1_Missense_Mutation_p.K145N|L34079.3_ENST00000597119.1_RNA	p.K176N			P18887	XRCC1_HUMAN			6	1075	-		Prostate(69;0.0153)	176					Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.528G>T	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676244	0.67928	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.03272	4.0;3.99	4.73	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.12817	0.0311	M	0.72894	2.215	0.58432	D	0.99999	D;P	0.76494	0.999;0.925	D;B	0.78314	0.991;0.446	T	0.02450	-1.1157	10	0.32370	T	0.25	-26.7247	8.7709	0.34731	0.0:0.8044:0.0:0.1956	.	145;176	F5H8D7;P18887	.;XRCC1_HUMAN	N	190;176;145;176	ENSP00000262887:K176N;ENSP00000443671:K145N	ENSP00000262887:K176N	K	-	3	2	XRCC1	48749466	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.988000	0.29616	0.664000	0.31047	0.655000	0.94253	AAG		0.597	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		42	55	1	0	3.54561e-26	1	3.96114e-26	42	55				
MMRN1	22915	broad.mit.edu	37	4	90816607	90816607	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:90816607C>G	ENST00000394980.1	+	2	804	c.485C>G	c.(484-486)aCt>aGt	p.T162S	MMRN1_ENST00000394981.1_Missense_Mutation_p.T128S|MMRN1_ENST00000264790.2_Missense_Mutation_p.T162S			Q13201	MMRN1_HUMAN	multimerin 1	162					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTtggaggcactggaggcatt	0.507																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(484-486)aCt>aGt		multimerin 1							61.0	62.0	61.0					4																	90816607		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816607C>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.485C>G	4.37:g.90816607C>G	ENSP00000378431:p.Thr162Ser					MMRN1_ENST00000394981.1_Missense_Mutation_p.T128S|MMRN1_ENST00000264790.2_Missense_Mutation_p.T162S	p.T162S			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	804	+		Hepatocellular(203;0.114)	162					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.485C>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.010527	0.00043	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.70631	0.21;0.21;-0.5	0.427	-0.854	0.10705	.	.	.	.	.	T	0.37919	0.1021	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.17228	-1.0376	8	0.08179	T	0.78	.	.	.	.	.	128;162	Q13201-2;Q13201	.;MMRN1_HUMAN	S	162;162;128	ENSP00000378431:T162S;ENSP00000264790:T162S;ENSP00000378432:T128S	ENSP00000264790:T162S	T	+	2	0	MMRN1	91035630	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.303000	0.08210	-1.861000	0.01153	-1.921000	0.00515	ACT		0.507	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		35	39	0	0	0	1	0	35	39				
MATN4	8785	broad.mit.edu	37	20	43933378	43933378	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:43933378C>T	ENST00000372754.1	-	2	141	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	MATN4_ENST00000353917.5_Missense_Mutation_p.V45M|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000360607.6_Missense_Mutation_p.V45M|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.V45M|MATN4_ENST00000342716.4_Missense_Mutation_p.V45M|RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.V45M			O95460	MATN4_HUMAN	matrilin 4	45	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AAAGGGCGCACGCTGCGGGAG	0.632																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(133-135)Gtg>Atg		matrilin 4							29.0	26.0	27.0					20																	43933378		2203	4296	6499	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933378C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.133G>A	20.37:g.43933378C>T	ENSP00000361840:p.Val45Met					MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.V45M|MATN4_ENST00000360607.5_Missense_Mutation_p.V45M|MATN4_ENST00000372756.1_Missense_Mutation_p.V45M|MATN4_ENST00000353917.5_Missense_Mutation_p.V45M|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.V45M	p.V45M			O95460	MATN4_HUMAN			4	377	-		Myeloproliferative disorder(115;0.0122)	45			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.133G>A		.	.	.	.	.	.	.	.	.	.	C	20.6	4.025058	0.75390	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	4.2	4.2	0.49525	.	0.000000	0.38111	N	0.001807	D	0.90672	0.7074	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.973;1.0;0.999	D	0.92198	0.5765	10	0.87932	D	0	.	15.711	0.77626	0.0:1.0:0.0:0.0	.	45;45;45	A6NNA4;O95460-4;O95460-2	.;.;.	M	45	ENSP00000361840:V45M;ENSP00000361842:V45M;ENSP00000243983:V45M;ENSP00000353819:V45M;ENSP00000343164:V45M;ENSP00000440328:V45M	ENSP00000255132:V45M	V	-	1	0	MATN4	43366792	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.808000	0.69165	2.161000	0.67846	0.462000	0.41574	GTG		0.632	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			19	41	0	0	0	1	0	19	41				
NUP37	79023	broad.mit.edu	37	12	102468812	102468812	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:102468812G>A	ENST00000552283.1	-	9	973	c.834C>T	c.(832-834)agC>agT	p.S278S	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Silent_p.S278S			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	278					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TTTGAAACTGGCTTGCCATTT	0.343																																						ENST00000552283.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						c.(832-834)agC>agT		nucleoporin 37kDa							90.0	83.0	85.0					12																	102468812		2203	4300	6503	SO:0001819	synonymous_variant	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102468812G>A	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.834C>T	12.37:g.102468812G>A						NUP37_ENST00000251074.1_Silent_p.S278S	p.S278S			Q8NFH4	NUP37_HUMAN			9	973	-			278					Q9H644	Silent	SNP	ENST00000552283.1	37	c.834C>T	CCDS9089.1																																																																																				0.343	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		22	24	0	0	0	1	0	22	24				
ALDH1B1	219	broad.mit.edu	37	9	38395909	38395909	+	Missense_Mutation	SNP	C	C	T	rs144062423		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:38395909C>T	ENST00000377698.3	+	2	317	c.164C>T	c.(163-165)cCg>cTg	p.P55L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	55					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AAGACCTTCCCGACGGTCAAC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19197	0.0		0.001	False		,,,				2504	0.0					ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(163-165)cCg>cTg		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)	C	LEU/PRO	0,4406		0,0,2203	97.0	89.0	92.0		164	4.0	0.7	9	dbSNP_134	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ALDH1B1	NM_000692.4	98	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	55/518	38395909	3,13003	2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38395909C>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.164C>T	9.37:g.38395909C>T	ENSP00000366927:p.Pro55Leu						p.P55L	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	317	+			55					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.164C>T	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295648	0.23564	0.0	3.49E-4	ENSG00000137124	ENST00000377698	T	0.76448	-1.02	5.81	3.97	0.46021	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000005	T	0.76140	0.3946	M	0.80746	2.51	0.58432	D	0.999998	B	0.32203	0.36	B	0.26202	0.067	T	0.75706	-0.3224	10	0.87932	D	0	.	11.3921	0.49820	0.0:0.8637:0.0:0.1363	.	55	P30837	AL1B1_HUMAN	L	55	ENSP00000366927:P55L	ENSP00000366927:P55L	P	+	2	0	ALDH1B1	38385909	1.000000	0.71417	0.679000	0.29978	0.196000	0.23810	4.420000	0.59841	0.796000	0.33947	0.655000	0.94253	CCG		0.597	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			37	63	0	0	0	1	0	37	63				
SCN8A	6334	broad.mit.edu	37	12	52200125	52200125	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:52200125A>G	ENST00000354534.6	+	27	5033	c.4855A>G	c.(4855-4857)Atc>Gtc	p.I1619V	SCN8A_ENST00000545061.1_Missense_Mutation_p.I1578V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1619					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATTCCGAGTCATCCGATTGGC	0.458																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(4855-4857)Atc>Gtc		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						164.0	171.0	169.0					12																	52200125		2020	4215	6235	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200125A>G	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4855A>G	12.37:g.52200125A>G	ENSP00000346534:p.Ile1619Val					SCN8A_ENST00000545061.1_Missense_Mutation_p.I1578V	p.I1619V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5033	+			1619					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4855A>G	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.922470	0.52653	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.98362	-4.89;-4.89	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95875	0.8657	N	0.16201	0.385	0.80722	D	1	P	0.44578	0.838	P	0.47786	0.557	D	0.95530	0.8602	10	0.30854	T	0.27	.	15.7455	0.77936	1.0:0.0:0.0:0.0	.	1619	Q9UQD0	SCN8A_HUMAN	V	1619;1578	ENSP00000346534:I1619V;ENSP00000440360:I1578V	ENSP00000346534:I1619V	I	+	1	0	SCN8A	50486392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.139000	0.94554	2.367000	0.80283	0.528000	0.53228	ATC		0.458	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		88	116	0	0	0	1	0	88	116				
BCAS3	54828	broad.mit.edu	37	17	58767096	58767096	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:58767096T>C	ENST00000390652.5	+	4	219	c.188T>C	c.(187-189)gTc>gCc	p.V63A	BCAS3_ENST00000407086.3_Missense_Mutation_p.V63A|BCAS3_ENST00000588462.1_Missense_Mutation_p.V63A|BCAS3_ENST00000589222.1_Missense_Mutation_p.V63A|BCAS3_ENST00000408905.3_Missense_Mutation_p.V63A	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATAGTCTGGGTCAGATTTGAA	0.328																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(187-189)gTc>gCc		breast carcinoma amplified sequence 3							135.0	138.0	137.0					17																	58767096		1804	4064	5868	SO:0001583	missense	54828					nucleus		g.chr17:58767096T>C	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.188T>C	17.37:g.58767096T>C	ENSP00000375067:p.Val63Ala					BCAS3_ENST00000407086.3_Missense_Mutation_p.V63A|BCAS3_ENST00000408905.3_Missense_Mutation_p.V63A|BCAS3_ENST00000588462.1_Missense_Mutation_p.V63A|BCAS3_ENST00000390652.5_Missense_Mutation_p.V63A	p.V63A			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		4	256	+			63						Missense_Mutation	SNP	ENST00000390652.5	37	c.188T>C	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	T	6.138	0.393690	0.11638	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	T;T;T	0.04049	3.72;3.72;3.72	5.14	5.14	0.70334	.	0.056498	0.64402	D	0.000001	T	0.02571	0.0078	N	0.11201	0.11	0.80722	D	1	B;B;B	0.32573	0.202;0.064;0.376	B;B;B	0.27887	0.039;0.028;0.084	T	0.36768	-0.9734	10	0.02654	T	1	.	14.6019	0.68447	0.0:0.0:0.0:1.0	.	63;63;63	Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;BCAS3_HUMAN;.	A	63	ENSP00000375067:V63A;ENSP00000385323:V63A;ENSP00000386173:V63A	ENSP00000375067:V63A	V	+	2	0	BCAS3	56121878	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.898000	0.69838	1.928000	0.55862	0.383000	0.25322	GTC		0.328	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		19	30	0	0	0	1	0	19	30				
RGAG1	57529	broad.mit.edu	37	X	109694816	109694816	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:109694816T>C	ENST00000465301.2	+	3	1217	c.971T>C	c.(970-972)cTa>cCa	p.L324P	RGAG1_ENST00000540313.1_Missense_Mutation_p.L324P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	324										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCCACACCGCTACTGTCAGTC	0.502																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(970-972)cTa>cCa		retrotransposon gag domain containing 1							258.0	236.0	244.0					X																	109694816		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694816T>C	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.971T>C	X.37:g.109694816T>C	ENSP00000419786:p.Leu324Pro					RGAG1_ENST00000540313.1_Missense_Mutation_p.L324P	p.L324P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1217	+			324					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.971T>C	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.801390	0.50315	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.60171	0.21;0.21	4.42	2.0	0.26442	.	0.272394	0.19739	N	0.107173	T	0.55226	0.1907	L	0.29908	0.895	0.20489	N	0.999897	D	0.67145	0.996	D	0.64410	0.925	T	0.40308	-0.9570	9	.	.	.	-2.9105	4.3244	0.11032	0.1785:0.1019:0.0:0.7196	.	324	Q8NET4	RGAG1_HUMAN	P	324	ENSP00000419786:L324P;ENSP00000441452:L324P	.	L	+	2	0	RGAG1	109581472	0.002000	0.14202	0.000000	0.03702	0.371000	0.29859	1.055000	0.30467	0.293000	0.22520	0.486000	0.48141	CTA		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		36	364	0	0	0	1	0	36	364				
RNF169	254225	broad.mit.edu	37	11	74547475	74547475	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:74547475C>G	ENST00000299563.4	+	6	1840	c.1827C>G	c.(1825-1827)agC>agG	p.S609R		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	609					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TAGTTGAGAGCCTAAGTGAAG	0.423																																						ENST00000299563.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(1825-1827)agC>agG		ring finger protein 169							80.0	75.0	76.0					11																	74547475		1905	4110	6015	SO:0001583	missense	254225						zinc ion binding	g.chr11:74547475C>G	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1827C>G	11.37:g.74547475C>G	ENSP00000299563:p.Ser609Arg						p.S609R	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN			6	1840	+			609					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.1827C>G	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	5.719	0.317169	0.10845	.	.	ENSG00000166439	ENST00000299563	T	0.44482	0.92	5.53	1.44	0.22558	.	0.806631	0.11772	N	0.531019	T	0.27098	0.0664	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.20672	-1.0268	10	0.25106	T	0.35	-3.7732	6.8254	0.23880	0.0:0.6356:0.1327:0.2317	.	609	Q8NCN4	RN169_HUMAN	R	609	ENSP00000299563:S609R	ENSP00000299563:S609R	S	+	3	2	RNF169	74225123	0.000000	0.05858	0.004000	0.12327	0.813000	0.45954	-0.018000	0.12568	0.370000	0.24538	0.655000	0.94253	AGC		0.423	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		35	65	0	0	0	1	0	35	65				
VIPAS39	63894	broad.mit.edu	37	14	77920439	77920439	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:77920439G>A	ENST00000553888.1	-	2	517	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	VIPAS39_ENST00000343765.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000557658.1_Missense_Mutation_p.R3W|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R29W|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R3W	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	3					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											CCCTTTGTCCGATTCATCTAC	0.453																																						ENST00000553888.1																			0											c.(7-9)Cgg>Tgg		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							140.0	112.0	122.0					14																	77920439		2203	4300	6503	SO:0001583	missense	63894							g.chr14:77920439G>A	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.7C>T	14.37:g.77920439G>A	ENSP00000452181:p.Arg3Trp					VIPAS39_ENST00000557658.1_Missense_Mutation_p.R3W|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R29W|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R3W	p.R3W	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					2	517	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.7C>T	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929860	0.73327	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412;ENST00000557466	T;T;T;T;T;T;T	0.80994	-1.27;-1.27;-1.24;-1.27;-1.33;-1.32;-1.44	5.21	4.29	0.51040	.	0.125513	0.51477	D	0.000089	D	0.82328	0.5013	L	0.40543	1.245	0.39592	D	0.969604	D;D	0.89917	0.999;1.0	P;P	0.60415	0.849;0.874	D	0.84444	0.0584	10	0.87932	D	0	-14.9193	11.2212	0.48855	0.0:0.0:0.5311:0.4689	.	3;3	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	W	3;3;3;3;3;29;3	ENSP00000339122:R3W;ENSP00000452181:R3W;ENSP00000313098:R3W;ENSP00000452191:R3W;ENSP00000404815:R3W;ENSP00000451857:R29W;ENSP00000452176:R3W	ENSP00000313098:R3W	R	-	1	2	VIPAR	76990192	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.413000	0.34725	1.357000	0.45904	0.655000	0.94253	CGG		0.453	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		29	28	0	0	0	1	0	29	28				
TEAD2	8463	broad.mit.edu	37	19	49845739	49845739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49845739G>A	ENST00000311227.2	-	11	1276	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	TEAD2_ENST00000598810.1_Nonsense_Mutation_p.R400*|TEAD2_ENST00000593945.1_Nonsense_Mutation_p.R400*|CTC-301O7.4_ENST00000358234.4_lincRNA|TEAD2_ENST00000377214.4_Nonsense_Mutation_p.R399*|TEAD2_ENST00000539846.1_Nonsense_Mutation_p.R268*|TEAD2_ENST00000601519.1_Nonsense_Mutation_p.R399*	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	396	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ATCATGTATCGCTCAGGCAGC	0.602																																						ENST00000377214.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(1195-1197)Cga>Tga		TEA domain family member 2							69.0	64.0	66.0					19																	49845739		2203	4300	6503	SO:0001587	stop_gained	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49845739G>A	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.1186C>T	19.37:g.49845739G>A	ENSP00000310701:p.Arg396*					TEAD2_ENST00000598810.1_Nonsense_Mutation_p.R400*|TEAD2_ENST00000539846.1_Nonsense_Mutation_p.R268*|TEAD2_ENST00000593945.1_Nonsense_Mutation_p.R400*|TEAD2_ENST00000601519.1_Nonsense_Mutation_p.R399*|TEAD2_ENST00000311227.2_Nonsense_Mutation_p.R396*	p.R399*			Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	10	1557	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	396			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Nonsense_Mutation	SNP	ENST00000311227.2	37	c.1195C>T	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097944	0.94197	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	.	.	.	3.9	1.73	0.24493	.	0.425959	0.20389	N	0.093297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-17.671	4.0671	0.09866	0.208:0.0:0.6078:0.1843	.	.	.	.	X	396;399;268	.	ENSP00000310701:R396X	R	-	1	2	TEAD2	54537551	1.000000	0.71417	0.992000	0.48379	0.919000	0.55068	4.715000	0.61909	0.406000	0.25560	-0.888000	0.02935	CGA		0.602	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		41	54	0	0	0	1	0	41	54				
SNHG24	101929369	broad.mit.edu	37	14	101442876	101442876	+	lincRNA	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:101442876C>G	ENST00000554693.2	+	0	548				SNORD113_ENST00000364166.1_RNA|SNORD114-19_ENST00000363072.1_RNA|SNORD114-17_ENST00000364699.1_RNA|SNORD114-18_ENST00000365272.1_RNA|SNORD113_ENST00000364630.1_RNA|SNORD114-16_ENST00000363044.1_RNA																							GTGTGTGGAACTCTGAGGTCC	0.323																																						ENST00000554693.2																			0																				136.0	134.0	135.0					14																	101442876		876	1991	2867			0							g.chr14:101442876C>G																													14.37:g.101442876C>G						SNORD114-19_ENST00000363072.1_RNA								0	548	+									RNA	SNP	ENST00000554693.2	37																																																																																						0.323	RP11-909M7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468646.1			49	72	0	0	0	1	0	49	72				
CNOT11	55571	broad.mit.edu	37	2	101883155	101883155	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:101883155A>G	ENST00000289382.3	+	5	1215	c.1052A>G	c.(1051-1053)gAa>gGa	p.E351G		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	351					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											GGTGAGTTGGAAAAAGACCCC	0.398																																						ENST00000289382.3																			0											c.(1051-1053)gAa>gGa		CCR4-NOT transcription complex, subunit 11							116.0	117.0	116.0					2																	101883155		2203	4300	6503	SO:0001583	missense	55571							g.chr2:101883155A>G	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1052A>G	2.37:g.101883155A>G	ENSP00000289382:p.Glu351Gly						p.E351G	NM_017546.4	NP_060016.3					5	1215	+								Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	c.1052A>G	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757305	0.89843	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.95	5.95	0.96441	.	0.048600	0.85682	D	0.000000	T	0.62720	0.2451	M	0.74647	2.275	0.80722	D	1	P	0.49961	0.93	P	0.44422	0.449	T	0.64765	-0.6330	9	0.35671	T	0.21	-23.6082	16.4237	0.83790	1.0:0.0:0.0:0.0	.	351	Q9UKZ1	CB029_HUMAN	G	351	.	ENSP00000289382:E351G	E	+	2	0	C2orf29	101249587	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.210000	0.95106	2.279000	0.76181	0.533000	0.62120	GAA		0.398	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		65	80	0	0	0	1	0	65	80				
PARG	8505	broad.mit.edu	37	10	51069693	51069693	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:51069693T>C	ENST00000402038.3	-	8	690	c.691A>G	c.(691-693)Aca>Gca	p.T231A		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	716	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGCAATCGTGTCAAGGGTTTT	0.358																																						ENST00000402038.3																			0				endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(691-693)Aca>Gca		poly (ADP-ribose) glycohydrolase							30.0	39.0	36.0					10																	51069693		692	1581	2273	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51069693T>C	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.691A>G	10.37:g.51069693T>C	ENSP00000384408:p.Thr231Ala						p.T231A	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	8	690	-			716					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.691A>G		.	.	.	.	.	.	.	.	.	.	T	11.62	1.693385	0.30052	.	.	ENSG00000227345	ENST00000402038	.	.	.	4.75	4.75	0.60458	.	0.083859	0.46758	U	0.000274	T	0.40694	0.1127	L	0.47716	1.5	.	.	.	P;P;P;B;B;P	0.42735	0.51;0.788;0.698;0.412;0.412;0.788	B;P;B;B;B;P	0.45167	0.228;0.472;0.257;0.17;0.238;0.472	T	0.46789	-0.9166	8	0.08381	T	0.77	-3.7512	9.299	0.37833	0.205:0.0:0.0:0.7949	.	634;716;267;231;256;716	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	A	231	.	ENSP00000384408:T231A	T	-	1	0	PARG	50739699	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.335000	0.52105	1.762000	0.52044	0.379000	0.24179	ACA		0.358	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		8	8	0	0	0	1	0	8	8				
VPS13C	54832	broad.mit.edu	37	15	62201259	62201259	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:62201259G>A	ENST00000261517.5	-	65	8983	c.8910C>T	c.(8908-8910)taC>taT	p.Y2970Y	VPS13C_ENST00000395896.4_Silent_p.Y2970Y|VPS13C_ENST00000395898.3_Silent_p.Y2927Y|VPS13C_ENST00000249837.3_Silent_p.Y2927Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATCCCTCATGGTAATCAGAAA	0.378																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(8908-8910)taC>taT		vacuolar protein sorting 13 homolog C (S. cerevisiae)							155.0	143.0	147.0					15																	62201259		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62201259G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8910C>T	15.37:g.62201259G>A						VPS13C_ENST00000395898.3_Silent_p.Y2927Y|VPS13C_ENST00000249837.3_Silent_p.Y2927Y|VPS13C_ENST00000395896.4_Silent_p.Y2970Y	p.Y2970Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			65	8983	-			2970						Silent	SNP	ENST00000261517.5	37	c.8910C>T	CCDS32257.1																																																																																				0.378	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		24	30	0	0	0	1	0	24	30				
APEH	327	broad.mit.edu	37	3	49723549	49723549	+	IGR	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:49723549G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.R365C|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGGCCGCGCGCATGCCGGGC	0.672																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1093-1095)Cgc>Tgc		macrophage stimulating 1 (hepatocyte growth factor-like)							13.0	16.0	15.0					3																	49723549		2196	4288	6484	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723549G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723549G>A						MST1_ENST00000383728.3_3'UTR	p.R365C	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1454	-			351					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1093C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641249	0.87859	.	.	ENSG00000173531	ENST00000449682	T	0.68765	-0.35	5.4	5.4	0.78164	.	0.000000	0.43110	D	0.000608	D	0.85974	0.5822	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89392	0.3689	10	0.87932	D	0	.	13.7245	0.62750	0.0:0.0:0.8457:0.1543	.	365	G3XAK1	.	C	365	ENSP00000414287:R365C	ENSP00000414287:R365C	R	-	1	0	MST1	49698553	1.000000	0.71417	0.991000	0.47740	0.889000	0.51656	5.074000	0.64401	2.526000	0.85167	0.655000	0.94253	CGC		0.672	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			17	15	0	0	0	1	0	17	15				
RPUSD2	27079	broad.mit.edu	37	15	40861959	40861959	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:40861959G>T	ENST00000315616.7	+	1	461	c.423G>T	c.(421-423)aaG>aaT	p.K141N	RPUSD2_ENST00000559271.1_Splice_Site_p.K141N	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	141					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GCCTGCGTAAGGTGCGGCCCT	0.607																																						ENST00000315616.7																			0				kidney(4)|lung(4)|skin(3)	11						c.(421-423)aaG>aaT		RNA pseudouridylate synthase domain containing 2							35.0	29.0	31.0					15																	40861959		2203	4300	6503	SO:0001583	missense	27079				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr15:40861959G>T	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.423G>T	15.37:g.40861959G>T	ENSP00000323288:p.Lys141Asn					RPUSD2_ENST00000559271.1_Splice_Site_p.K141_splice	p.K141N	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)	1	461	+		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	141					B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	c.423G>T	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394655	0.83011	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.35789	1.29	5.93	1.77	0.24775	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.56019	-0.8048	10	0.72032	D	0.01	-22.2246	10.3951	0.44196	0.25:0.0:0.75:0.0	.	141	Q8IZ73	RUSD2_HUMAN	N	141;120	ENSP00000323288:K141N	ENSP00000323288:K141N	K	+	3	2	RPUSD2	38649251	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.918000	0.48829	0.053000	0.16036	-0.136000	0.14681	AAG		0.607	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260		3	19	1	0	0.004672	1	0.00472589	3	19				
CXorf21	80231	broad.mit.edu	37	X	30578299	30578299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:30578299G>T	ENST00000378962.3	-	3	496	c.174C>A	c.(172-174)tgC>tgA	p.C58*		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	58										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CAGATGATTTGCAGCTCACGT	0.468																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(172-174)tgC>tgA		chromosome X open reading frame 21							176.0	158.0	164.0					X																	30578299		2202	4300	6502	SO:0001587	stop_gained	80231							g.chrX:30578299G>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.174C>A	X.37:g.30578299G>T	ENSP00000368245:p.Cys58*						p.C58*	NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN			3	496	-			58						Nonsense_Mutation	SNP	ENST00000378962.3	37	c.174C>A	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357774	0.95854	.	.	ENSG00000120280	ENST00000378962	.	.	.	4.95	3.18	0.36537	.	0.165190	0.43110	D	0.000612	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7406	7.5607	0.27849	0.3419:0.0:0.6581:0.0	.	.	.	.	X	58	.	ENSP00000368245:C58X	C	-	3	2	CXorf21	30488220	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	2.157000	0.42320	0.594000	0.29761	0.544000	0.68410	TGC		0.468	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		101	134	1	0	1.61169e-53	1	1.82852e-53	101	134				
MSH4	4438	broad.mit.edu	37	1	76262890	76262890	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:76262890G>A	ENST00000263187.3	+	1	324	c.220G>A	c.(220-222)Gcg>Acg	p.A74T		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	74					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCCTGCCCCGCGCCAAACTC	0.672								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(220-222)Gcg>Acg	Mismatch excision repair (MMR)	mutS homolog 4																																				SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76262890G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.220G>A	1.37:g.76262890G>A	ENSP00000263187:p.Ala74Thr						p.A74T	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			1	324	+			74					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.220G>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	0.705	-0.789369	0.02884	.	.	ENSG00000057468	ENST00000263187	D	0.88124	-2.34	3.68	0.595	0.17490	.	432.366000	0.00166	N	0.000012	T	0.48840	0.1522	N	0.03608	-0.345	0.09310	N	1	B	0.15719	0.014	B	0.09377	0.004	T	0.54510	-0.8283	10	0.11182	T	0.66	.	7.9303	0.29899	0.1637:0.4879:0.3484:0.0	.	74	O15457	MSH4_HUMAN	T	74	ENSP00000263187:A74T	ENSP00000263187:A74T	A	+	1	0	MSH4	76035478	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.009000	0.03660	0.131000	0.18576	-0.502000	0.04539	GCG		0.672	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		7	7	0	0	0	1	0	7	7				
PUS7L	83448	broad.mit.edu	37	12	44139886	44139886	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:44139886A>G	ENST00000416848.2	-	4	1714	c.1226T>C	c.(1225-1227)cTg>cCg	p.L409P	PUS7L_ENST00000551923.1_Missense_Mutation_p.L409P|PUS7L_ENST00000431332.3_Missense_Mutation_p.L96P|PUS7L_ENST00000344862.5_Missense_Mutation_p.L409P	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	409					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTCTCCCTCAGGTTTGCAGA	0.338																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1225-1227)cTg>cCg		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							42.0	41.0	42.0					12																	44139886		2202	4294	6496	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44139886A>G	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1226T>C	12.37:g.44139886A>G	ENSP00000415899:p.Leu409Pro					PUS7L_ENST00000431332.3_Missense_Mutation_p.L96P|PUS7L_ENST00000344862.5_Missense_Mutation_p.L409P|PUS7L_ENST00000551923.1_Missense_Mutation_p.L409P	p.L409P	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	4	1714	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	409					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.1226T>C	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.088847	0.55968	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332;ENST00000550784;ENST00000547156	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	4.45	3.33	0.38152	Pseudouridine synthase, catalytic domain (1);	0.162334	0.42053	D	0.000770	T	0.52108	0.1714	M	0.63428	1.95	0.80722	D	1	D	0.63046	0.992	P	0.58077	0.832	T	0.54016	-0.8356	10	0.52906	T	0.07	-2.0775	9.8769	0.41209	0.9167:0.0:0.0833:0.0	.	409	Q9H0K6	PUS7L_HUMAN	P	409;409;409;96;96;96	ENSP00000415899:L409P;ENSP00000343081:L409P;ENSP00000447706:L409P;ENSP00000398497:L96P;ENSP00000449222:L96P;ENSP00000450341:L96P	ENSP00000343081:L409P	L	-	2	0	PUS7L	42426153	0.965000	0.33210	0.742000	0.31022	0.717000	0.41224	4.159000	0.58157	1.933000	0.56026	0.460000	0.39030	CTG		0.338	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		6	13	0	0	0	1	0	6	13				
SECISBP2	79048	broad.mit.edu	37	9	91964840	91964840	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:91964840A>G	ENST00000375807.3	+	13	1959	c.1888A>G	c.(1888-1890)Agg>Ggg	p.R630G	SECISBP2_ENST00000339901.4_Missense_Mutation_p.R557G|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R562G	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	630					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCGCAGATTCAGGGAGTGAGT	0.567																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(1888-1890)Agg>Ggg		SECIS binding protein 2							89.0	76.0	81.0					9																	91964840		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91964840A>G	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1888A>G	9.37:g.91964840A>G	ENSP00000364965:p.Arg630Gly					SECISBP2_ENST00000339901.4_Missense_Mutation_p.R557G|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R562G	p.R630G	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			13	1959	+			630					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.1888A>G	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.670877	0.67814	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	D;D;D	0.81908	-1.5;-1.55;-1.54	4.73	2.35	0.29111	.	0.000000	0.85682	D	0.000000	D	0.89791	0.6817	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.991;0.997;0.994	D	0.88865	0.3329	10	0.87932	D	0	-23.1315	10.6156	0.45447	0.5795:0.4205:0.0:0.0	.	637;557;630	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	G	630;636;557;562	ENSP00000364965:R630G;ENSP00000364959:R557G;ENSP00000436650:R562G	ENSP00000364959:R557G	R	+	1	2	SECISBP2	91154660	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.073000	0.30691	0.298000	0.22638	-0.313000	0.08912	AGG		0.567	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		30	38	0	0	0	1	0	30	38				
KRT4	3851	broad.mit.edu	37	12	53202570	53202570	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:53202570C>T	ENST00000551956.1	-	5	1391	c.899G>A	c.(898-900)cGc>cAc	p.R300H	KRT4_ENST00000458244.2_Missense_Mutation_p.R280H|KRT4_ENST00000293774.4_Missense_Mutation_p.R374H			P19013	K2C4_HUMAN	keratin 4	314	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTCCAGGTTGCGGTTGTTGTC	0.592																																					Pancreas(190;284 2995 41444 45903)	ENST00000293774.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(1120-1122)cGc>cAc		keratin 4							109.0	98.0	101.0					12																	53202570		2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53202570C>T		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.899G>A	12.37:g.53202570C>T	ENSP00000448220:p.Arg300His					KRT4_ENST00000458244.2_Missense_Mutation_p.R280H|KRT4_ENST00000551956.1_Missense_Mutation_p.R300H	p.R374H			B4DRS2	B4DRS2_HUMAN			5	1391	-			300					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.1121G>A	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	36	5.748052	0.96882	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.92752	-3.1;-2.22;-2.22	5.75	5.75	0.90469	Filament (1);	0.000000	0.47852	D	0.000219	D	0.96213	0.8765	M	0.80616	2.505	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	D	0.95922	0.8931	10	0.72032	D	0.01	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	314	P19013	K2C4_HUMAN	H	300;374;280	ENSP00000448220:R300H;ENSP00000293774:R374H;ENSP00000387904:R280H	ENSP00000293774:R374H	R	-	2	0	KRT4	51488837	1.000000	0.71417	0.970000	0.41538	0.907000	0.53573	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	CGC		0.592	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		31	47	0	0	0	1	0	31	47				
RABGGTA	5875	broad.mit.edu	37	14	24734837	24734837	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:24734837C>T	ENST00000399409.3	-	16	2171	c.1688G>A	c.(1687-1689)aGc>aAc	p.S563N	TGM1_ENST00000206765.6_5'Flank|TGM1_ENST00000544573.1_5'Flank|RABGGTA_ENST00000560777.1_Missense_Mutation_p.S172N|RABGGTA_ENST00000216840.6_Missense_Mutation_p.S563N	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	563					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GAGGACGCTGCTAACTGAAGG	0.582																																						ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(1687-1689)aGc>aAc		Rab geranylgeranyltransferase, alpha subunit							39.0	42.0	41.0					14																	24734837		2022	4177	6199	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24734837C>T		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1688G>A	14.37:g.24734837C>T	ENSP00000382341:p.Ser563Asn					RABGGTA_ENST00000560777.1_Missense_Mutation_p.S172N|RABGGTA_ENST00000216840.6_Missense_Mutation_p.S563N	p.S563N	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	16	2171	-			563					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.1688G>A	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	0.585	-0.835252	0.02713	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.48522	0.81;0.81	5.67	-2.72	0.05968	.	0.728833	0.14087	N	0.342322	T	0.16727	0.0402	N	0.04768	-0.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.15499	T	0.54	-2.142	1.717	0.02904	0.125:0.2312:0.2013:0.4425	.	563	Q92696	PGTA_HUMAN	N	563	ENSP00000216840:S563N;ENSP00000382341:S563N	ENSP00000216840:S563N	S	-	2	0	RABGGTA	23804677	0.003000	0.15002	0.334000	0.25495	0.034000	0.12701	0.015000	0.13355	-0.156000	0.11079	-0.369000	0.07265	AGC		0.582	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		26	19	0	0	0	1	0	26	19				
SVIL	6840	broad.mit.edu	37	10	29822253	29822253	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:29822253G>A	ENST00000355867.4	-	8	1795	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	SVIL_ENST00000375398.2_Missense_Mutation_p.A348V|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	348					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTATCAAAGGCTGAGTGCTC	0.572																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(1042-1044)gCc>gTc		supervillin							97.0	82.0	87.0					10																	29822253		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29822253G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1043C>T	10.37:g.29822253G>A	ENSP00000348128:p.Ala348Val					SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.A348V	p.A348V			O95425	SVIL_HUMAN			10	1492	-		Breast(68;0.103)	348					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.1043C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224361	0.79576	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.51325	0.71;0.71	5.85	5.85	0.93711	.	0.080450	0.51477	D	0.000094	T	0.53465	0.1798	M	0.64997	1.995	0.80722	D	1	P	0.44690	0.841	B	0.43754	0.43	T	0.50668	-0.8801	9	.	.	.	-15.1175	20.1577	0.98120	0.0:0.0:1.0:0.0	.	348	O95425	SVIL_HUMAN	V	348	ENSP00000364547:A348V;ENSP00000348128:A348V	.	A	-	2	0	SVIL	29862259	1.000000	0.71417	0.977000	0.42913	0.740000	0.42216	4.938000	0.63519	2.767000	0.95098	0.655000	0.94253	GCC		0.572	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			50	41	0	0	0	1	0	50	41				
LYN	4067	broad.mit.edu	37	8	56863330	56863330	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:56863330T>C	ENST00000519728.1	+	6	770	c.474T>C	c.(472-474)agT>agC	p.S158S	LYN_ENST00000520220.2_Silent_p.S137S	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	158	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TTAGAGAAAGTGAAACATTAA	0.373																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(409-411)agT>agC		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							72.0	80.0	77.0					8																	56863330		2203	4300	6503	SO:0001819	synonymous_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56863330T>C	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.474T>C	8.37:g.56863330T>C						LYN_ENST00000519728.1_Silent_p.S158S	p.S137S	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		6	685	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	158			SH2.		A0AVQ5	Silent	SNP	ENST00000519728.1	37	c.411T>C	CCDS6162.1																																																																																				0.373	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		25	122	0	0	0	1	0	25	122				
PLCXD1	55344	broad.mit.edu	37	X	215973	215973	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:215973G>A	ENST00000381657.2	+	7	1457	c.943G>A	c.(943-945)Gcg>Acg	p.A315T	PLCXD1_ENST00000399012.1_Missense_Mutation_p.A315T|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A315T	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	315					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGACGTCATCGCGCTCAATCA	0.617																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(943-945)Gcg>Acg		phosphatidylinositol-specific phospholipase C, X domain containing 1							85.0	75.0	79.0					X																	215973		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215973G>A	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.943G>A	X.37:g.215973G>A	ENSP00000371073:p.Ala315Thr					PLCXD1_ENST00000399012.1_Missense_Mutation_p.A315T|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A315T	p.A315T	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			7	1457	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	315					A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.943G>A	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	0.047	-1.261865	0.01445	.	.	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	.	.	.	1.77	-0.998	0.10212	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	1.373920	0.04362	N	0.357570	T	0.18299	0.0439	.	.	.	0.09310	N	1	B	0.24768	0.111	B	0.14023	0.01	T	0.12993	-1.0526	8	0.19147	T	0.46	-7.8793	3.748	0.08555	0.2741:0.2401:0.4857:0.0	.	315	Q9NUJ7	PLCX1_HUMAN	T	315	.	ENSP00000371073:A315T	A	+	1	0	PLCXD1	155973	0.001000	0.12720	0.697000	0.30258	0.022000	0.10575	0.464000	0.21988	-0.055000	0.13244	0.181000	0.17075	GCG		0.617	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		26	35	0	0	0	1	0	26	35				
SVIL	6840	broad.mit.edu	37	10	29812587	29812587	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:29812587C>A	ENST00000355867.4	-	15	3708	c.2956G>T	c.(2956-2958)Gac>Tac	p.D986Y	SVIL_ENST00000375398.2_Missense_Mutation_p.D986Y|SVIL_ENST00000535393.1_5'Flank|SVIL_ENST00000375400.3_Missense_Mutation_p.D560Y	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	986					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTATGGCTGTCTCCTTCCCTG	0.532																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(2956-2958)Gac>Tac		supervillin							129.0	115.0	120.0					10																	29812587		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29812587C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2956G>T	10.37:g.29812587C>A	ENSP00000348128:p.Asp986Tyr					SVIL_ENST00000375400.3_Missense_Mutation_p.D560Y|SVIL_ENST00000355867.4_Missense_Mutation_p.D986Y	p.D986Y			O95425	SVIL_HUMAN			17	3405	-		Breast(68;0.103)	986					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.2956G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918790	0.33908	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.13307	2.6;2.63;2.63	4.94	4.04	0.47022	.	0.502787	0.23571	N	0.046746	T	0.31857	0.0810	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.931	T	0.02161	-1.1203	9	.	.	.	-13.8177	9.8319	0.40948	0.0:0.9034:0.0:0.0966	.	560;986	O95425-2;O95425	.;SVIL_HUMAN	Y	560;986;986	ENSP00000364549:D560Y;ENSP00000364547:D986Y;ENSP00000348128:D986Y	.	D	-	1	0	SVIL	29852593	0.423000	0.25482	0.341000	0.25589	0.066000	0.16364	1.944000	0.40263	1.210000	0.43336	0.563000	0.77884	GAC		0.532	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			37	58	1	0	1.36161e-19	1	1.50017e-19	37	58				
ZNFX1	57169	broad.mit.edu	37	20	47892343	47892343	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:47892343G>A	ENST00000396105.1	-	2	280	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000450535.1_RNA|ZFAS1_ENST00000417721.1_RNA|ZNFX1_ENST00000371752.1_Missense_Mutation_p.P12S|ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000371743.3_RNA|ZFAS1_ENST00000458653.1_RNA|ZNFX1_ENST00000371754.4_Missense_Mutation_p.P12S|ZFAS1_ENST00000441722.1_RNA	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	12							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAATTCCTGGGCCTGGCATCC	0.423																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(34-36)Ccc>Tcc		zinc finger, NFX1-type containing 1							186.0	156.0	166.0					20																	47892343		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47892343G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.34C>T	20.37:g.47892343G>A	ENSP00000379412:p.Pro12Ser					ZNFX1_ENST00000371752.1_Missense_Mutation_p.P12S|ZNFX1_ENST00000371754.4_Missense_Mutation_p.P12S	p.P12S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	280	-			12					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.34C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529570	0.44969	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000537431;ENST00000371744	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.84	3.87	0.44632	.	0.455507	0.18916	N	0.127610	T	0.36054	0.0953	L	0.44542	1.39	0.30218	N	0.797049	B	0.26081	0.141	B	0.28553	0.091	T	0.39231	-0.9624	10	0.52906	T	0.07	-2.8354	10.7899	0.46426	0.0:0.1916:0.8084:0.0	.	12	Q9P2E3	ZNFX1_HUMAN	S	12	ENSP00000360819:P12S;ENSP00000360817:P12S;ENSP00000379412:P12S;ENSP00000360809:P12S	ENSP00000360809:P12S	P	-	1	0	ZNFX1	47325750	0.956000	0.32656	0.997000	0.53966	0.954000	0.61252	1.295000	0.33377	1.235000	0.43724	0.555000	0.69702	CCC		0.423	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		24	63	0	0	0	1	0	24	63				
SPG7	6687	broad.mit.edu	37	16	89617001	89617001	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:89617001C>T	ENST00000268704.2	+	13	1778	c.1763C>T	c.(1762-1764)aCg>aTg	p.T588M		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	588					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGGAGCACACGGAGGCCGTG	0.612																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1762-1764)aCg>aTg		spastic paraplegia 7 (pure and complicated autosomal recessive)							94.0	87.0	90.0					16																	89617001		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89617001C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1763C>T	16.37:g.89617001C>T	ENSP00000268704:p.Thr588Met						p.T588M	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	13	1778	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	588					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1763C>T	CCDS10977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.422056|4.422056	0.83559|0.83559	.|.	.|.	ENSG00000197912|ENSG00000197912	ENST00000312613|ENST00000268704	.|D	.|0.83419	.|-1.72	5.84|5.84	4.88|4.88	0.63580|0.63580	.|Peptidase M41 (1);Peptidase M41, FtsH (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90539|0.90539	0.7035|0.7035	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.91731|0.91731	0.5396|0.5396	6|10	0.87932|0.87932	D|D	0|0	-28.2621|-28.2621	15.3163|15.3163	0.74081|0.74081	0.0:0.9324:0.0:0.0676|0.0:0.9324:0.0:0.0676	.|.	.|588	.|Q9UQ90	.|SPG7_HUMAN	W|M	180|588	.|ENSP00000268704:T588M	ENSP00000310320:R180W|ENSP00000268704:T588M	R|T	+|+	1|2	2|0	SPG7|SPG7	88144502|88144502	1.000000|1.000000	0.71417|0.71417	0.889000|0.889000	0.34880|0.34880	0.825000|0.825000	0.46686|0.46686	7.568000|7.568000	0.82369|0.82369	1.470000|1.470000	0.48102|0.48102	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.612	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		46	45	0	0	0	1	0	46	45				
TNXB	7148	broad.mit.edu	37	6	32065702	32065702	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:32065702C>T	ENST00000479795.1	-	2	414	c.274G>A	c.(274-276)Gag>Aag	p.E92K	TNXB_ENST00000375247.2_Missense_Mutation_p.E92K|TNXB_ENST00000375244.3_Missense_Mutation_p.E92K			P22105	TENX_HUMAN	tenascin XB	92					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGGGGGCTCGGTGCCTGGG	0.607																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(274-276)Gag>Aag		tenascin XB							19.0	20.0	20.0					6																	32065702		1920	4114	6034	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32065702C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.274G>A	6.37:g.32065702C>T	ENSP00000418248:p.Glu92Lys					TNXB_ENST00000375247.2_Missense_Mutation_p.E92K|TNXB_ENST00000479795.1_Missense_Mutation_p.E92K	p.E92K			P22105	TENX_HUMAN			2	475	-			92					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.274G>A		.	.	.	.	.	.	.	.	.	.	C	26.7	4.767438	0.90020	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;D	0.92249	0.67;0.51;-3.0	4.48	4.48	0.54585	.	0.000000	0.42964	D	0.000635	D	0.93485	0.7921	M	0.64997	1.995	0.30057	N	0.811245	D	0.89917	1.0	D	0.79108	0.992	D	0.89992	0.4108	10	0.59425	D	0.04	.	14.1717	0.65514	0.0:1.0:0.0:0.0	.	92	P22105-3	.	K	92	ENSP00000364393:E92K;ENSP00000364396:E92K;ENSP00000418248:E92K	ENSP00000364393:E92K	E	-	1	0	TNXB	32173680	0.982000	0.34865	0.932000	0.37286	0.993000	0.82548	3.326000	0.52037	2.311000	0.77944	0.561000	0.74099	GAG		0.607	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		28	17	0	0	0	1	0	28	17				
GPR132	29933	broad.mit.edu	37	14	105518408	105518408	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:105518408C>T	ENST00000329797.3	-	4	977	c.66G>A	c.(64-66)ccG>ccA	p.P22P	GPR132_ENST00000392585.2_Silent_p.P13P|GPR132_ENST00000539291.2_Silent_p.P22P|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	22					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GGGAGGCCCACGGGGCAGTGG	0.622																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(64-66)ccG>ccA		G protein-coupled receptor 132							56.0	63.0	61.0					14																	105518408		2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518408C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.66G>A	14.37:g.105518408C>T						GPR132_ENST00000392585.2_Silent_p.P13P|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.P22P	p.P22P	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	977	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	22					A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.66G>A	CCDS9997.1																																																																																				0.622	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		65	70	0	0	0	1	0	65	70				
ARHGAP27	201176	broad.mit.edu	37	17	43473179	43473179	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:43473179C>A	ENST00000428638.1	-	16	2422	c.2423G>T	c.(2422-2424)cGt>cTt	p.R808L	CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R786L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R440L|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R467L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R781L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R467L|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.R586L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	808	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCAAGTCACGCACACAGCG	0.692																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(1756-1758)cGt>cTt		Rho GTPase activating protein 27							11.0	13.0	13.0					17																	43473179		2183	4274	6457	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43473179C>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.2423G>T	17.37:g.43473179C>A	ENSP00000403323:p.Arg808Leu					ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R467L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R440L|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R808L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R781L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R786L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R467L	p.R586L			Q6ZUM4	RHG27_HUMAN			15	1892	-	Renal(3;0.0405)		808			PH.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.1757G>T		.	.	.	.	.	.	.	.	.	.	C	13.91	2.377395	0.42105	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09	4.77	3.8	0.43715	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.483859	0.21855	N	0.068114	T	0.29684	0.0741	L	0.58428	1.81	0.21878	N	0.999498	P;D	0.54964	0.815;0.969	B;P	0.52909	0.209;0.713	T	0.09596	-1.0667	10	0.87932	D	0	.	7.519	0.27616	0.0:0.8077:0.0:0.1923	.	781;808	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	L	586;467;440;786;808;781;467	ENSP00000432762:R586L;ENSP00000366121:R467L;ENSP00000431591:R440L;ENSP00000433942:R786L;ENSP00000403323:R808L;ENSP00000409330:R781L;ENSP00000408235:R467L	ENSP00000366121:R467L	R	-	2	0	ARHGAP27	40828962	0.745000	0.28261	0.081000	0.20488	0.010000	0.07245	1.887000	0.39698	1.237000	0.43756	0.643000	0.83706	CGT		0.692	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		10	13	1	0	0.00621372	1	0.00627814	10	13				
PCDH10	57575	broad.mit.edu	37	4	134073201	134073201	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:134073201G>A	ENST00000264360.5	+	1	2732	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	636	Cadherin 6. {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(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGGCGCACCGGGGAGCTGCG	0.682																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1906-1908)Ggg>Agg		protocadherin 10							31.0	36.0	34.0					4																	134073201		2182	4280	6462	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073201G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1906G>A	4.37:g.134073201G>A	ENSP00000264360:p.Gly636Arg						p.G636R	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2732	+			636			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1906G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400309	0.83120	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.56941	0.43	4.29	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.000000	0.44285	D	0.000471	T	0.82167	0.4978	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89325	0.3643	10	0.87932	D	0	.	16.5313	0.84361	0.0:0.0:1.0:0.0	.	636;636	Q9P2E7;Q96SF0	PCD10_HUMAN;.	R	636	ENSP00000264360:G636R	ENSP00000264360:G636R	G	+	1	0	PCDH10	134292651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.575000	0.82447	2.207000	0.71202	0.655000	0.94253	GGG		0.682	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		43	67	0	0	0	1	0	43	67				
OPRD1	4985	broad.mit.edu	37	1	29189255	29189255	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:29189255C>T	ENST00000234961.2	+	3	821	c.579C>T	c.(577-579)gaC>gaT	p.D193D		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	193					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GCGGCCCAGACGGGGCAGTGG	0.637																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e3-1		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						78.0	61.0	67.0					1																	29189255		2203	4300	6503	SO:0001630	splice_region_variant	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189255C>T	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.578-1C>T	1.37:g.29189255C>T							p.D193_splice	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	821	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	193					B5B0B8	Splice_Site	SNP	ENST00000234961.2	37	c.577_splice	CCDS329.1																																																																																				0.637	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911	Silent	20	23	0	0	0	1	0	20	23				
OGFOD3	79701	broad.mit.edu	37	17	80356186	80356186	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:80356186C>T	ENST00000313056.5	-	8	860	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	RP13-20L14.4_ENST00000579188.1_RNA|OGFOD3_ENST00000329197.5_Missense_Mutation_p.G237S	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	237	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										TCGAAGGAGCCGTAGGTCACC	0.572																																						ENST00000313056.5																			0											c.(709-711)Ggc>Agc		2-oxoglutarate and iron-dependent oxygenase domain containing 3							39.0	36.0	37.0					17																	80356186		2203	4300	6503	SO:0001583	missense	79701							g.chr17:80356186C>T	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.709G>A	17.37:g.80356186C>T	ENSP00000320116:p.Gly237Ser					OGFOD3_ENST00000329197.5_Missense_Mutation_p.G237S	p.G237S	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3					8	860	-								C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	c.709G>A	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716166	0.89205	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.58210	0.35;1.48	4.42	4.42	0.53409	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	L	0.42581	1.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	T	0.55952	-0.8059	10	0.15066	T	0.55	-33.6714	15.7584	0.78054	0.0:1.0:0.0:0.0	.	237;237	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	S	237	ENSP00000320116:G237S;ENSP00000330075:G237S	ENSP00000320116:G237S	G	-	1	0	C17orf101	77949475	1.000000	0.71417	0.972000	0.41901	0.971000	0.66376	5.165000	0.64959	2.247000	0.74100	0.491000	0.48974	GGC		0.572	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		15	31	0	0	0	1	0	15	31				
KTI12	112970	broad.mit.edu	37	1	52498467	52498467	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:52498467G>A	ENST00000371614.1	-	1	1021	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	323							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						ATAAACTGGCGACGAAGGCGA	0.537																																						ENST00000371614.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(967-969)Cgc>Tgc		KTI12 homolog, chromatin associated (S. cerevisiae)							87.0	87.0	87.0					1																	52498467		2203	4300	6503	SO:0001583	missense	112970						ATP binding	g.chr1:52498467G>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.967C>T	1.37:g.52498467G>A	ENSP00000360676:p.Arg323Cys					TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000472624.1_Intron	p.R323C	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN			1	1021	-			323						Missense_Mutation	SNP	ENST00000371614.1	37	c.967C>T	CCDS562.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418157	0.83449	.	.	ENSG00000198841	ENST00000371614	T	0.46063	0.88	4.64	4.64	0.57946	.	0.084062	0.49305	U	0.000146	T	0.69691	0.3139	M	0.91717	3.235	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.76639	-0.2885	10	0.87932	D	0	.	12.3544	0.55167	0.0:0.0:0.8196:0.1804	.	323	Q96EK9	KTI12_HUMAN	C	323	ENSP00000360676:R323C	ENSP00000360676:R323C	R	-	1	0	KTI12	52271055	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	2.433000	0.44793	2.396000	0.81511	0.557000	0.71058	CGC		0.537	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		63	61	0	0	0	1	0	63	61				
LAMA3	3909	broad.mit.edu	37	18	21484616	21484616	+	Silent	SNP	C	C	T	rs561294952		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:21484616C>T	ENST00000313654.9	+	51	6814	c.6573C>T	c.(6571-6573)gaC>gaT	p.D2191D	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Silent_p.D582D|LAMA3_ENST00000587184.1_Silent_p.D526D|LAMA3_ENST00000399516.3_Silent_p.D2135D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2191	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CGGCCGAGGACGCAGCCAACA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		14623	0.0		0.001	False		,,,				2504	0.0					ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(6571-6573)gaC>gaT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						42.0	38.0	39.0					18																	21484616		2203	4299	6502	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21484616C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6573C>T	18.37:g.21484616C>T						LAMA3_ENST00000269217.6_Silent_p.D582D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Silent_p.D2135D|LAMA3_ENST00000587184.1_Silent_p.D526D	p.D2191D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			51	6814	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2191			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.6573C>T	CCDS42419.1																																																																																				0.582	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		14	17	0	0	0	1	0	14	17				
BRWD1	54014	broad.mit.edu	37	21	40574467	40574467	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:40574467G>T	ENST00000333229.2	-	38	4696	c.4369C>A	c.(4369-4371)Ctc>Atc	p.L1457I	BRWD1_ENST00000380800.3_Missense_Mutation_p.L1457I|BRWD1_ENST00000342449.3_Missense_Mutation_p.L1457I	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1457					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCGGCTTGAGGTTTCTGGCC	0.358																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4369-4371)Ctc>Atc		bromodomain and WD repeat domain containing 1							48.0	45.0	46.0					21																	40574467		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40574467G>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4369C>A	21.37:g.40574467G>T	ENSP00000330753:p.Leu1457Ile					BRWD1_ENST00000333229.2_Missense_Mutation_p.L1457I|BRWD1_ENST00000380800.3_Missense_Mutation_p.L1457I	p.L1457I	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			38	4447	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1457					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4369C>A	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.067|4.067	0.010240|0.010240	0.07912|0.07912	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.55234|.	0.53;0.56;0.63|.	5.27|5.27	-2.98|-2.98	0.05513|0.05513	.|.	1.667930|.	0.03055|.	N|.	0.155132|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.01482|0.01482	-0.84|-0.84	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B|.	0.06786|.	0.001;0.0;0.0|.	B;B;B|.	0.09377|.	0.004;0.001;0.0|.	T|T	0.35425|0.35425	-0.9789|-0.9789	10|5	0.21540|.	T|.	0.41|.	1.7109|1.7109	4.5014|4.5014	0.11865|0.11865	0.1047:0.423:0.3154:0.157|0.1047:0.423:0.3154:0.157	.|.	1457;1457;1457|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	I|H	1457;1457;1457;413|394	ENSP00000330753:L1457I;ENSP00000344333:L1457I;ENSP00000370178:L1457I|.	ENSP00000330753:L1457I|.	L|P	-|-	1|2	0|0	BRWD1|BRWD1	39496337|39496337	0.004000|0.004000	0.15560|0.15560	0.902000|0.902000	0.35471|0.35471	0.423000|0.423000	0.31445|0.31445	-0.677000|-0.677000	0.05215|0.05215	-0.188000|-0.188000	0.10499|0.10499	-0.262000|-0.262000	0.10625|0.10625	CTC|CCT		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		12	19	1	0	3.07112e-06	1	3.17614e-06	12	19				
CRNN	49860	broad.mit.edu	37	1	152384693	152384693	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152384693T>C	ENST00000271835.3	-	2	79	c.17A>G	c.(16-18)cAa>cGa	p.Q6R	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	6					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTAATGTTTTGCAGTAACTG	0.493																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(16-18)cAa>cGa		cornulin							109.0	104.0	106.0					1																	152384693		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152384693T>C	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.17A>G	1.37:g.152384693T>C	ENSP00000271835:p.Gln6Arg					RP1-91G5.3_ENST00000411804.1_RNA	p.Q6R	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	79	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		6					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.17A>G	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.495271	0.00159	.	.	ENSG00000143536	ENST00000271835;ENST00000451038	T	0.08720	3.06	4.78	-2.98	0.05513	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	1.102530	0.07102	N	0.840552	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47861	-0.9084	10	0.02654	T	1	.	10.0967	0.42480	0.0:0.4107:0.0:0.5893	.	6	Q9UBG3	CRNN_HUMAN	R	6	ENSP00000271835:Q6R	ENSP00000271835:Q6R	Q	-	2	0	CRNN	150651317	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-1.275000	0.02817	-0.871000	0.04042	-1.410000	0.01125	CAA		0.493	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		67	87	0	0	0	1	0	67	87				
ZCCHC14	23174	broad.mit.edu	37	16	87445609	87445609	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:87445609A>C	ENST00000268616.4	-	12	2524	c.2307T>G	c.(2305-2307)caT>caG	p.H769Q		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	769	His-rich.						nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGGCTGCtgatggtggtggt	0.667																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2305-2307)caT>caG		zinc finger, CCHC domain containing 14							12.0	16.0	15.0					16																	87445609		2106	4131	6237	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445609A>C	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2307T>G	16.37:g.87445609A>C	ENSP00000268616:p.His769Gln						p.H769Q	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2524	-			769			His-rich.		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.2307T>G	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.451956	0.26074	.	.	ENSG00000140948	ENST00000268616	T	0.18016	2.24	5.26	2.98	0.34508	.	0.087206	0.47852	D	0.000211	T	0.15609	0.0376	N	0.08118	0	0.29361	N	0.864673	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.11567	-1.0582	10	0.10902	T	0.67	-13.1541	6.7506	0.23485	0.6649:0.0:0.3351:0.0	.	769;769	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	Q	769	ENSP00000268616:H769Q	ENSP00000268616:H769Q	H	-	3	2	ZCCHC14	86003110	0.339000	0.24784	1.000000	0.80357	0.973000	0.67179	1.230000	0.32612	0.302000	0.22762	0.533000	0.62120	CAT		0.667	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		25	30	0	0	0	1	0	25	30				
CXXC1	30827	broad.mit.edu	37	18	47811722	47811722	+	Splice_Site	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:47811722C>A	ENST00000285106.6	-	6	1354		c.e6-1		CXXC1_ENST00000412036.2_Splice_Site|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Splice_Site	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGTACGATTCCTGTGCCGGCA	0.672																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.e6-1		CXXC finger protein 1							37.0	39.0	38.0					18																	47811722		2203	4300	6503	SO:0001630	splice_region_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47811722C>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.640-1G>T	18.37:g.47811722C>A						CXXC1_ENST00000412036.2_Splice_Site|CXXC1_ENST00000589940.1_Splice_Site		NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			6	1354	-								B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Splice_Site	SNP	ENST00000285106.6	37		CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906522	0.52333	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9623	0.53015	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CXXC1	46065720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.922000	0.56462	2.100000	0.63781	0.542000	0.68232	.		0.672	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593	Intron	25	42	1	0	2.44723e-14	1	2.62695e-14	25	42				
GAS2L2	246176	broad.mit.edu	37	17	34074161	34074161	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:34074161G>T	ENST00000254466.6	-	5	986	c.959C>A	c.(958-960)cCt>cAt	p.P320H	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P304H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	320					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGTCCACAGGGGGTGGTGG	0.652																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(958-960)cCt>cAt		growth arrest-specific 2 like 2							92.0	99.0	97.0					17																	34074161		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074161G>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.959C>A	17.37:g.34074161G>T	ENSP00000254466:p.Pro320His					GAS2L2_ENST00000587565.1_Missense_Mutation_p.P304H	p.P320H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	986	-		Ovarian(249;0.17)	320					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.959C>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826298	0.50739	.	.	ENSG00000132139	ENST00000254466	T	0.23754	1.89	5.1	5.1	0.69264	.	0.231405	0.35262	N	0.003335	T	0.36082	0.0954	L	0.50333	1.59	0.38893	D	0.957158	D	0.52996	0.957	P	0.51582	0.674	T	0.22243	-1.0222	10	0.87932	D	0	-3.6477	15.3692	0.74548	0.0:0.0:1.0:0.0	.	320	Q8NHY3	GA2L2_HUMAN	H	320	ENSP00000254466:P320H	ENSP00000254466:P320H	P	-	2	0	GAS2L2	31098274	1.000000	0.71417	0.329000	0.25429	0.124000	0.20399	5.728000	0.68531	2.644000	0.89710	0.561000	0.74099	CCT		0.652	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		70	98	1	0	4.79706e-38	1	5.40055e-38	70	98				
MORC1	27136	broad.mit.edu	37	3	108812302	108812302	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:108812302T>C	ENST00000483760.1	-	8	713	c.670A>G	c.(670-672)Atg>Gtg	p.M224V	MORC1_ENST00000232603.5_Missense_Mutation_p.M224V					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GCTCCAGCCATCAGTATATCT	0.423																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(670-672)Atg>Gtg		MORC family CW-type zinc finger 1							159.0	142.0	147.0					3																	108812302		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108812302T>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.670A>G	3.37:g.108812302T>C	ENSP00000417282:p.Met224Val					MORC1_ENST00000483760.1_Missense_Mutation_p.M224V	p.M224V	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			8	752	-			224						Missense_Mutation	SNP	ENST00000483760.1	37	c.670A>G		.	.	.	.	.	.	.	.	.	.	T	4.302	0.055262	0.08291	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.72725	-0.68;-0.68	4.75	1.05	0.20165	ATPase-like, ATP-binding domain (1);	0.695782	0.13420	N	0.389276	T	0.55369	0.1916	L	0.39326	1.205	0.24650	N	0.993528	B;B	0.06786	0.001;0.001	B;B	0.10450	0.001;0.005	T	0.42189	-0.9466	10	0.36615	T	0.2	-5.0E-4	3.9852	0.09513	0.1546:0.1751:0.0:0.6703	.	224;224	E7ERX1;Q86VD1	.;MORC1_HUMAN	V	224	ENSP00000232603:M224V;ENSP00000417282:M224V	ENSP00000232603:M224V	M	-	1	0	MORC1	110294992	1.000000	0.71417	0.458000	0.27068	0.342000	0.28953	1.491000	0.35583	0.033000	0.15463	0.528000	0.53228	ATG		0.423	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			22	31	0	0	0	1	0	22	31				
IRS1	3667	broad.mit.edu	37	2	227661891	227661891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:227661891G>A	ENST00000305123.5	-	1	2584	c.1564C>T	c.(1564-1566)Cga>Tga	p.R522*	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	522					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTTCTCTTTCGGAACCGATTA	0.577											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1564-1566)Cga>Tga		insulin receptor substrate 1							61.0	64.0	63.0					2																	227661891		2203	4300	6503	SO:0001587	stop_gained	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661891G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1564C>T	2.37:g.227661891G>A	ENSP00000304895:p.Arg522*		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R522*	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2584	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	522						Nonsense_Mutation	SNP	ENST00000305123.5	37	c.1564C>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	47	13.300186	0.99733	.	.	ENSG00000169047	ENST00000305123	.	.	.	5.37	4.46	0.54185	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5753	13.005	0.58699	0.0:0.0:0.645:0.355	.	.	.	.	X	522	.	ENSP00000304895:R522X	R	-	1	2	IRS1	227370135	1.000000	0.71417	0.994000	0.49952	0.833000	0.47200	1.927000	0.40094	2.511000	0.84671	0.555000	0.69702	CGA		0.577	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		23	59	0	0	0	1	0	23	59				
NEK5	341676	broad.mit.edu	37	13	52676360	52676360	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:52676360C>T	ENST00000355568.4	-	10	817	c.678G>A	c.(676-678)ccG>ccA	p.P226P		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAGAAAACCCCGGAGATATTG	0.423																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(676-678)ccG>ccA		NIMA-related kinase 5							149.0	170.0	163.0					13																	52676360		2203	4300	6503	SO:0001819	synonymous_variant	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52676360C>T	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.678G>A	13.37:g.52676360C>T							p.P226P	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	10	817	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	226			Protein kinase.		Q5TAP5	Silent	SNP	ENST00000355568.4	37	c.678G>A	CCDS31979.1																																																																																				0.423	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		112	151	0	0	0	1	0	112	151				
MEIOB	254528	broad.mit.edu	37	16	1891830	1891830	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:1891830C>T	ENST00000397344.3	-	11	1219	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000452149.2_Missense_Mutation_p.R342Q|MEIOB_ENST00000412554.2_Missense_Mutation_p.R342Q|MEIOB_ENST00000470044.1_Missense_Mutation_p.R135Q|MEIOB_ENST00000325962.3_Missense_Mutation_p.R342Q	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	342					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										CCATCTATTTCGAACTACTTT	0.313																																						ENST00000412554.2																			0											c.(1024-1026)cGa>cAa		meiosis specific with OB domains							117.0	96.0	103.0					16																	1891830		2198	4300	6498	SO:0001583	missense	254528							g.chr16:1891830C>T	BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.1025G>A	16.37:g.1891830C>T	ENSP00000380504:p.Arg342Gln					MEIOB_ENST00000470044.1_Missense_Mutation_p.R135Q|MEIOB_ENST00000452149.2_Missense_Mutation_p.R342Q|MEIOB_ENST00000325962.3_Missense_Mutation_p.R342Q|MEIOB_ENST00000397344.3_Missense_Mutation_p.R342Q|LA16c-429E7.1_ENST00000570247.1_RNA	p.R342Q	NM_001163560.2	NP_001157032.1					11	1219	-								B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	ENST00000397344.3	37	c.1025G>A	CCDS10449.2	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812382	0.70912	.	.	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.24	4.28	0.50868	.	0.406135	0.26879	N	0.022034	T	0.13586	0.0329	M	0.64997	1.995	0.47621	D	0.999478	P;D	0.56968	0.927;0.978	P;P	0.44860	0.462;0.462	T	0.15435	-1.0437	10	0.12430	T	0.62	.	12.8677	0.57948	0.0:0.9207:0.0:0.0793	.	342;342	C9J0S1;Q8N635	.;CP073_HUMAN	Q	342	ENSP00000390778:R342Q;ENSP00000391033:R342Q;ENSP00000314484:R342Q;ENSP00000380504:R342Q	ENSP00000314484:R342Q	R	-	2	0	C16orf73	1831831	1.000000	0.71417	0.982000	0.44146	0.915000	0.54546	3.509000	0.53386	1.564000	0.49628	0.650000	0.86243	CGA		0.313	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		13	14	0	0	0	1	0	13	14				
GRXCR2	643226	broad.mit.edu	37	5	145252292	145252292	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:145252292C>T	ENST00000377976.1	-	1	239	c.240G>A	c.(238-240)ctG>ctA	p.L80L		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	80						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TCTGAGCAGTCAGCTTAGGGG	0.517																																						ENST00000377976.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(238-240)ctG>ctA		glutaredoxin, cysteine rich 2							85.0	82.0	83.0					5																	145252292		2203	4300	6503	SO:0001819	synonymous_variant	643226							g.chr5:145252292C>T		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.240G>A	5.37:g.145252292C>T							p.L80L	NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN			1	239	-			80						Silent	SNP	ENST00000377976.1	37	c.240G>A	CCDS34263.1																																																																																				0.517	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			42	66	0	0	0	1	0	42	66				
ROGDI	79641	broad.mit.edu	37	16	4848176	4848176	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:4848176C>T	ENST00000322048.7	-	8	919	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	ROGDI_ENST00000586336.1_5'UTR|RP11-127I20.5_ENST00000592465.1_RNA	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	181					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						AGGGCAGGGGCGAACATCCGC	0.652																																						ENST00000322048.7																			0				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						c.(541-543)Gcc>Acc		rogdi homolog (Drosophila)							64.0	48.0	54.0					16																	4848176		2196	4300	6496	SO:0001583	missense	79641					intracellular		g.chr16:4848176C>T	AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.541G>A	16.37:g.4848176C>T	ENSP00000322832:p.Ala181Thr					ROGDI_ENST00000586336.1_5'UTR	p.A181T	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN			8	919	-			181					Q6IA00	Missense_Mutation	SNP	ENST00000322048.7	37	c.541G>A	CCDS10523.1	.	.	.	.	.	.	.	.	.	.	C	1.117	-0.656440	0.03480	.	.	ENSG00000067836	ENST00000322048	T	0.41400	1.0	4.66	4.66	0.58398	.	0.251843	0.37095	N	0.002254	T	0.17831	0.0428	N	0.04508	-0.205	0.33756	D	0.621187	B	0.11235	0.004	B	0.11329	0.006	T	0.23655	-1.0182	10	0.13108	T	0.6	-26.1951	7.2647	0.26224	0.0:0.8079:0.0:0.1921	.	181	Q9GZN7	ROGDI_HUMAN	T	181	ENSP00000322832:A181T	ENSP00000322832:A181T	A	-	1	0	ROGDI	4788177	1.000000	0.71417	0.781000	0.31783	0.303000	0.27691	2.058000	0.41374	2.139000	0.66308	0.491000	0.48974	GCC		0.652	ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251643.3	NM_024589		7	25	0	0	0	1	0	7	25				
FMN2	56776	broad.mit.edu	37	1	240601375	240601375	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:240601375C>T	ENST00000319653.9	+	16	5155	c.4925C>T	c.(4924-4926)aCg>aTg	p.T1642M	FMN2_ENST00000545751.1_Missense_Mutation_p.T238M	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1642	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTGGAGACCACGGCATATTTC	0.378																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4924-4926)aCg>aTg		formin 2							131.0	130.0	131.0					1																	240601375		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240601375C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4925C>T	1.37:g.240601375C>T	ENSP00000318884:p.Thr1642Met					FMN2_ENST00000545751.1_Missense_Mutation_p.T238M	p.T1642M	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		16	5155	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1642			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4925C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	9.172	1.021285	0.19433	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.17213	2.29;2.29	6.0	5.05	0.67936	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.312036	0.26553	N	0.023740	T	0.22205	0.0535	N	0.11870	0.19	0.80722	D	1	P;D;P	0.89917	0.95;1.0;0.546	P;D;B	0.66847	0.751;0.947;0.293	T	0.11060	-1.0603	10	0.29301	T	0.29	.	14.2726	0.66159	0.0:0.9251:0.0:0.0749	.	238;271;1642	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	M	1642;238;269;118	ENSP00000318884:T1642M;ENSP00000437918:T238M	ENSP00000318884:T1642M	T	+	2	0	FMN2	238667998	0.566000	0.26618	0.996000	0.52242	0.110000	0.19582	2.921000	0.48852	1.461000	0.47929	-0.366000	0.07423	ACG		0.378	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		38	77	0	0	0	1	0	38	77				
KIF11	3832	broad.mit.edu	37	10	94408154	94408154	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:94408154C>T	ENST00000260731.3	+	19	2823	c.2733C>T	c.(2731-2733)tgC>tgT	p.C911C		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	911					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCTTAATTGCTTTCTGGAAC	0.299																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2731-2733)tgC>tgT		kinesin family member 11							69.0	68.0	69.0					10																	94408154		2203	4300	6503	SO:0001819	synonymous_variant	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94408154C>T	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2733C>T	10.37:g.94408154C>T							p.C911C	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			19	2823	+			911					A0AV49|B2RMV3|Q15716|Q5VWX0	Silent	SNP	ENST00000260731.3	37	c.2733C>T	CCDS7422.1																																																																																				0.299	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		30	94	0	0	0	1	0	30	94				
PREX2	80243	broad.mit.edu	37	8	69009342	69009342	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:69009342G>A	ENST00000288368.4	+	22	2736	c.2459G>A	c.(2458-2460)gGt>gAt	p.G820D	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	820					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.G820A(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTGGAATATGGTGTCGTGTAT	0.453																																						ENST00000288368.4																			2	Substitution - Missense(2)	p.G820A(2)	kidney(2)	NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2458-2460)gGt>gAt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							186.0	158.0	168.0					8																	69009342		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69009342G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2459G>A	8.37:g.69009342G>A	ENSP00000288368:p.Gly820Asp					PREX2_ENST00000529398.1_3'UTR	p.G820D	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			22	2736	+			820					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2459G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486136	0.84854	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.67171	-0.25	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82476	-0.0438	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	820;820;820	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	D	820	ENSP00000288368:G820D	ENSP00000288368:G820D	G	+	2	0	PREX2	69171896	1.000000	0.71417	0.300000	0.25030	0.388000	0.30384	9.823000	0.99369	2.937000	0.99478	0.650000	0.86243	GGT		0.453	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		121	44	0	0	0	1	0	121	44				
OR51A7	119687	broad.mit.edu	37	11	4928979	4928979	+	Missense_Mutation	SNP	A	A	G	rs551503798		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:4928979A>G	ENST00000359350.4	+	1	380	c.380A>G	c.(379-381)cAc>cGc	p.H127R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGCCATTCACAATCCCTTA	0.403													A|||	1	0.000199681	0.0	0.0	5008	,	,		22237	0.0		0.0	False		,,,				2504	0.001					ENST00000359350.4																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(379-381)cAc>cGc		olfactory receptor, family 51, subfamily A, member 7							100.0	96.0	98.0					11																	4928979		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928979A>G	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.380A>G	11.37:g.4928979A>G	ENSP00000352305:p.His127Arg					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.H127R	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	380	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	127					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.380A>G	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.473250	0.01044	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.19250	2.16	5.02	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	0.131624	0.34676	N	0.003770	T	0.07369	0.0186	N	0.02391	-0.57	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30475	-0.9977	10	0.37606	T	0.19	.	7.7903	0.29116	0.5884:0.0:0.4116:0.0	.	127	Q8NH64	O51A7_HUMAN	R	127;127;116	ENSP00000352305:H127R	ENSP00000352305:H127R	H	+	2	0	OR51A7	4885555	0.000000	0.05858	0.411000	0.26484	0.285000	0.27093	-0.394000	0.07296	0.395000	0.25257	-0.274000	0.10170	CAC		0.403	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		34	44	0	0	0	1	0	34	44				
POLQ	10721	broad.mit.edu	37	3	121190985	121190985	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:121190985T>C	ENST00000264233.5	-	22	6698	c.6570A>G	c.(6568-6570)ttA>ttG	p.L2190L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2190					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTAAAGGATGTAATGCCTTTA	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6568-6570)ttA>ttG	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							54.0	56.0	55.0					3																	121190985		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121190985T>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6570A>G	3.37:g.121190985T>C							p.L2190L	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	22	6698	-			2190					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.6570A>G	CCDS33833.1																																																																																				0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		15	27	0	0	0	1	0	15	27				
GOT1	2805	broad.mit.edu	37	10	101163312	101163312	+	Silent	SNP	G	G	A	rs200430334		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:101163312G>A	ENST00000370508.5	-	7	900	c.873C>T	c.(871-873)atC>atT	p.I291I	GOT1_ENST00000543866.1_Silent_p.I270I	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	291					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	TAATCCGCACGATCTTCTCCA	0.537																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(871-873)atC>atT		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	G		0,4406		0,0,2203	99.0	94.0	96.0		873	-7.0	0.8	10		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GOT1	NM_002079.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		291/414	101163312	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101163312G>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.873C>T	10.37:g.101163312G>A						GOT1_ENST00000543866.1_Silent_p.I270I	p.I291I	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	7	900	-		Ovarian(717;0.028)|Colorectal(252;0.234)	291					B2R6R7|B7Z7E9|Q5VW80	Silent	SNP	ENST00000370508.5	37	c.873C>T	CCDS7479.1																																																																																				0.537	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		93	67	0	0	0	1	0	93	67				
SDAD1P1	157489	broad.mit.edu	37	8	26236877	26236877	+	RNA	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:26236877C>T	ENST00000519902.1	-	0	3071									SDA1 domain containing 1 pseudogene 1																		TAGCATTCTTCTTGGAATGGA	0.343																																						ENST00000519902.1																			0																																																			0							g.chr8:26236877C>T			8p21.2	2010-11-24			ENSG00000228451	ENSG00000228451			31403	pseudogene	pseudogene							Standard	NG_006994		Approved				OTTHUMG00000163945		8.37:g.26236877C>T														0	3071	-									RNA	SNP	ENST00000519902.1	37																																																																																						0.343	SDAD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000376512.1	NG_006994		5	17	0	0	0	1	0	5	17				
PIK3CG	5294	broad.mit.edu	37	7	106508511	106508511	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:106508511C>T	ENST00000359195.3	+	2	815	c.505C>T	c.(505-507)Cac>Tac	p.H169Y	PIK3CG_ENST00000496166.1_Missense_Mutation_p.H169Y|PIK3CG_ENST00000440650.2_Missense_Mutation_p.H169Y	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	169					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGCAACGTGCACGACGATGA	0.677																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(505-507)Cac>Tac		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							31.0	35.0	34.0					7																	106508511		2203	4298	6501	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508511C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.505C>T	7.37:g.106508511C>T	ENSP00000352121:p.His169Tyr					PIK3CG_ENST00000440650.2_Missense_Mutation_p.H169Y|PIK3CG_ENST00000496166.1_Missense_Mutation_p.H169Y	p.H169Y	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	815	+			169					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.505C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624358	0.66901	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70399	-0.48;-0.48;-0.48	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.64997	1.995	0.58432	D	0.999996	P	0.41102	0.738	B	0.32533	0.147	T	0.73607	-0.3929	10	0.59425	D	0.04	-31.2127	19.3967	0.94610	0.0:1.0:0.0:0.0	.	169	P48736	PK3CG_HUMAN	Y	169	ENSP00000392258:H169Y;ENSP00000419260:H169Y;ENSP00000352121:H169Y	ENSP00000352121:H169Y	H	+	1	0	PIK3CG	106295747	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.914000	0.69964	2.651000	0.90000	0.467000	0.42956	CAC		0.677	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			30	18	0	0	0	1	0	30	18				
HIST1H3C	8352	broad.mit.edu	37	6	26045754	26045754	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:26045754C>A	ENST00000540144.1	+	1	116	c.116C>A	c.(115-117)cCt>cAt	p.P39H	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	39					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GTGAAGAAACCTCATCGCTAC	0.637																																						ENST00000540144.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						c.(115-117)cCt>cAt		histone cluster 1, H3c							45.0	48.0	47.0					6																	26045754		2203	4300	6503	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045754C>A	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.116C>A	6.37:g.26045754C>A	ENSP00000439493:p.Pro39His						p.P39H	NM_003531.2	NP_003522.1	P68431	H31_HUMAN			1	116	+			39					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.116C>A	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387290	0.42308	.	.	ENSG00000196532	ENST00000540144	T	0.46819	0.86	4.67	4.67	0.58626	.	.	.	.	.	T	0.59770	0.2218	.	.	.	0.46203	D	0.998926	.	.	.	.	.	.	T	0.65249	-0.6214	6	0.87932	D	0	.	17.4292	0.87534	0.0:1.0:0.0:0.0	.	.	.	.	H	39	ENSP00000439493:P39H	ENSP00000439493:P39H	P	+	2	0	HIST1H3C	26153733	1.000000	0.71417	0.971000	0.41717	0.020000	0.10135	5.969000	0.70422	2.529000	0.85273	0.591000	0.81541	CCT		0.637	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		80	50	1	0	5.04879e-28	1	5.6549e-28	80	50				
MRPS2	51116	broad.mit.edu	37	9	138392884	138392884	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:138392884G>A	ENST00000371785.1	+	3	293	c.84G>A	c.(82-84)aaG>aaA	p.K28K	MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Silent_p.K28K|C9orf116_ENST00000429260.2_5'Flank|C9orf116_ENST00000371791.1_Intron|C9orf116_ENST00000371789.3_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	28					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TTCTCGGGAAGGCGACCCCCC	0.711																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(82-84)aaG>aaA		mitochondrial ribosomal protein S2							11.0	14.0	13.0					9																	138392884		2171	4254	6425	SO:0001819	synonymous_variant	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138392884G>A	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.84G>A	9.37:g.138392884G>A						MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Silent_p.K28K|C9orf116_ENST00000371791.1_Intron	p.K28K			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	3	293	+			28					Q5T899|Q9BSQ4	Silent	SNP	ENST00000371785.1	37	c.84G>A	CCDS6990.1																																																																																				0.711	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			17	25	0	0	0	1	0	17	25				
UTP20	27340	broad.mit.edu	37	12	101768587	101768587	+	Splice_Site	SNP	G	G	A	rs573079112		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:101768587G>A	ENST00000261637.4	+	55	7307	c.7133G>A	c.(7132-7134)cGc>cAc	p.R2378H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2378					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTTTGGTAGCGCTTAAATAGA	0.398																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.e55-1		UTP20, small subunit (SSU) processome component, homolog (yeast)							193.0	193.0	193.0					12																	101768587		2203	4300	6503	SO:0001630	splice_region_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101768587G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7132-1G>A	12.37:g.101768587G>A							p.R2378_splice	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			55	7307	+			2378					Q9H3H4	Splice_Site	SNP	ENST00000261637.4	37	c.7131_splice	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690508	0.48097	.	.	ENSG00000120800	ENST00000261637	T	0.66460	-0.21	6.04	4.24	0.50183	Armadillo-type fold (1);	0.408604	0.31612	N	0.007358	T	0.51907	0.1702	L	0.29908	0.895	0.09310	N	0.999992	B	0.06786	0.001	B	0.04013	0.001	T	0.43972	-0.9358	10	0.44086	T	0.13	-0.014	9.2178	0.37358	0.2227:0.0:0.7773:0.0	.	2378	O75691	UTP20_HUMAN	H	2378	ENSP00000261637:R2378H	ENSP00000261637:R2378H	R	+	2	0	UTP20	100292718	0.903000	0.30736	0.069000	0.20011	0.808000	0.45660	1.473000	0.35387	0.901000	0.36495	0.563000	0.77884	CGC		0.398	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	Missense_Mutation	44	99	0	0	0	1	0	44	99				
CPSF2	53981	broad.mit.edu	37	14	92604647	92604647	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:92604647C>T	ENST00000298875.4	+	7	902	c.617C>T	c.(616-618)aCa>aTa	p.T206I		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	206					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TTCAATGCTACATATGTACAG	0.333																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(616-618)aCa>aTa		cleavage and polyadenylation specific factor 2, 100kDa							103.0	106.0	105.0					14																	92604647		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92604647C>T	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.617C>T	14.37:g.92604647C>T	ENSP00000298875:p.Thr206Ile						p.T206I	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	7	902	+		all_cancers(154;0.0766)	206					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.617C>T	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495653	0.64186	.	.	ENSG00000165934	ENST00000298875	T	0.48522	0.81	5.74	5.74	0.90152	Beta-lactamase-like (1);	0.047580	0.85682	D	0.000000	T	0.46927	0.1418	L	0.48642	1.525	0.80722	D	1	B	0.14438	0.01	B	0.23275	0.045	T	0.27606	-1.0069	10	0.33940	T	0.23	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	206	Q9P2I0	CPSF2_HUMAN	I	206	ENSP00000298875:T206I	ENSP00000298875:T206I	T	+	2	0	CPSF2	91674400	1.000000	0.71417	0.980000	0.43619	0.980000	0.70556	5.897000	0.69831	2.683000	0.91414	0.655000	0.94253	ACA		0.333	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			4	63	0	0	0	1	0	4	63				
EIF4G2	1982	broad.mit.edu	37	11	10825100	10825100	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:10825100A>G	ENST00000526148.1	-	9	1250	c.740T>C	c.(739-741)aTg>aCg	p.M247T	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.M247T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.M247T|EIF4G2_ENST00000396525.2_Missense_Mutation_p.M247T|EIF4G2_ENST00000525995.1_5'Flank|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATCCTCTCCCATATCTTTGAG	0.423																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(739-741)aTg>aCg		eukaryotic translation initiation factor 4 gamma, 2							154.0	141.0	145.0					11																	10825100		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10825100A>G	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.740T>C	11.37:g.10825100A>G	ENSP00000433664:p.Met247Thr					EIF4G2_ENST00000396525.2_Missense_Mutation_p.M247T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.M247T|EIF4G2_ENST00000525681.1_Missense_Mutation_p.M247T	p.M247T	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	9	1250	-			247			MIF4G.			Missense_Mutation	SNP	ENST00000526148.1	37	c.740T>C	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123211	0.56613	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	6.07	6.07	0.98685	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	N	0.08118	0	0.53688	D	0.999973	B;B;B	0.23735	0.074;0.09;0.09	B;B;B	0.26693	0.043;0.072;0.072	T	0.26430	-1.0103	9	0.20046	T	0.44	-8.5202	16.6406	0.85098	1.0:0.0:0.0:0.0	.	247;247;320	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	T	247;247;247;247;320;247;247	ENSP00000433664:M247T;ENSP00000433371:M247T;ENSP00000340281:M247T;ENSP00000379778:M247T;ENSP00000431583:M247T;ENSP00000433121:M247T	ENSP00000340281:M247T	M	-	2	0	EIF4G2	10781676	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.268000	0.95675	2.326000	0.78906	0.533000	0.62120	ATG		0.423	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		29	51	0	0	0	1	0	29	51				
NAA10	8260	broad.mit.edu	37	X	153196294	153196294	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153196294A>T	ENST00000464845.1	-	7	711	c.393T>A	c.(391-393)agT>agA	p.S131R	NAA10_ENST00000393712.3_Missense_Mutation_p.S131R|NAA10_ENST00000370009.1_Missense_Mutation_p.S116R|NAA10_ENST00000393710.3_5'Flank|NAA10_ENST00000370015.4_Missense_Mutation_p.S131R	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	131	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GCTCCACTTCACTGATCCTGG	0.587																																					Ovarian(94;1099 1433 38814 45882 51063)	ENST00000464845.1																			0				breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						c.(391-393)agT>agA		N(alpha)-acetyltransferase 10, NatA catalytic subunit							141.0	120.0	127.0					X																	153196294		2203	4300	6503	SO:0001583	missense	8260				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chrX:153196294A>T	BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	18704	protein-coding gene	gene with protein product		300013	"""ARD1 homolog, N-acetyltransferase (S. cerevisiae)"", ""ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"""	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.393T>A	X.37:g.153196294A>T	ENSP00000417763:p.Ser131Arg					NAA10_ENST00000370009.1_Missense_Mutation_p.S116R|NAA10_ENST00000393712.3_Missense_Mutation_p.S131R|NAA10_ENST00000370015.4_Missense_Mutation_p.S131R	p.S131R	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN			7	711	-			131			N-acetyltransferase.		A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	c.393T>A	CCDS14737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.18|11.18	1.563372|1.563372	0.27915|0.27915	.|.	.|.	ENSG00000102030|ENSG00000102030	ENST00000464845;ENST00000370015;ENST00000393712;ENST00000370009;ENST00000370011;ENST00000432089|ENST00000545734	T;T;T;T;T;T|.	0.54675|.	1.59;1.59;1.59;0.56;0.56;1.59|.	4.41|4.41	-2.93|-2.93	0.05598|0.05598	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);|.	0.045298|.	0.85682|.	N|.	0.000000|.	T|T	0.39655|0.39655	0.1086|0.1086	L|L	0.31065|0.31065	0.9|0.9	0.54753|0.54753	D|D	0.999985|0.999985	B;B|.	0.15719|.	0.014;0.002|.	B;B|.	0.17098|.	0.017;0.017|.	T|T	0.36986|0.36986	-0.9725|-0.9725	10|6	0.32370|0.02654	T|T	0.25|1	-23.6553|-23.6553	11.4164|11.4164	0.49954|0.49954	0.5971:0.0:0.4029:0.0|0.5971:0.0:0.4029:0.0	.|.	116;131|.	A6NM98;P41227|.	.;NAA10_HUMAN|.	R|E	131;131;131;116;110;125|116	ENSP00000417763:S131R;ENSP00000359032:S131R;ENSP00000377315:S131R;ENSP00000359026:S116R;ENSP00000359028:S110R;ENSP00000413668:S125R|.	ENSP00000359026:S116R|ENSP00000438074:V116E	S|V	-|-	3|2	2|0	NAA10|NAA10	152849488|152849488	0.506000|0.506000	0.26139|0.26139	0.967000|0.967000	0.41034|0.41034	0.960000|0.960000	0.62799|0.62799	-0.177000|-0.177000	0.09796|0.09796	-0.675000|-0.675000	0.05246|0.05246	-0.469000|-0.469000	0.05056|0.05056	AGT|GTG		0.587	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		64	98	0	0	0	1	0	64	98				
GEM	2669	broad.mit.edu	37	8	95264399	95264399	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:95264399A>G	ENST00000297596.2	-	4	725	c.461T>C	c.(460-462)cTg>cCg	p.L154P	GEM_ENST00000396194.2_Missense_Mutation_p.L154P	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	154					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTAGACAATCAGGTATGCGTC	0.517																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	ENST00000297596.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(460-462)cTg>cCg		GTP binding protein overexpressed in skeletal muscle							89.0	79.0	82.0					8																	95264399		2203	4300	6503	SO:0001583	missense	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95264399A>G		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.461T>C	8.37:g.95264399A>G	ENSP00000297596:p.Leu154Pro					GEM_ENST00000396194.2_Missense_Mutation_p.L154P	p.L154P	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	725	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	154					B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	c.461T>C	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.991091	0.93106	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	D;D	0.83837	-1.77;-1.77	6.17	6.17	0.99709	Small GTP-binding protein domain (1);	0.073510	0.56097	D	0.000034	D	0.93032	0.7782	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.94251	0.7493	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	154	P55040	GEM_HUMAN	P	154	ENSP00000379497:L154P;ENSP00000297596:L154P	ENSP00000297596:L154P	L	-	2	0	GEM	95333575	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	CTG		0.517	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		25	137	0	0	0	1	0	25	137				
E2F8	79733	broad.mit.edu	37	11	19255993	19255993	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:19255993G>A	ENST00000527884.1	-	6	1074	c.842C>T	c.(841-843)aCg>aTg	p.T281M	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.T281M	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	281					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TATCTGAGGCGTTGACACCAA	0.403																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(841-843)aCg>aTg		E2F transcription factor 8							162.0	163.0	162.0					11																	19255993		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19255993G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.842C>T	11.37:g.19255993G>A	ENSP00000434199:p.Thr281Met					RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.T281M	p.T281M	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			6	1074	-			281					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.842C>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080150	0.55753	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	T;T	0.18502	2.21;2.21	5.37	5.37	0.77165	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.220215	0.46442	D	0.000297	T	0.28333	0.0700	L	0.27053	0.805	0.09310	N	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.06427	-1.0827	10	0.66056	D	0.02	-3.4023	13.6524	0.62318	0.0:0.0:0.8452:0.1547	.	281	A0AVK6	E2F8_HUMAN	M	281	ENSP00000434199:T281M;ENSP00000250024:T281M	ENSP00000250024:T281M	T	-	2	0	E2F8	19212569	0.995000	0.38212	0.998000	0.56505	0.993000	0.82548	4.788000	0.62439	2.520000	0.84964	0.655000	0.94253	ACG		0.403	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		82	105	0	0	0	1	0	82	105				
MACROD1	28992	broad.mit.edu	37	11	63884829	63884829	+	Intron	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:63884829C>T	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.R364W	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TGAGAAGGTCCGGGGCATGGC	0.657																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(1090-1092)Cgg>Tgg		fibronectin leucine rich transmembrane protein 1							53.0	52.0	52.0					11																	63884829		2200	4296	6496	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884829C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33881G>A	11.37:g.63884829C>T						MACROD1_ENST00000255681.6_Intron	p.R364W	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	2133	+			336					Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.1090C>T	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866842	0.51588	.	.	ENSG00000126500	ENST00000246841	T	0.02656	4.21	5.4	4.48	0.54585	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.15998	0.0385	M	0.88704	2.975	0.51482	D	0.999925	D	0.89917	1.0	D	0.87578	0.998	T	0.00036	-1.2253	10	0.87932	D	0	-29.1867	9.0411	0.36319	0.1459:0.7742:0.0:0.0798	.	336	Q9NZU1	FLRT1_HUMAN	W	364	ENSP00000246841:R364W	ENSP00000246841:R364W	R	+	1	2	FLRT1	63641405	0.438000	0.25602	1.000000	0.80357	0.829000	0.46940	0.975000	0.29449	2.512000	0.84698	0.650000	0.86243	CGG		0.657	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		43	53	0	0	0	1	0	43	53				
PCDHB16	57717	broad.mit.edu	37	5	140564303	140564303	+	Silent	SNP	C	C	T	rs144790293	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140564303C>T	ENST00000361016.2	+	1	3324	c.2169C>T	c.(2167-2169)ggC>ggT	p.G723G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	723					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGGTGGGCCGCTGCTCGA	0.662																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(2167-2169)ggC>ggT				C		2,4404		0,2,2201	68.0	78.0	75.0		2169	-7.8	0.0	5	dbSNP_134	75	1,8599		0,1,4299	no	coding-synonymous	PCDHB16	NM_020957.1		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		723/777	140564303	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564303C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2169C>T	5.37:g.140564303C>T							p.G723G	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3324	+			723					B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.2169C>T	CCDS4251.1																																																																																				0.662	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		152	145	0	0	0	1	0	152	145				
NOXO1	124056	broad.mit.edu	37	16	2030447	2030447	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2030447G>A	ENST00000397280.4	-	4	340	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000354249.4_Missense_Mutation_p.R107C|NOXO1_ENST00000356120.4_Missense_Mutation_p.R108C|NOXO1_ENST00000566005.1_Missense_Mutation_p.R112C|TBL3_ENST00000568546.1_3'UTR			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	113	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	CGTGCCACGCGCTCTGCAGTC	0.687																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)	ENST00000354249.4																			0				lung(2)	2						c.(319-321)Cgc>Tgc		NADPH oxidase organizer 1							21.0	29.0	26.0					16																	2030447		2193	4289	6482	SO:0001583	missense	0				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity	g.chr16:2030447G>A	AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.337C>T	16.37:g.2030447G>A	ENSP00000380450:p.Arg113Cys					NOXO1_ENST00000566005.1_Missense_Mutation_p.R112C|NOXO1_ENST00000397280.4_Missense_Mutation_p.R113C|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000356120.4_Missense_Mutation_p.R108C	p.R107C	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN			4	688	-			113			PX.		Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	ENST00000397280.4	37	c.319C>T	CCDS42101.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704770	0.68615	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.69175	-0.38;1.1;1.1	5.12	1.46	0.22682	Phox homologous domain (4);	1.753860	0.02721	N	0.114008	T	0.79070	0.4384	M	0.63843	1.955	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.60886	0.81;0.81;0.81;0.88	T	0.62039	-0.6938	10	0.72032	D	0.01	-0.1472	11.6532	0.51301	0.0:0.0:0.3249:0.6751	.	112;107;108;113	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	C	107;108;113	ENSP00000346195:R107C;ENSP00000348435:R108C;ENSP00000380450:R113C	ENSP00000346195:R107C	R	-	1	0	NOXO1	1970448	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.408000	0.21065	0.440000	0.26502	0.561000	0.74099	CGC		0.687	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1			34	52	0	0	0	1	0	34	52				
CNTNAP2	26047	broad.mit.edu	37	7	147914501	147914501	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:147914501G>A	ENST00000361727.3	+	19	3648	c.3132G>A	c.(3130-3132)ccG>ccA	p.P1044P	CNTNAP2_ENST00000538075.1_Silent_p.P103P	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1044					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.P1044P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCCCACCCGGACCTGGCAC	0.562										HNSCC(39;0.1)																												ENST00000361727.3																			1	Substitution - coding silent(1)	p.P1044P(1)	endometrium(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(3130-3132)ccG>ccA		contactin associated protein-like 2							116.0	111.0	113.0					7																	147914501		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914501G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3132G>A	7.37:g.147914501G>A		HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_Silent_p.P103P	p.P1044P	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3648	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1044					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.3132G>A	CCDS5889.1																																																																																				0.562	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			51	66	0	0	0	1	0	51	66				
CCDC108	255101	broad.mit.edu	37	2	219895832	219895832	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:219895832A>G	ENST00000341552.5	-	8	1094	c.1011T>C	c.(1009-1011)gcT>gcC	p.A337A	CCDC108_ENST00000410037.1_Silent_p.A272A|CCDC108_ENST00000453220.1_Silent_p.A337A|CCDC108_ENST00000441968.1_Silent_p.A337A|CCDC108_ENST00000409865.3_Silent_p.A326A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	337						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCACCCACAGCCTGCAGCT	0.677																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1009-1011)gcT>gcC		coiled-coil domain containing 108							22.0	22.0	22.0					2																	219895832		2195	4297	6492	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219895832A>G	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1011T>C	2.37:g.219895832A>G						CCDC108_ENST00000453220.1_Silent_p.A337A|CCDC108_ENST00000410037.1_Silent_p.A272A|CCDC108_ENST00000409865.3_Silent_p.A326A|CCDC108_ENST00000441968.1_Silent_p.A337A	p.A337A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1094	-		Renal(207;0.0915)	337					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.1011T>C	CCDS2430.2																																																																																				0.677	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		4	6	0	0	0	1	0	4	6				
SAFB	6294	broad.mit.edu	37	19	5661692	5661692	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:5661692G>A	ENST00000292123.5	+	15	2133	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	SAFB_ENST00000592224.1_Missense_Mutation_p.V675M|SAFB_ENST00000588852.1_Missense_Mutation_p.V676M|SAFB_ENST00000538656.1_Missense_Mutation_p.V518M|SAFB_ENST00000454510.1_Missense_Mutation_p.V607M|SAFB_ENST00000433404.1_Missense_Mutation_p.V506M	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	676	Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		ACGCATGCACGTGGAGCACGA	0.711																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(2026-2028)Gtg>Atg		scaffold attachment factor B							15.0	18.0	17.0					19																	5661692		2196	4288	6484	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5661692G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2026G>A	19.37:g.5661692G>A	ENSP00000292123:p.Val676Met					SAFB_ENST00000538656.1_Missense_Mutation_p.V518M|SAFB_ENST00000454510.1_Missense_Mutation_p.V607M|SAFB_ENST00000433404.1_Missense_Mutation_p.V506M|SAFB_ENST00000592224.1_Missense_Mutation_p.V675M|SAFB_ENST00000588852.1_Missense_Mutation_p.V676M	p.V676M	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	15	2133	+			676			Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2026G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085553	0.55861	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.10668	2.85;3.01;2.85;2.85	5.38	2.84	0.33178	.	0.165534	0.29822	N	0.011108	T	0.17323	0.0416	M	0.66939	2.045	0.47819	D	0.999528	D;D;D;D;D;D;D	0.63880	0.987;0.987;0.993;0.987;0.987;0.987;0.987	P;P;P;P;P;P;P	0.54706	0.579;0.579;0.759;0.579;0.579;0.579;0.579	T	0.02983	-1.1086	10	0.66056	D	0.02	-24.0568	2.0583	0.03586	0.2594:0.0:0.4538:0.2868	.	475;518;607;675;676;676;675	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	M	607;571;506;676;518	ENSP00000415895:V607M;ENSP00000404545:V506M;ENSP00000292123:V676M;ENSP00000438880:V518M	ENSP00000292123:V676M	V	+	1	0	SAFB	5612692	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.146000	0.58072	1.374000	0.46228	0.455000	0.32223	GTG		0.711	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			12	19	0	0	0	1	0	12	19				
TECPR1	25851	broad.mit.edu	37	7	97846804	97846804	+	Silent	SNP	G	G	A	rs201224382		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:97846804G>A	ENST00000447648.2	-	26	3695	c.3396C>T	c.(3394-3396)gaC>gaT	p.D1132D	TECPR1_ENST00000379795.3_Silent_p.D1134D			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1132					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGAGATATGGTCCCAGCCTC	0.682																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(3394-3396)gaC>gaT		tectonin beta-propeller repeat containing 1							15.0	19.0	17.0					7																	97846804		1925	4120	6045	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97846804G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3396C>T	7.37:g.97846804G>A						TECPR1_ENST00000379795.3_Silent_p.D1134D	p.D1132D			Q7Z6L1	TCPR1_HUMAN			26	3695	-			1132					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.3396C>T	CCDS47648.1																																																																																				0.682	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		11	11	0	0	0	1	0	11	11				
SACS	26278	broad.mit.edu	37	13	23914022	23914022	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:23914022A>G	ENST00000382292.3	-	9	4266	c.3993T>C	c.(3991-3993)caT>caC	p.H1331H	SACS_ENST00000382298.3_Silent_p.H1331H|SACS_ENST00000402364.1_Silent_p.H581H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1331					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCATGGAAATATGATCTGATG	0.338																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3991-3993)caT>caC		spastic ataxia of Charlevoix-Saguenay (sacsin)							89.0	82.0	84.0					13																	23914022		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914022A>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3993T>C	13.37:g.23914022A>G						SACS_ENST00000382292.3_Silent_p.H1331H|SACS_ENST00000402364.1_Silent_p.H581H	p.H1331H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	4581	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1331					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.3993T>C	CCDS9300.2																																																																																				0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		18	19	0	0	0	1	0	18	19				
HOXD1	3231	broad.mit.edu	37	2	177053603	177053603	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:177053603C>G	ENST00000331462.4	+	1	297	c.74C>G	c.(73-75)cCc>cGc	p.P25R	HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000425005.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	25					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		AGCTTGGCACCCAAGTTCTGC	0.706																																						ENST00000331462.4																			0				kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10						c.(73-75)cCc>cGc		homeobox D1							10.0	9.0	9.0					2																	177053603		2061	4043	6104	SO:0001583	missense	3231					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177053603C>G		CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"""Homeoboxes / ANTP class : HOXL subclass"""	5132	protein-coding gene	gene with protein product		142987	"""homeo box D1"""	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.74C>G	2.37:g.177053603C>G	ENSP00000328598:p.Pro25Arg					HOXD-AS1_ENST00000413969.1_RNA	p.P25R	NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)	1	297	+			25					B2RAB4	Missense_Mutation	SNP	ENST00000331462.4	37	c.74C>G	CCDS2271.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297802	0.60086	.	.	ENSG00000128645	ENST00000331462	D	0.92199	-2.99	4.22	4.22	0.49857	.	0.171393	0.28119	N	0.016532	D	0.89570	0.6753	L	0.27053	0.805	0.48395	D	0.999642	P;P	0.50443	0.935;0.935	P;P	0.48114	0.567;0.567	D	0.91326	0.5086	10	0.72032	D	0.01	.	16.1953	0.82023	0.0:1.0:0.0:0.0	.	25;25	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	R	25	ENSP00000328598:P25R	ENSP00000328598:P25R	P	+	2	0	HOXD1	176761849	0.995000	0.38212	0.953000	0.39169	0.191000	0.23601	4.007000	0.57093	1.880000	0.54463	0.491000	0.48974	CCC		0.706	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2			10	15	0	0	0	1	0	10	15				
GP1BA	2811	broad.mit.edu	37	17	4836674	4836674	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4836674G>A	ENST00000329125.5	+	2	850	c.775G>A	c.(775-777)Gtg>Atg	p.V259M		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	259	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GACCTCTAACGTGGCCAGTGT	0.502																																						ENST00000329125.5																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(775-777)Gtg>Atg		glycoprotein Ib (platelet), alpha polypeptide							117.0	111.0	113.0					17																	4836674		2096	4224	6320	SO:0001583	missense	2811							g.chr17:4836674G>A		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.775G>A	17.37:g.4836674G>A	ENSP00000329380:p.Val259Met						p.V259M	NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN			2	850	+			259					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Missense_Mutation	SNP	ENST00000329125.5	37	c.775G>A	CCDS54068.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138113	0.56936	.	.	ENSG00000185245	ENST00000329125;ENST00000438881	T	0.53206	0.63	4.81	3.82	0.43975	.	0.246709	0.21152	N	0.079319	T	0.62073	0.2398	M	0.62016	1.91	0.09310	N	0.999997	D	0.76494	0.999	D	0.69479	0.964	T	0.53585	-0.8418	10	0.51188	T	0.08	-11.4763	11.1737	0.48586	0.0:0.1859:0.8141:0.0	.	259	A5CKE2	.	M	259	ENSP00000329380:V259M	ENSP00000329380:V259M	V	+	1	0	GP1BA	4777454	0.999000	0.42202	0.010000	0.14722	0.093000	0.18481	3.446000	0.52928	0.979000	0.38497	0.313000	0.20887	GTG		0.502	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			47	62	0	0	0	1	0	47	62				
AIM1	202	broad.mit.edu	37	6	107008716	107008716	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:107008716A>C	ENST00000369066.3	+	17	5157	c.4670A>C	c.(4669-4671)cAg>cCg	p.Q1557P	AIM1_ENST00000535438.1_Missense_Mutation_p.Q376P	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAGGGCGACAGTTCCTATTG	0.403																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4669-4671)cAg>cCg		absent in melanoma 1							148.0	143.0	144.0					6																	107008716		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:107008716A>C	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4670A>C	6.37:g.107008716A>C	ENSP00000358062:p.Gln1557Pro					AIM1_ENST00000535438.1_Missense_Mutation_p.Q376P	p.Q1557P	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	17	5157	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1557			Beta/gamma crystallin 'Greek key' 12.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.4670A>C	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.531639	0.85706	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	T;T	0.80566	-1.39;-1.39	6.06	6.06	0.98353	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.91821	0.7412	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93905	0.7192	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	376;1557	B4DU04;Q9Y4K1	.;AIM1_HUMAN	P	1557;376	ENSP00000358062:Q1557P;ENSP00000439183:Q376P	ENSP00000358062:Q1557P	Q	+	2	0	AIM1	107115409	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.695000	0.84257	2.324000	0.78689	0.533000	0.62120	CAG		0.403	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			87	57	0	0	0	1	0	87	57				
ZIC4	84107	broad.mit.edu	37	3	147113791	147113791	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:147113791G>A	ENST00000383075.3	-	3	1048	c.536C>T	c.(535-537)cCg>cTg	p.P179L	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.P179L|ZIC4_ENST00000473123.1_Missense_Mutation_p.P179L|ZIC4_ENST00000425731.3_Missense_Mutation_p.P217L|ZIC4_ENST00000525172.2_Missense_Mutation_p.P229L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	179						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCCCTGGCGCGGACACTCCTC	0.587																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(535-537)cCg>cTg		Zic family member 4							116.0	128.0	124.0					3																	147113791		2203	4300	6503	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113791G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.536C>T	3.37:g.147113791G>A	ENSP00000372553:p.Pro179Leu					ZIC4_ENST00000473123.1_Missense_Mutation_p.P179L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.P229L|ZIC4_ENST00000425731.3_Missense_Mutation_p.P217L|ZIC4_ENST00000484399.1_Missense_Mutation_p.P179L	p.P179L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	1048	-			179					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.536C>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171762	0.78452	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	5.2	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000337	D	0.86615	0.5975	L	0.41124	1.26	0.80722	D	1	P;P	0.45348	0.466;0.856	B;B	0.42522	0.04;0.39	D	0.86520	0.1815	10	0.72032	D	0.01	.	10.9524	0.47336	0.1513:0.0:0.8487:0.0	.	229;179	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	L	179;217;229;179;179;179	ENSP00000372553:P179L;ENSP00000397695:P217L;ENSP00000435509:P229L;ENSP00000417855:P179L;ENSP00000420775:P179L;ENSP00000420627:P179L	ENSP00000372553:P179L	P	-	2	0	ZIC4	148596481	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.959000	0.63666	1.194000	0.43101	-0.350000	0.07774	CCG		0.587	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			25	190	0	0	0	1	0	25	190				
LGR4	55366	broad.mit.edu	37	11	27406980	27406980	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:27406980T>C	ENST00000379214.4	-	5	880	c.437A>G	c.(436-438)gAg>gGg	p.E146G	LGR4_ENST00000480977.2_Missense_Mutation_p.E98G|LGR4_ENST00000389858.4_Missense_Mutation_p.E122G	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	146					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AAAACTGTCCTCGGGGACTGA	0.473																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(436-438)gAg>gGg		leucine-rich repeat containing G protein-coupled receptor 4							90.0	79.0	83.0					11																	27406980		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27406980T>C	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.437A>G	11.37:g.27406980T>C	ENSP00000368516:p.Glu146Gly					LGR4_ENST00000389858.4_Missense_Mutation_p.E122G|LGR4_ENST00000480977.2_Missense_Mutation_p.E98G	p.E146G	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			5	880	-			146					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.437A>G	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858911	0.91433	.	.	ENSG00000205213	ENST00000379214;ENST00000389858;ENST00000480977	T;T;T	0.58506	3.62;4.27;0.33	5.79	5.79	0.91817	.	0.171099	0.50627	D	0.000102	T	0.54631	0.1870	N	0.16862	0.45	0.48087	D	0.999588	P;P	0.46512	0.57;0.879	B;P	0.53760	0.363;0.734	T	0.52117	-0.8618	10	0.23891	T	0.37	.	16.1341	0.81471	0.0:0.0:0.0:1.0	.	122;146	G5E9B3;Q9BXB1	.;LGR4_HUMAN	G	146;122;98	ENSP00000368516:E146G;ENSP00000374508:E122G;ENSP00000431650:E98G	ENSP00000368516:E146G	E	-	2	0	LGR4	27363556	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.898000	0.63238	2.200000	0.70718	0.455000	0.32223	GAG		0.473	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		22	28	0	0	0	1	0	22	28				
TSPAN16	26526	broad.mit.edu	37	19	11409591	11409591	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:11409591C>T	ENST00000316737.1	+	3	461	c.311C>T	c.(310-312)gCt>gTt	p.A104V	TSPAN16_ENST00000590327.1_Missense_Mutation_p.A104V|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Intron	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	104						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GAAGTTACAGCTGCCACAGTG	0.512																																						ENST00000316737.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						c.(310-312)gCt>gTt		tetraspanin 16							216.0	166.0	183.0					19																	11409591		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11409591C>T	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.311C>T	19.37:g.11409591C>T	ENSP00000319486:p.Ala104Val					TSPAN16_ENST00000590327.1_Missense_Mutation_p.A104V|TSPAN16_ENST00000592955.1_Intron	p.A104V	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN			3	461	+			104					K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.311C>T	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	C	5.890	0.348272	0.11126	.	.	ENSG00000130167	ENST00000316737;ENST00000337994	T;T	0.79845	-1.31;-1.31	2.84	-2.26	0.06867	.	0.948528	0.08544	N	0.930118	T	0.68604	0.3019	L	0.41492	1.28	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.50215	-0.8854	10	0.21014	T	0.42	-2.3864	7.8486	0.29440	0.0:0.628:0.0:0.372	.	104	Q9UKR8	TSN16_HUMAN	V	104	ENSP00000319486:A104V;ENSP00000338759:A104V	ENSP00000319486:A104V	A	+	2	0	TSPAN16	11270591	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.462000	0.06704	-0.446000	0.07149	0.448000	0.29417	GCT		0.512	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		30	69	0	0	0	1	0	30	69				
MED13	9969	broad.mit.edu	37	17	60059865	60059865	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:60059865T>C	ENST00000397786.2	-	16	3575	c.3499A>G	c.(3499-3501)Agg>Ggg	p.R1167G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1167					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGGTAGCCCTGAGAGCTTCA	0.348																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3499-3501)Agg>Ggg		mediator complex subunit 13							124.0	112.0	116.0					17																	60059865		1874	4113	5987	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60059865T>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3499A>G	17.37:g.60059865T>C	ENSP00000380888:p.Arg1167Gly						p.R1167G	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			16	3575	-			1167					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.3499A>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781575	0.49891	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74947	-0.89	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.82963	-0.0196	10	0.44086	T	0.13	-8.0014	12.6978	0.57014	0.0:0.0:0.1373:0.8627	.	1167	Q9UHV7	MED13_HUMAN	G	1167;1166	ENSP00000380888:R1167G	ENSP00000262436:R1166G	R	-	1	2	MED13	57414647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.816000	0.55658	2.224000	0.72417	0.528000	0.53228	AGG		0.348	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		43	55	0	0	0	1	0	43	55				
DCANP1	140947	broad.mit.edu	37	5	134785404	134785404	+	5'Flank	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:134785404T>C	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Missense_Mutation_p.K76E|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCAGGGCCTTGAGGCAGAAG	0.662																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(226-228)Aag>Gag		TRAF-interacting protein with forkhead-associated domain, family member B							70.0	75.0	73.0					5																	134785404		2122	4225	6347	SO:0001631	upstream_gene_variant	497189							g.chr5:134785404T>C																													5.37:g.134785404T>C	Exception_encountered						p.K76E	NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	426	-			76			FHA.			Missense_Mutation	SNP	ENST00000503143.2	37	c.226A>G	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832189	0.50845	.	.	ENSG00000255833	ENST00000537858	D	0.86230	-2.09	4.91	4.91	0.64330	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.078523	0.51477	U	0.000081	D	0.90417	0.7000	M	0.66939	2.045	0.28740	N	0.902003	P	0.51240	0.943	P	0.57846	0.828	D	0.86492	0.1798	10	0.72032	D	0.01	.	11.2171	0.48833	0.0:0.0:0.0:1.0	.	76	Q6ZNK6	TIFAB_HUMAN	E	76	ENSP00000440509:K76E	ENSP00000440509:K76E	K	-	1	0	TIFAB	134813303	1.000000	0.71417	0.902000	0.35471	0.134000	0.20937	3.918000	0.56432	1.964000	0.57103	0.460000	0.39030	AAG		0.662	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			115	95	0	0	0	1	0	115	95				
DCAF4L2	138009	broad.mit.edu	37	8	88885771	88885771	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:88885771C>T	ENST00000319675.3	-	1	525	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	143								p.L143L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGAAGCACAGCAGAAGGTGGG	0.562																																						ENST00000319675.3																			1	Substitution - coding silent(1)	p.L143L(1)	lung(1)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(427-429)ctG>ctA		DDB1 and CUL4 associated factor 4-like 2							94.0	89.0	91.0					8																	88885771		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885771C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.429G>A	8.37:g.88885771C>T							p.L143L	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	525	-			143						Silent	SNP	ENST00000319675.3	37	c.429G>A	CCDS6245.1																																																																																				0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		110	55	0	0	0	1	0	110	55				
SACS	26278	broad.mit.edu	37	13	23915781	23915781	+	Missense_Mutation	SNP	C	C	T	rs143677534	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:23915781C>T	ENST00000382292.3	-	9	2507	c.2234G>A	c.(2233-2235)cGt>cAt	p.R745H	SACS_ENST00000382298.3_Missense_Mutation_p.R745H|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	745				RPCTQLQLLNPERFARLIKEV -> FLFDEDSNGKLKMVAV LITSC (in Ref. 4; BAC03486). {ECO:0000305}.	cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTGATAAGACGTGCAAATCG	0.368																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(2233-2235)cGt>cAt		spastic ataxia of Charlevoix-Saguenay (sacsin)		C	HIS/ARG	16,4382		0,16,2183	51.0	51.0	51.0		2234	6.1	1.0	13	dbSNP_134	51	0,8566		0,0,4283	yes	missense	SACS	NM_014363.4	29	0,16,6466	TT,TC,CC		0.0,0.3638,0.1234	probably-damaging	745/4580	23915781	16,12948	2199	4283	6482	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23915781C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2234G>A	13.37:g.23915781C>T	ENSP00000371729:p.Arg745His					SACS_ENST00000382292.3_Missense_Mutation_p.R745H|SACS_ENST00000402364.1_5'UTR	p.R745H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	2822	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	745	RPCTQLQLLNPERFARLIKEV -> FLFDEDSNGKLKMVAV LITSC (in Ref. 4; BAC03486).				O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.2234G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790973	0.90367	0.003638	0.0	ENSG00000151835	ENST00000382292;ENST00000382298	T;T	0.18960	2.18;2.18	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	M	0.70595	2.14	0.58432	D	0.99999	P;D	0.71674	0.921;0.998	B;P	0.61533	0.271;0.89	T	0.32107	-0.9919	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	644;745	B2REB1;Q9NZJ4	.;SACS_HUMAN	H	745	ENSP00000371729:R745H;ENSP00000371735:R745H	ENSP00000371729:R745H	R	-	2	0	SACS	22813781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.878000	0.98634	0.650000	0.86243	CGT		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		20	30	0	0	0	1	0	20	30				
RBMX	27316	broad.mit.edu	37	X	135960091	135960091	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:135960091G>A	ENST00000320676.7	-	4	525	c.371C>T	c.(370-372)tCa>tTa	p.S124L	SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000562646.1_Missense_Mutation_p.S124L|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000565438.1_5'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	124					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCCTCCCCGTGAGGGAGGTCC	0.547																																						ENST00000562646.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(370-372)tCa>tTa		RNA binding motif protein, X-linked							74.0	70.0	71.0					X																	135960091		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135960091G>A		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.371C>T	X.37:g.135960091G>A	ENSP00000359645:p.Ser124Leu					RBMX_ENST00000320676.7_Missense_Mutation_p.S124L|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000565438.1_5'UTR	p.S124L			P38159	HNRPG_HUMAN			4	525	-	Acute lymphoblastic leukemia(192;0.000127)		124					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.371C>T	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.117753	0.77323	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.77489	-1.1	5.65	5.65	0.86999	.	0.418941	0.22152	U	0.063918	D	0.87981	0.6315	M	0.82323	2.585	0.80722	D	1	P;D	0.54601	0.939;0.967	P;P	0.60789	0.637;0.879	D	0.89535	0.3788	10	0.87932	D	0	.	16.9816	0.86329	0.0:0.0:1.0:0.0	.	124;111	P38159;Q8N8Y7	HNRPG_HUMAN;.	L	124;111	ENSP00000359645:S124L	ENSP00000359645:S124L	S	-	2	0	RBMX	135787757	1.000000	0.71417	0.878000	0.34440	0.990000	0.78478	7.967000	0.87967	2.388000	0.81334	0.504000	0.49776	TCA		0.547	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		36	52	0	0	0	1	0	36	52				
MOCOS	55034	broad.mit.edu	37	18	33800116	33800116	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:33800116C>T	ENST00000261326.5	+	9	1917	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGCAGGAACCCCGGCTCTGCC	0.532																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1894-1896)ccC>ccT		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						128.0	113.0	118.0					18																	33800116		2203	4300	6503	SO:0001819	synonymous_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33800116C>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1896C>T	18.37:g.33800116C>T							p.P632P	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			9	1917	+			632						Silent	SNP	ENST00000261326.5	37	c.1896C>T	CCDS11919.1																																																																																				0.532	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			25	48	0	0	0	1	0	25	48				
AHNAK	79026	broad.mit.edu	37	11	62297595	62297595	+	Missense_Mutation	SNP	C	C	T	rs139799392		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:62297595C>T	ENST00000378024.4	-	5	4568	c.4294G>A	c.(4294-4296)Gca>Aca	p.A1432T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1432					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTAGTTTTGCGTCTGGACCT	0.433																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4294-4296)Gca>Aca		AHNAK nucleoprotein		C	THR/ALA,	0,4404		0,0,2202	194.0	206.0	202.0		4294,	3.3	0.0	11	dbSNP_134	202	2,8596		0,2,4297	no	missense,intron	AHNAK	NM_001620.1,NM_024060.2	58,	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,	1432/5891,	62297595	2,13000	2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297595C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4294G>A	11.37:g.62297595C>T	ENSP00000367263:p.Ala1432Thr					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.A1432T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4568	-		Melanoma(852;0.155)	1432					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4294G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	6.010	0.370337	0.11352	0.0	2.33E-4	ENSG00000124942	ENST00000378024	T	0.00912	5.55	4.25	3.31	0.37934	.	.	.	.	.	T	0.00936	0.0031	L	0.35487	1.065	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.44832	-0.9302	9	0.08599	T	0.76	.	10.7716	0.46325	0.0:0.9065:0.0:0.0935	.	1432	Q09666	AHNK_HUMAN	T	1432	ENSP00000367263:A1432T	ENSP00000367263:A1432T	A	-	1	0	AHNAK	62054171	0.003000	0.15002	0.042000	0.18584	0.011000	0.07611	0.255000	0.18333	0.879000	0.35944	0.500000	0.49745	GCA		0.433	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		111	186	0	0	0	1	0	111	186				
TACC3	10460	broad.mit.edu	37	4	1729657	1729657	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1729657C>T	ENST00000313288.4	+	4	634	c.528C>T	c.(526-528)ggC>ggT	p.G176G		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	176					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAGTGTCTGGCAGCCCTGAGC	0.552																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(526-528)ggC>ggT		transforming, acidic coiled-coil containing protein 3							64.0	75.0	71.0					4																	1729657		2203	4300	6503	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1729657C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.528C>T	4.37:g.1729657C>T							p.G176G	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	634	+		Breast(71;0.212)|all_epithelial(65;0.241)	176					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.528C>T	CCDS3352.1																																																																																				0.552	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			58	73	0	0	0	1	0	58	73				
MYRF	745	broad.mit.edu	37	11	61537778	61537778	+	Missense_Mutation	SNP	G	G	A	rs200370195		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:61537778G>A	ENST00000278836.5	+	5	617	c.521G>A	c.(520-522)cGc>cAc	p.R174H	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.R165H	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	174	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTGCCCTCCCGCCTGGAGCAT	0.677																																						ENST00000278836.5																			0											c.(520-522)cGc>cAc		myelin regulatory factor		G	HIS/ARG,HIS/ARG	0,4390		0,0,2195	18.0	16.0	17.0		521,494	3.9	1.0	11		17	5,8589		0,5,4292	yes	missense,missense	C11orf9	NM_001127392.1,NM_013279.2	29,29	0,5,6487	AA,AG,GG		0.0582,0.0,0.0385	probably-damaging,probably-damaging	174/1152,165/1112	61537778	5,12979	2195	4297	6492	SO:0001583	missense	745							g.chr11:61537778G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.521G>A	11.37:g.61537778G>A	ENSP00000278836:p.Arg174His					TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.R165H	p.R174H	NM_001127392.1	NP_001120864.1					5	617	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.521G>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482094	0.84747	0.0	5.82E-4	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.38560	1.13;1.15	3.89	3.89	0.44902	.	0.000000	0.64402	D	0.000002	T	0.50274	0.1606	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.959	T	0.53063	-0.8491	10	0.44086	T	0.13	-35.5312	17.1911	0.86879	0.0:0.0:1.0:0.0	.	165;174	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	H	174;165	ENSP00000278836:R174H;ENSP00000265460:R165H	ENSP00000265460:R165H	R	+	2	0	C11orf9	61294354	.	.	1.000000	0.80357	0.998000	0.95712	.	.	2.469000	0.83416	0.549000	0.68633	CGC		0.677	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		9	10	0	0	0	1	0	9	10				
ZCCHC14	23174	broad.mit.edu	37	16	87445612	87445612	+	Silent	SNP	G	G	A	rs370532179		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:87445612G>A	ENST00000268616.4	-	12	2521	c.2304C>T	c.(2302-2304)caC>caT	p.H768H		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	768	His-rich.						nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCTGCtgatggtggtggtggt	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		9634	0.001		0.0	False		,,,				2504	0.0					ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2302-2304)caC>caT		zinc finger, CCHC domain containing 14		G		1,4239		0,1,2119	13.0	17.0	15.0		2304	3.3	1.0	16		15	0,8292		0,0,4146	no	coding-synonymous	ZCCHC14	NM_015144.2		0,1,6265	AA,AG,GG		0.0,0.0236,0.0080		768/950	87445612	1,12531	2120	4146	6266	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445612G>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2304C>T	16.37:g.87445612G>A							p.H768H	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2521	-			768			His-rich.		D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.2304C>T	CCDS10961.1																																																																																				0.667	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		26	30	0	0	0	1	0	26	30				
SRRM4	84530	broad.mit.edu	37	12	119592107	119592107	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:119592107G>A	ENST00000267260.4	+	12	1839	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	484	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAGCGAGCGCGTCGGAGACGT	0.682																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1450-1452)cGt>cAt		serine/arginine repetitive matrix 4							15.0	20.0	18.0					12																	119592107		1853	4090	5943	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119592107G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1451G>A	12.37:g.119592107G>A	ENSP00000267260:p.Arg484His						p.R484H	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			12	1839	+			484			Arg-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1451G>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100449	0.94245	.	.	ENSG00000139767	ENST00000267260	T	0.49432	0.78	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.46157	1.445	0.33633	D	0.606319	P	0.50369	0.934	B	0.41813	0.367	T	0.59010	-0.7534	9	.	.	.	-4.4553	18.4529	0.90710	0.0:0.0:1.0:0.0	.	484	A7MD48	SRRM4_HUMAN	H	484	ENSP00000267260:R484H	.	R	+	2	0	SRRM4	118076490	0.763000	0.28462	0.023000	0.16930	0.973000	0.67179	3.747000	0.55134	2.364000	0.80123	0.655000	0.94253	CGT		0.682	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		8	20	0	0	0	1	0	8	20				
FLNA	2316	broad.mit.edu	37	X	153588429	153588429	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153588429C>A	ENST00000369850.3	-	22	3970	c.3734G>T	c.(3733-3735)aGc>aTc	p.S1245I	FLNA_ENST00000422373.1_Missense_Mutation_p.S1245I|FLNA_ENST00000360319.4_Missense_Mutation_p.S1245I|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.S1245I	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1245					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCAGCTTGCTGGGGAAGTT	0.632																																						ENST00000422373.1																			0				breast(6)	6						c.(3733-3735)aGc>aTc		filamin A, alpha							31.0	35.0	34.0					X																	153588429		2019	4137	6156	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588429C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3734G>T	X.37:g.153588429C>A	ENSP00000358866:p.Ser1245Ile					FLNA_ENST00000369850.3_Missense_Mutation_p.S1245I|FLNA_ENST00000344736.4_Missense_Mutation_p.S1245I|FLNA_ENST00000360319.4_Missense_Mutation_p.S1245I	p.S1245I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			22	3982	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1245					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3734G>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	9.725	1.160686	0.21538	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.76	4.93	4.93	0.64822	Immunoglobulin-like fold (1);	0.116572	0.56097	D	0.000023	T	0.81541	0.4844	N	0.10874	0.06	0.80722	D	1	B;B	0.31274	0.317;0.018	B;B	0.35550	0.205;0.055	T	0.78465	-0.2193	10	0.14252	T	0.57	.	14.0354	0.64642	0.0:0.8404:0.1596:0.0	.	1245;1245	P21333-2;P21333	.;FLNA_HUMAN	I	1245;1218;1245;1245;1245	ENSP00000353467:S1245I;ENSP00000416926:S1245I;ENSP00000358866:S1245I;ENSP00000358863:S1245I	ENSP00000358863:S1245I	S	-	2	0	FLNA	153241623	0.002000	0.14202	1.000000	0.80357	0.979000	0.70002	0.541000	0.23207	2.046000	0.60703	0.529000	0.55759	AGC		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			47	58	1	0	2.56175e-15	1	2.76001e-15	47	58				
RERE	473	broad.mit.edu	37	1	8416169	8416169	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:8416169G>A	ENST00000337907.3	-	22	5111	c.4477C>T	c.(4477-4479)Cca>Tca	p.P1493S	RERE_ENST00000476556.1_Missense_Mutation_p.P939S|RERE_ENST00000377464.1_Missense_Mutation_p.P1225S|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1493S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1493	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P1493T(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCGAAAACTGGGTGGCGAAGC	0.617																																						ENST00000337907.3																			1	Substitution - Missense(1)	p.P1493T(1)	lung(1)	central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4477-4479)Cca>Tca		arginine-glutamic acid dipeptide (RE) repeats							116.0	134.0	128.0					1																	8416169		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8416169G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4477C>T	1.37:g.8416169G>A	ENSP00000338629:p.Pro1493Ser					RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1493S|RERE_ENST00000377464.1_Missense_Mutation_p.P1225S|RERE_ENST00000476556.1_Missense_Mutation_p.P939S	p.P1493S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	22	5111	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1493			Pro-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.4477C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918718	0.92249	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	T;T;T	0.49139	0.79;0.8;0.79	6.08	6.08	0.98989	.	.	.	.	.	T	0.68659	0.3025	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.67051	-0.5768	9	0.56958	D	0.05	-11.7952	19.6516	0.95815	0.0:0.0:1.0:0.0	.	1493	Q9P2R6	RERE_HUMAN	S	1493;1225;939;1493;149	ENSP00000338629:P1493S;ENSP00000366684:P1225S;ENSP00000383700:P1493S	ENSP00000338629:P1493S	P	-	1	0	RERE	8338756	1.000000	0.71417	0.881000	0.34555	0.764000	0.43329	9.807000	0.99171	2.894000	0.99253	0.655000	0.94253	CCA		0.617	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			115	161	0	0	0	1	0	115	161				
ANXA4	307	broad.mit.edu	37	2	70035051	70035051	+	Missense_Mutation	SNP	A	A	G	rs139920396		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70035051A>G	ENST00000394295.4	+	6	568	c.320A>G	c.(319-321)gAt>gGt	p.D107G	ANXA4_ENST00000536030.1_Missense_Mutation_p.D23G|ANXA4_ENST00000409920.1_Missense_Mutation_p.D85G	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	105					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCCGGCACTGATGAGGGCTGC	0.552																																						ENST00000394295.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(319-321)gAt>gGt		annexin A4		A	GLY/ASP	0,4406		0,0,2203	62.0	55.0	57.0		320	5.9	0.9	2	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANXA4	NM_001153.3	94	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	107/322	70035051	1,13005	2203	4300	6503	SO:0001583	missense	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70035051A>G	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.320A>G	2.37:g.70035051A>G	ENSP00000377833:p.Asp107Gly					ANXA4_ENST00000536030.1_Missense_Mutation_p.D23G|ANXA4_ENST00000409920.1_Missense_Mutation_p.D85G	p.D107G	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN			6	568	+			105					B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	c.320A>G	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568091	0.86439	0.0	1.16E-4	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.05447	3.44;3.44;3.44	5.86	5.86	0.93980	Annexin repeat, conserved site (1);	0.046680	0.85682	D	0.000000	T	0.37625	0.1010	H	0.95884	3.735	0.54753	D	0.999988	D;D;D	0.89917	0.99;1.0;0.996	D;D;D	0.75484	0.958;0.986;0.973	T	0.54649	-0.8262	9	.	.	.	.	14.2165	0.65797	1.0:0.0:0.0:0.0	.	105;85;107	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	G	85;107;23	ENSP00000386756:D85G;ENSP00000377833:D107G;ENSP00000441931:D23G	.	D	+	2	0	ANXA4	69888555	1.000000	0.71417	0.910000	0.35882	0.944000	0.59088	6.885000	0.75606	2.244000	0.73946	0.528000	0.53228	GAT		0.552	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		28	41	0	0	0	1	0	28	41				
ZC3H6	376940	broad.mit.edu	37	2	113067600	113067600	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:113067600T>C	ENST00000409871.1	+	4	876	c.475T>C	c.(475-477)Tac>Cac	p.Y159H	ZC3H6_ENST00000343936.4_Missense_Mutation_p.Y159H	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	159							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTTTGGTAACTACGGTCAGGA	0.363																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(475-477)Tac>Cac		zinc finger CCCH-type containing 6							74.0	70.0	71.0					2																	113067600		1877	4116	5993	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113067600T>C	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.475T>C	2.37:g.113067600T>C	ENSP00000386764:p.Tyr159His					ZC3H6_ENST00000343936.4_Missense_Mutation_p.Y159H	p.Y159H	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			4	876	+			159					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.475T>C	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.256398	0.39896	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.14640	2.49;2.49	3.09	3.09	0.35607	.	0.348797	0.23589	N	0.046563	T	0.28732	0.0712	M	0.72894	2.215	0.28395	N	0.918919	D	0.64830	0.994	D	0.76071	0.987	T	0.05649	-1.0872	10	0.18710	T	0.47	-11.0665	7.9401	0.29952	0.0:0.0:0.0:1.0	.	159	P61129	ZC3H6_HUMAN	H	159;159;136	ENSP00000386764:Y159H;ENSP00000340298:Y159H	ENSP00000340298:Y159H	Y	+	1	0	ZC3H6	112784071	1.000000	0.71417	0.985000	0.45067	0.831000	0.47069	3.959000	0.56744	1.671000	0.50874	0.459000	0.35465	TAC		0.363	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		10	19	0	0	0	1	0	10	19				
LRRTM3	347731	broad.mit.edu	37	10	68686815	68686815	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:68686815T>C	ENST00000361320.4	+	2	719	c.141T>C	c.(139-141)tgT>tgC	p.C47C	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	47	LRRNT.				positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGGTATATTGTGAATCTCAGA	0.423																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(139-141)tgT>tgC		leucine rich repeat transmembrane neuronal 3							126.0	127.0	127.0					10																	68686815		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68686815T>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.141T>C	10.37:g.68686815T>C						CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	p.C47C	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	719	+			47			LRRNT.		A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.141T>C	CCDS7270.1																																																																																				0.423	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		20	70	0	0	0	1	0	20	70				
ZNF770	54989	broad.mit.edu	37	15	35273866	35273866	+	Silent	SNP	A	A	G	rs151315389	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:35273866A>G	ENST00000356321.4	-	3	2114	c.1770T>C	c.(1768-1770)ggT>ggC	p.G590G		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	590					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GCCCGGTGCTACCAGGAATAA	0.438																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1768-1770)ggT>ggC		zinc finger protein 770							116.0	118.0	117.0					15																	35273866		2201	4298	6499	SO:0001819	synonymous_variant	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35273866A>G	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1770T>C	15.37:g.35273866A>G							p.G590G	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	2114	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	590					Q6ZMZ6|Q9NWV2	Silent	SNP	ENST00000356321.4	37	c.1770T>C	CCDS10042.1																																																																																				0.438	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		77	95	0	0	0	1	0	77	95				
ZNF207	7756	broad.mit.edu	37	17	30694992	30694992	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:30694992G>A	ENST00000321233.6	+	9	1229	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	ZNF207_ENST00000342555.6_Missense_Mutation_p.A378T|ZNF207_ENST00000394673.2_Missense_Mutation_p.A344T|ZNF207_ENST00000394670.4_Missense_Mutation_p.A375T|ZNF207_ENST00000341711.6_Missense_Mutation_p.A276T|ZNF207_ENST00000577908.1_Missense_Mutation_p.A375T	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	359	GLEBS.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AACAACTAGTGCAACCAGTAA	0.398																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(1123-1125)Gca>Aca		zinc finger protein 207							122.0	113.0	116.0					17																	30694992		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30694992G>A	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1075G>A	17.37:g.30694992G>A	ENSP00000322777:p.Ala359Thr					ZNF207_ENST00000577908.1_Missense_Mutation_p.A375T|ZNF207_ENST00000394673.2_Missense_Mutation_p.A344T|ZNF207_ENST00000342555.6_Missense_Mutation_p.A378T|ZNF207_ENST00000341711.6_Missense_Mutation_p.A276T|ZNF207_ENST00000321233.6_Missense_Mutation_p.A359T	p.A375T	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1292	+		Breast(31;0.116)|Ovarian(249;0.182)	359					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.1123G>A	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621814	0.96660	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T;T	0.50813	0.76;0.85;0.73;0.8	5.91	5.91	0.95273	.	0.046454	0.85682	N	0.000000	T	0.64681	0.2620	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D	0.71674	0.996;0.996;0.996;0.996;0.998	D;D;D;D;D	0.78314	0.99;0.99;0.99;0.99;0.991	T	0.59043	-0.7528	10	0.40728	T	0.16	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	328;378;375;344;359	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	T	375;328;378;344;276;359	ENSP00000378165:A375T;ENSP00000322777:A344T;ENSP00000344913:A276T;ENSP00000340029:A359T	ENSP00000322777:A344T	A	+	1	0	ZNF207	27719105	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.805000	0.96524	0.460000	0.39030	GCA		0.398	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			37	62	0	0	0	1	0	37	62				
TGFBRAP1	9392	broad.mit.edu	37	2	105924173	105924173	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:105924173C>A	ENST00000393359.2	-	2	1012	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G196C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	196	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGGGAGACGCCTGTGCTGTAA	0.622																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(586-588)Ggc>Tgc		transforming growth factor, beta receptor associated protein 1							102.0	107.0	105.0					2																	105924173		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924173C>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.586G>T	2.37:g.105924173C>A	ENSP00000377027:p.Gly196Cys					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G196C	p.G196C			Q8WUH2	TGFA1_HUMAN			2	1012	-			196			CNH.		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.586G>T	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043754	0.75732	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.06068	3.35;3.35	5.32	4.44	0.53790	Citron-like (2);	0.053448	0.85682	D	0.000000	T	0.23410	0.0566	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00998	-1.1486	10	0.72032	D	0.01	-37.4053	14.1971	0.65679	0.0:0.9285:0.0:0.0715	.	196	Q8WUH2	TGFA1_HUMAN	C	196	ENSP00000377027:G196C;ENSP00000258449:G196C	ENSP00000258449:G196C	G	-	1	0	TGFBRAP1	105290605	1.000000	0.71417	0.721000	0.30653	0.916000	0.54674	7.320000	0.79064	1.475000	0.48197	0.655000	0.94253	GGC		0.622	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		94	126	1	0	1.63847e-34	1	1.83751e-34	94	126				
HIF1A	3091	broad.mit.edu	37	14	62207260	62207260	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:62207260G>T	ENST00000337138.4	+	11	1839	c.1574G>T	c.(1573-1575)aGt>aTt	p.S525I	HIF1A_ENST00000539097.1_Missense_Mutation_p.S549I|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.S466I|HIF1A_ENST00000394997.1_Missense_Mutation_p.S526I|HIF1A_ENST00000323441.6_Missense_Mutation_p.S525I	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	525	ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TATGTGGATAGTGATATGGTC	0.328																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(1576-1578)aGt>aTt		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							102.0	104.0	103.0					14																	62207260		2203	4299	6502	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62207260G>T	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1574G>T	14.37:g.62207260G>T	ENSP00000338018:p.Ser525Ile					HIF1A_ENST00000539097.1_Missense_Mutation_p.S549I|HIF1A_ENST00000337138.4_Missense_Mutation_p.S525I|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.S525I|HIF1A_ENST00000557538.1_Missense_Mutation_p.S466I|HIF1A-AS2_ENST00000554254.1_lincRNA	p.S526I			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	11	1842	+			525			ODD.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.1577G>T	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808947	0.50421	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.55930	0.6;0.6;0.49;0.59;0.6	6.16	5.18	0.71444	.	0.483231	0.26349	N	0.024886	T	0.42494	0.1205	L	0.41824	1.3	0.41646	D	0.989109	B;B;B	0.19073	0.033;0.033;0.033	B;B;B	0.24394	0.053;0.022;0.022	T	0.41197	-0.9522	10	0.62326	D	0.03	.	7.5321	0.27689	0.1734:0.0:0.8266:0.0	.	526;525;525	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	I	276;466;525;526;525;466;549	ENSP00000338018:S525I;ENSP00000378446:S526I;ENSP00000323326:S525I;ENSP00000451696:S466I;ENSP00000437955:S549I	ENSP00000323326:S525I	S	+	2	0	HIF1A	61277013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.315000	0.59172	2.937000	0.99478	0.650000	0.86243	AGT		0.328	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		28	31	1	0	5.61819e-17	1	6.0754e-17	28	31				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658461	72658461	+	RNA	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:72658461C>A	ENST00000425256.1	-	0	1450									GTF2I repeat domain containing 2 pseudogene 1																		atgaatatggccaactgggtg	0.433																																						ENST00000425256.1																			0																																																			0							g.chr7:72658461C>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658461C>A								NR_002164.1						0	1450	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.433	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		50	46	1	0	3.21987e-24	1	3.57899e-24	50	46				
GNAQ	2776	broad.mit.edu	37	9	80343579	80343579	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:80343579C>T	ENST00000286548.4	-	6	962	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	GNAQ_ENST00000397476.3_Missense_Mutation_p.R45Q	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	247					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TTCCTCCATTCGGTTCTGGAA	0.333			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		0				NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(739-741)cGa>cAa		guanine nucleotide binding protein (G protein), q polypeptide							103.0	103.0	103.0					9																	80343579		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80343579C>T		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.740G>A	9.37:g.80343579C>T	ENSP00000286548:p.Arg247Gln					GNAQ_ENST00000397476.3_Missense_Mutation_p.R45Q	p.R247Q	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			6	962	-			247					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.740G>A	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	36	5.718812	0.96839	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.92048	-2.96;-2.96	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.96059	0.8716	M	0.86268	2.805	0.80722	D	1	D	0.71674	0.998	P	0.58873	0.847	D	0.96020	0.9008	10	0.72032	D	0.01	.	20.1141	0.97919	0.0:1.0:0.0:0.0	.	247	P50148	GNAQ_HUMAN	Q	247;45	ENSP00000286548:R247Q;ENSP00000443197:R45Q	ENSP00000286548:R247Q	R	-	2	0	GNAQ	79533399	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.818000	0.86416	2.757000	0.94681	0.591000	0.81541	CGA		0.333	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		53	85	0	0	0	1	0	53	85				
LTA	4049	broad.mit.edu	37	6	31541415	31541415	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:31541415T>C	ENST00000454783.1	+	4	821	c.563T>C	c.(562-564)aTc>aCc	p.I188T	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Missense_Mutation_p.I188T	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	188					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	ACAGATGGCATCCCCCACCTA	0.522																																						ENST00000454783.1																			0				endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(562-564)aTc>aCc		lymphotoxin alpha	Etanercept(DB00005)						169.0	166.0	167.0					6																	31541415		2203	4300	6503	SO:0001583	missense	4049				cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31541415T>C	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.563T>C	6.37:g.31541415T>C	ENSP00000403495:p.Ile188Thr					LTA_ENST00000418386.2_Missense_Mutation_p.I188T	p.I188T	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN			4	821	+			188					Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	c.563T>C	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	T	3.495	-0.102973	0.06967	.	.	ENSG00000226979	ENST00000454783;ENST00000418386	D;D	0.94376	-3.41;-3.41	5.69	3.25	0.37280	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.367576	0.29389	N	0.012288	T	0.80539	0.4642	L	0.45137	1.4	0.36832	D	0.886952	B	0.18310	0.027	B	0.15870	0.014	T	0.70745	-0.4788	10	0.29301	T	0.29	-25.1323	6.0161	0.19603	0.0:0.0863:0.1809:0.7328	.	188	P01374	TNFB_HUMAN	T	188	ENSP00000403495:I188T;ENSP00000413450:I188T	ENSP00000413450:I188T	I	+	2	0	LTA	31649394	0.001000	0.12720	0.842000	0.33263	0.321000	0.28281	0.430000	0.21428	0.403000	0.25479	0.533000	0.62120	ATC		0.522	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			21	357	0	0	0	1	0	21	357				
MYC	4609	broad.mit.edu	37	8	128750639	128750639	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:128750639C>T	ENST00000259523.6	+	2	1336	c.131C>T	c.(130-132)gCg>gTg	p.A44V	MYC_ENST00000377970.2_Missense_Mutation_p.A59V|MYC_ENST00000524013.1_Missense_Mutation_p.A58V			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	44					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	CAGCCCCCGGCGCCCAGCGAG	0.637	A59V(RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A59V(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2	A59V(RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A59V(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(175-177)gCg>gTg		v-myc avian myelocytomatosis viral oncogene homolog							29.0	33.0	32.0					8																	128750639		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750639C>T		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.131C>T	8.37:g.128750639C>T	ENSP00000259523:p.Ala44Val		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000259523.6_Missense_Mutation_p.A44V|MYC_ENST00000524013.1_Missense_Mutation_p.A58V	p.A59V	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	686	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	44		P -> A (in a Burkitt lymphoma sample).			A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37	c.176C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.26|14.26	2.482034|2.482034	0.44147|0.44147	.|.	.|.	ENSG00000136997|ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013|ENST00000520751	T;T;T;T|.	0.26957|.	1.7;1.7;1.7;1.7|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Transcription regulator Myc, N-terminal (1);|.	0.099217|.	0.64402|.	D|.	0.000001|.	T|T	0.79381|0.79381	0.4436|0.4436	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|T	0.82888|0.82888	-0.0234|-0.0234	10|6	0.72032|0.87932	D|D	0.01|0	-24.1944|-24.1944	17.3275|17.3275	0.87253|0.87253	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	44|.	P01106|.	MYC_HUMAN|.	V|C	44;58;59;58|33	ENSP00000259523:A44V;ENSP00000429441:A58V;ENSP00000367207:A59V;ENSP00000430235:A58V|.	ENSP00000259523:A44V|ENSP00000430226:R33C	A|R	+|+	2|1	0|0	MYC|MYC	128819821|128819821	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.794000|5.794000	0.69067|0.69067	2.654000|2.654000	0.90174|0.90174	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.637	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			88	35	0	0	0	1	0	88	35				
PTGFRN	5738	broad.mit.edu	37	1	117484351	117484351	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:117484351C>T	ENST00000393203.2	+	2	211	c.64C>T	c.(64-66)Cgt>Tgt	p.R22C		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	22					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTGCCGAGGGCGTGTGGTGAG	0.537																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(64-66)Cgt>Tgt		prostaglandin F2 receptor inhibitor							72.0	73.0	73.0					1																	117484351		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117484351C>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.64C>T	1.37:g.117484351C>T	ENSP00000376899:p.Arg22Cys						p.R22C	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	2	211	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	22					Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.64C>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866769	0.51588	.	.	ENSG00000134247	ENST00000393203	T	0.07444	3.19	5.46	5.46	0.80206	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	M	0.77616	2.38	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.00168	-1.1963	10	0.87932	D	0	-17.4659	12.1638	0.54119	0.1708:0.8291:0.0:0.0	.	22	Q9P2B2	FPRP_HUMAN	C	22	ENSP00000376899:R22C	ENSP00000376899:R22C	R	+	1	0	PTGFRN	117285874	1.000000	0.71417	0.967000	0.41034	0.168000	0.22595	4.995000	0.63908	2.733000	0.93635	0.467000	0.42956	CGT		0.537	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		48	57	0	0	0	1	0	48	57				
SRSF5	6430	broad.mit.edu	37	14	70235387	70235387	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:70235387G>A	ENST00000553521.1	+	4	1646	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SRSF5_ENST00000553635.1_Missense_Mutation_p.E62K|SRSF5_ENST00000554021.1_Missense_Mutation_p.E65K|SRSF5_ENST00000451983.2_Missense_Mutation_p.E65K|SRSF5_ENST00000555349.1_Missense_Mutation_p.E65K|SRSF5_ENST00000557154.1_Missense_Mutation_p.E65K|SRSF5_ENST00000553548.1_Missense_Mutation_p.E65K|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Missense_Mutation_p.E65K			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	65	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						ACTCTGTAGTGAAAGGTGAGA	0.398																																						ENST00000553521.1																			0				large_intestine(1)|liver(1)	2						c.(193-195)Gaa>Aaa		serine/arginine-rich splicing factor 5							219.0	210.0	213.0					14																	70235387		2203	4300	6503	SO:0001583	missense	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70235387G>A	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.193G>A	14.37:g.70235387G>A	ENSP00000452123:p.Glu65Lys					SRSF5_ENST00000555349.1_Missense_Mutation_p.E65K|SRSF5_ENST00000554021.1_Missense_Mutation_p.E65K|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000553548.1_Missense_Mutation_p.E65K|SRSF5_ENST00000557154.1_Missense_Mutation_p.E65K|SRSF5_ENST00000394366.2_Missense_Mutation_p.E65K|SRSF5_ENST00000553635.1_Missense_Mutation_p.E62K|SRSF5_ENST00000451983.2_Missense_Mutation_p.E65K	p.E65K			Q13243	SRSF5_HUMAN			4	1646	+			65			RRM 1.		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	37	c.193G>A	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204866	0.79127	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553548;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	T;T;T;T;T;T;T;T;T	0.72051	2.54;2.54;-0.62;-0.62;2.54;-0.62;2.54;-0.62;-0.62	5.95	5.05	0.67936	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.67477	0.2897	N	0.02368	-0.58	0.80722	D	1	P;P;D	0.76494	0.941;0.887;0.999	P;P;D	0.83275	0.889;0.733;0.996	T	0.79424	-0.1809	10	0.66056	D	0.02	.	17.059	0.86542	0.0:0.127:0.873:0.0	.	62;65;65	Q13243-3;Q6FGE0;Q13243	.;.;SRSF5_HUMAN	K	65;65;65;65;65;65;62;65;65	ENSP00000452123:E65K;ENSP00000377892:E65K;ENSP00000452400:E65K;ENSP00000452449:E65K;ENSP00000451088:E65K;ENSP00000402734:E65K;ENSP00000451391:E62K;ENSP00000452090:E65K;ENSP00000450918:E65K	ENSP00000377892:E65K	E	+	1	0	SRSF5	69305140	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	1.486000	0.48398	0.655000	0.94253	GAA		0.398	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		62	82	0	0	0	1	0	62	82				
PIK3C3	5289	broad.mit.edu	37	18	39575909	39575909	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:39575909C>A	ENST00000262039.4	+	8	928	c.842C>A	c.(841-843)cCt>cAt	p.P281H	PIK3C3_ENST00000398870.3_Missense_Mutation_p.P218H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	281					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGAAGTGGACCTTCTGACCAC	0.348										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(841-843)cCt>cAt		phosphatidylinositol 3-kinase, catalytic subunit type 3							56.0	57.0	57.0					18																	39575909		2203	4299	6502	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39575909C>A	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.842C>A	18.37:g.39575909C>A	ENSP00000262039:p.Pro281His	TSP Lung(28;0.18)				PIK3C3_ENST00000398870.3_Missense_Mutation_p.P218H	p.P281H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			8	928	+			281					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.842C>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758676	0.69763	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.63580	-0.05;-0.05	5.45	5.45	0.79879	Phosphoinositide 3-kinase, accessory (PIK) domain (1);Armadillo-type fold (1);	0.049680	0.85682	D	0.000000	T	0.64249	0.2581	L	0.37850	1.14	0.80722	D	1	P;D	0.54397	0.939;0.966	P;P	0.51193	0.662;0.662	T	0.60732	-0.7205	9	.	.	.	.	19.6374	0.95740	0.0:1.0:0.0:0.0	.	218;281	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	H	281;218	ENSP00000262039:P281H;ENSP00000381845:P218H	.	P	+	2	0	PIK3C3	37829907	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.752000	0.85141	2.711000	0.92665	0.563000	0.77884	CCT		0.348	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		37	49	1	0	4.67007e-22	1	5.17127e-22	37	49				
ITGA9	3680	broad.mit.edu	37	3	37544757	37544757	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:37544757T>C	ENST00000264741.5	+	6	957	c.701T>C	c.(700-702)cTg>cCg	p.L234P	ITGA9_ENST00000422441.1_Missense_Mutation_p.L234P	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	234					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TATTTAAAACTGAACGACGAA	0.483																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(700-702)cTg>cCg		integrin, alpha 9							121.0	108.0	113.0					3																	37544757		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37544757T>C	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.701T>C	3.37:g.37544757T>C	ENSP00000264741:p.Leu234Pro					ITGA9_ENST00000422441.1_Missense_Mutation_p.L234P	p.L234P	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	6	957	+			234					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.701T>C	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	T	9.411	1.080448	0.20309	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.45276	0.9;0.9	5.89	5.89	0.94794	.	0.068041	0.64402	D	0.000008	T	0.31575	0.0801	N	0.17922	0.545	0.80722	D	1	B;B	0.15141	0.007;0.012	B;B	0.18561	0.009;0.022	T	0.05750	-1.0866	10	0.34782	T	0.22	.	15.9773	0.80079	0.0:0.0:0.0:1.0	.	234;234	Q13797;E9PDS3	ITA9_HUMAN;.	P	234	ENSP00000397258:L234P;ENSP00000264741:L234P	ENSP00000264741:L234P	L	+	2	0	ITGA9	37519761	1.000000	0.71417	0.983000	0.44433	0.053000	0.15095	3.820000	0.55693	2.254000	0.74563	0.533000	0.62120	CTG		0.483	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		35	49	0	0	0	1	0	35	49				
SUCLG1	8802	broad.mit.edu	37	2	84670463	84670463	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:84670463G>A	ENST00000393868.2	-	3	473	c.263C>T	c.(262-264)cCa>cTa	p.P88L		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	88					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TCCTTTCCCTGGAGTGGTTCC	0.488																																					Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(262-264)cCa>cTa		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						117.0	108.0	111.0					2																	84670463		2203	4300	6503	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84670463G>A	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.263C>T	2.37:g.84670463G>A	ENSP00000377446:p.Pro88Leu						p.P88L	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN			3	473	-			88					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.263C>T	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	G	33	5.264099	0.95399	.	.	ENSG00000163541	ENST00000393868	D	0.90788	-2.73	5.9	5.9	0.94986	CoA-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	D	0.98216	1.0475	10	0.87932	D	0	-0.4193	17.7706	0.88491	0.0:0.0:1.0:0.0	.	88;88	B7Z438;P53597	.;SUCA_HUMAN	L	88	ENSP00000377446:P88L	ENSP00000377446:P88L	P	-	2	0	SUCLG1	84523974	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.869000	0.99810	2.808000	0.96608	0.650000	0.86243	CCA		0.488	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		5	96	0	0	0	1	0	5	96				
ZBTB14	7541	broad.mit.edu	37	18	5290969	5290969	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:5290969C>T	ENST00000357006.4	-	4	1576	c.1238G>A	c.(1237-1239)aGt>aAt	p.S413N	ZBTB14_ENST00000400143.3_Missense_Mutation_p.S413N	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	413					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										CTTCCTTTCACTGTGCATATT	0.532																																						ENST00000357006.4																			0											c.(1237-1239)aGt>aAt		zinc finger and BTB domain containing 14							203.0	152.0	169.0					18																	5290969		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5290969C>T	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1238G>A	18.37:g.5290969C>T	ENSP00000349503:p.Ser413Asn					ZBTB14_ENST00000400143.3_Missense_Mutation_p.S413N	p.S413N	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	1576	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.1238G>A	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451887	0.26074	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.09255	3.0;3.0	5.92	5.05	0.67936	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.042245	0.85682	D	0.000000	T	0.09555	0.0235	N	0.24115	0.695	0.58432	D	0.999997	B	0.18461	0.028	B	0.12156	0.007	T	0.07986	-1.0744	10	0.62326	D	0.03	-16.3917	15.2015	0.73142	0.0:0.9325:0.0:0.0675	.	413	O43829	ZF161_HUMAN	N	413	ENSP00000349503:S413N;ENSP00000383009:S413N	ENSP00000349503:S413N	S	-	2	0	ZFP161	5280969	1.000000	0.71417	0.911000	0.35937	0.967000	0.64934	6.007000	0.70731	1.502000	0.48669	0.650000	0.86243	AGT		0.532	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		42	69	0	0	0	1	0	42	69				
FSCN1	6624	broad.mit.edu	37	7	5645075	5645075	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:5645075C>T	ENST00000382361.3	+	5	1566	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	FSCN1_ENST00000340250.6_Silent_p.T463T	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	484					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CGGCGGAAACCGTGGACCCCG	0.662																																						ENST00000382361.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1450-1452)acC>acT		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)							32.0	29.0	30.0					7																	5645075		2196	4298	6494	SO:0001819	synonymous_variant	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5645075C>T	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1452C>T	7.37:g.5645075C>T						FSCN1_ENST00000340250.6_Silent_p.T463T	p.T484T	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	5	1566	+		Ovarian(82;0.0694)	484					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	ENST00000382361.3	37	c.1452C>T	CCDS5342.1																																																																																				0.662	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		5	3	0	0	0	1	0	5	3				
EPPK1	83481	broad.mit.edu	37	8	144945055	144945055	+	Silent	SNP	G	G	A	rs200117350	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144945055G>A	ENST00000525985.1	-	2	2438	c.2367C>T	c.(2365-2367)ccC>ccT	p.P789P				P58107	EPIPL_HUMAN	epiplakin 1	789						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCCGTCTCGGGGTCACGCA	0.627																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2365-2367)ccC>ccT		epiplakin 1							59.0	70.0	66.0					8																	144945055		2121	4225	6346	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945055G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2367C>T	8.37:g.144945055G>A							p.P789P			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2438	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		789					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.2367C>T																																																																																					0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		48	142	0	0	0	1	0	48	142				
ISLR2	57611	broad.mit.edu	37	15	74425609	74425609	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:74425609G>A	ENST00000361742.3	+	4	1283	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	ISLR2_ENST00000419208.1_Missense_Mutation_p.A172T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A172T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A172T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	172					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGCGCTTAGCGCGCTGTCACA	0.667																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(514-516)Gcg>Acg		immunoglobulin superfamily containing leucine-rich repeat 2							56.0	63.0	61.0					15																	74425609		2198	4293	6491	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425609G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.514G>A	15.37:g.74425609G>A	ENSP00000355402:p.Ala172Thr					ISLR2_ENST00000435464.1_Missense_Mutation_p.A172T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A172T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172T	p.A172T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	1283	+			172					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.514G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338972	0.60963	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	4.46	3.45	0.39498	.	0.158495	0.42821	U	0.000650	T	0.55529	0.1926	L	0.35723	1.085	0.45979	D	0.998791	D	0.57899	0.981	P	0.52066	0.689	T	0.58792	-0.7574	10	0.54805	T	0.06	.	11.4853	0.50350	0.0:0.0:0.6426:0.3574	.	172	Q6UXK2	ISLR2_HUMAN	T	172	ENSP00000403244:A172T;ENSP00000355402:A172T;ENSP00000411443:A172T;ENSP00000411834:A172T;ENSP00000408872:A172T	ENSP00000355402:A172T	A	+	1	0	ISLR2	72212662	0.993000	0.37304	0.996000	0.52242	0.931000	0.56810	2.415000	0.44635	2.042000	0.60477	0.407000	0.27541	GCG		0.667	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		70	95	0	0	0	1	0	70	95				
MSH2	4436	broad.mit.edu	37	2	47707956	47707956	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:47707956G>A	ENST00000233146.2	+	15	2803	c.2580G>A	c.(2578-2580)tcG>tcA	p.S860S	MSH2_ENST00000461394.1_3'UTR|MSH2_ENST00000406134.1_Silent_p.S860S|MSH2_ENST00000543555.1_Silent_p.S794S	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	860			S -> L (associated with HNPCC1; unknown pathological significance; repair proficient).		ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGGAGAATCGCAAGGATATG	0.383			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(2578-2580)tcG>tcA	Mismatch excision repair (MMR)	mutS homolog 2							130.0	124.0	126.0					2																	47707956		2203	4300	6503	SO:0001819	synonymous_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47707956G>A	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2580G>A	2.37:g.47707956G>A						MSH2_ENST00000543555.1_Silent_p.S794S|MSH2_ENST00000461394.1_3'UTR|MSH2_ENST00000233146.2_Silent_p.S860S	p.S860S			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		15	2642	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	860					B4E2Z2|O75488	Silent	SNP	ENST00000233146.2	37	c.2580G>A	CCDS1834.1																																																																																				0.383	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			56	64	0	0	0	1	0	56	64				
COL5A1	1289	broad.mit.edu	37	9	137687154	137687154	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:137687154G>C	ENST00000371817.3	+	34	3206	c.2792G>C	c.(2791-2793)gGc>gCc	p.G931A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	931	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGAAGCCTGGCCCCAAGGTA	0.602																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2791-2793)gGc>gCc		collagen, type V, alpha 1							62.0	64.0	63.0					9																	137687154		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137687154G>C	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2792G>C	9.37:g.137687154G>C	ENSP00000360882:p.Gly931Ala						p.G931A	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	34	3206	+		Myeloproliferative disorder(178;0.0341)	931			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2792G>C	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.736898	0.69304	.	.	ENSG00000130635	ENST00000371817	D	0.97066	-4.23	4.22	4.22	0.49857	.	0.000000	0.64402	U	0.000001	D	0.98858	0.9614	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99793	1.1032	10	0.87932	D	0	.	16.5867	0.84729	0.0:0.0:1.0:0.0	.	931	P20908	CO5A1_HUMAN	A	931	ENSP00000360882:G931A	ENSP00000360882:G931A	G	+	2	0	COL5A1	136826975	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	9.169000	0.94788	1.904000	0.55121	0.297000	0.19635	GGC		0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		43	78	0	0	0	1	0	43	78				
GPR142	350383	broad.mit.edu	37	17	72368690	72368690	+	Missense_Mutation	SNP	C	C	T	rs544945480		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:72368690C>T	ENST00000335666.4	+	4	1388	c.1340C>T	c.(1339-1341)gCg>gTg	p.A447V		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	447						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A447E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGCATGGCGGCGAAGCCTGTG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17900	0.0		0.001	False		,,,				2504	0.0					ENST00000335666.4																			1	Substitution - Missense(1)	p.A447E(1)	lung(1)	central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(1339-1341)gCg>gTg		G protein-coupled receptor 142							28.0	27.0	28.0					17																	72368690		2198	4298	6496	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368690C>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1340C>T	17.37:g.72368690C>T	ENSP00000335158:p.Ala447Val						p.A447V	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			4	1388	+			447					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.1340C>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	C	7.376	0.627734	0.14257	.	.	ENSG00000257008	ENST00000335666	T	0.68181	-0.31	4.62	-9.23	0.00672	.	1.668210	0.03974	N	0.292270	T	0.46132	0.1377	N	0.11560	0.145	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.51795	-0.8660	10	0.25106	T	0.35	0.2383	16.5104	0.84283	0.0882:0.6856:0.0:0.2262	.	447;1409	Q7Z601;Q8NGB0	GP142_HUMAN;.	V	447	ENSP00000335158:A447V	ENSP00000335158:A447V	A	+	2	0	GPR142	69880285	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.636000	0.00867	-3.486000	0.00154	-1.060000	0.02296	GCG		0.617	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		14	28	0	0	0	1	0	14	28				
TRAV22	28661	broad.mit.edu	37	14	22539003	22539003	+	RNA	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:22539003C>T	ENST00000390450.3	+	0	184									T cell receptor alpha variable 22																		CCCAGGTTTGCTGTGAGTTGG	0.488																																						ENST00000390450.3																			0																				72.0	79.0	77.0					14																	22539003		1921	4145	6066			0							g.chr14:22539003C>T	AE000660		14q11.2	2012-02-07			ENSG00000211802	ENSG00000211802		"""T cell receptors / TRA locus"""	12119	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV13S1, TCRAV22S1			OTTHUMG00000170649		14.37:g.22539003C>T														0	184	+									RNA	SNP	ENST00000390450.3	37																																																																																						0.488	TRAV22-001	KNOWN	upstream_ATG|mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409897.1	NG_001332		4	8	0	0	0	1	0	4	8				
ARSD	414	broad.mit.edu	37	X	2828698	2828698	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:2828698A>G	ENST00000381154.1	-	7	1211		c.e7+1		ARSD_ENST00000217890.6_5'Flank	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCACAACTCACCTTTGTAAA	0.453																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.e7+1		arylsulfatase D							346.0	269.0	295.0					X																	2828698		2203	4300	6503	SO:0001630	splice_region_variant	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2828698A>G	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1135+1T>C	X.37:g.2828698A>G								NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			7	1211	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						Q9UHJ8	Splice_Site	SNP	ENST00000381154.1	37		CCDS35196.1	.	.	.	.	.	.	.	.	.	.	A	8.360	0.832846	0.16820	.	.	ENSG00000006756	ENST00000381154	.	.	.	3.3	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1677	0.48552	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARSD	2838698	1.000000	0.71417	0.011000	0.14972	0.133000	0.20885	7.045000	0.76585	1.051000	0.40369	0.352000	0.21897	.		0.453	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1		Intron	18	236	0	0	0	1	0	18	236				
CCND1	595	broad.mit.edu	37	11	69466022	69466022	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:69466022C>T	ENST00000227507.2	+	5	1087	c.860C>T	c.(859-861)cCc>cTc	p.P287L	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	287					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P287L(1)|p.P287H(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCTTGCACACCCACCGACGTG	0.716			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	ENST00000227507.2				Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	"""IGH@, FSTL3"""		"""CLL, B-ALL, breast"""		2	Substitution - Missense(2)	p.P287L(1)|p.P287H(1)	NS(1)|endometrium(1)	NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23						c.(859-861)cCc>cTc		cyclin D1	Arsenic trioxide(DB01169)						23.0	19.0	20.0					11																	69466022		2200	4292	6492	SO:0001583	missense	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69466022C>T	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.860C>T	11.37:g.69466022C>T	ENSP00000227507:p.Pro287Leu	Multiple Myeloma(6;0.086)					p.P287L	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		5	1087	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		287					Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.860C>T	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189827	0.94923	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	T	0.17854	2.25	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57556	-0.7791	10	0.87932	D	0	.	19.5807	0.95467	0.0:1.0:0.0:0.0	.	287	P24385	CCND1_HUMAN	L	287;153	ENSP00000227507:P287L	ENSP00000227507:P287L	P	+	2	0	CCND1	69175203	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.406000	0.66357	2.623000	0.88846	0.655000	0.94253	CCC		0.716	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		10	13	0	0	0	1	0	10	13				
NOTCH1	4851	broad.mit.edu	37	9	139418329	139418329	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139418329G>A	ENST00000277541.6	-	3	318	c.243C>T	c.(241-243)ggC>ggT	p.G81G	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	81	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTCTGCCACGCCTCTGCGGT	0.697			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(241-243)ggC>ggT		notch 1							22.0	32.0	29.0					9																	139418329		2144	4240	6384	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139418329G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.243C>T	9.37:g.139418329G>A		HNSCC(8;0.001)				NOTCH1_ENST00000491649.1_5'UTR	p.G81G	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	3	318	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	81			EGF-like 2.		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.243C>T	CCDS43905.1																																																																																				0.697	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	11	0	0	0	1	0	13	11				
CLDN5	7122	broad.mit.edu	37	22	19511475	19511475	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:19511475C>T	ENST00000406028.1	-	2	1619	c.559G>A	c.(559-561)Gcg>Acg	p.A187T	CLDN5_ENST00000413119.2_Missense_Mutation_p.A187T|CLDN5_ENST00000403084.1_Missense_Mutation_p.A187T			O00501	CLD5_HUMAN	claudin 5	102					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					GTGCACTGCGCGCCCGCCAGG	0.736																																						ENST00000406028.1																			0				liver(1)|lung(2)|prostate(1)	4						c.(559-561)Gcg>Acg		claudin 5							7.0	8.0	8.0					22																	19511475		2165	4211	6376	SO:0001583	missense	7122				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr22:19511475C>T	AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"""Claudins"""	2047	protein-coding gene	gene with protein product		602101	"""transmembrane protein deleted in velocardiofacial syndrome"""	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.559G>A	22.37:g.19511475C>T	ENSP00000385477:p.Ala187Thr					CLDN5_ENST00000403084.1_Missense_Mutation_p.A187T|CLDN5_ENST00000413119.2_Missense_Mutation_p.A187T	p.A187T			O00501	CLD5_HUMAN			2	1619	-	Colorectal(54;0.0993)		102					B3KS11|Q53XW2|Q8WUW3	Missense_Mutation	SNP	ENST00000406028.1	37	c.559G>A	CCDS13763.2	.	.	.	.	.	.	.	.	.	.	C	36	5.785029	0.96937	.	.	ENSG00000184113	ENST00000406028;ENST00000403084;ENST00000413119	D;D;D	0.88664	-2.41;-2.41;-2.41	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.94503	0.8230	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.94767	0.7941	10	0.52906	T	0.07	.	17.184	0.86862	0.0:1.0:0.0:0.0	.	187	D3DX19	.	T	187	ENSP00000385477:A187T;ENSP00000384554:A187T;ENSP00000400612:A187T	ENSP00000384554:A187T	A	-	1	0	CLDN5	17891475	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.016000	0.57159	2.315000	0.78130	0.462000	0.41574	GCG		0.736	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318122.3	NM_003277		8	8	0	0	0	1	0	8	8				
ARHGEF26	26084	broad.mit.edu	37	3	153870684	153870684	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:153870684T>C	ENST00000356448.4	+	6	1734	c.1450T>C	c.(1450-1452)Ttc>Ctc	p.F484L	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.F484L|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	484	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GCACCATCTTTTCTCCAATAT	0.378																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	ENST00000356448.4																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(1450-1452)Ttc>Ctc		Rho guanine nucleotide exchange factor (GEF) 26							72.0	65.0	67.0					3																	153870684		1903	4111	6014	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153870684T>C	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1450T>C	3.37:g.153870684T>C	ENSP00000348828:p.Phe484Leu					ARHGEF26_ENST00000465093.1_Missense_Mutation_p.F484L|ARHGEF26_ENST00000465817.1_Intron	p.F484L	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN			6	1734	+			484			DH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.1450T>C	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	T	32	5.192240	0.94960	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	D;D	0.83992	-1.79;-1.79	5.55	5.55	0.83447	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.90638	0.7064	M	0.74546	2.27	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.83275	0.873;0.996	D	0.91479	0.5203	10	0.62326	D	0.03	-24.6696	15.7039	0.77563	0.0:0.0:0.0:1.0	.	484;484	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	L	484	ENSP00000348828:F484L;ENSP00000423418:F484L	ENSP00000348828:F484L	F	+	1	0	ARHGEF26	155353374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.930000	0.87610	2.105000	0.64084	0.455000	0.32223	TTC		0.378	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		3	13	0	0	0	1	0	3	13				
ALDH1A1	216	broad.mit.edu	37	9	75543858	75543858	+	Missense_Mutation	SNP	C	C	T	rs188688581		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:75543858C>T	ENST00000297785.3	-	4	446	c.392G>A	c.(391-393)cGc>cAc	p.R131H	ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Missense_Mutation_p.R131H	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	131					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TGCACAGTAGCGCAATGTTTT	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		16300	0.001		0.0	False		,,,				2504	0.0					ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(391-393)cGc>cAc		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						182.0	157.0	165.0					9																	75543858		2203	4300	6503	SO:0001583	missense	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75543858C>T	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.392G>A	9.37:g.75543858C>T	ENSP00000297785:p.Arg131His					ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Missense_Mutation_p.R131H	p.R131H	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN			4	446	-			131					O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	c.392G>A	CCDS6644.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	15.73	2.918558	0.52546	.	.	ENSG00000165092	ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.9	0.893	0.19236	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.164532	0.42420	N	0.000704	T	0.71879	0.3392	M	0.78285	2.405	0.37928	D	0.931922	B	0.34181	0.44	B	0.23150	0.044	T	0.71748	-0.4499	10	0.87932	D	0	.	10.2488	0.43356	0.0:0.6715:0.0:0.3285	.	131	P00352	AL1A1_HUMAN	H	131;131;145;131;131	ENSP00000297785:R131H;ENSP00000366138:R131H;ENSP00000388026:R131H;ENSP00000401361:R131H	ENSP00000297785:R131H	R	-	2	0	ALDH1A1	74733678	1.000000	0.71417	0.864000	0.33941	0.602000	0.36980	2.469000	0.45110	0.118000	0.18165	-0.253000	0.11424	CGC		0.428	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			48	90	0	0	0	1	0	48	90				
MROH6	642475	broad.mit.edu	37	8	144649983	144649983	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144649983G>A	ENST00000398882.3	-	12	2096	c.1840C>T	c.(1840-1842)Ctg>Ttg	p.L614L	MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000532704.1_5'UTR|MROH6_ENST00000533679.1_5'UTR	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	614																	GCCCGGCGCAGGGGGTCCTGT	0.701																																						ENST00000398882.3																			0											c.(1840-1842)Ctg>Ttg		maestro heat-like repeat family member 6							22.0	28.0	26.0					8																	144649983		1954	4126	6080	SO:0001819	synonymous_variant	642475							g.chr8:144649983G>A	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1840C>T	8.37:g.144649983G>A						MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000532704.1_5'UTR	p.L614L	NM_001100878.1	NP_001094348.1					12	2096	-								A8MWB1	Silent	SNP	ENST00000398882.3	37	c.1840C>T	CCDS47928.1																																																																																				0.701	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		14	45	0	0	0	1	0	14	45				
GOLIM4	27333	broad.mit.edu	37	3	167754717	167754717	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:167754717A>G	ENST00000470487.1	-	8	1439	c.750T>C	c.(748-750)ccT>ccC	p.P250P	GOLIM4_ENST00000309027.4_Silent_p.P222P	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	250					transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGCTGGATCAGGTTTTCGAA	0.453																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(748-750)ccT>ccC		golgi integral membrane protein 4							225.0	214.0	218.0					3																	167754717		2203	4300	6503	SO:0001819	synonymous_variant	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167754717A>G	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.750T>C	3.37:g.167754717A>G						GOLIM4_ENST00000309027.4_Silent_p.P222P	p.P250P	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			8	1439	-			250						Silent	SNP	ENST00000470487.1	37	c.750T>C	CCDS3204.1																																																																																				0.453	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			53	93	0	0	0	1	0	53	93				
PSMB1	5689	broad.mit.edu	37	6	170844432	170844432	+	Missense_Mutation	SNP	C	C	T	rs150833808		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:170844432C>T	ENST00000262193.6	-	6	700	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	TTTCACCAGCCGCATGGCTCT	0.512																																						ENST00000262193.6																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(601-603)cGg>cAg		proteasome (prosome, macropain) subunit, beta type, 1	Bortezomib(DB00188)	C	GLN/ARG	0,4406		0,0,2203	114.0	93.0	100.0		602	1.2	0.9	6	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PSMB1	NM_002793.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	201/242	170844432	2,13004	2203	4300	6503	SO:0001583	missense	5689				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:170844432C>T	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"""Proteasome (prosome, macropain) subunits"""	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.602G>A	6.37:g.170844432C>T	ENSP00000262193:p.Arg201Gln					PSMB1_ENST00000462957.1_5'UTR	p.R201Q	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	6	700	-		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)	201					B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	c.602G>A	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	C	8.477	0.858974	0.17178	0.0	2.33E-4	ENSG00000008018	ENST00000262193	T	0.21543	2.0	5.48	1.17	0.20885	.	0.239529	0.43260	N	0.000583	T	0.01421	0.0046	N	0.01705	-0.755	0.32619	N	0.523555	B	0.02656	0.0	B	0.01281	0.0	T	0.47420	-0.9119	10	0.05351	T	0.99	-2.7203	6.789	0.23689	0.0:0.3554:0.0:0.6446	.	201	P20618	PSB1_HUMAN	Q	201	ENSP00000262193:R201Q	ENSP00000262193:R201Q	R	-	2	0	PSMB1	170686357	1.000000	0.71417	0.875000	0.34327	0.997000	0.91878	3.568000	0.53820	0.298000	0.22638	0.555000	0.69702	CGG		0.512	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793		67	49	0	0	0	1	0	67	49				
CELSR3	1951	broad.mit.edu	37	3	48686273	48686273	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:48686273G>A	ENST00000164024.4	-	18	6936	c.6656C>T	c.(6655-6657)aCt>aTt	p.T2219I	CELSR3_ENST00000544264.1_Missense_Mutation_p.T2224I	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2219					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGTGGTCAGTGTGGCCAGT	0.597																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(6670-6672)aCt>aTt		cadherin, EGF LAG seven-pass G-type receptor 3							78.0	66.0	70.0					3																	48686273		2203	4299	6502	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48686273G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6656C>T	3.37:g.48686273G>A	ENSP00000164024:p.Thr2219Ile					CELSR3_ENST00000164024.4_Missense_Mutation_p.T2219I	p.T2224I			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	19	6951	-			2219					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.6671C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032278	0.54790	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.10192	2.9;2.9	5.34	2.43	0.29744	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.14787	0.0357	M	0.73217	2.22	0.33806	D	0.627286	B;B	0.27910	0.096;0.193	B;B	0.37943	0.261;0.241	T	0.14727	-1.0462	9	0.59425	D	0.04	.	2.6947	0.05130	0.2114:0.0:0.3479:0.4407	.	2219;2289	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	I	2219;2224	ENSP00000164024:T2219I;ENSP00000445694:T2224I	ENSP00000164024:T2219I	T	-	2	0	CELSR3	48661277	1.000000	0.71417	0.123000	0.21794	0.984000	0.73092	3.941000	0.56607	0.561000	0.29186	0.655000	0.94253	ACT		0.597	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		39	43	0	0	0	1	0	39	43				
UCKL1	54963	broad.mit.edu	37	20	62571740	62571740	+	Silent	SNP	G	G	A	rs573146175	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62571740G>A	ENST00000354216.6	-	13	1443	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	MIR1914_ENST00000607800.1_RNA|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Silent_p.R452R|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.R467R	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	467					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAGGAGCACGCGCACTGCCA	0.632													G|||	6	0.00119808	0.0	0.0	5008	,	,		16675	0.0		0.0	False		,,,				2504	0.0061					ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1354-1356)cgC>cgT		uridine-cytidine kinase 1-like 1							56.0	51.0	52.0					20																	62571740		2196	4298	6494	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62571740G>A	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1401C>T	20.37:g.62571740G>A						UCKL1_ENST00000369892.3_Silent_p.R467R|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000354216.6_Silent_p.R467R	p.R452R	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN			13	1655	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		467					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.1356C>T	CCDS13547.1																																																																																				0.632	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		18	42	0	0	0	1	0	18	42				
SPIN1	10927	broad.mit.edu	37	9	91083304	91083304	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:91083304G>A	ENST00000375859.3	+	5	651	c.373G>A	c.(373-375)Gat>Aat	p.D125N	SPIN1_ENST00000541629.1_Missense_Mutation_p.D125N|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	125					chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TCGAATCAGCGATGCACACTT	0.413																																						ENST00000375859.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(373-375)Gat>Aat		spindlin 1							127.0	119.0	122.0					9																	91083304		2171	4287	6458	SO:0001583	missense	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91083304G>A	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"""spindlin"""	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.373G>A	9.37:g.91083304G>A	ENSP00000365019:p.Asp125Asn					SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.D125N	p.D125N	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN			5	651	+			125					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Missense_Mutation	SNP	ENST00000375859.3	37	c.373G>A	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624312	0.87560	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.50813	0.73;0.73	5.12	3.29	0.37713	.	0.143281	0.47852	D	0.000209	T	0.44138	0.1279	L	0.59436	1.845	0.53005	D	0.999964	D	0.58970	0.984	B	0.42361	0.385	T	0.48031	-0.9070	10	0.87932	D	0	-7.9616	11.0915	0.48119	0.1484:0.0:0.8516:0.0	.	125	Q9Y657	SPIN1_HUMAN	N	125	ENSP00000365019:D125N;ENSP00000441864:D125N	ENSP00000365019:D125N	D	+	1	0	SPIN1	90273124	1.000000	0.71417	0.754000	0.31244	0.980000	0.70556	9.155000	0.94700	0.750000	0.32877	0.655000	0.94253	GAT		0.413	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		23	31	0	0	0	1	0	23	31				
BCL2L1	598	broad.mit.edu	37	20	30253853	30253853	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:30253853C>T	ENST00000307677.4	-	3	1011	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	BCL2L1_ENST00000420653.1_Missense_Mutation_p.A201T|BCL2L1_ENST00000376062.2_Missense_Mutation_p.A201T|BCL2L1_ENST00000376055.4_Missense_Mutation_p.A138T	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	201					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CGGCTCTCGGCTGCTGCATTG	0.557																																					Colon(51;693 1004 1401 20431 21026)	ENST00000307677.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(601-603)Gcc>Acc		BCL2-like 1							99.0	87.0	91.0					20																	30253853		2203	4300	6503	SO:0001583	missense	598				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	g.chr20:30253853C>T	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.601G>A	20.37:g.30253853C>T	ENSP00000302564:p.Ala201Thr					BCL2L1_ENST00000420653.1_Missense_Mutation_p.A201T|BCL2L1_ENST00000376055.4_Missense_Mutation_p.A138T|BCL2L1_ENST00000376062.2_Missense_Mutation_p.A201T	p.A201T	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		3	1011	-	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		201					E1P5L6|Q5CZ89|Q5TE65|Q92976	Missense_Mutation	SNP	ENST00000307677.4	37	c.601G>A	CCDS13189.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153295	0.57259	.	.	ENSG00000171552	ENST00000376062;ENST00000376055;ENST00000307677;ENST00000420653;ENST00000450273	T;T;T;T;T	0.65549	3.51;-0.16;3.51;3.51;3.51	5.02	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.65975	2.015	0.52501	D	0.999956	B;B	0.32338	0.365;0.007	B;B	0.20577	0.03;0.009	T	0.60717	-0.7208	10	0.87932	D	0	0.4574	10.6189	0.45467	0.1916:0.8084:0.0:0.0	.	138;201	Q5TE63;Q07817	.;B2CL1_HUMAN	T	201;138;201;201;201	ENSP00000365230:A201T;ENSP00000365223:A138T;ENSP00000302564:A201T;ENSP00000405563:A201T;ENSP00000406203:A201T	ENSP00000302564:A201T	A	-	1	0	BCL2L1	29717514	1.000000	0.71417	0.958000	0.39756	0.974000	0.67602	5.848000	0.69458	1.308000	0.44962	0.555000	0.69702	GCC		0.557	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578		38	110	0	0	0	1	0	38	110				
SYBU	55638	broad.mit.edu	37	8	110587865	110587865	+	Missense_Mutation	SNP	G	G	A	rs199889456	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:110587865G>A	ENST00000422135.1	-	8	1777	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	SYBU_ENST00000424158.2_Missense_Mutation_p.T426M|SYBU_ENST00000533065.1_Missense_Mutation_p.T302M|SYBU_ENST00000528331.1_Missense_Mutation_p.T302M|SYBU_ENST00000533895.1_Missense_Mutation_p.T420M|SYBU_ENST00000529690.1_Missense_Mutation_p.T291M|SYBU_ENST00000446070.2_Missense_Mutation_p.T420M|SYBU_ENST00000529175.1_Missense_Mutation_p.T215M|SYBU_ENST00000433638.1_Missense_Mutation_p.T421M|SYBU_ENST00000532779.1_Missense_Mutation_p.T353M|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000440310.1_Missense_Mutation_p.T421M|SYBU_ENST00000408889.3_Missense_Mutation_p.T302M|SYBU_ENST00000276646.9_Missense_Mutation_p.T421M|SYBU_ENST00000528647.1_Missense_Mutation_p.T420M|SYBU_ENST00000419099.1_Missense_Mutation_p.T420M|SYBU_ENST00000399066.3_Missense_Mutation_p.T418M|SYBU_ENST00000533171.1_Missense_Mutation_p.T421M|SYBU_ENST00000408908.2_Missense_Mutation_p.T421M	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	421					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCCTTCCCCCGTGACCTGCTC	0.522													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		18934	0.0		0.0	False		,,,				2504	0.0					ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(1252-1254)aCg>aTg		syntabulin (syntaxin-interacting)		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	14,3930		0,14,1958	113.0	113.0	113.0		1259,1262,1262,905,1259,1262,905,1262,1259,1262,1259,1262,905,1253,1259	-1.6	0.0	8		113	0,8300		0,0,4150	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	SYBU	NM_001099743.1,NM_001099744.1,NM_001099745.1,NM_001099746.1,NM_001099747.1,NM_001099748.1,NM_001099749.1,NM_001099750.1,NM_001099751.1,NM_001099752.1,NM_001099753.1,NM_001099754.1,NM_001099755.1,NM_001099756.1,NM_017786.5	81,81,81,81,81,81,81,81,81,81,81,81,81,81,81	0,14,6108	AA,AG,GG		0.0,0.355,0.1143	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	420/663,421/664,421/664,302/545,420/663,421/664,302/545,421/664,420/663,421/664,420/663,421/664,302/545,418/661,420/663	110587865	14,12230	1972	4150	6122	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110587865G>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1262C>T	8.37:g.110587865G>A	ENSP00000407118:p.Thr421Met					SYBU_ENST00000446070.2_Missense_Mutation_p.T420M|SYBU_ENST00000433638.1_Missense_Mutation_p.T421M|SYBU_ENST00000529175.1_Missense_Mutation_p.T215M|SYBU_ENST00000408908.2_Missense_Mutation_p.T421M|SYBU_ENST00000440310.1_Missense_Mutation_p.T421M|SYBU_ENST00000408889.3_Missense_Mutation_p.T302M|SYBU_ENST00000422135.1_Missense_Mutation_p.T421M|SYBU_ENST00000533895.1_Missense_Mutation_p.T420M|SYBU_ENST00000528647.1_Missense_Mutation_p.T420M|SYBU_ENST00000419099.1_Missense_Mutation_p.T420M|SYBU_ENST00000533171.1_Missense_Mutation_p.T421M|SYBU_ENST00000276646.9_Missense_Mutation_p.T421M|SYBU_ENST00000528331.1_Missense_Mutation_p.T302M|SYBU_ENST00000424158.2_Missense_Mutation_p.T426M|SYBU_ENST00000532779.1_Missense_Mutation_p.T353M|SYBU_ENST00000529690.1_Missense_Mutation_p.T291M|SYBU_ENST00000533065.1_Missense_Mutation_p.T302M	p.T418M	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN			6	1980	-			421					A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.1253C>T	CCDS47912.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	4.110	0.018508	0.07959	0.00355	0.0	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.92	-1.56	0.08532	.	0.905228	0.09834	N	0.749777	T	0.25082	0.0609	L	0.36672	1.1	0.09310	N	1	B;B;P;B;B	0.41214	0.18;0.053;0.742;0.079;0.079	B;B;B;B;B	0.38880	0.023;0.006;0.284;0.014;0.014	T	0.18304	-1.0341	9	0.38643	T	0.18	0.4063	7.7195	0.28723	0.4645:0.1078:0.4276:0.0	.	291;353;420;421;418	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	M	420;426;353;418;420;302;215;421;420;421;420;421;421;421;302;302;291;421	.	ENSP00000276646:T421M	T	-	2	0	SYBU	110657041	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.162000	0.16501	-0.049000	0.13379	-1.320000	0.01293	ACG		0.522	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		22	113	0	0	0	1	0	22	113				
PPFIA4	8497	broad.mit.edu	37	1	203025953	203025953	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:203025953G>A	ENST00000447715.2	+	24	2657	c.2216G>A	c.(2215-2217)aGc>aAc	p.S739N	PPFIA4_ENST00000599966.1_Missense_Mutation_p.S255N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S255N|PPFIA4_ENST00000367240.2_Missense_Mutation_p.S740N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S255N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S468N			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	739					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCAGCAACAGCAGCCAGGAC	0.582																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2218-2220)aGc>aAc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							26.0	30.0	29.0					1																	203025953		2174	4287	6461	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203025953G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2216G>A	1.37:g.203025953G>A	ENSP00000402576:p.Ser739Asn					PPFIA4_ENST00000599966.1_Missense_Mutation_p.S255N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S468N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S255N|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S739N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S255N	p.S740N			O75335	LIPA4_HUMAN			18	2746	+			255					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.2219G>A		.	.	.	.	.	.	.	.	.	.	g	33	5.203271	0.95033	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	4.94	4.94	0.65067	.	0.000000	0.53938	D	0.000045	T	0.35941	0.0949	M	0.71036	2.16	0.51233	D	0.999916	B;P;B;B	0.37423	0.098;0.594;0.09;0.054	B;B;B;B	0.41412	0.109;0.356;0.101;0.047	T	0.10683	-1.0619	10	0.28530	T	0.3	-25.4324	18.3651	0.90388	0.0:0.0:1.0:0.0	.	468;739;255;255	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	N	740;739;255;468;255	ENSP00000356209:S740N;ENSP00000402576:S739N;ENSP00000295706:S255N;ENSP00000400379:S468N;ENSP00000272198:S255N	ENSP00000272198:S255N	S	+	2	0	PPFIA4	201292576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.166000	0.77553	2.556000	0.86216	0.556000	0.70494	AGC		0.582	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		12	14	0	0	0	1	0	12	14				
AGPAT9	84803	broad.mit.edu	37	4	84502845	84502845	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:84502845C>T	ENST00000395226.2	+	4	557	c.339C>T	c.(337-339)acC>acT	p.T113T	AGPAT9_ENST00000264409.4_Silent_p.T113T	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	113					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				ATGAAGTGACCCAGAGGTTTT	0.468																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(337-339)acC>acT		1-acylglycerol-3-phosphate O-acyltransferase 9							184.0	177.0	180.0					4																	84502845		2203	4300	6503	SO:0001819	synonymous_variant	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84502845C>T	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.339C>T	4.37:g.84502845C>T						AGPAT9_ENST00000264409.4_Silent_p.T113T	p.T113T	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN			4	557	+		Hepatocellular(203;0.114)	113					Q68CJ4|Q6GPI6|Q96NA3	Silent	SNP	ENST00000395226.2	37	c.339C>T	CCDS3606.1																																																																																				0.468	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		59	102	0	0	0	1	0	59	102				
IL17REL	400935	broad.mit.edu	37	22	50436618	50436618	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:50436618G>A	ENST00000389983.2	-	10	986	c.722C>T	c.(721-723)cCg>cTg	p.P241L	IL17REL_ENST00000341280.5_Missense_Mutation_p.P241L	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	241										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		gccggcccccggccccgggcg	0.682																																						ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(721-723)cCg>cTg		interleukin 17 receptor E-like							28.0	36.0	33.0					22																	50436618		2200	4292	6492	SO:0001583	missense	400935							g.chr22:50436618G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.722C>T	22.37:g.50436618G>A	ENSP00000374633:p.Pro241Leu					IL17REL_ENST00000341280.5_Missense_Mutation_p.P241L	p.P241L	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	10	986	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	241					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.722C>T	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	G	2.251	-0.371605	0.05034	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.13420	2.59;2.59	3.05	1.91	0.25777	.	0.807764	0.10782	U	0.634719	T	0.10337	0.0253	L	0.43152	1.355	0.09310	N	1	B	0.27971	0.196	B	0.16722	0.016	T	0.22243	-1.0222	10	0.52906	T	0.07	.	4.3762	0.11272	0.2037:0.0:0.7963:0.0	.	241	Q6ZVW7	I17EL_HUMAN	L	241	ENSP00000374633:P241L;ENSP00000342520:P241L	ENSP00000342520:P241L	P	-	2	0	IL17REL	48778745	0.031000	0.19500	0.008000	0.14137	0.004000	0.04260	1.429000	0.34903	1.543000	0.49345	0.561000	0.74099	CCG		0.682	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		47	51	0	0	0	1	0	47	51				
XYLT1	64131	broad.mit.edu	37	16	17228506	17228506	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:17228506G>A	ENST00000261381.6	-	9	1935	c.1851C>T	c.(1849-1851)taC>taT	p.Y617Y	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	617					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTAGTTCCCGTACAGGTAAT	0.572																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1849-1851)taC>taT		xylosyltransferase I							134.0	131.0	132.0					16																	17228506		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17228506G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1851C>T	16.37:g.17228506G>A						CTD-2576D5.4_ENST00000567344.1_RNA	p.Y617Y	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			9	1935	-			617					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.1851C>T	CCDS10569.1																																																																																				0.572	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		84	108	0	0	0	1	0	84	108				
OR8H3	390152	broad.mit.edu	37	11	55890694	55890694	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:55890694T>C	ENST00000313472.3	+	1	846	c.846T>C	c.(844-846)atT>atC	p.I282I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTATTGTGATTCCCATGCTGA	0.368																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(844-846)atT>atC		olfactory receptor, family 8, subfamily H, member 3							103.0	106.0	105.0					11																	55890694		2201	4296	6497	SO:0001819	synonymous_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890694T>C	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.846T>C	11.37:g.55890694T>C							p.I282I	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	846	+	Esophageal squamous(21;0.00693)		282					Q6IFB7	Silent	SNP	ENST00000313472.3	37	c.846T>C	CCDS31519.1																																																																																				0.368	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		46	69	0	0	0	1	0	46	69				
PLEKHA8	84725	broad.mit.edu	37	7	30085829	30085829	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:30085829A>G	ENST00000449726.1	+	3	511	c.161A>G	c.(160-162)cAt>cGt	p.H54R	PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.H54R|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.H54R|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.H54R	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	54	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CTCCCAGTTCATTCTGTAGAT	0.512																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(160-162)cAt>cGt		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							95.0	93.0	93.0					7																	30085829		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30085829A>G	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.161A>G	7.37:g.30085829A>G	ENSP00000397947:p.His54Arg					PLEKHA8_ENST00000396257.2_Missense_Mutation_p.H54R|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.H54R|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.H54R|PLEKHA8_ENST00000483799.1_3'UTR	p.H54R	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			3	511	+			54			PH.		B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.161A>G	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423982	0.83667	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.42	5.42	0.78866	.	0.175908	0.49305	D	0.000143	D	0.84817	0.5556	M	0.71920	2.185	0.80722	D	1	D;D;D	0.69078	0.997;0.992;0.994	D;P;D	0.81914	0.995;0.854;0.929	D	0.86528	0.1820	10	0.72032	D	0.01	.	14.2995	0.66336	1.0:0.0:0.0:0.0	.	54;54;54	Q96JA3-2;Q96JA3-3;B4DH00	.;.;.	R	54;54;54;54;80	ENSP00000258679:H54R;ENSP00000397947:H54R;ENSP00000379556:H54R;ENSP00000379558:H54R;ENSP00000407802:H80R	ENSP00000258679:H54R	H	+	2	0	PLEKHA8	30052354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.307000	0.96226	2.052000	0.61016	0.533000	0.62120	CAT		0.512	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		49	80	0	0	0	1	0	49	80				
PNPLA6	10908	broad.mit.edu	37	19	7623913	7623913	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:7623913G>A	ENST00000221249.6	+	31	3892	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1127H|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1154H|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1202H|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1192H	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1193					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCCAGTCCCGCCTGGCCTAC	0.607																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(3460-3462)cGc>cAc		patatin-like phospholipase domain containing 6							84.0	64.0	71.0					19																	7623913		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7623913G>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3461G>A	19.37:g.7623913G>A	ENSP00000221249:p.Arg1154His					PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1192H|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1127H|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1202H|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1154H	p.R1154H	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			31	3892	+			1193					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3461G>A	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	29.0	4.971269	0.92919	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	4.78	4.78	0.61160	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.058982	0.64402	D	0.000001	T	0.67720	0.2923	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.972;0.999;0.999	T	0.76708	-0.2860	10	0.87932	D	0	-26.932	15.3194	0.74109	0.0:0.0:1.0:0.0	.	1193;1127;1192;1154	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	H	1154;1127;1202;1154	ENSP00000221249:R1154H;ENSP00000443323:R1127H;ENSP00000407509:R1202H;ENSP00000394348:R1154H	ENSP00000221249:R1154H	R	+	2	0	PNPLA6	7529913	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.209000	0.71365	0.561000	0.74099	CGC		0.607	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		31	40	0	0	0	1	0	31	40				
LIN9	286826	broad.mit.edu	37	1	226453981	226453981	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:226453981C>A	ENST00000328205.5	-	9	1462	c.917G>T	c.(916-918)cGg>cTg	p.R306L	LIN9_ENST00000481685.1_Missense_Mutation_p.R271L|LIN9_ENST00000366801.1_Missense_Mutation_p.R255L	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	290					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TCGAGAAGGCCGCTGTTTTTG	0.338																																					Ovarian(197;1696 2974 11248 14117)	ENST00000328205.5																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(916-918)cGg>cTg		lin-9 homolog (C. elegans)							61.0	62.0	62.0					1																	226453981		2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226453981C>A	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.917G>T	1.37:g.226453981C>A	ENSP00000329102:p.Arg306Leu					LIN9_ENST00000481685.1_Missense_Mutation_p.R271L|LIN9_ENST00000366801.1_Missense_Mutation_p.R255L	p.R306L	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	9	1462	-	Breast(184;0.158)		290					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.917G>T	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505774	0.64410	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.59	4.68	0.58851	.	0.054512	0.64402	D	0.000001	T	0.78413	0.4279	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.956;0.99;0.993	T	0.79794	-0.1653	9	0.46703	T	0.11	.	14.4975	0.67700	0.0:0.9297:0.0:0.0703	.	271;290;440	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	L	266;306;361;255;271;440	.	ENSP00000329102:R306L	R	-	2	0	LIN9	224520604	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	6.795000	0.75140	1.381000	0.46364	-0.258000	0.10820	CGG		0.338	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		15	11	1	0	0.000308642	1	0.000313286	15	11				
NFAT5	10725	broad.mit.edu	37	16	69726657	69726657	+	Missense_Mutation	SNP	C	C	T	rs369476982		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:69726657C>T	ENST00000354436.2	+	12	3193	c.2875C>T	c.(2875-2877)Cct>Tct	p.P959S	NFAT5_ENST00000567239.1_Missense_Mutation_p.P976S|NFAT5_ENST00000432919.1_Missense_Mutation_p.P977S|NFAT5_ENST00000566899.1_Missense_Mutation_p.P883S|NFAT5_ENST00000393742.2_Missense_Mutation_p.P883S|NFAT5_ENST00000349945.1_Missense_Mutation_p.P883S	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	959					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTTCTCCTCCTGCAGTTTC	0.448																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2647-2649)Cct>Tct		nuclear factor of activated T-cells 5, tonicity-responsive		C	SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO	0,4396		0,0,2198	124.0	106.0	112.0		2926,2875,2929,2647,2647	4.5	1.0	16		112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NFAT5	NM_001113178.2,NM_006599.3,NM_138713.3,NM_138714.3,NM_173214.2	74,74,74,74,74	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	976/1549,959/1532,977/1550,883/1456,883/1456	69726657	1,12995	2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726657C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2875C>T	16.37:g.69726657C>T	ENSP00000346420:p.Pro959Ser					NFAT5_ENST00000393742.2_Missense_Mutation_p.P883S|NFAT5_ENST00000567239.1_Missense_Mutation_p.P976S|NFAT5_ENST00000354436.2_Missense_Mutation_p.P959S|NFAT5_ENST00000566899.1_Missense_Mutation_p.P883S|NFAT5_ENST00000432919.1_Missense_Mutation_p.P977S	p.P883S	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	4199	+			959			Poly-Gln.		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.2647C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	6.409	0.443509	0.12164	0.0	1.16E-4	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.49	4.54	0.55810	.	0.192835	0.46758	D	0.000269	T	0.35335	0.0928	L	0.51422	1.61	0.38215	D	0.940595	B;B;B	0.18610	0.029;0.012;0.0	B;B;B	0.18871	0.023;0.009;0.001	T	0.22626	-1.0211	10	0.16420	T	0.52	-3.4444	12.1136	0.53854	0.0:0.9205:0.0:0.0795	.	976;959;977	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	S	977;976;883;959;883	ENSP00000396538:P977S;ENSP00000338806:P883S;ENSP00000346420:P959S;ENSP00000377343:P883S	ENSP00000338806:P883S	P	+	1	0	NFAT5	68284158	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	1.447000	0.35101	1.448000	0.47680	0.655000	0.94253	CCT		0.448	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		38	54	0	0	0	1	0	38	54				
LRRC8A	56262	broad.mit.edu	37	9	131670971	131670971	+	Silent	SNP	C	C	T	rs368625725		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:131670971C>T	ENST00000259324.5	+	3	2051	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L	LRRC8A_ENST00000372599.3_Silent_p.L510L|LRRC8A_ENST00000372600.4_Silent_p.L510L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	510					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GGAGATCCCGCTGTGGATCTA	0.612																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1528-1530)Ctg>Ttg		leucine rich repeat containing 8 family, member A		C	,,	2,4404	4.2+/-10.8	0,2,2201	37.0	35.0	35.0		1528,1528,1528	4.8	1.0	9		35	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	LRRC8A	NM_001127244.1,NM_001127245.1,NM_019594.3	,,	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	,,	510/811,510/811,510/811	131670971	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670971C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1528C>T	9.37:g.131670971C>T						LRRC8A_ENST00000372600.4_Silent_p.L510L|LRRC8A_ENST00000372599.3_Silent_p.L510L	p.L510L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	2051	+			510					Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.1528C>T	CCDS35155.1																																																																																				0.612	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		24	28	0	0	0	1	0	24	28				
PITPNM1	9600	broad.mit.edu	37	11	67261432	67261432	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:67261432G>A	ENST00000534749.1	-	19	3157	c.2969C>T	c.(2968-2970)gCg>gTg	p.A990V	PITPNM1_ENST00000356404.3_Missense_Mutation_p.A990V|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A989V|PITPNM1_ENST00000526450.1_5'UTR			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	990					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AATGCCCAGCGCGCGTTCTGG	0.682																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(2968-2970)gCg>gTg		phosphatidylinositol transfer protein, membrane-associated 1							37.0	34.0	35.0					11																	67261432		2196	4293	6489	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67261432G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2969C>T	11.37:g.67261432G>A	ENSP00000437286:p.Ala990Val					PITPNM1_ENST00000534749.1_Missense_Mutation_p.A990V|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A989V|PITPNM1_ENST00000526450.1_5'UTR	p.A990V	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			20	3194	-			990					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.2969C>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	8.513	0.867060	0.17250	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.44083	0.93;0.93;0.93	4.02	4.02	0.46733	.	0.319862	0.21593	N	0.072078	T	0.27697	0.0681	L	0.38175	1.15	0.09310	N	1	P;P	0.44139	0.827;0.685	B;B	0.33750	0.169;0.06	T	0.15694	-1.0428	10	0.32370	T	0.25	-23.5603	11.2281	0.48897	0.0:0.1865:0.8135:0.0	.	989;990	O00562-2;O00562	.;PITM1_HUMAN	V	990;989;990	ENSP00000437286:A990V;ENSP00000398787:A989V;ENSP00000348772:A990V	ENSP00000348772:A990V	A	-	2	0	PITPNM1	67018008	0.000000	0.05858	0.365000	0.25901	0.037000	0.13140	1.094000	0.30951	1.966000	0.57179	0.305000	0.20034	GCG		0.682	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		28	21	0	0	0	1	0	28	21				
PTPRM	5797	broad.mit.edu	37	18	8114820	8114820	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:8114820C>T	ENST00000332175.8	+	13	3199	c.2162C>T	c.(2161-2163)aCa>aTa	p.T721I	PTPRM_ENST00000400053.4_Missense_Mutation_p.T659I|PTPRM_ENST00000444013.1_Missense_Mutation_p.T508I|PTPRM_ENST00000400060.4_Missense_Mutation_p.T721I|PTPRM_ENST00000580170.1_Missense_Mutation_p.T721I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	721					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAAGTGGCCACAAAAGGTAGG	0.299																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2161-2163)aCa>aTa		protein tyrosine phosphatase, receptor type, M							64.0	68.0	67.0					18																	8114820		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8114820C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2162C>T	18.37:g.8114820C>T	ENSP00000331418:p.Thr721Ile					PTPRM_ENST00000400053.4_Missense_Mutation_p.T659I|PTPRM_ENST00000444013.1_Missense_Mutation_p.T508I|PTPRM_ENST00000400060.4_Missense_Mutation_p.T721I|PTPRM_ENST00000580170.1_Missense_Mutation_p.T721I	p.T721I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			13	3199	+		Colorectal(10;0.234)	721					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.2162C>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954037	0.92660	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.49720	1.12;1.1;0.93;0.77	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.70275	2.135	0.80722	D	1	P;D;D	0.71674	0.935;0.998;0.998	P;D;D	0.76071	0.598;0.987;0.987	T	0.66228	-0.5976	10	0.44086	T	0.13	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	508;721;721	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	I	721;721;659;508	ENSP00000331418:T721I;ENSP00000382933:T721I;ENSP00000382927:T659I;ENSP00000387608:T508I	ENSP00000331418:T721I	T	+	2	0	PTPRM	8104820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.884000	0.98904	0.655000	0.94253	ACA		0.299	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			19	15	0	0	0	1	0	19	15				
DBNL	28988	broad.mit.edu	37	7	44098476	44098476	+	Intron	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:44098476G>T	ENST00000448521.1	+	9	851				DBNL_ENST00000452943.1_Intron|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000497184.1_Intron|DBNL_ENST00000468694.1_Splice_Site|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000494774.1_Intron|DBNL_ENST00000490734.2_Intron	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GCCCACTGCAGGGGTCAACAT	0.602																																					NSCLC(68;573 1327 18604 34760 37992)	ENST00000468694.1																			0				breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						c.e9-1		drebrin-like							81.0	73.0	76.0					7																	44098476		2203	4300	6503	SO:0001627	intron_variant	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44098476G>T	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.754-25G>T	7.37:g.44098476G>T						DBNL_ENST00000497184.1_Intron|DBNL_ENST00000452943.1_Intron|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000490734.2_Intron|DBNL_ENST00000448521.1_Intron|DBNL_ENST00000494774.1_Intron		NM_001122956.1	NP_001116428.1	Q9UJU6	DBNL_HUMAN			9	783	+								A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Splice_Site	SNP	ENST00000448521.1	37		CCDS34623.1	.	.	.	.	.	.	.	.	.	.	G	0.731	-0.779789	0.02929	.	.	ENSG00000136279	ENST00000468694	.	.	.	5.26	-4.41	0.03590	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.506	0.02486	0.3671:0.2048:0.3072:0.1209	.	.	.	.	.	-1	.	.	.	+	.	.	DBNL	44065001	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.148000	0.10219	-0.469000	0.06911	-1.605000	0.00808	.		0.602	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		22	20	1	0	8.10497e-08	1	8.47206e-08	22	20				
LPAL2	80350	broad.mit.edu	37	6	160905191	160905191	+	RNA	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:160905191T>C	ENST00000335388.5	-	0	936					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CAGGTTGCAGTACTCCCATCT	0.502																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5																																														0							g.chr6:160905191T>C	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160905191T>C								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	936	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.502	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		79	49	0	0	0	1	0	79	49				
SHANK1	50944	broad.mit.edu	37	19	51217078	51217078	+	Missense_Mutation	SNP	C	C	T	rs138468869		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:51217078C>T	ENST00000293441.1	-	5	787	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	SHANK1_ENST00000359082.3_Missense_Mutation_p.A257T|SHANK1_ENST00000391814.1_Missense_Mutation_p.A257T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	257					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAGTGTCGGGCGCATGCGGCC	0.627																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(769-771)Gcc>Acc		SH3 and multiple ankyrin repeat domains 1		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	40.0	46.0	44.0		769	4.5	0.8	19	dbSNP_134	44	0,8600		0,0,4300	no	missense	SHANK1	NM_016148.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	257/2162	51217078	1,13005	2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51217078C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.769G>A	19.37:g.51217078C>T	ENSP00000293441:p.Ala257Thr					SHANK1_ENST00000391814.1_Missense_Mutation_p.A257T|SHANK1_ENST00000359082.3_Missense_Mutation_p.A257T	p.A257T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	5	787	-		all_neural(266;0.057)	257					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.769G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953638	0.73902	2.27E-4	0.0	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.65732	-0.17;-0.17;-0.17	4.52	4.52	0.55395	Ankyrin repeat-containing domain (4);	0.219503	0.27319	U	0.019910	T	0.50735	0.1633	N	0.21448	0.665	0.42134	D	0.991483	D	0.55172	0.97	P	0.46208	0.507	T	0.48410	-0.9038	10	0.30078	T	0.28	-7.9998	12.6343	0.56675	0.1665:0.8335:0.0:0.0	.	257	Q9Y566	SHAN1_HUMAN	T	257	ENSP00000293441:A257T;ENSP00000351984:A257T;ENSP00000375690:A257T	ENSP00000293441:A257T	A	-	1	0	SHANK1	55908890	0.438000	0.25602	0.803000	0.32268	0.974000	0.67602	1.021000	0.30040	2.459000	0.83118	0.561000	0.74099	GCC		0.627	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		42	56	0	0	0	1	0	42	56				
FGF12	2257	broad.mit.edu	37	3	192053197	192053197	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:192053197C>T	ENST00000454309.2	-	3	1192	c.367G>A	c.(367-369)Gct>Act	p.A123T	FGF12_ENST00000430714.1_Missense_Mutation_p.A24T|FGF12_ENST00000450716.1_Missense_Mutation_p.A61T|FGF12_ENST00000445105.2_Missense_Mutation_p.A61T|FGF12_ENST00000264730.3_Missense_Mutation_p.A61T	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	123					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TAGAGGCTAGCCTTCACTCCT	0.478																																						ENST00000454309.2																			0				endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(367-369)Gct>Act		fibroblast growth factor 12							103.0	87.0	92.0					3																	192053197		2203	4300	6503	SO:0001583	missense	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:192053197C>T	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.367G>A	3.37:g.192053197C>T	ENSP00000413496:p.Ala123Thr					FGF12_ENST00000264730.3_Missense_Mutation_p.A61T|FGF12_ENST00000445105.1_Missense_Mutation_p.A61T|FGF12_ENST00000450716.1_Missense_Mutation_p.A61T|FGF12_ENST00000430714.1_Missense_Mutation_p.A24T	p.A123T	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	3	1192	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	123					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	c.367G>A	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	6.758	0.508630	0.12883	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000450716;ENST00000430714;ENST00000448795;ENST00000418610	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.51	5.51	0.81932	.	0.230009	0.43579	D	0.000547	T	0.32704	0.0838	N	0.01505	-0.83	0.49798	D	0.999821	B;B	0.09022	0.002;0.001	B;B	0.12837	0.005;0.008	T	0.41610	-0.9499	10	0.02654	T	1	.	16.9208	0.86164	0.0:1.0:0.0:0.0	.	61;123	P61328-2;P61328	.;FGF12_HUMAN	T	61;61;61;123;61;24;37;61	ENSP00000264730:A61T;ENSP00000393686:A61T;ENSP00000413496:A123T;ENSP00000397635:A61T;ENSP00000410125:A24T;ENSP00000412904:A37T;ENSP00000395517:A61T	ENSP00000264730:A61T	A	-	1	0	FGF12	193535891	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.092000	0.41700	2.573000	0.86826	0.655000	0.94253	GCT		0.478	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		15	36	0	0	0	1	0	15	36				
KIAA1683	80726	broad.mit.edu	37	19	18378026	18378026	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:18378026C>T	ENST00000600328.3	-	3	517	c.324G>A	c.(322-324)acG>acA	p.T108T	KIAA1683_ENST00000600359.3_Silent_p.T62T|KIAA1683_ENST00000392413.4_Silent_p.T108T			Q9H0B3	K1683_HUMAN	KIAA1683	108	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.T108T(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGGATGAGCGTGGCTGCAC	0.637																																						ENST00000392413.3																			1	Substitution - coding silent(1)	p.T108T(1)	large_intestine(1)	breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(322-324)acG>acA		KIAA1683							70.0	68.0	69.0					19																	18378026		2203	4300	6503	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18378026C>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.324G>A	19.37:g.18378026C>T						KIAA1683_ENST00000600328.2_Silent_p.T108T|KIAA1683_ENST00000600359.2_Silent_p.T62T	p.T108T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	539	-			108			IQ 1.		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.324G>A	CCDS32958.1																																																																																				0.637	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			56	70	0	0	0	1	0	56	70				
CCNB3	85417	broad.mit.edu	37	X	50085296	50085296	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:50085296A>G	ENST00000376042.1	+	9	3910	c.3612A>G	c.(3610-3612)caA>caG	p.Q1204Q	CCNB3_ENST00000348603.2_Silent_p.Q100Q|CCNB3_ENST00000276014.7_Silent_p.Q1204Q|CCNB3_ENST00000376038.1_Silent_p.Q100Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	1204					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATAAGTTACAACTCCTTGGTG	0.468																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3610-3612)caA>caG		cyclin B3							191.0	145.0	160.0					X																	50085296		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50085296A>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3612A>G	X.37:g.50085296A>G						CCNB3_ENST00000348603.2_Silent_p.Q100Q|CCNB3_ENST00000376038.1_Silent_p.Q100Q|CCNB3_ENST00000276014.7_Silent_p.Q1204Q	p.Q1204Q			Q8WWL7	CCNB3_HUMAN			9	3910	+	Ovarian(276;0.236)		1204					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.3612A>G	CCDS14331.1																																																																																				0.468	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			43	62	0	0	0	1	0	43	62				
MYD88	4615	broad.mit.edu	37	3	38182689	38182689	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:38182689T>C	ENST00000396334.3	+	5	1026	c.842T>C	c.(841-843)cTg>cCg	p.L281P	MYD88_ENST00000443433.2_3'UTR|MYD88_ENST00000417037.2_Missense_Mutation_p.L289P|MYD88_ENST00000424893.1_Missense_Mutation_p.L236P|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000495303.1_3'UTR	NM_002468.4	NP_002459.2	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	268	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCAGCATCCTGAGGTTCATC	0.552			Mis		ABC-DLBCL																																	ENST00000417037.2				Dom	yes		3	3p22	4615	Mis	myeloid differentiation primary response gene (88)			L			ABC-DLBCL		0				breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237						c.(865-867)cTg>cCg		myeloid differentiation primary response 88							212.0	170.0	184.0					3																	38182689		2203	4300	6503	SO:0001583	missense	4615				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	g.chr3:38182689T>C	U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"""myeloid differentiation primary response gene (88)"""			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000396334.3:c.842T>C	3.37:g.38182689T>C	ENSP00000379625:p.Leu281Pro					MYD88_ENST00000443433.2_3'UTR|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000424893.1_Missense_Mutation_p.L236P|MYD88_ENST00000396334.3_Missense_Mutation_p.L281P|MYD88_ENST00000495303.1_3'UTR	p.L289P	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	5	1050	+			268			TIR.		B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Missense_Mutation	SNP	ENST00000396334.3	37	c.866T>C	CCDS2674.2	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700817	0.88924	.	.	ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.52	5.52	0.82312	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000001	T	0.37705	0.1013	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.46830	-0.9163	10	0.87932	D	0	-18.3693	15.1365	0.72572	0.0:0.0:0.0:1.0	.	223;268;257	Q99836-2;Q99836;B4E3D6	.;MYD88_HUMAN;.	P	289;281;236;288;257	ENSP00000401399:L289P;ENSP00000379625:L281P;ENSP00000389979:L236P;ENSP00000391753:L288P	ENSP00000379625:L281P	L	+	2	0	MYD88	38157693	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.639000	0.83342	2.233000	0.73108	0.533000	0.62120	CTG		0.552	MYD88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253743.4	NM_002468		61	80	0	0	0	1	0	61	80				
HPS5	11234	broad.mit.edu	37	11	18301454	18301454	+	Missense_Mutation	SNP	C	C	T	rs201017833		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:18301454C>T	ENST00000349215.3	-	23	3642	c.3365G>A	c.(3364-3366)cGg>cAg	p.R1122Q	HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000537258.1_3'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.R1008Q|HPS5_ENST00000396253.3_Missense_Mutation_p.R1008Q	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1122					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAGAGAAACCGATCGCATTT	0.403									Hermansky-Pudlak syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		21309	0.001		0.0	False		,,,				2504	0.0					ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(3022-3024)cGg>cAg		Hermansky-Pudlak syndrome 5							95.0	90.0	92.0					11																	18301454		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18301454C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3365G>A	11.37:g.18301454C>T	ENSP00000265967:p.Arg1122Gln					HPS5_ENST00000537258.1_3'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.R1008Q|HPS5_ENST00000349215.3_Missense_Mutation_p.R1122Q	p.R1008Q	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			22	3485	-			1122					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.3023G>A	CCDS7836.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	24.4	4.526374	0.85600	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.59224	0.28;0.28;0.29	5.55	5.55	0.83447	.	0.058472	0.64402	D	0.000001	T	0.48714	0.1515	N	0.25647	0.755	0.80722	D	1	D	0.58970	0.984	P	0.44477	0.451	T	0.51779	-0.8662	10	0.49607	T	0.09	.	15.0033	0.71492	0.0:1.0:0.0:0.0	.	1122	Q9UPZ3	HPS5_HUMAN	Q	1008;1008;1122	ENSP00000379552:R1008Q;ENSP00000399590:R1008Q;ENSP00000265967:R1122Q	ENSP00000265967:R1122Q	R	-	2	0	HPS5	18258030	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.992000	0.63889	2.600000	0.87896	0.561000	0.74099	CGG		0.403	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		20	34	0	0	0	1	0	20	34				
MAGEA12	4111	broad.mit.edu	37	X	151900216	151900216	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:151900216G>A	ENST00000357916.4	-	2	740	c.585C>T	c.(583-585)atC>atT	p.I195I	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Silent_p.I195I|MAGEA12_ENST00000393869.3_Silent_p.I195I	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	195	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.I195I(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCACGATCTGATTGT	0.577																																						ENST00000393900.3																			1	Substitution - coding silent(1)	p.I195I(1)	lung(1)	breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(583-585)atC>atT		melanoma antigen family A, 12							150.0	143.0	145.0					X																	151900216		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151900216G>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.585C>T	X.37:g.151900216G>A						MAGEA12_ENST00000393869.3_Silent_p.I195I|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.I195I	p.I195I	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	938	-	Acute lymphoblastic leukemia(192;6.56e-05)		195			MAGE.		Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.585C>T	CCDS14710.1																																																																																				0.577	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		99	136	0	0	0	1	0	99	136				
SLC9A3	6550	broad.mit.edu	37	5	476346	476346	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:476346G>A	ENST00000264938.3	-	13	2047	c.2038C>T	c.(2038-2040)Ctg>Ttg	p.L680L	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.L671L	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	680					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCTTGTACAGCTTGGCCGCC	0.647																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(2038-2040)Ctg>Ttg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							57.0	56.0	56.0					5																	476346		2202	4300	6502	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476346G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2038C>T	5.37:g.476346G>A						CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.L671L|CTD-2228K2.7_ENST00000607286.1_RNA	p.L680L	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		13	2047	-			680					B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.2038C>T	CCDS3855.1																																																																																				0.647	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		18	46	0	0	0	1	0	18	46				
ZNF831	128611	broad.mit.edu	37	20	57767907	57767907	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:57767907G>A	ENST00000371030.2	+	1	1833	c.1833G>A	c.(1831-1833)agG>agA	p.R611R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	611							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCAGAGAAGGCTGAAGATGT	0.597																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1831-1833)agG>agA		zinc finger protein 831							52.0	61.0	58.0					20																	57767907		2070	4195	6265	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767907G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1833G>A	20.37:g.57767907G>A							p.R611R	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1833	+	all_lung(29;0.0085)		611					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1833G>A	CCDS42894.1																																																																																				0.597	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		46	141	0	0	0	1	0	46	141				
WWC1	23286	broad.mit.edu	37	5	167882440	167882440	+	Missense_Mutation	SNP	C	C	T	rs375638687		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:167882440C>T	ENST00000265293.4	+	19	3240	c.2738C>T	c.(2737-2739)cCg>cTg	p.P913L	WWC1_ENST00000521089.1_Missense_Mutation_p.P913L|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	913	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GTGGGCACCCCGTCCCAGGGG	0.622																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2737-2739)cCg>cTg		WW and C2 domain containing 1		C	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	101.0	106.0	104.0		2738,2738,2738	4.6	0.3	5		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	913/1120,913/1119,913/1114	167882440	1,13005	2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167882440C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2738C>T	5.37:g.167882440C>T	ENSP00000265293:p.Pro913Leu					WWC1_ENST00000521089.1_Missense_Mutation_p.P913L|WWC1_ENST00000522140.1_3'UTR	p.P913L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	19	3240	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	913			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2738C>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927940	0.34002	0.0	1.16E-4	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.49432	0.78;0.78;0.78	5.46	4.57	0.56435	.	0.257041	0.39834	N	0.001241	T	0.48519	0.1504	L	0.50333	1.59	0.33579	D	0.599642	P;D	0.56287	0.709;0.975	B;P	0.45829	0.131;0.494	T	0.65944	-0.6045	10	0.62326	D	0.03	.	15.4889	0.75590	0.1395:0.8605:0.0:0.0	.	913;913	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	L	913;913;239	ENSP00000265293:P913L;ENSP00000427772:P913L;ENSP00000428084:P239L	ENSP00000265293:P913L	P	+	2	0	WWC1	167815018	0.049000	0.20398	0.263000	0.24496	0.009000	0.06853	2.095000	0.41729	1.258000	0.44101	0.655000	0.94253	CCG		0.622	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		129	105	0	0	0	1	0	129	105				
TNPO2	30000	broad.mit.edu	37	19	12825886	12825886	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:12825886A>G	ENST00000592287.1	-	8	854	c.746T>C	c.(745-747)aTc>aCc	p.I249T	TNPO2_ENST00000356861.5_Missense_Mutation_p.I249T|TNPO2_ENST00000450764.2_Missense_Mutation_p.I249T|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Missense_Mutation_p.I249T|TNPO2_ENST00000425528.1_Missense_Mutation_p.I249T|TNPO2_ENST00000441499.1_Missense_Mutation_p.I249T	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	249					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATGTGGGGGATGAGCCTGTC	0.642																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(745-747)aTc>aCc		transportin 2							61.0	66.0	64.0					19																	12825886		2131	4234	6365	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12825886A>G	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.746T>C	19.37:g.12825886A>G	ENSP00000468434:p.Ile249Thr					TNPO2_ENST00000592287.1_Missense_Mutation_p.I249T|TNPO2_ENST00000441499.1_Missense_Mutation_p.I249T|TNPO2_ENST00000588216.1_Missense_Mutation_p.I249T|TNPO2_ENST00000356861.5_Missense_Mutation_p.I249T|TNPO2_ENST00000450764.2_Missense_Mutation_p.I249T|TNPO2_ENST00000589956.1_Intron	p.I249T			O14787	TNPO2_HUMAN			9	1103	-			249					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.746T>C	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639515	0.47153	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.212422	0.48767	D	0.000177	T	0.64821	0.2633	M	0.65975	2.015	0.47584	D	0.999464	B;B	0.18610	0.029;0.0	B;B	0.14578	0.011;0.004	T	0.60885	-0.7174	10	0.29301	T	0.29	-6.5813	14.8144	0.70020	1.0:0.0:0.0:0.0	.	413;249	Q4LE60;O14787	.;TNPO2_HUMAN	T	413;249;249;249;249;249;249	ENSP00000407182:I249T;ENSP00000389648:I249T;ENSP00000397379:I249T;ENSP00000349321:I249T	ENSP00000349321:I249T	I	-	2	0	TNPO2	12686886	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.687000	0.91255	2.144000	0.66660	0.454000	0.30748	ATC		0.642	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		37	43	0	0	0	1	0	37	43				
SNX2	6643	broad.mit.edu	37	5	122165305	122165305	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:122165305T>C	ENST00000379516.2	+	15	1630	c.1522T>C	c.(1522-1524)Tgg>Cgg	p.W508R	SNX2_ENST00000510372.1_3'UTR|CTB-36H16.2_ENST00000565823.1_RNA|SNX2_ENST00000514949.1_Missense_Mutation_p.W391R	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	508					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GATAAAATACTGGGAAGCATT	0.343																																						ENST00000379516.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(1522-1524)Tgg>Cgg		sorting nexin 2							98.0	100.0	100.0					5																	122165305		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122165305T>C	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.1522T>C	5.37:g.122165305T>C	ENSP00000368831:p.Trp508Arg					SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.W391R	p.W508R	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	15	1630	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	508					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.1522T>C	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045767	0.75846	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.62498	0.02;0.02	5.77	5.77	0.91146	Vps5 C-terminal (1);	0.111715	0.64402	D	0.000003	D	0.83041	0.5168	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86754	0.1962	10	0.87932	D	0	-3.1868	16.0828	0.81017	0.0:0.0:0.0:1.0	.	508	O60749	SNX2_HUMAN	R	508;391	ENSP00000368831:W508R;ENSP00000421663:W391R	ENSP00000368831:W508R	W	+	1	0	SNX2	122193204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.600000	0.82769	2.199000	0.70637	0.528000	0.53228	TGG		0.343	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		21	50	0	0	0	1	0	21	50				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	31	1	0	0.00024832	1	0.000252935	4	31				
ARMCX2	9823	broad.mit.edu	37	X	100911796	100911796	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:100911796G>A	ENST00000328766.5	-	5	1232	c.779C>T	c.(778-780)aCc>aTc	p.T260I	ARMCX2_ENST00000330154.2_Missense_Mutation_p.T260I|ARMCX2_ENST00000356824.4_Missense_Mutation_p.T260I|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	260	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGCCCCAGGGGTTGCTTTCTT	0.602																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(778-780)aCc>aTc		armadillo repeat containing, X-linked 2							82.0	79.0	80.0					X																	100911796		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911796G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.779C>T	X.37:g.100911796G>A	ENSP00000331662:p.Thr260Ile					ARMCX2_ENST00000330154.2_Missense_Mutation_p.T260I|ARMCX2_ENST00000356824.4_Missense_Mutation_p.T260I	p.T260I	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1232	-			260			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.779C>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	5.614	0.298079	0.10622	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.36520	1.25;1.25;1.25	4.43	4.43	0.53597	.	0.241583	0.23049	N	0.052518	T	0.23289	0.0563	N	0.14661	0.345	0.09310	N	1	B	0.26400	0.148	B	0.24269	0.052	T	0.15694	-1.0428	10	0.38643	T	0.18	-3.6275	14.1741	0.65529	0.0:0.0:1.0:0.0	.	260	Q7L311	ARMX2_HUMAN	I	260	ENSP00000331662:T260I;ENSP00000328631:T260I;ENSP00000349281:T260I	ENSP00000331662:T260I	T	-	2	0	ARMCX2	100798452	0.859000	0.29813	0.096000	0.21009	0.090000	0.18270	2.578000	0.46051	2.139000	0.66308	0.544000	0.68410	ACC		0.602	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		47	102	0	0	0	1	0	47	102				
CDH7	1005	broad.mit.edu	37	18	63547798	63547798	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:63547798G>A	ENST00000397968.2	+	12	2452	c.2026G>A	c.(2026-2028)Gtc>Atc	p.V676I	CDH7_ENST00000323011.3_Missense_Mutation_p.V676I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	676					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AAACCTCAACGTCATCCGAGA	0.483																																						ENST00000397968.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(2026-2028)Gtc>Atc		cadherin 7, type 2							74.0	75.0	75.0					18																	63547798		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547798G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2026G>A	18.37:g.63547798G>A	ENSP00000381058:p.Val676Ile					CDH7_ENST00000323011.3_Missense_Mutation_p.V676I	p.V676I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN			12	2452	+		Esophageal squamous(42;0.129)	676					Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.2026G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577278	0.28092	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.76578	-1.03;-1.03	5.61	4.73	0.59995	Cadherin, cytoplasmic domain (1);	0.515737	0.20048	N	0.100365	T	0.67002	0.2847	L	0.48642	1.525	0.29059	N	0.884049	B	0.06786	0.001	B	0.06405	0.002	T	0.56733	-0.7930	10	0.37606	T	0.19	.	5.3339	0.15947	0.273:0.0:0.727:0.0	.	676	Q9ULB5	CADH7_HUMAN	I	676	ENSP00000319166:V676I;ENSP00000381058:V676I	ENSP00000319166:V676I	V	+	1	0	CDH7	61698778	1.000000	0.71417	0.910000	0.35882	0.495000	0.33615	5.519000	0.67074	2.631000	0.89168	0.655000	0.94253	GTC		0.483	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		36	46	0	0	0	1	0	36	46				
DYNC1H1	1778	broad.mit.edu	37	14	102506038	102506038	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:102506038C>T	ENST00000360184.4	+	62	11823	c.11659C>T	c.(11659-11661)Ctg>Ttg	p.L3887L	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3887					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCCATGCTGCTGGCAAGAAT	0.537																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(11659-11661)Ctg>Ttg		dynein, cytoplasmic 1, heavy chain 1							120.0	111.0	114.0					14																	102506038		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102506038C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11659C>T	14.37:g.102506038C>T						RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	p.L3887L	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			62	11823	+			3887					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.11659C>T	CCDS9966.1																																																																																				0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		62	67	0	0	0	1	0	62	67				
ST5	6764	broad.mit.edu	37	11	8720914	8720914	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:8720914G>A	ENST00000534127.1	-	18	3129	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	RPL27A_ENST00000531102.1_Intron|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Missense_Mutation_p.A428V|ST5_ENST00000530438.1_Missense_Mutation_p.A495V|ST5_ENST00000526757.1_Missense_Mutation_p.A495V|ST5_ENST00000357665.1_Missense_Mutation_p.A915V|ST5_ENST00000313726.6_Missense_Mutation_p.A915V|ST5_ENST00000534278.1_Missense_Mutation_p.A106V|ST5_ENST00000530991.1_Missense_Mutation_p.A387V	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	915	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCCACCACCGCGTGGGAGCA	0.617																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2743-2745)gCg>gTg		suppression of tumorigenicity 5							44.0	47.0	46.0					11																	8720914		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8720914G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2744C>T	11.37:g.8720914G>A	ENSP00000433528:p.Ala915Val					ST5_ENST00000526099.1_Missense_Mutation_p.A428V|ST5_ENST00000526757.1_Missense_Mutation_p.A495V|ST5_ENST00000534278.1_Missense_Mutation_p.A106V|ST5_ENST00000530438.1_Missense_Mutation_p.A495V|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.A915V|ST5_ENST00000357665.1_Missense_Mutation_p.A915V|ST5_ENST00000530991.1_Missense_Mutation_p.A387V	p.A915V	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	18	3129	-			915			DENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.2744C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320936	0.95682	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438;ENST00000533081	T;T;T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.82	5.82	0.92795	DENN (3);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	M	0.91249	3.19	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.998	P;D;D	0.70227	0.899;0.948;0.968	T	0.66176	-0.5989	10	0.87932	D	0	-10.7562	20.0852	0.97797	0.0:0.0:1.0:0.0	.	428;495;915	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	V	495;915;915;387;915;428;106;495;105	ENSP00000435097:A495V;ENSP00000433528:A915V;ENSP00000319678:A915V;ENSP00000432887:A387V;ENSP00000350294:A915V;ENSP00000436808:A428V;ENSP00000433349:A106V;ENSP00000436802:A495V;ENSP00000436067:A105V	ENSP00000319678:A915V	A	-	2	0	ST5	8677490	1.000000	0.71417	0.621000	0.29145	0.963000	0.63663	9.441000	0.97557	2.756000	0.94617	0.561000	0.74099	GCG		0.617	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		30	23	0	0	0	1	0	30	23				
TYW1B	441250	broad.mit.edu	37	7	72297544	72297544	+	RNA	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:72297544C>A	ENST00000435769.2	-	0	147				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GAGGAGAGGTCCCATGTATCC	0.343																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							214.0	167.0	181.0					7																	72297544		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72297544C>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72297544C>A										Q6NUM6	TYW1B_HUMAN			0	123	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.343	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		16	36	1	0	4.7546e-09	1	5.0178e-09	16	36				
SLC41A2	84102	broad.mit.edu	37	12	105282851	105282851	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:105282851A>G	ENST00000258538.3	-	4	967	c.840T>C	c.(838-840)tcT>tcC	p.S280S		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	280					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						CCACACTGCTAGAGCACAGAA	0.388																																					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.(838-840)tcT>tcC		solute carrier family 41 (magnesium transporter), member 2							105.0	104.0	104.0					12																	105282851		2203	4300	6503	SO:0001819	synonymous_variant	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105282851A>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.840T>C	12.37:g.105282851A>G							p.S280S	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN			4	967	-			280					Q3KP68|Q9H0E5	Silent	SNP	ENST00000258538.3	37	c.840T>C	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	A	5.854	0.341712	0.11069	.	.	ENSG00000136052	ENST00000437220	.	.	.	5.55	-5.18	0.02840	.	.	.	.	.	T	0.61627	0.2362	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61237	-0.7103	4	.	.	.	-15.5932	13.2689	0.60150	0.3684:0.0827:0.5489:0.0	.	.	.	.	P	136	.	.	L	-	2	0	SLC41A2	103806981	0.270000	0.24152	0.881000	0.34555	0.791000	0.44710	-0.451000	0.06795	-1.323000	0.02275	-1.963000	0.00474	CTA		0.388	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		45	56	0	0	0	1	0	45	56				
ASIC2	40	broad.mit.edu	37	17	32483140	32483140	+	Missense_Mutation	SNP	G	G	A	rs565904010		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:32483140G>A	ENST00000359872.6	-	1	1173	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	138					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.R138W(1)								Amiloride(DB00594)	GCCTTCTGCCGCAGGGCCTCC	0.592																																						ENST00000359872.6																			1	Substitution - Missense(1)	p.R138W(1)	prostate(1)								c.(412-414)Cgg>Tgg		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						88.0	96.0	93.0					17																	32483140		2135	4247	6382	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483140G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.412C>T	17.37:g.32483140G>A	ENSP00000352934:p.Arg138Trp						p.R138W	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	1173	-			138					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.412C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582413	0.46006	.	.	ENSG00000108684	ENST00000359872	T	0.64085	-0.08	4.96	-1.46	0.08800	.	.	.	.	.	T	0.72309	0.3444	M	0.76838	2.35	0.23769	N	0.996891	P	0.35527	0.507	P	0.48488	0.579	T	0.70920	-0.4741	9	0.59425	D	0.04	.	14.6773	0.68989	0.0:0.0:0.3391:0.6609	.	138	Q16515	ACCN1_HUMAN	W	138	ENSP00000352934:R138W	ENSP00000352934:R138W	R	-	1	2	ACCN1	29507253	0.993000	0.37304	1.000000	0.80357	0.956000	0.61745	2.890000	0.48609	-0.052000	0.13311	-0.274000	0.10170	CGG		0.592	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		50	73	0	0	0	1	0	50	73				
ARHGAP32	9743	broad.mit.edu	37	11	128843210	128843210	+	Missense_Mutation	SNP	G	G	A	rs370318111		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:128843210G>A	ENST00000310343.9	-	21	3148	c.3149C>T	c.(3148-3150)tCc>tTc	p.S1050F	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S701F|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S701F|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1050					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTGCTGTGCGGACTCAGCTAA	0.512																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(3148-3150)tCc>tTc		Rho GTPase activating protein 32							140.0	151.0	147.0					11																	128843210		2200	4297	6497	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128843210G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3149C>T	11.37:g.128843210G>A	ENSP00000310561:p.Ser1050Phe					ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S701F|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S701F	p.S1050F	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			21	3148	-			1050					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.3149C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146960	0.77888	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.19394	2.15;2.15;2.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.10989	-1.0606	10	0.66056	D	0.02	.	20.0027	0.97425	0.0:0.0:1.0:0.0	.	1050	A7KAX9	RHG32_HUMAN	F	1050;701;701	ENSP00000310561:S1050F;ENSP00000376425:S701F;ENSP00000432862:S701F	ENSP00000310561:S1050F	S	-	2	0	ARHGAP32	128348420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.993000	0.93524	2.733000	0.93635	0.655000	0.94253	TCC		0.512	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		79	114	0	0	0	1	0	79	114				
SLC12A6	9990	broad.mit.edu	37	15	34546772	34546772	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:34546772C>A	ENST00000354181.3	-	9	1387	c.895G>T	c.(895-897)Gct>Tct	p.A299S	SLC12A6_ENST00000560611.1_Missense_Mutation_p.A299S|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A248S|SLC12A6_ENST00000451844.2_Missense_Mutation_p.A111S|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A299S|SLC12A6_ENST00000558589.1_Missense_Mutation_p.A290S|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A284S|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A240S|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A111S|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A240S			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	299					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AAGATGGCAGCTCGGGGGACG	0.388																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(895-897)Gct>Tct		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						88.0	84.0	85.0					15																	34546772		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34546772C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.895G>T	15.37:g.34546772C>A	ENSP00000346112:p.Ala299Ser					SLC12A6_ENST00000451844.2_Missense_Mutation_p.A111S|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A111S|SLC12A6_ENST00000558589.1_Missense_Mutation_p.A290S|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A248S|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A284S|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A240S|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A299S|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A240S|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A299S	p.A299S			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	9	1387	-		all_lung(180;2.78e-08)	299					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.895G>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901852	0.72754	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18	4.99	4.99	0.66335	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	M	0.76838	2.35	0.80722	D	1	B;P;P;B	0.51653	0.149;0.947;0.738;0.18	B;P;P;P	0.51806	0.13;0.68;0.491;0.489	D	0.99560	1.0968	10	0.66056	D	0.02	.	17.2164	0.86945	0.0:1.0:0.0:0.0	.	284;299;248;111	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	S	248;284;290;240;240;111	ENSP00000290209:A248S;ENSP00000380819:A284S;ENSP00000380814:A240S;ENSP00000387725:A240S;ENSP00000390199:A111S	ENSP00000290209:A248S	A	-	1	0	SLC12A6	32334064	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.798000	0.62510	2.577000	0.86979	0.655000	0.94253	GCT		0.388	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		31	52	1	0	1.06801e-11	1	1.13671e-11	31	52				
HBP1	26959	broad.mit.edu	37	7	106826902	106826902	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:106826902C>T	ENST00000222574.4	+	5	823	c.637C>T	c.(637-639)Cac>Tac	p.H213Y	HBP1_ENST00000485846.1_Missense_Mutation_p.H213Y|HBP1_ENST00000468410.1_Missense_Mutation_p.H213Y	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	213	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						AACTGTCTGGCACTGTTTTTT	0.398																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(637-639)Cac>Tac		HMG-box transcription factor 1							172.0	162.0	165.0					7																	106826902		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106826902C>T	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.637C>T	7.37:g.106826902C>T	ENSP00000222574:p.His213Tyr					HBP1_ENST00000468410.1_Missense_Mutation_p.H213Y|HBP1_ENST00000485846.1_Missense_Mutation_p.H213Y	p.H213Y	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			5	823	+			213			AXH.		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.637C>T	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420572	0.83559	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99105	-5.43;-5.43;-5.43	5.87	4.99	0.66335	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (2);	0.040125	0.85682	N	0.000000	D	0.98877	0.9620	L	0.57536	1.79	0.80722	D	1	B;D;D	0.63880	0.0;0.993;0.987	B;D;P	0.64144	0.005;0.922;0.838	D	0.99771	1.1024	10	0.87932	D	0	-6.8505	15.1714	0.72875	0.0:0.9324:0.0:0.0676	.	223;213;213	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	Y	213;213;213;205	ENSP00000420500:H213Y;ENSP00000222574:H213Y;ENSP00000418738:H213Y	ENSP00000222574:H213Y	H	+	1	0	HBP1	106614138	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.770000	0.85390	1.494000	0.48533	-0.150000	0.13652	CAC		0.398	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		53	84	0	0	0	1	0	53	84				
BMP15	9210	broad.mit.edu	37	X	50659512	50659512	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:50659512T>C	ENST00000252677.3	+	2	1084	c.1084T>C	c.(1084-1086)Tat>Cat	p.Y362H		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	362					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCCGTATAAGTATGTTCCAAT	0.463																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(1084-1086)Tat>Cat		bone morphogenetic protein 15							94.0	85.0	88.0					X																	50659512		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659512T>C	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1084T>C	X.37:g.50659512T>C	ENSP00000252677:p.Tyr362His						p.Y362H	NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN			2	1084	+	Ovarian(276;0.236)		362					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.1084T>C	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	t	13.51	2.258501	0.39896	.	.	ENSG00000130385	ENST00000252677	D	0.84730	-1.89	5.58	5.58	0.84498	Transforming growth factor-beta, C-terminal (3);	0.118587	0.64402	N	0.000015	D	0.93161	0.7822	M	0.90483	3.12	0.50039	D	0.999846	D	0.89917	1.0	D	0.79784	0.993	D	0.94222	0.7468	10	0.87932	D	0	.	12.5724	0.56344	0.0:0.0:0.0:1.0	.	362	O95972	BMP15_HUMAN	H	362	ENSP00000252677:Y362H	ENSP00000252677:Y362H	Y	+	1	0	BMP15	50676252	1.000000	0.71417	0.972000	0.41901	0.018000	0.09664	6.173000	0.71937	1.876000	0.54355	0.481000	0.45027	TAT		0.463	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		45	60	0	0	0	1	0	45	60				
MAGEL2	54551	broad.mit.edu	37	15	23889906	23889906	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:23889906T>C	ENST00000532292.1	-	1	1269	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	275	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ACTTGCGACCTCAGACACAAC	0.622																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1174-1176)gAg>gGg		MAGE-like 2							39.0	40.0	40.0					15																	23889906		1947	4149	6096	SO:0001583	missense	54551							g.chr15:23889906T>C	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1175A>G	15.37:g.23889906T>C	ENSP00000433433:p.Glu392Gly						p.E392G	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1269	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1175A>G		.	.	.	.	.	.	.	.	.	.	T	5.199	0.222166	0.09863	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	T	0.44498	0.1296	L	0.53249	1.67	0.09310	N	0.999998	.	.	.	.	.	.	T	0.29119	-1.0022	5	.	.	.	.	9.1829	0.37152	0.0:0.0:0.0:1.0	.	.	.	.	G	424	.	.	R	-	1	2	MAGEL2	21440999	0.432000	0.25554	0.194000	0.23346	0.030000	0.12068	1.314000	0.33597	1.934000	0.56057	0.533000	0.62120	AGG		0.622	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		24	20	0	0	0	1	0	24	20				
CCDC70	83446	broad.mit.edu	37	13	52439515	52439515	+	Start_Codon_SNP	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:52439515A>G	ENST00000242819.4	+	2	297	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	1						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GTCATCCCTCATGGCCACCCC	0.597																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(1-3)Atg>Gtg		coiled-coil domain containing 70							35.0	35.0	35.0					13																	52439515		2203	4300	6503	SO:0001582	initiator_codon_variant	83446					extracellular region|plasma membrane		g.chr13:52439515A>G		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.1A>G	13.37:g.52439515A>G	ENSP00000242819:p.Met1Val						p.M1V	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	297	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1					Q8N7A8|Q9H097	Translation_Start_Site	SNP	ENST00000242819.4	37	c.1A>G	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	A	6.032	0.374221	0.11409	.	.	ENSG00000123171	ENST00000242819	T	0.31247	1.5	4.57	-1.05	0.10036	.	2.398620	0.01908	N	0.039619	T	0.22936	0.0554	.	.	.	0.09310	N	0.999999	B	0.11235	0.004	B	0.12156	0.007	T	0.34204	-0.9838	9	0.87932	D	0	-9.3118	3.9274	0.09270	0.4917:0.1901:0.3182:0.0	.	1	Q6NSX1	CCD70_HUMAN	V	1	ENSP00000242819:M1V	ENSP00000242819:M1V	M	+	1	0	CCDC70	51337516	0.000000	0.05858	0.010000	0.14722	0.104000	0.19210	0.343000	0.19944	0.212000	0.20703	-0.464000	0.05259	ATG		0.597	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290	Missense_Mutation	31	21	0	0	0	1	0	31	21				
STIL	6491	broad.mit.edu	37	1	47728788	47728788	+	Intron	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:47728788G>A	ENST00000360380.3	-	16	2979				STIL_ENST00000243182.6_Intron|STIL_ENST00000337817.5_Intron|STIL_ENST00000371877.3_Splice_Site_p.N872N|STIL_ENST00000396221.2_Intron	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus						cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GAGAAGAGCTGCTGGGAAGGA	0.398																																						ENST00000371877.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.e15-1		SCL/TAL1 interrupting locus							45.0	42.0	43.0					1																	47728788		2203	4300	6503	SO:0001627	intron_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47728788G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.2616-3C>T	1.37:g.47728788G>A						STIL_ENST00000396221.2_Intron|STIL_ENST00000360380.3_Intron|STIL_ENST00000337817.5_Intron|STIL_ENST00000243182.6_Intron	p.N872_splice			Q15468	STIL_HUMAN			15	2763	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	872					Q5T0C5|Q68CN9	Splice_Site	SNP	ENST00000360380.3	37	c.2615_splice	CCDS548.1																																																																																				0.398	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		11	18	0	0	0	1	0	11	18				
GFPT1	2673	broad.mit.edu	37	2	69554051	69554051	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:69554051A>G	ENST00000357308.4	-	19	2228	c.2050T>C	c.(2050-2052)Tat>Cat	p.Y684H	GFPT1_ENST00000361060.5_Missense_Mutation_p.Y666H	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	684	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CTTACATCATAGCCTCTCAGC	0.433																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(2050-2052)Tat>Cat		glutamine--fructose-6-phosphate transaminase 1							119.0	110.0	113.0					2																	69554051		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69554051A>G		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.2050T>C	2.37:g.69554051A>G	ENSP00000349860:p.Tyr684His					GFPT1_ENST00000361060.4_Missense_Mutation_p.Y666H	p.Y684H	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN			19	2228	-			684			SIS 2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.2050T>C	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909209	0.33721	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.71341	-0.56;-0.56	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.70894	0.3276	L	0.28504	0.86	0.80722	D	1	P	0.47106	0.89	P	0.57425	0.82	T	0.66143	-0.5997	10	0.18710	T	0.47	-15.8469	14.322	0.66491	1.0:0.0:0.0:0.0	.	666	Q06210-2	.	H	684;666	ENSP00000349860:Y684H;ENSP00000354347:Y666H	ENSP00000349860:Y684H	Y	-	1	0	GFPT1	69407555	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.983000	0.93477	2.160000	0.67779	0.460000	0.39030	TAT		0.433	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				25	22	0	0	0	1	0	25	22				
VPS52	6293	broad.mit.edu	37	6	33231322	33231322	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:33231322C>T	ENST00000445902.2	-	17	1951	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R453Q	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	578					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATCTGCAGCCCGCTCCTAAGG	0.512																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1732-1734)cGg>cAg		vacuolar protein sorting 52 homolog (S. cerevisiae)							104.0	91.0	96.0					6																	33231322		2203	4300	6503	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33231322C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1733G>A	6.37:g.33231322C>T	ENSP00000409952:p.Arg578Gln					VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R453Q|VPS52_ENST00000478934.1_5'UTR	p.R578Q	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			17	1951	-			578					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1733G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	33	5.254902	0.95336	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.69142	0.962;0.962	T	0.68762	-0.5323	9	0.14252	T	0.57	-25.7871	16.237	0.82381	0.0:1.0:0.0:0.0	.	389;578	B3KMF7;Q8N1B4	.;VPS52_HUMAN	Q	578;556;453	.	ENSP00000414785:R556Q	R	-	2	0	VPS52	33339300	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.274000	0.72587	2.779000	0.95612	0.573000	0.79308	CGG		0.512	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		26	35	0	0	0	1	0	26	35				
CHD4	1108	broad.mit.edu	37	12	6703716	6703716	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:6703716C>T	ENST00000357008.2	-	15	2385	c.2222G>A	c.(2221-2223)tGg>tAg	p.W741*	CHD4_ENST00000544484.1_Nonsense_Mutation_p.W738*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.W734*|CHD4_ENST00000309577.6_Nonsense_Mutation_p.W741*	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	741	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GCCCTGAGCCCAGGAGAAGCG	0.522																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2221-2223)tGg>tAg		chromodomain helicase DNA binding protein 4							134.0	119.0	124.0					12																	6703716		2203	4300	6503	SO:0001587	stop_gained	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6703716C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2222G>A	12.37:g.6703716C>T	ENSP00000349508:p.Trp741*					CHD4_ENST00000357008.2_Nonsense_Mutation_p.W741*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.W738*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.W734*	p.W741*			Q14839	CHD4_HUMAN			15	2385	-			741			Helicase ATP-binding.		Q8IXZ5	Nonsense_Mutation	SNP	ENST00000357008.2	37	c.2222G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	41	8.794205	0.98956	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8675	0.92298	0.0:1.0:0.0:0.0	.	.	.	.	X	738;734;741;741;715	.	ENSP00000312419:W741X	W	-	2	0	CHD4	6573977	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.625000	0.83145	2.686000	0.91538	0.591000	0.81541	TGG		0.522	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		43	56	0	0	0	1	0	43	56				
IFNW1	3467	broad.mit.edu	37	9	21141170	21141170	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:21141170C>T	ENST00000380229.2	-	1	974	c.400G>A	c.(400-402)Ggg>Agg	p.G134R		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	134					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTAATTGCCCCAGCAGATTCT	0.527																																						ENST00000380229.2																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(400-402)Ggg>Agg		interferon, omega 1							83.0	77.0	79.0					9																	21141170		2203	4300	6503	SO:0001583	missense	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141170C>T		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"""Interferons"""	5448	protein-coding gene	gene with protein product	"""IFN-omega 1, interferon omega-1"""	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.400G>A	9.37:g.21141170C>T	ENSP00000369578:p.Gly134Arg						p.G134R	NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	974	-			134					Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP	ENST00000380229.2	37	c.400G>A	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376956	0.42105	.	.	ENSG00000177047	ENST00000380229	T	0.03181	4.02	4.53	0.242	0.15498	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.673470	0.03718	N	0.251390	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	P	0.40534	0.72	B	0.43478	0.421	T	0.33007	-0.9885	10	0.87932	D	0	.	3.7502	0.08563	0.3558:0.2231:0.4211:0.0	.	134	P05000	IFNW1_HUMAN	R	134	ENSP00000369578:G134R	ENSP00000369578:G134R	G	-	1	0	IFNW1	21131170	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.279000	0.18771	0.159000	0.19401	0.460000	0.39030	GGG		0.527	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		33	44	0	0	0	1	0	33	44				
DBH	1621	broad.mit.edu	37	9	136508685	136508685	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:136508685C>A	ENST00000393056.2	+	4	907	c.895C>A	c.(895-897)Ctg>Atg	p.L299M		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	299					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCGCCACGTGCTGGCCGCCTG	0.682																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(895-897)Ctg>Atg		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						42.0	45.0	44.0					9																	136508685		2203	4299	6502	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136508685C>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.895C>A	9.37:g.136508685C>A	ENSP00000376776:p.Leu299Met						p.L299M	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	4	907	+			299					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.895C>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800949	0.70567	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.36157	1.27;1.27	4.83	3.92	0.45320	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	L	0.53617	1.68	0.47905	D	0.999549	B	0.28801	0.223	B	0.30943	0.122	T	0.18241	-1.0343	10	0.45353	T	0.12	-18.7354	9.1606	0.37021	0.0:0.8292:0.0:0.1708	.	299	P09172	DOPO_HUMAN	M	299;236;236	ENSP00000376776:L299M;ENSP00000263611:L236M	ENSP00000263611:L236M	L	+	1	2	DBH	135498506	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.203000	0.58453	2.216000	0.71823	0.505000	0.49811	CTG		0.682	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		33	56	1	0	6.86731e-36	1	7.72132e-36	33	56				
TTYH3	80727	broad.mit.edu	37	7	2687615	2687615	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:2687615C>T	ENST00000258796.7	+	5	854	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000403167.1_Silent_p.L46L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	217					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CCTGGGCCTGCTGCTGCTGGA	0.706																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(649-651)Ctg>Ttg		tweety family member 3							100.0	87.0	92.0					7																	2687615		2203	4300	6503	SO:0001819	synonymous_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2687615C>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.649C>T	7.37:g.2687615C>T						TTYH3_ENST00000403167.1_Silent_p.L46L|TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000477439.1_3'UTR	p.L217L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	5	854	+		Ovarian(82;0.0112)	217					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	c.649C>T	CCDS34588.1																																																																																				0.706	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		7	91	0	0	0	1	0	7	91				
UVSSA	57654	broad.mit.edu	37	4	1360206	1360206	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1360206G>A	ENST00000389851.4	+	8	1722	c.1275G>A	c.(1273-1275)ttG>ttA	p.L425L	UVSSA_ENST00000511216.1_Silent_p.L425L|UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000507531.1_Silent_p.L425L	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	425					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CCGACCACTTGCGGCCTGAGT	0.637																																						ENST00000389851.4																			0											c.(1273-1275)ttG>ttA		UV-stimulated scaffold protein A							119.0	110.0	113.0					4																	1360206		2203	4300	6503	SO:0001819	synonymous_variant	57654							g.chr4:1360206G>A	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1275G>A	4.37:g.1360206G>A						UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000511216.1_Silent_p.L425L|UVSSA_ENST00000507531.1_Silent_p.L425L	p.L425L	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			8	1722	+			425					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.1275G>A	CCDS33938.1																																																																																				0.637	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		68	99	0	0	0	1	0	68	99				
GON4L	54856	broad.mit.edu	37	1	155717654	155717654	+	IGR	SNP	T	T	C	rs200676591		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:155717654T>C	ENST00000368331.1	-	0	7640				MSTO1_ENST00000452804.2_Silent_p.T287T	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAATAATAACTTGGGGCCTGC	0.532													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18822	0.0		0.0	False		,,,				2504	0.0					ENST00000452804.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(859-861)acT>acC		misato 1, mitochondrial distribution and morphology regulator																																				SO:0001628	intergenic_variant	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155717654T>C	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106		1.37:g.155717654T>C							p.T287T			Q9BUK6	MSTO1_HUMAN			7	922	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		260					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.861T>C																																																																																					0.532	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		18	57	0	0	0	1	0	18	57				
BCL3	602	broad.mit.edu	37	19	45260667	45260667	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:45260667G>A	ENST00000164227.5	+	5	1052	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	270					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CGACATCGACGCAGTGGTGAG	0.692			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(808-810)Gca>Aca		B-cell CLL/lymphoma 3							19.0	15.0	16.0					19																	45260667		2199	4296	6495	SO:0001583	missense	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45260667G>A	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.808G>A	19.37:g.45260667G>A	ENSP00000164227:p.Ala270Thr						p.A270T	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			5	1052	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	270						Missense_Mutation	SNP	ENST00000164227.5	37	c.808G>A	CCDS12642.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.65|17.65	3.442809|3.442809	0.63067|0.63067	.|.	.|.	ENSG00000069399|ENSG00000069399	ENST00000403534;ENST00000164227|ENST00000444487	T|.	0.66995|.	-0.24|.	4.71|4.71	3.65|3.65	0.41850|0.41850	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.47852|.	D|.	0.000201|.	T|T	0.55289|0.55289	0.1911|0.1911	L|L	0.42744|0.42744	1.35|1.35	0.37880|0.37880	D|D	0.930366|0.930366	D|.	0.76494|.	0.999|.	P|.	0.55260|.	0.772|.	T|T	0.55283|0.55283	-0.8165|-0.8165	10|5	0.56958|.	D|.	0.05|.	-16.8585|-16.8585	10.1693|10.1693	0.42900|0.42900	0.0:0.0:0.8007:0.1993|0.0:0.0:0.8007:0.1993	.|.	270|.	P20749|.	BCL3_HUMAN|.	T|H	230;270|153	ENSP00000164227:A270T|.	ENSP00000164227:A270T|.	A|R	+|+	1|2	0|0	BCL3|BCL3	49952507|49952507	0.929000|0.929000	0.31497|0.31497	0.989000|0.989000	0.46669|0.46669	0.355000|0.355000	0.29361|0.29361	4.208000|4.208000	0.58486|0.58486	0.957000|0.957000	0.37930|0.37930	0.305000|0.305000	0.20034|0.20034	GCA|CGC		0.692	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		3	8	0	0	0	1	0	3	8				
BMP1	649	broad.mit.edu	37	8	22034617	22034617	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:22034617G>A	ENST00000306385.5	+	5	1365	c.695G>A	c.(694-696)cGc>cAc	p.R232H	BMP1_ENST00000397816.3_Missense_Mutation_p.R232H|BMP1_ENST00000397814.3_Missense_Mutation_p.R232H|BMP1_ENST00000306349.8_Missense_Mutation_p.R232H|BMP1_ENST00000354870.5_Missense_Mutation_p.R232H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	232	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GACCGGGACCGCCACGTTTCC	0.647																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(694-696)cGc>cAc		bone morphogenetic protein 1							50.0	38.0	42.0					8																	22034617		2202	4300	6502	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22034617G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.695G>A	8.37:g.22034617G>A	ENSP00000305714:p.Arg232His					BMP1_ENST00000397816.3_Missense_Mutation_p.R232H|BMP1_ENST00000397814.3_Missense_Mutation_p.R232H|BMP1_ENST00000306349.8_Missense_Mutation_p.R232H|BMP1_ENST00000354870.5_Missense_Mutation_p.R232H	p.R232H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	5	1365	+			232			Metalloprotease.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.695G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145778	0.57044	.	.	ENSG00000168487	ENST00000306385;ENST00000354870;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.45	2.47	0.30058	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.466719	0.15979	U	0.235368	T	0.39989	0.1099	N	0.17082	0.46	0.36924	D	0.891527	B;B;B	0.24092	0.0;0.097;0.001	B;B;B	0.15870	0.001;0.014;0.002	T	0.40720	-0.9548	10	0.51188	T	0.08	.	5.0435	0.14471	0.3498:0.0:0.6502:0.0	.	232;232;232	P13497;P13497-2;P13497-6	BMP1_HUMAN;.;.	H	232	ENSP00000305714:R232H;ENSP00000346941:R232H;ENSP00000380917:R232H;ENSP00000306121:R232H;ENSP00000380915:R232H	ENSP00000306121:R232H	R	+	2	0	BMP1	22090562	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.474000	0.81024	1.084000	0.41184	0.491000	0.48974	CGC		0.647	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		7	28	0	0	0	1	0	7	28				
SLC20A2	6575	broad.mit.edu	37	8	42275398	42275398	+	Missense_Mutation	SNP	C	C	T	rs200761348		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:42275398C>T	ENST00000342228.3	-	11	2251	c.1882G>A	c.(1882-1884)Gtg>Atg	p.V628M	SLC20A2_ENST00000520179.1_Missense_Mutation_p.V628M|SLC20A2_ENST00000520262.1_Missense_Mutation_p.V628M	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	628					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGGACGGTCACGAACCAGGCC	0.592																																						ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(1882-1884)Gtg>Atg		solute carrier family 20 (phosphate transporter), member 2							80.0	72.0	75.0					8																	42275398		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42275398C>T		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1882G>A	8.37:g.42275398C>T	ENSP00000340465:p.Val628Met					SLC20A2_ENST00000520179.1_Missense_Mutation_p.V628M|SLC20A2_ENST00000520262.1_Missense_Mutation_p.V628M	p.V628M	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		11	2251	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	628						Missense_Mutation	SNP	ENST00000342228.3	37	c.1882G>A	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096072	0.94197	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.91180	-2.8;-2.8;-2.8	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	M	0.85777	2.775	0.80722	D	1	D	0.65815	0.995	P	0.61070	0.883	D	0.94281	0.7520	10	0.44086	T	0.13	-32.378	18.3732	0.90420	0.0:1.0:0.0:0.0	.	628	Q08357	S20A2_HUMAN	M	628	ENSP00000340465:V628M;ENSP00000429754:V628M;ENSP00000429712:V628M	ENSP00000340465:V628M	V	-	1	0	SLC20A2	42394555	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTG		0.592	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			79	64	0	0	0	1	0	79	64				
TEX10	54881	broad.mit.edu	37	9	103108398	103108398	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:103108398G>T	ENST00000374902.4	-	4	1269	c.1093C>A	c.(1093-1095)Ctt>Att	p.L365I	TEX10_ENST00000535814.1_Missense_Mutation_p.L368I|TEX10_ENST00000537512.1_Missense_Mutation_p.L300I	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	365						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTCCACAGAAGGGAAATAATA	0.373																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1093-1095)Ctt>Att		testis expressed 10							71.0	73.0	72.0					9																	103108398		2203	4299	6502	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103108398G>T	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1093C>A	9.37:g.103108398G>T	ENSP00000364037:p.Leu365Ile					TEX10_ENST00000535814.1_Missense_Mutation_p.L368I|TEX10_ENST00000537512.1_Missense_Mutation_p.L300I	p.L365I	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	4	1269	-		Acute lymphoblastic leukemia(62;0.0527)	365					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1093C>A	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912435	0.52439	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235;ENST00000537512	T;T;T	0.64991	-0.13;-0.13;-0.13	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.983;0.999;0.998;0.998;0.993	P;D;D;D;P	0.83275	0.795;0.991;0.996;0.99;0.884	T	0.74390	-0.3681	10	0.51188	T	0.08	-9.2419	7.1212	0.25446	0.2079:0.0:0.7921:0.0	.	300;368;233;233;365	B7Z9D5;B4DYV2;E7ERG2;B4DQR0;Q9NXF1	.;.;.;.;TEX10_HUMAN	I	368;365;233;10;300	ENSP00000444555:L368I;ENSP00000364037:L365I;ENSP00000438120:L300I	ENSP00000364037:L365I	L	-	1	0	TEX10	102148219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.886000	0.48578	2.558000	0.86282	0.561000	0.74099	CTT		0.373	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		9	39	1	0	1.76689e-08	1	1.85133e-08	9	39				
KREMEN2	79412	broad.mit.edu	37	16	3016379	3016379	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:3016379G>A	ENST00000303746.5	+	4	992	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	KREMEN2_ENST00000319500.6_Missense_Mutation_p.G139S|KREMEN2_ENST00000575885.1_Missense_Mutation_p.G139S|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000318782.8_5'Flank|PAQR4_ENST00000576565.1_5'Flank|PAQR4_ENST00000293978.8_5'Flank|KREMEN2_ENST00000575769.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000571007.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000572045.1_Missense_Mutation_p.G139S			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	139	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558, ECO:0000305}.				Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						AGCCCTCAGCGGCCCCAGCGG	0.642																																						ENST00000572045.1																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						c.(415-417)Ggc>Agc		kringle containing transmembrane protein 2							73.0	82.0	79.0					16																	3016379		2198	4300	6498	SO:0001583	missense	79412				Wnt receptor signaling pathway	integral to membrane		g.chr16:3016379G>A	BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.415G>A	16.37:g.3016379G>A	ENSP00000304422:p.Gly139Ser					KREMEN2_ENST00000575769.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000575885.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000319500.6_Missense_Mutation_p.G139S|KREMEN2_ENST00000571007.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000303746.5_Missense_Mutation_p.G139S	p.G139S	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN			4	720	+			139			WSC.		B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Missense_Mutation	SNP	ENST00000303746.5	37	c.415G>A	CCDS10483.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175533	0.78564	.	.	ENSG00000131650	ENST00000303746;ENST00000319500	T;T	0.55052	0.54;0.54	4.81	4.81	0.61882	Carbohydrate-binding WSC (2);	0.000000	0.45126	D	0.000383	T	0.71074	0.3297	M	0.72118	2.19	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.999;1.0	T	0.74022	-0.3798	10	0.56958	D	0.05	.	15.3843	0.74684	0.0:0.0:1.0:0.0	.	139;139;139;139;139;139	B4DXF6;Q53F67;Q8NCW0-2;Q8NCW0-4;Q8NCW0-3;Q8NCW0	.;.;.;.;.;KREM2_HUMAN	S	139	ENSP00000304422:G139S;ENSP00000322079:G139S	ENSP00000304422:G139S	G	+	1	0	KREMEN2	2956380	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.113000	0.71553	2.217000	0.71921	0.462000	0.41574	GGC		0.642	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		60	96	0	0	0	1	0	60	96				
MAPRE2	10982	broad.mit.edu	37	18	32720278	32720278	+	Missense_Mutation	SNP	C	C	T	rs553548164		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:32720278C>T	ENST00000300249.5	+	7	1109	c.929C>T	c.(928-930)cCg>cTg	p.P310L	MAPRE2_ENST00000436190.2_Missense_Mutation_p.P298L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267L	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	310	DCTN1-binding.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACAGAAGAGCCGGAAGCAGAG	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17697	0.0		0.0	False		,,,				2504	0.0					ENST00000436190.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(892-894)cCg>cTg		microtubule-associated protein, RP/EB family, member 2							78.0	86.0	83.0					18																	32720278		2201	4300	6501	SO:0001583	missense	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32720278C>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.929C>T	18.37:g.32720278C>T	ENSP00000300249:p.Pro310Leu					MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267L|MAPRE2_ENST00000300249.5_Missense_Mutation_p.P310L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267L	p.P298L	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN			8	1167	+			310			APC-binding.|DCTN1-binding.|EB1 C-terminal.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	c.893C>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513876	0.27123	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.43688	0.96;0.95;0.96;0.94	5.42	2.24	0.28232	.	0.426342	0.26143	N	0.026096	T	0.27900	0.0687	N	0.22421	0.69	0.40164	D	0.977091	B;B;B	0.19583	0.012;0.007;0.037	B;B;B	0.12156	0.001;0.007;0.005	T	0.10613	-1.0622	10	0.28530	T	0.3	-1.0451	13.652	0.62316	0.3951:0.6049:0.0:0.0	.	298;257;310	E9PHR3;F5H1V8;Q15555	.;.;MARE2_HUMAN	L	267;298;310;257	ENSP00000396074:P267L;ENSP00000407723:P298L;ENSP00000300249:P310L;ENSP00000446343:P257L	ENSP00000300249:P310L	P	+	2	0	MAPRE2	30974276	0.950000	0.32346	0.987000	0.45799	0.996000	0.88848	2.022000	0.41030	1.206000	0.43276	0.563000	0.77884	CCG		0.597	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		9	16	0	0	0	1	0	9	16				
TG	7038	broad.mit.edu	37	8	133923762	133923762	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:133923762T>C	ENST00000220616.4	+	19	4183	c.4143T>C	c.(4141-4143)ccT>ccC	p.P1381P	TG_ENST00000377869.1_Silent_p.P1381P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1381					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCTCTTCCTGACTTACATG	0.473																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4141-4143)ccT>ccC		thyroglobulin							192.0	172.0	178.0					8																	133923762		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133923762T>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4143T>C	8.37:g.133923762T>C						TG_ENST00000377869.1_Silent_p.P1381P	p.P1381P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	19	4183	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1381					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.4143T>C	CCDS34944.1																																																																																				0.473	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		57	148	0	0	0	1	0	57	148				
HJURP	55355	broad.mit.edu	37	2	234750399	234750399	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:234750399C>T	ENST00000411486.2	-	8	1092	c.1027G>A	c.(1027-1029)Gta>Ata	p.V343I	HJURP_ENST00000441687.1_Missense_Mutation_p.V258I|HJURP_ENST00000432087.1_Missense_Mutation_p.V289I|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	343					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACATCTAATACGTTCTTGCAA	0.438																																						ENST00000411486.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1027-1029)Gta>Ata		Holliday junction recognition protein							66.0	68.0	67.0					2																	234750399		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234750399C>T		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1027G>A	2.37:g.234750399C>T	ENSP00000414109:p.Val343Ile					HJURP_ENST00000441687.1_Missense_Mutation_p.V258I|HJURP_ENST00000432087.1_Missense_Mutation_p.V289I	p.V343I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	8	1092	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	343					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.1027G>A	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965729	0.18583	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	4.36	-8.72	0.00845	Holliday junction recognition protein, HJURP (1);	0.813056	0.09962	N	0.733317	T	0.22704	0.0548	L	0.29908	0.895	0.09310	N	1	B;B;B	0.31026	0.259;0.259;0.304	B;B;B	0.26614	0.042;0.042;0.071	T	0.09443	-1.0674	10	0.37606	T	0.19	-0.0153	9.4275	0.38590	0.1518:0.463:0.3852:0.0	.	258;289;343	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	I	343;289;258;258	ENSP00000414109:V343I;ENSP00000407208:V289I;ENSP00000401944:V258I;ENSP00000393253:V258I	ENSP00000414109:V343I	V	-	1	0	HJURP	234415138	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.956000	0.03865	-1.916000	0.01075	-1.175000	0.01729	GTA		0.438	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		20	23	0	0	0	1	0	20	23				
DNAH9	1770	broad.mit.edu	37	17	11725897	11725897	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:11725897A>C	ENST00000262442.4	+	47	9061	c.8993A>C	c.(8992-8994)cAg>cCg	p.Q2998P	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2998P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2998	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCTTCTTGCAGAACACAGAG	0.522																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8992-8994)cAg>cCg		dynein, axonemal, heavy chain 9							109.0	106.0	107.0					17																	11725897		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11725897A>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8993A>C	17.37:g.11725897A>C	ENSP00000262442:p.Gln2998Pro					DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2998P	p.Q2998P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	47	9061	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2998			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8993A>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843825	0.51164	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.46063	0.88;0.88	3.68	3.68	0.42216	Dynein heavy chain, P-loop containing D4 domain (1);	0.078928	0.52532	D	0.000078	T	0.54240	0.1846	M	0.73962	2.25	0.80722	D	1	P	0.48230	0.907	P	0.56865	0.808	T	0.54490	-0.8286	10	0.42905	T	0.14	.	8.0672	0.30667	0.8903:0.0:0.1097:0.0	.	2998	Q9NYC9	DYH9_HUMAN	P	2998;2998;1580	ENSP00000262442:Q2998P;ENSP00000414874:Q2998P	ENSP00000262442:Q2998P	Q	+	2	0	DNAH9	11666622	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	4.185000	0.58330	1.671000	0.50874	0.460000	0.39030	CAG		0.522	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		68	92	0	0	0	1	0	68	92				
MYT1	4661	broad.mit.edu	37	20	62839359	62839359	+	Silent	SNP	G	G	A	rs573020004		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62839359G>A	ENST00000328439.1	+	7	1174	c.810G>A	c.(808-810)gaG>gaA	p.E270E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.E270E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaagaggaggaggaggagg	0.577													g|||	1	0.000199681	0.0	0.0	5008	,	,		13584	0.0		0.0	False		,,,				2504	0.001				GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(808-810)gaG>gaA		myelin transcription factor 1							20.0	20.0	20.0					20																	62839359		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839359G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.810G>A	20.37:g.62839359G>A						MYT1_ENST00000328439.1_Silent_p.E270E|MYT1_ENST00000360149.4_Intron	p.E270E			Q01538	MYT1_HUMAN			7	1174	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		270			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.810G>A	CCDS13558.1																																																																																				0.577	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		15	21	0	0	0	1	0	15	21				
PADI6	353238	broad.mit.edu	37	1	17727969	17727969	+	RNA	SNP	G	G	A	rs374262842		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:17727969G>A	ENST00000434762.2	+	0	2171							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTGCCCCAGCGTGGATGGCCC	0.587																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)	A		0,4178		0,0,2089	17.0	19.0	18.0			-8.7	0.0	1		18	3,8431		0,3,4214	no	utr-3	PADI6	NM_207421.3		0,3,6303	AA,AG,GG		0.0356,0.0,0.0238			17727969	3,12609	2089	4217	6306			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17727969G>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17727969G>A										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	2171	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	37																																																																																						0.587	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		3	21	0	0	0	1	0	3	21				
KIAA1217	56243	broad.mit.edu	37	10	24831988	24831988	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:24831988G>A	ENST00000376454.3	+	19	3819	c.3789G>A	c.(3787-3789)gtG>gtA	p.V1263V	KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376451.2_Silent_p.V946V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1263					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGAAACTGTGCCTAAGGCCA	0.383																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2836-2838)gtG>gtA		KIAA1217							36.0	37.0	37.0					10																	24831988		2201	4300	6501	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24831988G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3789G>A	10.37:g.24831988G>A						KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376454.3_Silent_p.V1263V	p.V946V			Q5T5P2	SKT_HUMAN			14	3098	+			1263					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.2838G>A	CCDS31165.1																																																																																				0.383	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		36	29	0	0	0	1	0	36	29				
ZFYVE19	84936	broad.mit.edu	37	15	41099853	41099853	+	Silent	SNP	C	C	G	rs199645685		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:41099853C>G	ENST00000355341.4	+	1	567	c.66C>G	c.(64-66)tcC>tcG	p.S22S	ZFYVE19_ENST00000299173.10_Silent_p.S22S|ZFYVE19_ENST00000336455.5_Intron|DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000570108.1_Intron	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	22					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAGAGCGTCCGGATTCCCTG	0.692																																						ENST00000355341.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(64-66)tcC>tcG		zinc finger, FYVE domain containing 19							15.0	19.0	18.0					15																	41099853		2105	4188	6293	SO:0001819	synonymous_variant	84936						zinc ion binding	g.chr15:41099853C>G	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.66C>G	15.37:g.41099853C>G						ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000299173.10_Silent_p.S22S|ZFYVE19_ENST00000336455.5_Intron	p.S22S	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	1	567	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	22					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	c.66C>G	CCDS42025.1																																																																																				0.692	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		11	16	0	0	0	1	0	11	16				
BOC	91653	broad.mit.edu	37	3	112998226	112998226	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:112998226A>C	ENST00000495514.1	+	12	2648	c.1944A>C	c.(1942-1944)aaA>aaC	p.K648N	BOC_ENST00000273395.4_Missense_Mutation_p.K649N|BOC_ENST00000355385.3_Missense_Mutation_p.K648N			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	648	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGCTAAAGAAAGTGGGAGACT	0.612																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1942-1944)aaA>aaC		BOC cell adhesion associated, oncogene regulated							71.0	76.0	74.0					3																	112998226		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112998226A>C	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1944A>C	3.37:g.112998226A>C	ENSP00000418663:p.Lys648Asn					BOC_ENST00000273395.4_Missense_Mutation_p.K649N|BOC_ENST00000355385.3_Missense_Mutation_p.K648N	p.K648N			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		12	2648	+			648			Fibronectin type-III 2.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1944A>C	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225301	0.79576	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57595	0.39;0.39;0.39	5.55	1.96	0.26148	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.164731	0.53938	D	0.000054	T	0.52549	0.1741	L	0.28740	0.885	0.37956	D	0.932826	D;D	0.61080	0.986;0.989	D;D	0.67548	0.92;0.952	T	0.51687	-0.8674	10	0.37606	T	0.19	.	6.7961	0.23727	0.5222:0.0:0.4778:0.0	.	649;648	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	N	648;649;648	ENSP00000418663:K648N;ENSP00000273395:K649N;ENSP00000347546:K648N	ENSP00000273395:K649N	K	+	3	2	BOC	114480916	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.955000	0.56715	0.403000	0.25479	0.460000	0.39030	AAA		0.612	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		33	54	0	0	0	1	0	33	54				
DHRS12	79758	broad.mit.edu	37	13	52365373	52365373	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:52365373C>A	ENST00000444610.2	-	4	307	c.294G>T	c.(292-294)gtG>gtT	p.V98V	DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000218981.1_Silent_p.V49V|DHRS12_ENST00000280056.2_Silent_p.V49V	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	98							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CAGACAAGTCCACAATGTGCA	0.299																																						ENST00000218981.1																			0				cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7						c.(145-147)gtG>gtT		dehydrogenase/reductase (SDR family) member 12							67.0	65.0	66.0					13																	52365373		2203	4300	6503	SO:0001819	synonymous_variant	79758						binding|oxidoreductase activity	g.chr13:52365373C>A	AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	25832	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 40C, member 1"""					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.294G>T	13.37:g.52365373C>A						DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Silent_p.V49V|DHRS12_ENST00000444610.2_Silent_p.V98V	p.V49V	NM_024705.2	NP_078981.1	A0PJE2	DHR12_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	3	258	-		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)	98					Q96GB2|Q9H8H1	Silent	SNP	ENST00000444610.2	37	c.147G>T	CCDS58292.1																																																																																				0.299	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045036.3	NM_024705		8	22	1	0	0.0477658	1	0.0479846	8	22				
POMT1	10585	broad.mit.edu	37	9	134382768	134382768	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:134382768C>T	ENST00000372228.3	+	5	473	c.294C>T	c.(292-294)aaC>aaT	p.N98N	POMT1_ENST00000419118.2_Intron|POMT1_ENST00000354713.4_Silent_p.N68N|POMT1_ENST00000341012.7_Silent_p.N44N|POMT1_ENST00000404875.2_5'UTR|POMT1_ENST00000423007.1_Silent_p.N98N|POMT1_ENST00000402686.3_Silent_p.N98N|POMT1_ENST00000541219.1_Intron	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	98					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ACAGTAGCAACGTGCCTGTGT	0.557																																						ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(292-294)aaC>aaT		protein-O-mannosyltransferase 1							167.0	157.0	160.0					9																	134382768		2203	4300	6503	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134382768C>T	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.294C>T	9.37:g.134382768C>T						POMT1_ENST00000419118.2_Intron|POMT1_ENST00000402686.3_Silent_p.N98N|POMT1_ENST00000372228.3_Silent_p.N98N|POMT1_ENST00000354713.4_Silent_p.N68N|POMT1_ENST00000404875.2_5'UTR|POMT1_ENST00000341012.7_Silent_p.N44N|POMT1_ENST00000541219.1_Intron	p.N98N	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	5	736	+		Myeloproliferative disorder(178;0.204)	98					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.294C>T	CCDS6943.1																																																																																				0.557	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		54	80	0	0	0	1	0	54	80				
SEC31A	22872	broad.mit.edu	37	4	83788042	83788042	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:83788042C>T	ENST00000395310.2	-	10	1298	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	SEC31A_ENST00000508502.1_Silent_p.Q372Q|SEC31A_ENST00000508479.1_Silent_p.Q372Q|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000355196.2_Silent_p.Q372Q|SEC31A_ENST00000513858.1_Silent_p.Q372Q|SEC31A_ENST00000311785.7_Silent_p.Q372Q|SEC31A_ENST00000326950.5_Silent_p.Q372Q|SEC31A_ENST00000509142.1_Silent_p.Q372Q|SEC31A_ENST00000505984.1_Silent_p.Q372Q|SEC31A_ENST00000505472.1_Silent_p.Q372Q|SEC31A_ENST00000348405.4_Silent_p.Q372Q|SEC31A_ENST00000443462.2_Silent_p.Q367Q|SEC31A_ENST00000432794.1_Silent_p.Q372Q|SEC31A_ENST00000500777.2_Silent_p.Q372Q|SEC31A_ENST00000448323.1_Silent_p.Q372Q|SEC31A_ENST00000264405.5_Silent_p.Q144Q	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	372	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAGCAGTCTGCTGTGGAATTT	0.433																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(1114-1116)caG>caA		SEC31 homolog A (S. cerevisiae)							127.0	129.0	128.0					4																	83788042		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83788042C>T	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1116G>A	4.37:g.83788042C>T						SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Silent_p.Q372Q|SEC31A_ENST00000311785.7_Silent_p.Q372Q|SEC31A_ENST00000513858.1_Silent_p.Q372Q|SEC31A_ENST00000505472.1_Silent_p.Q372Q|SEC31A_ENST00000509142.1_Silent_p.Q372Q|SEC31A_ENST00000508502.1_Silent_p.Q372Q|SEC31A_ENST00000505984.1_Silent_p.Q372Q|SEC31A_ENST00000264405.5_Silent_p.Q144Q|SEC31A_ENST00000448323.1_Silent_p.Q372Q|SEC31A_ENST00000443462.2_Silent_p.Q367Q|SEC31A_ENST00000395310.2_Silent_p.Q372Q|SEC31A_ENST00000355196.2_Silent_p.Q372Q|SEC31A_ENST00000348405.4_Silent_p.Q372Q|SEC31A_ENST00000500777.2_Silent_p.Q372Q|SEC31A_ENST00000326950.5_Silent_p.Q372Q	p.Q372Q			O94979	SC31A_HUMAN			10	1279	-		Hepatocellular(203;0.114)	372			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.1116G>A	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	6.989	0.552569	0.13374	.	.	ENSG00000138674	ENST00000507828	.	.	.	5.06	4.22	0.49857	.	.	.	.	.	T	0.71108	0.3301	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71013	-0.4715	4	.	.	.	-2.635	15.9341	0.79688	0.0:0.8645:0.1355:0.0	.	.	.	.	T	15	.	.	A	-	1	0	SEC31A	84007066	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	3.246000	0.51414	1.246000	0.43901	0.573000	0.79308	GCA		0.433	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		70	95	0	0	0	1	0	70	95				
GRAMD1A	57655	broad.mit.edu	37	19	35500223	35500223	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:35500223G>A	ENST00000317991.5	+	2	401	c.209G>A	c.(208-210)cGc>cAc	p.R70H	GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R157H|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R70H|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R70H	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	70						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AACTTCATCCGCAACAGCAAG	0.622																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(469-471)cGc>cAc		GRAM domain containing 1A							42.0	50.0	48.0					19																	35500223		1974	4144	6118	SO:0001583	missense	57655					integral to membrane		g.chr19:35500223G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.209G>A	19.37:g.35500223G>A	ENSP00000441032:p.Arg70His					GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R70H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R70H|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R70H	p.R157H			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	541	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		70			GRAM.		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.470G>A	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774953	0.49786	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.25912	1.79;1.77	4.67	4.67	0.58626	.	0.000000	0.56097	U	0.000028	T	0.31167	0.0788	N	0.19112	0.55	0.80722	D	1	D;B;D;D	0.89917	1.0;0.124;0.999;0.999	D;B;P;D	0.70227	0.968;0.007;0.898;0.965	T	0.05818	-1.0862	10	0.62326	D	0.03	.	8.6407	0.33974	0.1016:0.0:0.8984:0.0	.	70;70;70;157	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	H	157;70;70	ENSP00000441032:R70H;ENSP00000439267:R70H	ENSP00000441032:R70H	R	+	2	0	GRAMD1A	40192063	1.000000	0.71417	0.995000	0.50966	0.401000	0.30781	4.137000	0.58010	2.426000	0.82243	0.561000	0.74099	CGC		0.622	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		36	56	0	0	0	1	0	36	56				
GRIK2	2898	broad.mit.edu	37	6	102372596	102372596	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:102372596T>C	ENST00000421544.1	+	12	2357		c.e12+2		GRIK2_ENST00000369138.1_Splice_Site|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369134.4_Splice_Site|GRIK2_ENST00000318991.6_Splice_Site|GRIK2_ENST00000413795.1_Splice_Site	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2						behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGCAGCAAGGTATACGATTCA	0.498																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.e12+2		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						114.0	104.0	107.0					6																	102372596		2203	4300	6503	SO:0001630	splice_region_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102372596T>C		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1867+2T>C	6.37:g.102372596T>C						GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369134.4_Splice_Site|GRIK2_ENST00000318991.6_Splice_Site|GRIK2_ENST00000421544.1_Splice_Site|GRIK2_ENST00000413795.1_Splice_Site		NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	12	2357	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)						A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Splice_Site	SNP	ENST00000421544.1	37		CCDS5048.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329245	0.81690	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000318991;ENST00000369134	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0769	0.80974	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIK2	102479289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.203000	0.70933	0.482000	0.46254	.		0.498	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		Intron	16	45	0	0	0	1	0	16	45				
C15orf39	56905	broad.mit.edu	37	15	75498963	75498963	+	Missense_Mutation	SNP	C	C	T	rs548759069		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:75498963C>T	ENST00000360639.2	+	2	894	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	C15orf39_ENST00000394987.4_Missense_Mutation_p.R192W|C15orf39_ENST00000567617.1_Missense_Mutation_p.R192W			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	192						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CACCTTCTTGCGGGGGGTGCC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		13712	0.001		0.0	False		,,,				2504	0.0					ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(574-576)Cgg>Tgg		chromosome 15 open reading frame 39							37.0	41.0	40.0					15																	75498963		2197	4291	6488	SO:0001583	missense	56905							g.chr15:75498963C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.574C>T	15.37:g.75498963C>T	ENSP00000353854:p.Arg192Trp					C15orf39_ENST00000567617.1_Missense_Mutation_p.R192W|C15orf39_ENST00000394987.4_Missense_Mutation_p.R192W	p.R192W			Q6ZRI6	CO039_HUMAN			2	894	+			192					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.574C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979601	0.34942	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.66460	-0.21;-0.21	5.13	1.88	0.25563	.	0.643074	0.13616	N	0.374763	T	0.67720	0.2923	L	0.57536	1.79	0.21355	N	0.999715	D	0.67145	0.996	P	0.50708	0.648	T	0.58544	-0.7618	10	0.87932	D	0	-2.3691	8.9497	0.35781	0.1563:0.5404:0.3033:0.0	.	192	Q6ZRI6	CO039_HUMAN	W	192	ENSP00000353854:R192W;ENSP00000378438:R192W	ENSP00000353854:R192W	R	+	1	2	C15orf39	73286016	0.053000	0.20554	0.667000	0.29798	0.866000	0.49608	1.305000	0.33493	0.499000	0.27970	0.561000	0.74099	CGG		0.627	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		48	62	0	0	0	1	0	48	62				
ABCA7	10347	broad.mit.edu	37	19	1046869	1046869	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:1046869T>C	ENST00000263094.6	+	14	1922	c.1691T>C	c.(1690-1692)cTg>cCg	p.L564P	ABCA7_ENST00000435683.2_Missense_Mutation_p.L426P|ABCA7_ENST00000533574.1_Intron|ABCA7_ENST00000433129.1_Missense_Mutation_p.L564P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	564					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGTGACACTGACAGTGAAG	0.687																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1690-1692)cTg>cCg		ATP-binding cassette, sub-family A (ABC1), member 7							23.0	22.0	22.0					19																	1046869		2167	4246	6413	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046869T>C	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1691T>C	19.37:g.1046869T>C	ENSP00000263094:p.Leu564Pro					ABCA7_ENST00000435683.2_Missense_Mutation_p.L426P|ABCA7_ENST00000433129.1_Missense_Mutation_p.L564P|ABCA7_ENST00000533574.1_Intron	p.L564P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1922	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	564					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1691T>C	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	t	21.6	4.174843	0.78564	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.90004	-2.6;-2.6	4.92	3.89	0.44902	.	.	.	.	.	D	0.92718	0.7685	M	0.75264	2.295	0.53688	D	0.999979	D;D	0.69078	0.997;0.997	D;D	0.71656	0.956;0.974	D	0.91847	0.5488	9	0.87932	D	0	.	8.8341	0.35102	0.0:0.0921:0.0:0.9079	.	426;564	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	P	564	ENSP00000263094:L564P;ENSP00000414062:L564P	ENSP00000263094:L564P	L	+	2	0	ABCA7	997869	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	4.067000	0.57527	0.720000	0.32209	0.454000	0.30748	CTG		0.687	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		4	2	0	0	0	1	0	4	2				
MCC	4163	broad.mit.edu	37	5	112824031	112824031	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:112824031G>A	ENST00000408903.3	-	1	496	c.81C>T	c.(79-81)agC>agT	p.S27S		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGTcgctgctgctgctgctgc	0.741																																						ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(79-81)agC>agT		mutated in colorectal cancers							11.0	15.0	14.0					5																	112824031		1996	4143	6139	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824031G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.81C>T	5.37:g.112824031G>A							p.S27S	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	496	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	555					D3DT05|Q6ZR04	Silent	SNP	ENST00000408903.3	37	c.81C>T	CCDS43351.1																																																																																				0.741	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		24	10	0	0	0	1	0	24	10				
CD36	948	broad.mit.edu	37	7	80276069	80276069	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:80276069C>T	ENST00000435819.1	+	6	697	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	CD36_ENST00000441109.2_3'UTR|CD36_ENST00000538969.1_Missense_Mutation_p.R5W|CD36_ENST00000534394.1_Intron|CD36_ENST00000433696.2_Missense_Mutation_p.R5W|CD36_ENST00000309881.7_Missense_Mutation_p.R5W|CD36_ENST00000432207.1_Missense_Mutation_p.R5W|CD36_ENST00000394788.3_Missense_Mutation_p.R5W|CD36_ENST00000447544.2_Missense_Mutation_p.R5W|CD36_ENST00000544133.1_Missense_Mutation_p.R5W			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	5					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GGGCTGTGACCGGAACTGTGG	0.468																																						ENST00000435819.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(13-15)Cgg>Tgg		CD36 molecule (thrombospondin receptor)							180.0	168.0	172.0					7																	80276069		2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80276069C>T	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.13C>T	7.37:g.80276069C>T	ENSP00000399421:p.Arg5Trp					CD36_ENST00000441109.2_3'UTR|CD36_ENST00000447544.2_Missense_Mutation_p.R5W|CD36_ENST00000544133.1_Missense_Mutation_p.R5W|CD36_ENST00000432207.1_Missense_Mutation_p.R5W|CD36_ENST00000394788.3_Missense_Mutation_p.R5W|CD36_ENST00000534394.1_Intron|CD36_ENST00000309881.7_Missense_Mutation_p.R5W|CD36_ENST00000538969.1_Missense_Mutation_p.R5W|CD36_ENST00000433696.2_Missense_Mutation_p.R5W	p.R5W			P16671	CD36_HUMAN			6	697	+			5					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.13C>T	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243968	0.39697	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000438020;ENST00000436384;ENST00000428497;ENST00000482059;ENST00000394788;ENST00000447544;ENST00000426978;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000538969;ENST00000544133;ENST00000433696	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.04;-0.04;0.19;-0.19;-0.19;-0.04;-0.04;0.18;-0.04;0.76;-0.03;-0.5;0.59;0.23	5.45	1.16	0.20824	.	0.255302	0.35262	N	0.003322	T	0.76097	0.3940	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	P	0.56514	0.8	T	0.69480	-0.5134	9	.	.	.	-6.3684	12.6887	0.56962	0.5696:0.4304:0.0:0.0	.	5	P16671	CD36_HUMAN	W	5	ENSP00000399421:R5W;ENSP00000308165:R5W;ENSP00000410371:R5W;ENSP00000398760:R5W;ENSP00000409762:R5W;ENSP00000378268:R5W;ENSP00000415743:R5W;ENSP00000416388:R5W;ENSP00000411411:R5W;ENSP00000407690:R5W;ENSP00000392298:R5W;ENSP00000439543:R5W;ENSP00000441956:R5W;ENSP00000401863:R5W	.	R	+	1	2	CD36	80114005	0.000000	0.05858	0.063000	0.19743	0.237000	0.25408	-0.259000	0.08721	0.215000	0.20761	0.655000	0.94253	CGG		0.468	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		50	53	0	0	0	1	0	50	53				
SF3B1	23451	broad.mit.edu	37	2	198274672	198274672	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:198274672G>A	ENST00000335508.6	-	7	817	c.726C>T	c.(724-726)agC>agT	p.S242S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	242	Interaction with PPP1R8.|U2AF homology region; mediates interaction with RMB39.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGGAGTCTCGCTTCCCTTTG	0.512			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(724-726)agC>agT		splicing factor 3b, subunit 1, 155kDa							118.0	112.0	114.0					2																	198274672		2203	4300	6503	SO:0001819	synonymous_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198274672G>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.726C>T	2.37:g.198274672G>A							p.S242S	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		7	817	-			242			Interaction with PPP1R8.		E9PCH3	Silent	SNP	ENST00000335508.6	37	c.726C>T	CCDS33356.1																																																																																				0.512	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			37	54	0	0	0	1	0	37	54				
ZC3H11A	9877	broad.mit.edu	37	1	203819736	203819736	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:203819736C>T	ENST00000545588.1	+	15	5860	c.2033C>T	c.(2032-2034)gCt>gTt	p.A678V	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.A678V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	678					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGCACGCTGCTGTCATTGCC	0.502																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2032-2034)gCt>gTt		zinc finger CCCH-type containing 11A							88.0	86.0	86.0					1																	203819736		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819736C>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2033C>T	1.37:g.203819736C>T	ENSP00000438527:p.Ala678Val					ZC3H11A_ENST00000367210.1_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.A678V|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.A678V	p.A678V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		15	5860	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		678					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2033C>T	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428072	0.96131	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.72	5.72	0.89469	.	0.160968	0.56097	D	0.000028	T	0.64080	0.2566	M	0.70595	2.14	0.42809	D	0.993959	D	0.57899	0.981	P	0.57324	0.818	T	0.60429	-0.7265	10	0.31617	T	0.26	-30.8921	18.6519	0.91433	0.0:1.0:0.0:0.0	.	678	O75152	ZC11A_HUMAN	V	678;624;678;678;678;678	ENSP00000356183:A678V;ENSP00000356181:A678V;ENSP00000333253:A678V;ENSP00000438527:A678V;ENSP00000356179:A678V	ENSP00000333253:A678V	A	+	2	0	ZC3H11A	202086359	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.131000	0.71670	2.704000	0.92352	0.655000	0.94253	GCT		0.502	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		29	40	0	0	0	1	0	29	40				
MIR7-3HG	284424	broad.mit.edu	37	19	4770703	4770703	+	lincRNA	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:4770703A>G	ENST00000586721.1	+	0	509				MIR7-3_ENST00000384898.1_RNA			Q8N6C7	PGSF1_HUMAN	MIR7-3 host gene (non-protein coding)																		GCTGTGGTCTAGTGCTGTGTG	0.532																																						ENST00000586721.1																			0																				303.0	293.0	296.0					19																	4770703		1568	3582	5150			0							g.chr19:4770703A>G	AB058892		19p13.3	2014-03-17	2011-09-01	2011-09-01	ENSG00000176840	ENSG00000176840		"""Long non-coding RNAs"""	30049	non-coding RNA	RNA, long non-coding	"""pituitary gland specific factor 1a"", ""pituitary gland specific factor 1b"""		"""chromosome 19 open reading frame 30"", ""non-protein coding RNA 306"", ""long intergenic non-protein coding RNA 306"""	C19orf30, NCRNA00306, LINC00306		11854097	Standard	NR_027148		Approved	PGSF1, PGSF1a, PGSF1b, Huh7, uc002mbe.2	uc010xii.2	Q8N6C7	OTTHUMG00000150589		19.37:g.4770703A>G						MIR7-3_ENST00000384898.1_RNA								0	509	+								D6W630|Q17RJ9|Q8N6C6	RNA	SNP	ENST00000586721.1	37																																																																																						0.532	MIR7-3HG-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000459345.1	NR_027148		83	149	0	0	0	1	0	83	149				
ZYX	7791	broad.mit.edu	37	7	143087016	143087016	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:143087016T>C	ENST00000322764.5	+	9	1905	c.1560T>C	c.(1558-1560)acT>acC	p.T520T	ZYX_ENST00000392910.2_Silent_p.T363T|EPHA1_ENST00000458129.1_5'Flank|ZYX_ENST00000449423.2_Silent_p.T433T	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	520	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GAGATGAGACTGTGCGAGTGG	0.602																																						ENST00000322764.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(1558-1560)acT>acC		zyxin							127.0	105.0	113.0					7																	143087016		2203	4300	6503	SO:0001819	synonymous_variant	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143087016T>C	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1560T>C	7.37:g.143087016T>C						ZYX_ENST00000392910.2_Silent_p.T363T|ZYX_ENST00000449423.2_Silent_p.T433T	p.T520T	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN			9	1905	+	Melanoma(164;0.205)		520			LIM zinc-binding 3.		A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	37	c.1560T>C	CCDS5883.1																																																																																				0.602	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		37	42	0	0	0	1	0	37	42				
FOCAD	54914	broad.mit.edu	37	9	20758097	20758097	+	Missense_Mutation	SNP	C	C	A	rs143814736	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:20758097C>A	ENST00000380249.1	+	8	765	c.401C>A	c.(400-402)cCt>cAt	p.P134H	FOCAD_ENST00000338382.6_Missense_Mutation_p.P134H	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	134						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AGAAATCATCCTCATCCTTTG	0.433																																						ENST00000380249.1																			0											c.(400-402)cCt>cAt		focadhesin							112.0	100.0	104.0					9																	20758097		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20758097C>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.401C>A	9.37:g.20758097C>A	ENSP00000369599:p.Pro134His					FOCAD_ENST00000338382.6_Missense_Mutation_p.P134H	p.P134H	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			8	765	+			134					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.401C>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145877	0.57044	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.22336	1.96;1.96	5.37	4.38	0.52667	Domain of unknown function DUF3730 (1);	0.053540	0.85682	D	0.000000	T	0.18718	0.0449	N	0.24115	0.695	0.53688	D	0.999976	B	0.33477	0.413	B	0.38616	0.277	T	0.07635	-1.0762	10	0.54805	T	0.06	-0.404	14.8219	0.70080	0.1533:0.8467:0.0:0.0	.	134	Q5VW36	K1797_HUMAN	H	134	ENSP00000369599:P134H;ENSP00000344307:P134H	ENSP00000344307:P134H	P	+	2	0	KIAA1797	20748097	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.629000	0.54266	2.521000	0.84997	0.555000	0.69702	CCT		0.433	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		16	22	1	0	1.15088e-07	1	1.20157e-07	16	22				
AGXT	189	broad.mit.edu	37	2	241808756	241808756	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:241808756C>T	ENST00000307503.3	+	2	722	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	112			A -> D (in HP1). {ECO:0000269|PubMed:12559847}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GGGCAGCGAGCCGTGGACATC	0.647																																						ENST00000307503.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18	GRCh37	CM034083	AGXT	M		c.(334-336)gCc>gTc		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						62.0	62.0	62.0					2																	241808756		2203	4300	6503	SO:0001583	missense	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241808756C>T	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.335C>T	2.37:g.241808756C>T	ENSP00000302620:p.Ala112Val						p.A112V	NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	2	722	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	112		A -> D (in HP1).			Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	c.335C>T	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	C	4.658	0.122260	0.08931	.	.	ENSG00000172482	ENST00000307503	D	0.87809	-2.3	4.12	3.21	0.36854	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.231489	0.42964	D	0.000638	T	0.81508	0.4837	L	0.55481	1.735	0.58432	D	0.999998	P;P	0.47910	0.902;0.683	B;B	0.38194	0.267;0.267	T	0.80578	-0.1320	10	0.28530	T	0.3	-18.9249	12.6214	0.56605	0.0:0.9131:0.0:0.0869	.	112;112	B7Z548;P21549	.;SPYA_HUMAN	V	112	ENSP00000302620:A112V	ENSP00000302620:A112V	A	+	2	0	AGXT	241457429	0.914000	0.31030	0.665000	0.29768	0.337000	0.28794	1.719000	0.38011	2.007000	0.58848	0.591000	0.81541	GCC		0.647	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		41	41	0	0	0	1	0	41	41				
SUPT5H	6829	broad.mit.edu	37	19	39963560	39963560	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:39963560C>T	ENST00000599117.1	+	23	2513	c.2146C>T	c.(2146-2148)Ccc>Tcc	p.P716S	SUPT5H_ENST00000598725.1_Missense_Mutation_p.P716S|SUPT5H_ENST00000432763.2_Missense_Mutation_p.P716S|SUPT5H_ENST00000359191.6_Missense_Mutation_p.P712S|SUPT5H_ENST00000402194.2_Missense_Mutation_p.P712S			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	716	KOW 5.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCCCAGGGGCCCTACAAAGG	0.682																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2146-2148)Ccc>Tcc		suppressor of Ty 5 homolog (S. cerevisiae)							40.0	41.0	40.0					19																	39963560		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39963560C>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2146C>T	19.37:g.39963560C>T	ENSP00000470252:p.Pro716Ser					SUPT5H_ENST00000402194.2_Missense_Mutation_p.P712S|SUPT5H_ENST00000432763.2_Missense_Mutation_p.P716S|SUPT5H_ENST00000598725.1_Missense_Mutation_p.P716S|SUPT5H_ENST00000359191.6_Missense_Mutation_p.P712S	p.P716S			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		23	2513	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		716			KOW 5.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.2146C>T	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085725	0.76642	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.59	4.59	0.56863	KOW (2);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	L	0.53249	1.67	0.80722	D	1	P;D;P;P	0.89917	0.744;1.0;0.812;0.844	P;D;P;P	0.73708	0.644;0.981;0.607;0.728	T	0.74016	-0.3800	8	.	.	.	-16.8993	16.1699	0.81801	0.0:1.0:0.0:0.0	.	694;508;712;716	B4DZJ7;B4DJK4;O00267-2;O00267	.;.;.;SPT5H_HUMAN	S	716;712;694;716	.	.	P	+	1	0	SUPT5H	44655400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.623000	0.67757	2.093000	0.63338	0.557000	0.71058	CCC		0.682	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		23	41	0	0	0	1	0	23	41				
CLSTN3	9746	broad.mit.edu	37	12	7301617	7301617	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:7301617G>A	ENST00000266546.6	+	13	2347	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	CLSTN3_ENST00000537408.1_Missense_Mutation_p.V645M	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	633					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGAGGGCTACGTGGTCGTCCT	0.587																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(1933-1935)Gtg>Atg		calsyntenin 3							93.0	71.0	79.0					12																	7301617		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7301617G>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1897G>A	12.37:g.7301617G>A	ENSP00000266546:p.Val633Met					CLSTN3_ENST00000266546.6_Missense_Mutation_p.V633M	p.V645M			Q9BQT9	CSTN3_HUMAN			12	2471	+			633					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.1933G>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433046	0.83776	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.52983	0.64;0.64	5.56	4.64	0.57946	.	0.162026	0.41712	D	0.000834	T	0.58977	0.2160	M	0.68952	2.095	0.49582	D	0.9998	P;D	0.59357	0.813;0.985	B;P	0.56648	0.108;0.803	T	0.62732	-0.6792	10	0.87932	D	0	-22.7778	11.431	0.50041	0.0:0.1355:0.7237:0.1408	.	645;633	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	M	633;645	ENSP00000266546:V633M;ENSP00000440679:V645M	ENSP00000266546:V633M	V	+	1	0	CLSTN3	7192884	0.997000	0.39634	0.997000	0.53966	0.907000	0.53573	2.697000	0.47060	2.618000	0.88619	0.561000	0.74099	GTG		0.587	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		19	34	0	0	0	1	0	19	34				
ZNF704	619279	broad.mit.edu	37	8	81553673	81553673	+	Silent	SNP	G	G	A	rs548706663		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:81553673G>A	ENST00000327835.3	-	9	1398	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	389							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCTCCATCCCGTACACCTTCC	0.572																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1165-1167)taC>taT		zinc finger protein 704							89.0	68.0	75.0					8																	81553673		2203	4300	6503	SO:0001819	synonymous_variant	619279					intracellular	zinc ion binding	g.chr8:81553673G>A	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.1167C>T	8.37:g.81553673G>A							p.Y389Y	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		9	1398	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		389					B2RNE6|B9EGW6	Silent	SNP	ENST00000327835.3	37	c.1167C>T	CCDS34913.1																																																																																				0.572	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		12	64	0	0	0	1	0	12	64				
NCKAP5	344148	broad.mit.edu	37	2	133541791	133541791	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:133541791T>C	ENST00000409261.1	-	14	2966	c.2593A>G	c.(2593-2595)Att>Gtt	p.I865V	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.I865V|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	865										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGTTTTGGAATGTGTGGATCT	0.537																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(2593-2595)Att>Gtt		NCK-associated protein 5							77.0	78.0	78.0					2																	133541791		1965	4151	6116	SO:0001583	missense	344148						protein binding	g.chr2:133541791T>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2593A>G	2.37:g.133541791T>C	ENSP00000387128:p.Ile865Val					NCKAP5_ENST00000317721.6_Missense_Mutation_p.I865V|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	p.I865V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	2966	-			865					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2593A>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	t	14.17	2.456762	0.43634	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11063	2.81;2.81	5.28	1.58	0.23477	.	0.620003	0.13163	N	0.408881	T	0.05410	0.0143	N	0.19112	0.55	0.80722	D	1	B	0.28082	0.2	B	0.25506	0.061	T	0.40739	-0.9547	10	0.15066	T	0.55	.	4.1982	0.10453	0.1419:0.2435:0.0:0.6146	.	865	O14513	NCKP5_HUMAN	V	865	ENSP00000387128:I865V;ENSP00000380603:I865V	ENSP00000380603:I865V	I	-	1	0	NCKAP5	133258261	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	0.773000	0.26661	0.120000	0.18254	-0.270000	0.10280	ATT		0.537	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		42	71	0	0	0	1	0	42	71				
PLEKHG4B	153478	broad.mit.edu	37	5	155041	155041	+	Nonsense_Mutation	SNP	C	C	T	rs373010753		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:155041C>T	ENST00000283426.6	+	6	1026	c.976C>T	c.(976-978)Cag>Tag	p.Q326*		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	326							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGACAGCTGCCAGCTGACCGC	0.577																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(976-978)Cag>Tag		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B		C	stop/GLN	1,4405		0,1,2202	94.0	82.0	86.0		976	3.9	1.0	5		86	0,8600		0,0,4300	no	stop-gained	PLEKHG4B	NM_052909.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		326/1272	155041	1,13005	2203	4300	6503	SO:0001587	stop_gained	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:155041C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.976C>T	5.37:g.155041C>T	ENSP00000283426:p.Gln326*						p.Q326*	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	6	1026	+			326						Nonsense_Mutation	SNP	ENST00000283426.6	37	c.976C>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	14.44	2.534703	0.45073	2.27E-4	0.0	ENSG00000153404	ENST00000283426;ENST00000502646	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.4184	0.49967	0.0:1.0:0.0:0.0	.	.	.	.	X	326;240	.	ENSP00000283426:Q326X	Q	+	1	0	PLEKHG4B	208041	0.997000	0.39634	0.990000	0.47175	0.129000	0.20672	4.607000	0.61133	1.717000	0.51406	0.460000	0.39030	CAG		0.577	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		36	39	0	0	0	1	0	36	39				
TRANK1	9881	broad.mit.edu	37	3	36873408	36873408	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:36873408A>G	ENST00000429976.2	-	21	7781	c.7534T>C	c.(7534-7536)Tcg>Ccg	p.S2512P	TRANK1_ENST00000428977.2_Missense_Mutation_p.S1962P|TRANK1_ENST00000301807.6_Missense_Mutation_p.S1962P	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2512							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCCTCACCCGAGACCACATAG	0.527																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(7534-7536)Tcg>Ccg		tetratricopeptide repeat and ankyrin repeat containing 1							120.0	123.0	122.0					3																	36873408		2164	4274	6438	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873408A>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7534T>C	3.37:g.36873408A>G	ENSP00000416168:p.Ser2512Pro					TRANK1_ENST00000301807.6_Missense_Mutation_p.S1962P|TRANK1_ENST00000428977.2_Missense_Mutation_p.S1962P	p.S2512P			O15050	TRNK1_HUMAN			21	7781	-			2512					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.7534T>C	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	A	16.71	3.197744	0.58126	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.37584	1.19;1.6;1.19	4.9	4.9	0.64082	.	0.000000	0.47093	D	0.000241	T	0.59459	0.2195	M	0.69823	2.125	0.40569	D	0.98128	D	0.76494	0.999	D	0.83275	0.996	T	0.65763	-0.6089	10	0.87932	D	0	.	14.8348	0.70175	1.0:0.0:0.0:0.0	.	2512	O15050	TRNK1_HUMAN	P	1962;2512;1962	ENSP00000416826:S1962P;ENSP00000416168:S2512P;ENSP00000301807:S1962P	ENSP00000301807:S1962P	S	-	1	0	TRANK1	36848412	1.000000	0.71417	0.919000	0.36401	0.779000	0.44077	6.778000	0.75043	1.960000	0.56953	0.459000	0.35465	TCG		0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		54	74	0	0	0	1	0	54	74				
COL4A6	1288	broad.mit.edu	37	X	107420159	107420159	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:107420159G>A	ENST00000372216.4	-	28	2701	c.2601C>T	c.(2599-2601)ggC>ggT	p.G867G	COL4A6_ENST00000538570.1_Silent_p.G866G|COL4A6_ENST00000394872.2_Silent_p.G867G|COL4A6_ENST00000545689.1_Silent_p.G866G|COL4A6_ENST00000334504.7_Silent_p.G866G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	867	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTCCAGGAAGGCCTTTTAGCC	0.532									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(2596-2598)ggC>ggT		collagen, type IV, alpha 6							140.0	138.0	139.0					X																	107420159		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107420159G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2601C>T	X.37:g.107420159G>A						COL4A6_ENST00000372216.4_Silent_p.G867G|COL4A6_ENST00000545689.1_Silent_p.G866G|COL4A6_ENST00000394872.2_Silent_p.G867G|COL4A6_ENST00000538570.1_Silent_p.G866G	p.G866G	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			28	2831	-			867			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.2598C>T	CCDS14541.1																																																																																				0.532	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			89	164	0	0	0	1	0	89	164				
EPS15L1	58513	broad.mit.edu	37	19	16528892	16528892	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:16528892G>A	ENST00000248070.6	-	11	1113	c.974C>T	c.(973-975)aCg>aTg	p.T325M	EPS15L1_ENST00000597937.1_Missense_Mutation_p.T325M|EPS15L1_ENST00000602009.1_Missense_Mutation_p.T171M|EPS15L1_ENST00000594975.1_Missense_Mutation_p.T325M|EPS15L1_ENST00000535753.2_Missense_Mutation_p.T325M|EPS15L1_ENST00000455140.2_Missense_Mutation_p.T325M	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	325	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TAACTTCCCCGTTTGCCTCGT	0.537											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000602009.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(511-513)aCg>aTg		epidermal growth factor receptor pathway substrate 15-like 1							190.0	137.0	155.0					19																	16528892		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16528892G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.974C>T	19.37:g.16528892G>A	ENSP00000248070:p.Thr325Met		OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	711	EPS15L1_ENST00000535753.2_Missense_Mutation_p.T325M|EPS15L1_ENST00000594975.1_Missense_Mutation_p.T325M|EPS15L1_ENST00000248070.6_Missense_Mutation_p.T325M|EPS15L1_ENST00000455140.2_Missense_Mutation_p.T325M|EPS15L1_ENST00000597937.1_Missense_Mutation_p.T325M	p.T171M			Q9UBC2	EP15R_HUMAN			5	1407	-			325			EF-hand.|EH 2.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.512C>T	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801080	0.31869	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.29917	1.55;1.55;1.55	4.55	3.49	0.39957	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.221003	0.46442	N	0.000297	T	0.23094	0.0558	L	0.39633	1.23	0.38241	D	0.941316	B;B;B;B;B;B	0.33512	0.154;0.067;0.126;0.415;0.075;0.158	B;B;B;B;B;B	0.33121	0.082;0.067;0.12;0.158;0.072;0.092	T	0.11542	-1.0583	10	0.54805	T	0.06	.	7.2046	0.25899	0.2496:0.0:0.7504:0.0	.	325;325;324;325;325;325	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	M	325	ENSP00000393313:T325M;ENSP00000248070:T325M;ENSP00000440103:T325M	ENSP00000248070:T325M	T	-	2	0	EPS15L1	16389892	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.888000	0.28268	1.059000	0.40554	0.655000	0.94253	ACG		0.537	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		27	43	0	0	0	1	0	27	43				
CDC42BPB	9578	broad.mit.edu	37	14	103465909	103465909	+	Missense_Mutation	SNP	C	C	T	rs147856179		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:103465909C>T	ENST00000361246.2	-	5	877	c.589G>A	c.(589-591)Gtg>Atg	p.V197M		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TACCTGTGCACGTAATGAAGC	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20030	0.0		0.001	False		,,,				2504	0.0					ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(589-591)Gtg>Atg		CDC42 binding protein kinase beta (DMPK-like)							123.0	113.0	116.0					14																	103465909		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103465909C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.589G>A	14.37:g.103465909C>T	ENSP00000355237:p.Val197Met						p.V197M	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	5	877	-		Melanoma(154;0.155)	197			Protein kinase.			Missense_Mutation	SNP	ENST00000361246.2	37	c.589G>A	CCDS9978.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.70	3.876263	0.72180	.	.	ENSG00000198752	ENST00000361246	T	0.49720	0.77	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);	0.061993	0.64402	D	0.000004	T	0.69106	0.3074	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73142	-0.4076	10	0.87932	D	0	.	18.5862	0.91189	0.0:1.0:0.0:0.0	.	197	Q9Y5S2	MRCKB_HUMAN	M	197	ENSP00000355237:V197M	ENSP00000355237:V197M	V	-	1	0	CDC42BPB	102535662	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	4.816000	0.62642	2.465000	0.83290	0.655000	0.94253	GTG		0.463	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		41	78	0	0	0	1	0	41	78				
ARL14EP	120534	broad.mit.edu	37	11	30354531	30354531	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:30354531G>A	ENST00000282032.3	+	3	760	c.545G>A	c.(544-546)gGt>gAt	p.G182D		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	182						cytoplasm (GO:0005737)											GCAACCGCTGGTTCAGACAGG	0.378																																						ENST00000282032.3																			0											c.(544-546)gGt>gAt		ADP-ribosylation factor-like 14 effector protein							61.0	59.0	60.0					11																	30354531		2202	4299	6501	SO:0001583	missense	120534							g.chr11:30354531G>A	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.545G>A	11.37:g.30354531G>A	ENSP00000282032:p.Gly182Asp						p.G182D	NM_152316.1	NP_689529.1					3	760	+								Q5HYH9	Missense_Mutation	SNP	ENST00000282032.3	37	c.545G>A	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314553	0.23908	.	.	ENSG00000152219	ENST00000282032	T	0.63096	-0.02	5.44	3.15	0.36227	.	0.565566	0.18930	N	0.127240	T	0.32224	0.0822	N	0.08118	0	0.23754	N	0.996935	B	0.11235	0.004	B	0.16289	0.015	T	0.11084	-1.0602	10	0.12430	T	0.62	-11.7683	2.8293	0.05495	0.2532:0.2795:0.4673:0.0	.	182	Q8N8R7	CK046_HUMAN	D	182	ENSP00000282032:G182D	ENSP00000282032:G182D	G	+	2	0	C11orf46	30311107	1.000000	0.71417	0.954000	0.39281	0.560000	0.35617	2.684000	0.46951	1.414000	0.47017	0.655000	0.94253	GGT		0.378	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		26	33	0	0	0	1	0	26	33				
FAM53B	9679	broad.mit.edu	37	10	126312029	126312029	+	Missense_Mutation	SNP	C	C	T	rs200397847	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:126312029C>T	ENST00000337318.3	-	5	1262	c.1051G>A	c.(1051-1053)Gct>Act	p.A351T	FAM53B_ENST00000392754.3_Missense_Mutation_p.A351T|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	351										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GGGGTCCCAGCGGGGGTCCTG	0.706													C|||	4	0.000798722	0.003	0.0	5008	,	,		14896	0.0		0.0	False		,,,				2504	0.0					ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(1051-1053)Gct>Act		family with sequence similarity 53, member B		C	THR/ALA	5,4365		0,5,2180	10.0	11.0	11.0		1051	3.3	0.3	10		11	1,8519		0,1,4259	yes	missense	FAM53B	NM_014661.3	58	0,6,6439	TT,TC,CC		0.0117,0.1144,0.0465	probably-damaging	351/423	126312029	6,12884	2185	4260	6445	SO:0001583	missense	9679							g.chr10:126312029C>T	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1051G>A	10.37:g.126312029C>T	ENSP00000338532:p.Ala351Thr					FAM53B_ENST00000392754.3_Missense_Mutation_p.A351T|RP11-12J10.3_ENST00000494792.1_Intron	p.A351T	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1262	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	351					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1051G>A	CCDS7641.1	5	0.0022893772893772895	3	0.006097560975609756	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	16.78	3.216642	0.58452	0.001144	1.17E-4	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.18	3.29	0.37713	.	0.308493	0.29830	N	0.011089	T	0.30448	0.0765	L	0.47716	1.5	0.19300	N	0.999971	B	0.18968	0.032	B	0.14578	0.011	T	0.31530	-0.9940	9	0.62326	D	0.03	-28.1662	8.4521	0.32877	0.0:0.7649:0.1538:0.0812	.	351	Q14153	FA53B_HUMAN	T	351	.	ENSP00000338532:A351T	A	-	1	0	FAM53B	126302019	0.990000	0.36364	0.255000	0.24374	0.889000	0.51656	2.982000	0.49337	0.737000	0.32582	-0.119000	0.15052	GCT		0.706	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		5	17	0	0	0	1	0	5	17				
PI4KB	5298	broad.mit.edu	37	1	151261869	151261869	+	IGR	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:151261869C>T	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Silent_p.C829C			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTACAAGTGCGCCATGTGCG	0.612																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(2485-2487)tgC>tgT		zinc finger protein 687							188.0	152.0	164.0					1																	151261869		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151261869C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151261869C>T							p.C829C	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	2585	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		829					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.2487C>T		.	.	.	.	.	.	.	.	.	.	C	3.833	-0.035318	0.07497	.	.	ENSG00000143373	ENST00000426871	.	.	.	5.13	1.19	0.21007	.	.	.	.	.	T	0.40398	0.1115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25293	-1.0136	4	.	.	.	-15.8992	7.9778	0.30166	0.0:0.4789:0.0:0.5211	.	.	.	.	V	432	.	.	A	+	2	0	ZNF687	149528493	0.002000	0.14202	0.999000	0.59377	0.662000	0.39071	-1.240000	0.02914	0.062000	0.16340	0.561000	0.74099	GCG		0.612	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		64	86	0	0	0	1	0	64	86				
CNPPD1	27013	broad.mit.edu	37	2	220037432	220037432	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:220037432G>C	ENST00000409789.1	-	9	1536	c.1109C>G	c.(1108-1110)aCc>aGc	p.T370S	SLC23A3_ENST00000409878.3_5'Flank|SLC23A3_ENST00000455516.2_5'Flank|CNPPD1_ENST00000360507.5_Missense_Mutation_p.T370S|SLC23A3_ENST00000295738.7_5'Flank|SLC23A3_ENST00000396775.3_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	370	Pro-rich.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CAGGCCATAGGTATGGTACCA	0.617																																						ENST00000409789.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						c.(1108-1110)aCc>aGc		cyclin Pas1/PHO80 domain containing 1							54.0	55.0	55.0					2																	220037432		2203	4300	6503	SO:0001583	missense	27013				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	g.chr2:220037432G>C	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.1109C>G	2.37:g.220037432G>C	ENSP00000386277:p.Thr370Ser					CNPPD1_ENST00000360507.5_Missense_Mutation_p.T370S	p.T370S			Q9BV87	CNPD1_HUMAN			9	1536	-			370			Pro-rich.		B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	37	c.1109C>G	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638557	0.00799	.	.	ENSG00000115649	ENST00000360507;ENST00000409789	T;T	0.14144	2.53;2.53	5.04	4.13	0.48395	.	1.124130	0.06403	N	0.719218	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21280	-1.0250	10	0.07482	T	0.82	-8.5775	11.6583	0.51330	0.0:0.0:0.6797:0.3203	.	370	Q9BV87	CNPD1_HUMAN	S	370	ENSP00000353698:T370S;ENSP00000386277:T370S	ENSP00000353698:T370S	T	-	2	0	CNPPD1	219745676	0.187000	0.23238	0.003000	0.11579	0.346000	0.29079	1.636000	0.37144	1.287000	0.44583	0.655000	0.94253	ACC		0.617	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		31	24	0	0	0	1	0	31	24				
FAM71E1	112703	broad.mit.edu	37	19	50979571	50979571	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:50979571G>T	ENST00000600100.1	-	1	439	c.75C>A	c.(73-75)ctC>ctA	p.L25L	EMC10_ENST00000376918.3_5'Flank|FAM71E1_ENST00000595790.1_Silent_p.L25L|EMC10_ENST00000598585.1_5'Flank|EMC10_ENST00000334976.6_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	25										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		CGTCACACAAGAGCGGGCTCC	0.662																																						ENST00000600100.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(73-75)ctC>ctA		family with sequence similarity 71, member E1							38.0	40.0	39.0					19																	50979571		2200	4293	6493	SO:0001819	synonymous_variant	112703							g.chr19:50979571G>T		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.75C>A	19.37:g.50979571G>T						FAM71E1_ENST00000595790.1_Silent_p.L25L	p.L25L			Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	1	439	-		all_neural(266;0.131)	25					Q96EJ5|Q9BSM9	Silent	SNP	ENST00000600100.1	37	c.75C>A																																																																																					0.662	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			17	28	1	0	3.52763e-06	1	3.63969e-06	17	28				
ATP6V0A2	23545	broad.mit.edu	37	12	124228411	124228411	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:124228411A>G	ENST00000330342.3	+	10	1366	c.1118A>G	c.(1117-1119)aAc>aGc	p.N373S		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	373					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATCCGCACCAACAAATTCACC	0.453																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1117-1119)aAc>aGc		ATPase, H+ transporting, lysosomal V0 subunit a2							120.0	120.0	120.0					12																	124228411		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124228411A>G	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1118A>G	12.37:g.124228411A>G	ENSP00000332247:p.Asn373Ser						p.N373S	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	10	1366	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		373					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.1118A>G	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.271135	0.59649	.	.	ENSG00000185344	ENST00000330342;ENST00000504192	D;D	0.87491	-2.26;-2.26	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.91975	0.7458	M	0.86864	2.845	0.80722	D	1	P	0.39131	0.661	P	0.48227	0.571	D	0.93125	0.6528	10	0.87932	D	0	-37.8602	15.4018	0.74845	1.0:0.0:0.0:0.0	.	373	Q9Y487	VPP2_HUMAN	S	373;243	ENSP00000332247:N373S;ENSP00000443441:N243S	ENSP00000332247:N373S	N	+	2	0	ATP6V0A2	122794364	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	9.269000	0.95684	2.033000	0.60031	0.459000	0.35465	AAC		0.453	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		14	160	0	0	0	1	0	14	160				
SMU1	55234	broad.mit.edu	37	9	33053232	33053232	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:33053232G>A	ENST00000397149.3	-	10	1229	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	SMU1_ENST00000536631.1_Silent_p.T232T	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	393						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CTGTCCCTGCGGTGCTGCCCA	0.398																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(1177-1179)acC>acT		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							127.0	117.0	121.0					9																	33053232		2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33053232G>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.1179C>T	9.37:g.33053232G>A						SMU1_ENST00000536631.1_Silent_p.T232T	p.T393T	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	10	1229	-			393					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.1179C>T	CCDS6534.1																																																																																				0.398	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		38	47	0	0	0	1	0	38	47				
JAKMIP1	152789	broad.mit.edu	37	4	6031488	6031488	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:6031488G>A	ENST00000409021.3	-	20	2849	c.2400C>T	c.(2398-2400)gaC>gaT	p.D800D	JAKMIP1_ENST00000409371.3_Silent_p.D615D	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTCCAGTTTGTCCTCCAGTT	0.418																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2398-2400)gaC>gaT		janus kinase and microtubule interacting protein 1							99.0	91.0	93.0					4																	6031488		1846	4101	5947	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6031488G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2400C>T	4.37:g.6031488G>A						JAKMIP1_ENST00000409371.3_Silent_p.D615D	p.D800D	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			20	2849	-			571					A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000409021.3	37	c.2400C>T	CCDS47005.1	.	.	.	.	.	.	.	.	.	.	G	5.463	0.270413	0.10349	.	.	ENSG00000152969	ENST00000418227	.	.	.	4.68	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	3.4465	0.07482	0.3196:0.0:0.4837:0.1967	.	.	.	.	X	390	.	ENSP00000406526:Q390X	Q	-	1	0	JAKMIP1	6082389	0.992000	0.36948	0.648000	0.29521	0.604000	0.37047	0.666000	0.25097	0.446000	0.26666	0.655000	0.94253	CAA		0.418	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720		5	9	0	0	0	1	0	5	9				
ALOX15	246	broad.mit.edu	37	17	4534907	4534907	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4534907A>G	ENST00000570836.1	-	15	2073	c.1977T>C	c.(1975-1977)agT>agC	p.S659S	ALOX15_ENST00000574640.1_Silent_p.S620S|ALOX15_ENST00000293761.3_Silent_p.S659S|ALOX15_ENST00000545513.1_Silent_p.S681S			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	659	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		AGATGGCCACACTGTTTTCCA	0.577																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1975-1977)agT>agC		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						124.0	109.0	114.0					17																	4534907		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4534907A>G	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1977T>C	17.37:g.4534907A>G						ALOX15_ENST00000545513.1_Silent_p.S681S|ALOX15_ENST00000293761.3_Silent_p.S659S|ALOX15_ENST00000574640.1_Silent_p.S620S	p.S659S			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	15	2073	-			659			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.1977T>C	CCDS11049.1																																																																																				0.577	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			40	59	0	0	0	1	0	40	59				
PRKD3	23683	broad.mit.edu	37	2	37506904	37506904	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:37506904G>A	ENST00000379066.1	-	8	1919	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	PRKD3_ENST00000234179.2_Missense_Mutation_p.A386V			O94806	KPCD3_HUMAN	protein kinase D3	386					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGTTTTAACGGCTTCTTCATC	0.408																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1156-1158)gCc>gTc		protein kinase D3							83.0	84.0	84.0					2																	37506904		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37506904G>A	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1157C>T	2.37:g.37506904G>A	ENSP00000368356:p.Ala386Val					PRKD3_ENST00000234179.2_Missense_Mutation_p.A386V	p.A386V			O94806	KPCD3_HUMAN			8	1919	-		all_hematologic(82;0.21)	386					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1157C>T	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664492	0.67700	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.66099	-0.19;-0.19	5.79	5.79	0.91817	.	0.418608	0.26631	N	0.023314	T	0.52773	0.1755	L	0.29908	0.895	0.40626	D	0.981813	B;B	0.10296	0.003;0.001	B;B	0.13407	0.009;0.007	T	0.44498	-0.9324	10	0.26408	T	0.33	-2.2646	18.196	0.89822	0.0:0.0:1.0:0.0	.	386;386	O94806-2;O94806	.;KPCD3_HUMAN	V	386	ENSP00000368356:A386V;ENSP00000234179:A386V	ENSP00000234179:A386V	A	-	2	0	PRKD3	37360408	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	9.060000	0.93907	2.742000	0.94016	0.591000	0.81541	GCC		0.408	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		21	58	0	0	0	1	0	21	58				
DENND3	22898	broad.mit.edu	37	8	142148219	142148219	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:142148219T>C	ENST00000262585.2	+	3	522	c.244T>C	c.(244-246)Tac>Cac	p.Y82H	DENND3_ENST00000424248.1_Missense_Mutation_p.Y82H|DENND3_ENST00000518347.1_Missense_Mutation_p.Y162H|DENND3_ENST00000519811.1_Missense_Mutation_p.Y162H	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	82	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGGCCCAGTACTACCGGCC	0.512																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(484-486)Tac>Cac		DENN/MADD domain containing 3							117.0	83.0	94.0					8																	142148219		2203	4299	6502	SO:0001583	missense	22898							g.chr8:142148219T>C	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.244T>C	8.37:g.142148219T>C	ENSP00000262585:p.Tyr82His					DENND3_ENST00000518347.1_Missense_Mutation_p.Y162H|DENND3_ENST00000262585.2_Missense_Mutation_p.Y82H|DENND3_ENST00000424248.1_Missense_Mutation_p.Y82H	p.Y162H			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		3	554	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		82			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.484T>C	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.172518|4.172518	0.78452|0.78452	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	.|T;T;T;T;T	.|0.55413	.|2.85;2.48;2.83;1.14;0.52	5.29|5.29	5.29|5.29	0.74685|0.74685	.|uDENN (2);	.|0.328412	.|0.35096	.|N	.|0.003455	T|T	0.71600|0.71600	0.3359|0.3359	M|M	0.71581|0.71581	2.175|2.175	0.41483|0.41483	D|D	0.988171|0.988171	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.995;0.995;0.969;0.999	T|T	0.76002|0.76002	-0.3118|-0.3118	5|10	.|0.87932	.|D	.|0	-17.4957|-17.4957	15.208|15.208	0.73195|0.73195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|162;82;162;162	.|E9PF32;A2RUS2;E5RHH2;E5RIR7	.|.;DEND3_HUMAN;.;.	A|H	138|95;162;82;82;162;162;162	.|ENSP00000262585:Y82H;ENSP00000410594:Y82H;ENSP00000428714:Y162H;ENSP00000429780:Y162H;ENSP00000430786:Y162H	.|ENSP00000262585:Y82H	V|Y	+|+	2|1	0|0	DENND3|DENND3	142217401|142217401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	6.048000|6.048000	0.71046|0.71046	1.975000|1.975000	0.57531|0.57531	0.528000|0.528000	0.53228|0.53228	GTA|TAC		0.512	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		4	30	0	0	0	1	0	4	30				
CFAP221	200373	broad.mit.edu	37	2	120388230	120388230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:120388230C>T	ENST00000413369.3	+	18	1903	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	PCDP1_ENST00000602047.1_Nonsense_Mutation_p.R320*	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					AAAGCTTGCCCGAGCCCTAAA	0.448																																						ENST00000602047.1																			0											c.(958-960)Cga>Tga									79.0	79.0	79.0					2																	120388230		2203	4300	6503	SO:0001587	stop_gained	0					cilium	calmodulin binding	g.chr2:120388230C>T																												ENST00000413369.3:c.1816C>T	2.37:g.120388230C>T	ENSP00000393222:p.Arg606*					PCDP1_ENST00000413369.3_Nonsense_Mutation_p.R606*	p.R320*			Q4G0U5	PCDP1_HUMAN			19	2070	+	Colorectal(110;0.196)		606						Nonsense_Mutation	SNP	ENST00000413369.3	37	c.958C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	37	6.440141	0.97568	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	.	.	.	4.85	3.98	0.46160	.	0.098086	0.43416	D	0.000561	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1539	9.0329	0.36269	0.0:0.8994:0.0:0.1006	.	.	.	.	X	320;606	.	ENSP00000295220:R320X	R	+	1	2	AC069154.2	120104700	0.923000	0.31300	0.890000	0.34922	0.914000	0.54420	1.841000	0.39240	1.256000	0.44068	0.563000	0.77884	CGA		0.448	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			27	31	0	0	0	1	0	27	31				
FBXO16	157574	broad.mit.edu	37	8	28314409	28314409	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:28314409C>T	ENST00000380254.2	-	5	529	c.381G>A	c.(379-381)caG>caA	p.Q127Q	RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000346498.2_Silent_p.Q115Q|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000518734.1_Silent_p.Q115Q|FBXO16_ENST00000517436.1_5'UTR	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	127	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GCATCCAGAGCTGGTCCAGCT	0.423																																						ENST00000380254.2																			0				large_intestine(2)|ovary(1)	3						c.(379-381)caG>caA		F-box protein 16							79.0	72.0	75.0					8																	28314409		2203	4300	6503	SO:0001819	synonymous_variant	157574							g.chr8:28314409C>T	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.381G>A	8.37:g.28314409C>T						FBXO16_ENST00000346498.2_Silent_p.Q115Q|FBXO16_ENST00000518734.1_Silent_p.Q115Q|FBXO16_ENST00000517436.1_5'UTR	p.Q127Q	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	5	529	-		Ovarian(32;2.06e-05)	127			F-box.		Q3T1B2|Q3T1B3|Q3T1B4	Silent	SNP	ENST00000380254.2	37	c.381G>A	CCDS6068.1																																																																																				0.423	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		89	27	0	0	0	1	0	89	27				
FAM135B	51059	broad.mit.edu	37	8	139189663	139189663	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:139189663C>T	ENST00000395297.1	-	11	1200	c.1030G>A	c.(1030-1032)Gtc>Atc	p.V344I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	344										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AACCTTCGGACCTGCAGAATA	0.373										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.e11-1		family with sequence similarity 135, member B							86.0	79.0	81.0					8																	139189663		1868	4102	5970	SO:0001630	splice_region_variant	51059							g.chr8:139189663C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1030-1G>A	8.37:g.139189663C>T		HNSCC(54;0.14)					p.V344_splice	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		11	1200	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		344					B5MDB3|O95879|Q2WGJ7|Q3KP46	Splice_Site	SNP	ENST00000395297.1	37	c.1029_splice	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873256	0.72180	.	.	ENSG00000147724	ENST00000395297	T	0.19669	2.13	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.47322	0.1439	M	0.73598	2.24	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.39375	-0.9617	10	0.49607	T	0.09	-19.2075	16.1375	0.81497	0.0:1.0:0.0:0.0	.	344	Q49AJ0	F135B_HUMAN	I	344	ENSP00000378710:V344I	ENSP00000276737:V344I	V	-	1	0	FAM135B	139258845	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.307000	0.78920	2.674000	0.91012	0.563000	0.77884	GTC		0.373	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	Missense_Mutation	13	26	0	0	0	1	0	13	26				
ZNF280D	54816	broad.mit.edu	37	15	56970921	56970921	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:56970921G>T	ENST00000267807.7	-	11	1319	c.1103C>A	c.(1102-1104)cCc>cAc	p.P368H	ZNF280D_ENST00000559000.1_Missense_Mutation_p.P355H|ZNF280D_ENST00000559237.1_Missense_Mutation_p.P355H|ZNF280D_ENST00000396245.1_Missense_Mutation_p.P72H	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AAATGGTGTGGGAAACTGACG	0.408																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(1063-1065)cCc>cAc		zinc finger protein 280D							250.0	204.0	220.0					15																	56970921		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56970921G>T	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1103C>A	15.37:g.56970921G>T	ENSP00000267807:p.Pro368His					ZNF280D_ENST00000396245.1_Missense_Mutation_p.P72H|ZNF280D_ENST00000559000.1_Missense_Mutation_p.P355H|ZNF280D_ENST00000267807.7_Missense_Mutation_p.P368H	p.P355H	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	10	1747	-			368					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.1064C>A	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926819	0.73327	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000260435;ENST00000396245	T;T	0.03441	3.93;4.41	5.23	5.23	0.72850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.908185	0.09185	N	0.836875	T	0.16981	0.0408	L	0.52206	1.635	0.40514	D	0.980762	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.01018	-1.1479	10	0.87932	D	0	-3.6974	17.7713	0.88493	0.0:0.0:1.0:0.0	.	431;368	B4DHL1;Q6N043	.;Z280D_HUMAN	H	368;355;204;72	ENSP00000267807:P368H;ENSP00000379545:P72H	ENSP00000260435:P204H	P	-	2	0	ZNF280D	54758213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.251000	0.78297	2.426000	0.82243	0.557000	0.71058	CCC		0.408	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		33	48	1	0	6.84511e-11	1	7.26775e-11	33	48				
CD300A	11314	broad.mit.edu	37	17	72470735	72470735	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:72470735T>C	ENST00000360141.3	+	3	732	c.444T>C	c.(442-444)ttT>ttC	p.F148F	CD300A_ENST00000392625.3_Silent_p.F35F|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Silent_p.F35F|CD300A_ENST00000577511.1_Silent_p.F18F	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	148					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CAACTGCATTTCCACCTGTAT	0.532																																						ENST00000360141.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						c.(442-444)ttT>ttC		CD300a molecule							223.0	162.0	183.0					17																	72470735		2203	4300	6503	SO:0001819	synonymous_variant	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72470735T>C	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.444T>C	17.37:g.72470735T>C						CD300A_ENST00000392625.3_Silent_p.F35F|CD300A_ENST00000310828.5_Silent_p.F35F|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Silent_p.F18F	p.F148F	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN			3	732	+			148					A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Silent	SNP	ENST00000360141.3	37	c.444T>C	CCDS32720.1																																																																																				0.532	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		49	69	0	0	0	1	0	49	69				
DPY19L2P2	349152	broad.mit.edu	37	7	102883486	102883486	+	RNA	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:102883486C>G	ENST00000312132.4	-	0	2623							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CCTCCCAGTTCAGTACCACTG	0.313																																						ENST00000312132.4																			0																																																			0							g.chr7:102883486C>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102883486C>G														0	2623	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.313	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	15	0	0	0	1	0	3	15				
IGF2R	3482	broad.mit.edu	37	6	160526039	160526039	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:160526039G>A	ENST00000356956.1	+	48	7547	c.7399G>A	c.(7399-7401)Gca>Aca	p.A2467T	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2467					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GTCCAGCTCTGCACAGCAGAA	0.597																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(7399-7401)Gca>Aca		insulin-like growth factor 2 receptor							86.0	71.0	76.0					6																	160526039		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160526039G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.7399G>A	6.37:g.160526039G>A	ENSP00000349437:p.Ala2467Thr					IGF2R_ENST00000475584.1_Intron	p.A2467T	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	48	7547	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2467					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.7399G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608691	0.28623	.	.	ENSG00000197081	ENST00000356956	T	0.08984	3.03	5.07	5.07	0.68467	.	0.843513	0.10868	N	0.625293	T	0.05181	0.0138	L	0.51422	1.61	0.09310	N	1	B	0.32245	0.361	B	0.25140	0.058	T	0.19063	-1.0317	10	0.56958	D	0.05	-0.0506	18.8388	0.92174	0.0:0.0:1.0:0.0	.	2467	P11717	MPRI_HUMAN	T	2467	ENSP00000349437:A2467T	ENSP00000349437:A2467T	A	+	1	0	IGF2R	160446029	0.027000	0.19231	0.000000	0.03702	0.061000	0.15899	2.263000	0.43293	2.518000	0.84900	0.655000	0.94253	GCA		0.597	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		17	40	0	0	0	1	0	17	40				
TGFBI	7045	broad.mit.edu	37	5	135392371	135392371	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:135392371T>C	ENST00000442011.2	+	12	1726	c.1565T>C	c.(1564-1566)aTc>aCc	p.I522T	TGFBI_ENST00000305126.8_Missense_Mutation_p.I522T|TGFBI_ENST00000508076.1_5'Flank	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	522	FAS1 4. {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)			GTAGCTGCCATCCAGTCTGCA	0.502																																						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.(1564-1566)aTc>aCc		transforming growth factor, beta-induced, 68kDa							99.0	102.0	101.0					5																	135392371		1981	4179	6160	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.chr5:135392371T>C	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.1565T>C	5.37:g.135392371T>C	ENSP00000416330:p.Ile522Thr					TGFBI_ENST00000305126.8_Missense_Mutation_p.I522T	p.I522T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		12	1726	+			522			FAS1 4.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1565T>C	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.376993	0.82682	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	D;D	0.91011	-2.77;-2.77	5.81	5.81	0.92471	FAS1 domain (4);	0.097389	0.64402	D	0.000001	D	0.96411	0.8829	M	0.92923	3.36	0.80722	D	1	D;D	0.57571	0.98;0.98	D;D	0.72338	0.977;0.972	D	0.97282	0.9918	10	0.87932	D	0	4.5569	16.1567	0.81673	0.0:0.0:0.0:1.0	.	255;522	B9ZVW9;Q15582	.;BGH3_HUMAN	T	522;255;522	ENSP00000416330:I522T;ENSP00000306306:I522T	ENSP00000306306:I522T	I	+	2	0	TGFBI	135420270	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.225000	0.72522	0.528000	0.53228	ATC		0.502	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			28	63	0	0	0	1	0	28	63				
AFP	174	broad.mit.edu	37	4	74315095	74315095	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:74315095T>C	ENST00000395792.2	+	9	1202	c.1102T>C	c.(1102-1104)Tca>Cca	p.S368P	AFP_ENST00000226359.2_Missense_Mutation_p.S368P	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	368	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTTGCTGTCTCAGTAATTCT	0.373									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1102-1104)Tca>Cca		alpha-fetoprotein							89.0	89.0	89.0					4																	74315095		2202	4300	6502	SO:0001583	missense	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74315095T>C	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1102T>C	4.37:g.74315095T>C	ENSP00000379138:p.Ser368Pro					AFP_ENST00000226359.2_Missense_Mutation_p.S368P	p.S368P	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		9	1202	+	Breast(15;0.00102)		368			Albumin 2.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.1102T>C	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	T	0.170	-1.072284	0.01918	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.72505	-0.66;-0.66	5.87	-1.64	0.08318	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.882827	0.09998	N	0.728788	T	0.38268	0.1034	N	0.02368	-0.58	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.003	T	0.16247	-1.0409	10	0.29301	T	0.29	.	3.9366	0.09309	0.2765:0.3256:0.0:0.3978	.	210;368	B4DMX4;P02771	.;FETA_HUMAN	P	368	ENSP00000379138:S368P;ENSP00000226359:S368P	ENSP00000226359:S368P	S	+	1	0	AFP	74533959	0.000000	0.05858	0.000000	0.03702	0.811000	0.45836	0.164000	0.16542	-0.619000	0.05648	-0.899000	0.02877	TCA		0.373	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			28	41	0	0	0	1	0	28	41				
SLC16A2	6567	broad.mit.edu	37	X	73740968	73740968	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:73740968A>G	ENST00000587091.1	+	2	751	c.574A>G	c.(574-576)Agc>Ggc	p.S192G	SLC16A2_ENST00000276033.5_Splice_Site_p.S266G	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	192					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CTCCTTCACCAGGTAAGGCTA	0.517																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.e2+1		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						87.0	79.0	81.0					X																	73740968		2203	4300	6503	SO:0001630	splice_region_variant	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73740968A>G		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.575+1A>G	X.37:g.73740968A>G						SLC16A2_ENST00000587091.1_Splice_Site_p.S192_splice	p.S266_splice			P36021	MOT8_HUMAN			2	962	+			192					Q7Z797	Splice_Site	SNP	ENST00000587091.1	37	c.797_splice	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	A	17.50	3.406213	0.62288	.	.	ENSG00000147100	ENST00000276033	T	0.37752	1.18	5.7	5.7	0.88788	Major facilitator superfamily domain, general substrate transporter (1);	0.133804	0.64402	D	0.000002	T	0.40040	0.1101	L	0.54323	1.7	0.32758	N	0.505526	B	0.24721	0.11	B	0.32393	0.145	T	0.54098	-0.8344	10	0.66056	D	0.02	.	14.6051	0.68472	1.0:0.0:0.0:0.0	.	192	P36021	MOT8_HUMAN	G	266	ENSP00000276033:S266G	ENSP00000276033:S266G	S	+	1	0	SLC16A2	73657693	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.161000	0.77505	1.909000	0.55274	0.483000	0.47432	AGC		0.517	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3		Missense_Mutation	50	56	0	0	0	1	0	50	56				
TMEM102	284114	broad.mit.edu	37	17	7339922	7339922	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:7339922A>C	ENST00000323206.1	+	3	897	c.624A>C	c.(622-624)aaA>aaC	p.K208N	FGF11_ENST00000293829.4_5'Flank|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.K208N|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	208					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CTTTGGAAAAATCGCCTAGTG	0.552																																						ENST00000323206.1																			0				kidney(1)|lung(3)|skin(1)	5						c.(622-624)aaA>aaC		transmembrane protein 102							96.0	95.0	95.0					17																	7339922		2203	4300	6503	SO:0001583	missense	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7339922A>C	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.624A>C	17.37:g.7339922A>C	ENSP00000315387:p.Lys208Asn					TMEM102_ENST00000396568.1_Missense_Mutation_p.K208N|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA	p.K208N	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN			3	897	+		Prostate(122;0.173)	208					D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	c.624A>C	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	A	7.898	0.733778	0.15574	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.47528	0.84;0.84	5.27	-3.01	0.05463	.	1.091740	0.06961	N	0.816438	T	0.27629	0.0679	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24225	-1.0166	10	0.44086	T	0.13	-7.9316	1.0765	0.01634	0.329:0.2832:0.2506:0.1373	.	208	Q8N9M5	TM102_HUMAN	N	208	ENSP00000315387:K208N;ENSP00000379815:K208N	ENSP00000315387:K208N	K	+	3	2	TMEM102	7280646	0.510000	0.26171	0.367000	0.25926	0.029000	0.11900	0.207000	0.17395	-0.196000	0.10366	-0.290000	0.09829	AAA		0.552	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		59	78	0	0	0	1	0	59	78				
HAUS3	79441	broad.mit.edu	37	4	2242253	2242253	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:2242253C>T	ENST00000243706.4	-	2	650	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	HAUS3_ENST00000506763.1_Missense_Mutation_p.E141K|HAUS3_ENST00000443786.2_Missense_Mutation_p.E141K|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	141					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTTCTTCTTCTTTAGCATTT	0.353																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(421-423)Gaa>Aaa		HAUS augmin-like complex, subunit 3							98.0	102.0	101.0					4																	2242253		2202	4299	6501	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2242253C>T	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.421G>A	4.37:g.2242253C>T	ENSP00000243706:p.Glu141Lys					HAUS3_ENST00000506763.1_Missense_Mutation_p.E141K|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.E141K|POLN_ENST00000515357.1_Intron	p.E141K	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			2	650	-			141					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.421G>A	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469079	0.26335	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.47177	0.85;0.85	5.29	2.57	0.30868	.	0.269718	0.31123	U	0.008213	T	0.46964	0.1420	M	0.73598	2.24	0.09310	N	1	P;P	0.47253	0.892;0.892	P;P	0.50490	0.642;0.642	T	0.45190	-0.9278	10	0.02654	T	1	-20.3387	5.8413	0.18635	0.1289:0.6322:0.1622:0.0767	.	141;141	B4DF64;Q68CZ6	.;HAUS3_HUMAN	K	141	ENSP00000243706:E141K;ENSP00000392903:E141K	ENSP00000243706:E141K	E	-	1	0	HAUS3	2212051	0.993000	0.37304	0.000000	0.03702	0.307000	0.27823	0.993000	0.29680	0.273000	0.22049	0.655000	0.94253	GAA		0.353	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		26	40	0	0	0	1	0	26	40				
RGS7	6000	broad.mit.edu	37	1	241033369	241033369	+	Missense_Mutation	SNP	C	C	T	rs149172715	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:241033369C>T	ENST00000407727.1	-	6	435	c.436G>A	c.(436-438)Gca>Aca	p.A146T	RGS7_ENST00000366565.1_Missense_Mutation_p.A146T|RGS7_ENST00000366563.1_Missense_Mutation_p.A146T|RGS7_ENST00000446183.2_Missense_Mutation_p.A62T|RGS7_ENST00000348120.2_Missense_Mutation_p.A93T|RGS7_ENST00000366562.4_Missense_Mutation_p.A146T|RGS7_ENST00000366564.1_Missense_Mutation_p.A146T|RGS7_ENST00000401882.1_Missense_Mutation_p.A93T|RGS7_ENST00000331110.7_Missense_Mutation_p.A120T			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	146					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCATAGTCTGCGAGCTCCAGT	0.458																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(436-438)Gca>Aca		regulator of G-protein signaling 7		C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	241.0	202.0	215.0		436	5.9	0.8	1	dbSNP_134	215	0,8600		0,0,4300	no	missense	RGS7	NM_002924.4	58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	146/488	241033369	3,13003	2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241033369C>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.436G>A	1.37:g.241033369C>T	ENSP00000384428:p.Ala146Thr					RGS7_ENST00000401882.1_Missense_Mutation_p.A93T|RGS7_ENST00000366563.1_Missense_Mutation_p.A146T|RGS7_ENST00000446183.2_Missense_Mutation_p.A62T|RGS7_ENST00000366562.4_Missense_Mutation_p.A146T|RGS7_ENST00000366564.1_Missense_Mutation_p.A146T|RGS7_ENST00000348120.2_Missense_Mutation_p.A93T|RGS7_ENST00000331110.7_Missense_Mutation_p.A120T|RGS7_ENST00000407727.1_Missense_Mutation_p.A146T	p.A146T	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		7	817	-		all_cancers(173;0.0131)	146					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.436G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.138481	0.94560	6.81E-4	0.0	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T	0.32272	1.47;1.47;1.47;1.47;1.48;1.47;1.47;1.46;1.48	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	L	0.52364	1.645	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.997	D;D;D;D;D;P	0.91635	0.973;0.999;0.999;0.988;0.995;0.886	T	0.33675	-0.9859	10	0.39692	T	0.17	-19.9496	19.1736	0.93590	0.0:1.0:0.0:0.0	.	62;120;93;146;146;146	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.;.;.	T	120;146;146;146;93;62;146;146;93	ENSP00000331485:A120T;ENSP00000355523:A146T;ENSP00000355522:A146T;ENSP00000355521:A146T;ENSP00000341242:A93T;ENSP00000390138:A62T;ENSP00000355520:A146T;ENSP00000384428:A146T;ENSP00000385508:A93T	ENSP00000331485:A120T	A	-	1	0	RGS7	239099992	1.000000	0.71417	0.797000	0.32132	0.932000	0.56968	7.706000	0.84615	2.766000	0.95052	0.591000	0.81541	GCA		0.458	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		30	44	0	0	0	1	0	30	44				
CNOT10	25904	broad.mit.edu	37	3	32778914	32778914	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:32778914T>C	ENST00000328834.5	+	13	1843	c.1527T>C	c.(1525-1527)caT>caC	p.H509H	CNOT10_ENST00000538368.1_Silent_p.H281H|CNOT10_ENST00000454516.2_Silent_p.H569H|CNOT10_ENST00000331889.6_Intron|CNOT10-AS1_ENST00000475395.2_RNA	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	509				H -> Y (in Ref. 1; BAB14108). {ECO:0000305}.	gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GTAAAAGCCATGATGGAGATA	0.323																																						ENST00000328834.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.(1525-1527)caT>caC		CCR4-NOT transcription complex, subunit 10							64.0	62.0	63.0					3																	32778914		2203	4300	6503	SO:0001819	synonymous_variant	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32778914T>C	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1527T>C	3.37:g.32778914T>C						CNOT10_ENST00000331889.6_Intron|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000538368.1_Silent_p.H281H|CNOT10_ENST00000454516.2_Silent_p.H569H	p.H509H	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN			13	1843	+			509	H -> Y (in Ref. 1; BAB14108).				B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Silent	SNP	ENST00000328834.5	37	c.1527T>C	CCDS2655.1																																																																																				0.323	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		10	25	0	0	0	1	0	10	25				
RIC8A	60626	broad.mit.edu	37	11	214328	214328	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:214328A>G	ENST00000526104.1	+	10	2918	c.1574A>G	c.(1573-1575)gAc>gGc	p.D525G	RIC8A_ENST00000531541.1_3'UTR|RIC8A_ENST00000325207.5_Missense_Mutation_p.D531G|RIC8A_ENST00000527696.1_Missense_Mutation_p.D519G			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	525					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCTCctcggaccctgactcg	0.597																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(1573-1575)gAc>gGc		RIC8 guanine nucleotide exchange factor A							80.0	63.0	69.0					11																	214328		2203	4300	6503	SO:0001583	missense	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:214328A>G	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1574A>G	11.37:g.214328A>G	ENSP00000432008:p.Asp525Gly					RIC8A_ENST00000531541.1_3'UTR|RIC8A_ENST00000527696.1_Missense_Mutation_p.D519G|RIC8A_ENST00000325207.5_Missense_Mutation_p.D531G	p.D525G			Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	10	2918	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	525					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.1574A>G		.	.	.	.	.	.	.	.	.	.	A	17.94	3.511009	0.64522	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696	.	.	.	4.83	4.83	0.62350	.	0.117788	0.56097	D	0.000038	T	0.44726	0.1307	L	0.27053	0.805	0.53688	D	0.999974	P;P;P	0.42692	0.787;0.457;0.592	B;B;B	0.42771	0.397;0.174;0.397	T	0.51849	-0.8653	9	0.87932	D	0	-27.4938	14.268	0.66133	1.0:0.0:0.0:0.0	.	519;525;531	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	G	525;531;519	.	ENSP00000325941:D531G	D	+	2	0	RIC8A	204328	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	4.360000	0.59455	2.112000	0.64535	0.533000	0.62120	GAC		0.597	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		4	10	0	0	0	1	0	4	10				
CANX	821	broad.mit.edu	37	5	179146716	179146716	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:179146716C>A	ENST00000247461.4	+	9	1159	c.959C>A	c.(958-960)cCc>cAc	p.P320H	CANX_ENST00000452673.2_Missense_Mutation_p.P320H|CANX_ENST00000512607.2_Missense_Mutation_p.P212H|CANX_ENST00000504734.1_Missense_Mutation_p.P320H|CANX_ENST00000415618.2_Missense_Mutation_p.P355H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	320	4 X approximate repeats.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	GCCACAAAACCCGAAGGCTGG	0.423																																						ENST00000247461.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(958-960)cCc>cAc		calnexin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						79.0	79.0	79.0					5																	179146716		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179146716C>A	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.959C>A	5.37:g.179146716C>A	ENSP00000247461:p.Pro320His					CANX_ENST00000504734.1_Missense_Mutation_p.P320H|CANX_ENST00000452673.2_Missense_Mutation_p.P320H|CANX_ENST00000415618.2_Missense_Mutation_p.P355H|CANX_ENST00000512607.2_Missense_Mutation_p.P212H	p.P320H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1159	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	320			4 X approximate repeats.|P domain (Extended arm) (By similarity).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.959C>A	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289516	0.95517	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502673;ENST00000512607;ENST00000376953	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Calreticulin/calnexin, P (2);	0.000000	0.85682	D	0.000000	D	0.91233	0.7237	H	0.98407	4.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.991;1.0	D	0.94009	0.7282	10	0.87932	D	0	-13.602	20.0884	0.97806	0.0:1.0:0.0:0.0	.	355;256;320	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	H	320;355;320;320;256;212;256	ENSP00000424063:P320H;ENSP00000394817:P355H;ENSP00000391646:P320H;ENSP00000247461:P320H;ENSP00000421107:P256H;ENSP00000423588:P212H	ENSP00000247461:P320H	P	+	2	0	CANX	179079322	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.755000	0.94549	0.561000	0.74099	CCC		0.423	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		18	17	1	0	1.00905e-13	1	1.08051e-13	18	17				
L3MBTL2	83746	broad.mit.edu	37	22	41612173	41612173	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:41612173C>A	ENST00000216237.5	+	4	585	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	143					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCCAAAGTCCTGCACAAGGC	0.557																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(427-429)Ctg>Atg		l(3)mbt-like 2 (Drosophila)							65.0	54.0	58.0					22																	41612173		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41612173C>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.427C>A	22.37:g.41612173C>A	ENSP00000216237:p.Leu143Met					RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000441316.1_RNA	p.L143M	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			4	585	+			143					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.427C>A	CCDS14011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.680411|3.680411	0.68042|0.68042	.|.	.|.	ENSG00000100395|ENSG00000100395	ENST00000216237|ENST00000449635	T|.	0.22336|.	1.96|.	5.67|5.67	3.58|3.58	0.41010|0.41010	.|.	0.267324|.	0.32987|.	N|.	0.005410|.	T|T	0.63450|0.63450	0.2512|0.2512	M|M	0.65975|0.65975	2.015|2.015	0.35220|0.35220	D|D	0.775925|0.775925	D;D|.	0.76494|.	0.999;0.997|.	D;D|.	0.87578|.	0.998;0.96|.	T|T	0.70769|0.70769	-0.4782|-0.4782	10|5	0.48119|.	T|.	0.1|.	.|.	10.001|10.001	0.41929|0.41929	0.0:0.7863:0.0:0.2137|0.0:0.7863:0.0:0.2137	.|.	143;143|.	Q969R5-3;Q969R5|.	.;LMBL2_HUMAN|.	M|H	143|90	ENSP00000216237:L143M|.	ENSP00000216237:L143M|.	L|P	+|+	1|2	2|0	L3MBTL2|L3MBTL2	39942119|39942119	0.917000|0.917000	0.31117|0.31117	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	1.497000|1.497000	0.35649|0.35649	1.376000|1.376000	0.46267|0.46267	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.557	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		13	25	1	0	5.50884e-06	1	5.67048e-06	13	25				
BEGAIN	57596	broad.mit.edu	37	14	101004877	101004877	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:101004877G>A	ENST00000355173.2	-	7	1282	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L	BEGAIN_ENST00000556751.1_Missense_Mutation_p.P340L|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.P404L	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	404						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGCGGTCCCCGGCTTGGCCCG	0.726																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(1018-1020)cCg>cTg		brain-enriched guanylate kinase-associated							5.0	7.0	6.0					14																	101004877		2065	4088	6153	SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101004877G>A	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1211C>T	14.37:g.101004877G>A	ENSP00000347301:p.Pro404Leu					BEGAIN_ENST00000443071.2_Missense_Mutation_p.P404L|BEGAIN_ENST00000355173.2_Missense_Mutation_p.P404L	p.P340L			Q9BUH8	BEGIN_HUMAN			5	4423	-		Melanoma(154;0.212)	404					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.1019C>T	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	G	8.239	0.806353	0.16467	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.5	3.53	0.40419	.	0.325165	0.32372	N	0.006186	T	0.30510	0.0767	L	0.36672	1.1	0.40463	D	0.980262	P	0.47106	0.89	B	0.31337	0.128	T	0.31081	-0.9956	9	0.45353	T	0.12	.	11.7486	0.51835	0.0:0.4214:0.5786:0.0	.	404	Q9BUH8	BEGIN_HUMAN	L	404;340;404	.	ENSP00000347301:P404L	P	-	2	0	BEGAIN	100074630	0.925000	0.31364	0.893000	0.35052	0.045000	0.14185	1.981000	0.40628	2.053000	0.61076	0.455000	0.32223	CCG		0.726	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		9	8	0	0	0	1	0	9	8				
ROR2	4920	broad.mit.edu	37	9	94486999	94486999	+	Missense_Mutation	SNP	C	C	T	rs146067291	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:94486999C>T	ENST00000375708.3	-	9	1975	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.V453M	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	593	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACAAGGTGCACGAAGTCGGGG	0.632																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1777-1779)Gtg>Atg		receptor tyrosine kinase-like orphan receptor 2		C	MET/VAL	0,4406		0,0,2203	64.0	58.0	60.0		1777	3.9	0.6	9	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	missense	ROR2	NM_004560.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	593/944	94486999	1,13005	2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486999C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1777G>A	9.37:g.94486999C>T	ENSP00000364860:p.Val593Met					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.V453M	p.V593M	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	1975	-			593			Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1777G>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	9.570	1.120721	0.20877	0.0	1.16E-4	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.83914	-1.78;-1.78	4.86	3.89	0.44902	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.259259	0.19537	N	0.111891	T	0.74816	0.3766	N	0.26092	0.79	0.48087	D	0.999586	D;P	0.60575	0.988;0.832	P;B	0.47573	0.55;0.199	T	0.75340	-0.3352	10	0.59425	D	0.04	.	7.3481	0.26674	0.2775:0.5915:0.131:0.0	.	593;453	Q01974;B1APY4	ROR2_HUMAN;.	M	453;593	ENSP00000364867:V453M;ENSP00000364860:V593M	ENSP00000364860:V593M	V	-	1	0	ROR2	93526820	1.000000	0.71417	0.579000	0.28588	0.024000	0.10985	2.025000	0.41059	2.526000	0.85167	0.561000	0.74099	GTG		0.632	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			20	29	0	0	0	1	0	20	29				
TMEM177	80775	broad.mit.edu	37	2	120438732	120438732	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:120438732G>T	ENST00000424086.1	+	2	776	c.303G>T	c.(301-303)ggG>ggT	p.G101G	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Silent_p.G101G|TMEM177_ENST00000272521.6_Silent_p.G101G|TMEM177_ENST00000496203.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	101						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TCCCTGCTGGGGCTGTGGTGG	0.562																																						ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(301-303)ggG>ggT		transmembrane protein 177							168.0	179.0	176.0					2																	120438732		2203	4300	6503	SO:0001819	synonymous_variant	80775					integral to membrane		g.chr2:120438732G>T	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.303G>T	2.37:g.120438732G>T						TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Silent_p.G101G|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Silent_p.G101G	p.G101G	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN			2	776	+	Colorectal(110;0.196)		101					Q9BT20	Silent	SNP	ENST00000424086.1	37	c.303G>T	CCDS2128.1																																																																																				0.562	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		145	225	1	0	6.07058e-49	1	6.87843e-49	145	225				
TSPAN31	6302	broad.mit.edu	37	12	58139606	58139606	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:58139606G>A	ENST00000257910.3	+	2	416	c.142G>A	c.(142-144)Gga>Aga	p.G48R	TSPAN31_ENST00000547992.1_Missense_Mutation_p.G48R|TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000553221.1_3'UTR	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	48					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CATCATCGGCGGAGTCATTGC	0.552																																						ENST00000547992.1																			0				endometrium(1)|kidney(1)|lung(5)	7						c.(142-144)Gga>Aga		tetraspanin 31							150.0	131.0	137.0					12																	58139606		2203	4300	6503	SO:0001583	missense	0				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction		g.chr12:58139606G>A		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.142G>A	12.37:g.58139606G>A	ENSP00000257910:p.Gly48Arg					TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000257910.3_Missense_Mutation_p.G48R|TSPAN31_ENST00000547472.1_Intron	p.G48R			Q12999	TSN31_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		2	274	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		48					O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	c.142G>A	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145059	0.94603	.	.	ENSG00000135452	ENST00000257910;ENST00000547992	T	0.79247	-1.25	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.87696	0.6242	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.73380	0.881;0.98	D	0.85899	0.1433	10	0.25106	T	0.35	-7.1142	16.6554	0.85227	0.0:0.0:1.0:0.0	.	48;48	F8VS78;Q12999	.;TSN31_HUMAN	R	48	ENSP00000257910:G48R	ENSP00000257910:G48R	G	+	1	0	TSPAN31	56425873	1.000000	0.71417	0.990000	0.47175	0.896000	0.52359	9.192000	0.94947	2.539000	0.85634	0.460000	0.39030	GGA		0.552	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			33	95	0	0	0	1	0	33	95				
TG	7038	broad.mit.edu	37	8	133910007	133910007	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:133910007C>T	ENST00000220616.4	+	12	3155	c.3115C>T	c.(3115-3117)Cct>Tct	p.P1039S	TG_ENST00000377869.1_Missense_Mutation_p.P1039S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1039	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGTTGGGAGCCTGTGCAGTG	0.597																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3115-3117)Cct>Tct		thyroglobulin							59.0	58.0	58.0					8																	133910007		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133910007C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3115C>T	8.37:g.133910007C>T	ENSP00000220616:p.Pro1039Ser					TG_ENST00000377869.1_Missense_Mutation_p.P1039S	p.P1039S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	12	3155	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1039			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3115C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764825	0.69878	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.67171	-0.25;-0.25	5.59	5.59	0.84812	Thyroglobulin type-1 (6);	0.956231	0.08701	N	0.906361	D	0.82651	0.5083	M	0.64404	1.975	0.49130	D	0.999756	D	0.89917	1.0	D	0.97110	1.0	T	0.78079	-0.2344	10	0.87932	D	0	.	18.5726	0.91142	0.0:1.0:0.0:0.0	.	1039	P01266	THYG_HUMAN	S	1039	ENSP00000367100:P1039S;ENSP00000220616:P1039S	ENSP00000220616:P1039S	P	+	1	0	TG	133979189	1.000000	0.71417	0.995000	0.50966	0.241000	0.25554	5.960000	0.70348	2.619000	0.88677	0.655000	0.94253	CCT		0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		36	111	0	0	0	1	0	36	111				
SCYL2	55681	broad.mit.edu	37	12	100709497	100709497	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:100709497G>A	ENST00000360820.2	+	9	1694	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	419					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TGTTTAAGCAGCAGGAGCCAA	0.338																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1255-1257)caG>caA		SCY1-like 2 (S. cerevisiae)							67.0	62.0	63.0					12																	100709497		2203	4300	6503	SO:0001819	synonymous_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100709497G>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1257G>A	12.37:g.100709497G>A							p.Q419Q	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			9	1694	+			419					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	c.1257G>A	CCDS9076.1																																																																																				0.338	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		17	20	0	0	0	1	0	17	20				
DOPEY1	23033	broad.mit.edu	37	6	83806836	83806836	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:83806836T>C	ENST00000349129.2	+	3	398		c.e3+2		DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site|DOPEY1_ENST00000536812.1_Splice_Site	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTTAATAAGGTATGTCTGTAT	0.308																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.e3+2		dopey family member 1							118.0	132.0	127.0					6																	83806836		2203	4300	6503	SO:0001630	splice_region_variant	23033				protein transport			g.chr6:83806836T>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.138+2T>C	6.37:g.83806836T>C						DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000536812.1_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site		NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	3	398	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)						Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Splice_Site	SNP	ENST00000349129.2	37		CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982128	0.74474	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4931	0.75629	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOPEY1	83863555	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.634000	0.83273	2.062000	0.61559	0.383000	0.25322	.		0.308	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	Intron	117	81	0	0	0	1	0	117	81				
RB1CC1	9821	broad.mit.edu	37	8	53586500	53586500	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:53586500A>G	ENST00000025008.5	-	7	1430	c.907T>C	c.(907-909)Ttt>Ctt	p.F303L	RB1CC1_ENST00000435644.2_Missense_Mutation_p.F303L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.F303L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	303					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACATTAAAAAAGGGCAGATCA	0.388																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(907-909)Ttt>Ctt		RB1-inducible coiled-coil 1							129.0	118.0	122.0					8																	53586500		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53586500A>G	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.907T>C	8.37:g.53586500A>G	ENSP00000025008:p.Phe303Leu					RB1CC1_ENST00000435644.2_Missense_Mutation_p.F303L|RB1CC1_ENST00000539297.1_Missense_Mutation_p.F303L|RB1CC1_ENST00000521611.1_Intron	p.F303L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			7	1430	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	303					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.907T>C	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.125187	0.56721	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.12984	2.63;2.63;2.63	5.49	4.33	0.51752	.	0.464330	0.23552	N	0.046955	T	0.06462	0.0166	N	0.08118	0	0.33849	D	0.632362	B;B	0.19706	0.038;0.022	B;B	0.18561	0.022;0.01	T	0.22138	-1.0225	10	0.08599	T	0.76	-11.4877	11.2999	0.49300	0.9284:0.0:0.0716:0.0	.	303;303	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	L	303	ENSP00000025008:F303L;ENSP00000396067:F303L;ENSP00000445960:F303L	ENSP00000025008:F303L	F	-	1	0	RB1CC1	53749053	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	3.963000	0.56773	1.020000	0.39573	0.460000	0.39030	TTT		0.388	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		121	49	0	0	0	1	0	121	49				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			10	48	0	0	0	1	0	10	48				
ZNF329	79673	broad.mit.edu	37	19	58640477	58640477	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58640477A>G	ENST00000598312.1	-	4	627	c.394T>C	c.(394-396)Tcc>Ccc	p.S132P	ZNF329_ENST00000358067.4_Missense_Mutation_p.S132P	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ACTTCCATGGAATGGTTGAAG	0.423																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(394-396)Tcc>Ccc		zinc finger protein 329							110.0	107.0	108.0					19																	58640477		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58640477A>G	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.394T>C	19.37:g.58640477A>G	ENSP00000470008:p.Ser132Pro					ZNF329_ENST00000358067.4_Missense_Mutation_p.S132P	p.S132P	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	627	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	132					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.394T>C	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	A	7.210	0.595203	0.13875	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.08720	3.06;3.06	4.58	3.57	0.40892	.	0.000000	0.45867	D	0.000326	T	0.12603	0.0306	M	0.78285	2.405	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.13495	-1.0507	10	0.62326	D	0.03	-9.33	9.9367	0.41556	0.9169:0.0:0.0831:0.0	.	132	Q86UD4	ZN329_HUMAN	P	132	ENSP00000350773:S132P;ENSP00000439527:S132P	ENSP00000350773:S132P	S	-	1	0	ZNF329	63332289	0.046000	0.20272	0.086000	0.20670	0.206000	0.24218	0.748000	0.26305	1.088000	0.41272	0.533000	0.62120	TCC		0.423	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		62	55	0	0	0	1	0	62	55				
PQLC1	80148	broad.mit.edu	37	18	77703350	77703350	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:77703350C>T	ENST00000397778.2	-	3	498	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	PQLC1_ENST00000409073.1_Missense_Mutation_p.A23T|PQLC1_ENST00000357575.4_Missense_Mutation_p.A106T|PQLC1_ENST00000590381.1_Missense_Mutation_p.A106T	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	106						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CGGCGCCTGGCGTTGAGCTCG	0.582																																						ENST00000397778.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(316-318)Gcc>Acc		PQ loop repeat containing 1							121.0	120.0	120.0					18																	77703350		2203	4300	6503	SO:0001583	missense	80148					integral to membrane		g.chr18:77703350C>T	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.316G>A	18.37:g.77703350C>T	ENSP00000380880:p.Ala106Thr					PQLC1_ENST00000590381.1_Missense_Mutation_p.A106T|PQLC1_ENST00000409073.1_Missense_Mutation_p.A23T|PQLC1_ENST00000357575.4_Missense_Mutation_p.A106T	p.A106T	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	3	498	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	106					B7Z7D9|G5E989|Q9H6D0	Missense_Mutation	SNP	ENST00000397778.2	37	c.316G>A	CCDS12020.1	.	.	.	.	.	.	.	.	.	.	C	0.411	-0.913218	0.02415	.	.	ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575;ENST00000351365	.	.	.	5.47	-10.1	0.00402	.	0.927161	0.09219	N	0.832209	T	0.08358	0.0208	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.16802	0.019;0.018;0.002	B;B;B	0.10450	0.002;0.005;0.002	T	0.19844	-1.0293	9	0.08179	T	0.78	-6.2462	5.3543	0.16053	0.0716:0.2406:0.4052:0.2826	.	106;106;106	B7Z7D9;Q8N2U9;G5E989	.;PQLC1_HUMAN;.	T	106;23;106;106	.	ENSP00000315627:A106T	A	-	1	0	PQLC1	75804338	0.852000	0.29690	0.000000	0.03702	0.010000	0.07245	-0.113000	0.10774	-1.819000	0.01216	-0.768000	0.03414	GCC		0.582	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		116	142	0	0	0	1	0	116	142				
ATG13	9776	broad.mit.edu	37	11	46667538	46667538	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:46667538A>G	ENST00000434074.1	+	4	958	c.269A>G	c.(268-270)gAg>gGg	p.E90G	ATG13_ENST00000312040.4_Splice_Site_p.E90G|ATG13_ENST00000529655.1_Splice_Site_p.E90G|ATG13_ENST00000530500.1_Splice_Site_p.E11G|ATG13_ENST00000526508.1_Splice_Site_p.E90G|ATG13_ENST00000524625.1_Splice_Site_p.E90G|ATG13_ENST00000528494.1_Splice_Site_p.E90G|ATG13_ENST00000359513.4_Splice_Site_p.E90G|ATG13_ENST00000451945.1_Splice_Site_p.E90G	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	90					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AAGACTTCTGAGGTAAGGCTA	0.502																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.e4+1		autophagy related 13							122.0	113.0	116.0					11																	46667538		2201	4299	6500	SO:0001630	splice_region_variant	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46667538A>G	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.270+1A>G	11.37:g.46667538A>G						ATG13_ENST00000526508.1_Splice_Site_p.E90_splice|ATG13_ENST00000530500.1_Splice_Site_p.E11_splice|ATG13_ENST00000528494.1_Splice_Site_p.E90_splice|ATG13_ENST00000451945.1_Splice_Site_p.E90_splice|ATG13_ENST00000529655.1_Splice_Site_p.E90_splice|ATG13_ENST00000524625.1_Splice_Site_p.E90_splice|ATG13_ENST00000312040.4_Splice_Site_p.E90_splice|ATG13_ENST00000359513.4_Splice_Site_p.E90_splice	p.E90_splice	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN			4	958	+			90					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Splice_Site	SNP	ENST00000434074.1	37	c.270_splice	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843312	0.91197	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000533325;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.77226	0.4099	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.81914	0.99;0.988;0.995;0.983	T	0.78383	-0.2225	9	0.51188	T	0.08	-18.5147	15.6207	0.76805	1.0:0.0:0.0:0.0	.	11;90;90;90	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	G	90;90;90;90;90;90;11;90;90;90;90;90	.	ENSP00000310321:E90G	E	+	2	0	ATG13	46624114	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	9.249000	0.95470	2.086000	0.62901	0.460000	0.39030	GAG		0.502	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741	Missense_Mutation	25	31	0	0	0	1	0	25	31				
EHBP1L1	254102	broad.mit.edu	37	11	65351790	65351790	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:65351790C>T	ENST00000309295.4	+	10	3437	c.3172C>T	c.(3172-3174)Cgc>Tgc	p.R1058C		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1058	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCGTGGCGTCCGCATCACCAA	0.627																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(3172-3174)Cgc>Tgc		EH domain binding protein 1-like 1							75.0	86.0	82.0					11																	65351790		2168	4264	6432	SO:0001583	missense	254102							g.chr11:65351790C>T	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.3172C>T	11.37:g.65351790C>T	ENSP00000312671:p.Arg1058Cys						p.R1058C	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			10	3437	+			1058			CH.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.3172C>T	CCDS44649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.04|14.04	2.418131|2.418131	0.42918|0.42918	.|.	.|.	ENSG00000173442|ENSG00000173442	ENST00000533465|ENST00000309295;ENST00000533237	.|D;D	.|0.95342	.|-3.68;-3.68	5.41|5.41	4.26|4.26	0.50523|0.50523	.|Calponin homology domain (5);	.|0.169844	.|0.38272	.|N	.|0.001754	D|D	0.90755|0.90755	0.7098|0.7098	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|P;B	.|0.35050	.|0.482;0.26	.|B;B	.|0.29267	.|0.1;0.057	D|D	0.86445|0.86445	0.1769|0.1769	5|10	.|0.22706	.|T	.|0.39	.|.	9.5246|9.5246	0.39156|0.39156	0.0:0.8634:0.0:0.1366|0.0:0.8634:0.0:0.1366	.|.	.|475;1058	.|E9PIH6;Q8N3D4	.|.;EH1L1_HUMAN	L|C	107|1058;475	.|ENSP00000312671:R1058C;ENSP00000431996:R475C	.|ENSP00000312671:R1058C	P|R	+|+	2|1	0|0	EHBP1L1|EHBP1L1	65108366|65108366	0.697000|0.697000	0.27767|0.27767	0.559000|0.559000	0.28332|0.28332	0.943000|0.943000	0.58893|0.58893	1.622000|1.622000	0.36997|0.36997	0.955000|0.955000	0.37878|0.37878	0.511000|0.511000	0.50034|0.50034	CCG|CGC		0.627	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		70	95	0	0	0	1	0	70	95				
ASPHD1	253982	broad.mit.edu	37	16	29912571	29912571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:29912571G>A	ENST00000308748.5	+	1	531	c.279G>A	c.(277-279)tgG>tgA	p.W93*	SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank|ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	93					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGTTCCTCTGGTACTGCTACC	0.682																																						ENST00000308748.5																			0				endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						c.(277-279)tgG>tgA		aspartate beta-hydroxylase domain containing 1							53.0	58.0	57.0					16																	29912571		2195	4299	6494	SO:0001587	stop_gained	253982				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr16:29912571G>A	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.279G>A	16.37:g.29912571G>A	ENSP00000311447:p.Trp93*					ASPHD1_ENST00000483405.1_Intron	p.W93*	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN			1	531	+			93					A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Nonsense_Mutation	SNP	ENST00000308748.5	37	c.279G>A	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	G	37	6.147614	0.97324	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	.	.	.	4.81	3.83	0.44106	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.349	6.7722	0.23601	0.1873:0.0:0.8127:0.0	.	.	.	.	X	93	.	ENSP00000311447:W93X	W	+	3	0	ASPHD1	29820072	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.188000	0.72045	2.374000	0.81015	0.462000	0.41574	TGG		0.682	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		55	83	0	0	0	1	0	55	83				
ARHGAP4	393	broad.mit.edu	37	X	153179298	153179298	+	Silent	SNP	G	G	A	rs368446618		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153179298G>A	ENST00000350060.5	-	8	1109	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	ARHGAP4_ENST00000370028.3_Silent_p.D396D|ARHGAP4_ENST00000393721.1_Silent_p.D178D|ARHGAP4_ENST00000537206.1_Silent_p.D333D|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370016.1_Silent_p.D335D	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	356					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAATCTCGTCCCGCAGCT	0.652																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1186-1188)gaC>gaT		Rho GTPase activating protein 4							51.0	43.0	46.0					X																	153179298		2203	4300	6503	SO:0001819	synonymous_variant	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153179298G>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1068C>T	X.37:g.153179298G>A						ARHGAP4_ENST00000537206.1_Silent_p.D333D|ARHGAP4_ENST00000350060.5_Silent_p.D356D|ARHGAP4_ENST00000370016.1_Silent_p.D335D|ARHGAP4_ENST00000393721.1_Silent_p.D178D	p.D396D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			9	1245	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		356					Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	c.1188C>T	CCDS14736.1																																																																																				0.652	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		23	37	0	0	0	1	0	23	37				
CYP1A2	1544	broad.mit.edu	37	15	75042527	75042527	+	Missense_Mutation	SNP	G	G	A	rs192799115	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:75042527G>A	ENST00000343932.4	+	2	511	c.448G>A	c.(448-450)Gcc>Acc	p.A150T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	150					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.A150T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CTTCTCCATCGCCTCTGACCC	0.622													G|||	3	0.000599042	0.0008	0.0029	5008	,	,		19599	0.0		0.0	False		,,,				2504	0.0					ENST00000343932.4																			1	Substitution - Missense(1)	p.A150T(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(448-450)Gcc>Acc		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						118.0	116.0	117.0					15																	75042527		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042527G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.448G>A	15.37:g.75042527G>A	ENSP00000342007:p.Ala150Thr						p.A150T	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			2	511	+			150					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.448G>A	CCDS32293.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	15.69	2.906765	0.52333	.	.	ENSG00000140505	ENST00000343932	T	0.79554	-1.28	4.53	3.54	0.40534	.	0.248699	0.41001	D	0.000978	D	0.83815	0.5336	M	0.82132	2.575	0.29040	N	0.88516	D	0.61080	0.989	P	0.61874	0.895	T	0.79761	-0.1667	10	0.49607	T	0.09	.	12.5553	0.56250	0.0:0.0:0.7114:0.2886	.	150	P05177-2	.	T	150	ENSP00000342007:A150T	ENSP00000342007:A150T	A	+	1	0	CYP1A2	72829580	0.754000	0.28360	0.898000	0.35279	0.387000	0.30353	1.674000	0.37544	2.499000	0.84300	0.561000	0.74099	GCC		0.622	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		108	167	0	0	0	1	0	108	167				
COX6A1	1337	broad.mit.edu	37	12	120878307	120878307	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:120878307G>A	ENST00000229379.2	+	3	334	c.297G>A	c.(295-297)gtG>gtA	p.V99V	AL021546.6_ENST00000551806.1_Intron	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	99					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCTCATGTGAATCCACTTC	0.458																																						ENST00000229379.2																			0											c.(295-297)gtG>gtA		cytochrome c oxidase subunit VIa polypeptide 1							59.0	51.0	54.0					12																	120878307		2203	4297	6500	SO:0001819	synonymous_variant	1337				respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity	g.chr12:120878307G>A	X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.297G>A	12.37:g.120878307G>A						AL021546.6_ENST00000551806.1_Intron	p.V99V	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN			3	334	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		99					B2R500|O43714|Q32Q37	Silent	SNP	ENST00000229379.2	37	c.297G>A	CCDS9197.1																																																																																				0.458	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108984.3	NM_004373		19	23	0	0	0	1	0	19	23				
FASN	2194	broad.mit.edu	37	17	80049428	80049428	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:80049428C>T	ENST00000306749.2	-	9	1380	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	388	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TTGATGCCCACGTTGCCGCCA	0.682																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(1162-1164)Gtg>Atg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						24.0	23.0	24.0					17																	80049428		2176	4279	6455	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80049428C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1162G>A	17.37:g.80049428C>T	ENSP00000304592:p.Val388Met						p.V388M	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		9	1380	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		388			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.1162G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367791	0.82463	.	.	ENSG00000169710	ENST00000306749	T	0.29917	1.55	5.1	4.13	0.48395	Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.88640	2.97	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.66093	-0.6009	10	0.87932	D	0	-34.6406	11.3763	0.49730	0.0:0.8534:0.0:0.1466	.	388	P49327	FAS_HUMAN	M	388	ENSP00000304592:V388M	ENSP00000304592:V388M	V	-	1	0	FASN	77642717	0.981000	0.34729	0.980000	0.43619	0.928000	0.56348	2.585000	0.46111	2.381000	0.81170	0.484000	0.47621	GTG		0.682	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		10	9	0	0	0	1	0	10	9				
ZHX1	11244	broad.mit.edu	37	8	124266662	124266662	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:124266662T>A	ENST00000522655.1	-	3	2065	c.1525A>T	c.(1525-1527)Aaa>Taa	p.K509*	ZHX1_ENST00000297857.2_Nonsense_Mutation_p.K509*|ZHX1_ENST00000395571.3_Nonsense_Mutation_p.K509*|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	509	Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AACCATTTTTTAATCTCTCCT	0.348																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1525-1527)Aaa>Taa		zinc fingers and homeoboxes 1							119.0	122.0	121.0					8																	124266662		2203	4300	6503	SO:0001587	stop_gained	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124266662T>A	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1525A>T	8.37:g.124266662T>A	ENSP00000428821:p.Lys509*					ZHX1_ENST00000297857.2_Nonsense_Mutation_p.K509*|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Nonsense_Mutation_p.K509*	p.K509*	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2142	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		509			Required for interaction with NFYA.		Q8IWD8	Nonsense_Mutation	SNP	ENST00000522655.1	37	c.1525A>T	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	43|43	10.105237|10.105237	0.99337|0.99337	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.103535|.	0.64402|.	D|.	0.000004|.	.|T	.|0.67192	.|0.2867	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71513	.|-0.4570	.|3	0.02654|.	T|.	1|.	-23.6888|-23.6888	15.2096|15.2096	0.73209|0.73209	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|F	509|193	.|.	ENSP00000297857:K509X|.	K|L	-|-	1|3	0|2	ZHX1|ZHX1	124335843|124335843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.124000|6.124000	0.71620|0.71620	2.174000|2.174000	0.68829|0.68829	0.454000|0.454000	0.30748|0.30748	AAA|TTA		0.348	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			80	215	0	0	0	1	0	80	215				
PCDHB6	56130	broad.mit.edu	37	5	140531421	140531421	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140531421G>A	ENST00000231136.1	+	1	1583	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R392H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGCGTGGGCGCC	0.657																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1582-1584)cGc>cAc									68.0	74.0	72.0					5																	140531421		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531421G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1583G>A	5.37:g.140531421G>A	ENSP00000231136:p.Arg528His					PCDHB6_ENST00000543635.1_Missense_Mutation_p.R392H	p.R528H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1583	+			528			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1583G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	5.817	0.334972	0.11013	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01767	4.65;4.65	4.19	0.816	0.18768	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01421	0.0046	N	0.17800	0.525	0.09310	N	1	B	0.15473	0.013	B	0.18561	0.022	T	0.46911	-0.9157	9	0.42905	T	0.14	.	5.194	0.15225	0.3238:0.2745:0.4017:0.0	.	528	Q9Y5E3	PCDB6_HUMAN	H	392;528;313	ENSP00000438466:R392H;ENSP00000231136:R528H	ENSP00000231136:R528H	R	+	2	0	PCDHB6	140511605	0.000000	0.05858	0.996000	0.52242	0.988000	0.76386	-1.436000	0.02421	0.328000	0.23435	0.556000	0.70494	CGC		0.657	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		113	116	0	0	0	1	0	113	116				
EBF2	64641	broad.mit.edu	37	8	25715915	25715915	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:25715915C>T	ENST00000520164.1	-	14	1985	c.1448G>A	c.(1447-1449)aGc>aAc	p.S483N	EBF2_ENST00000408929.3_Missense_Mutation_p.S335N|EBF2_ENST00000535548.1_Missense_Mutation_p.S214N	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	483	Pro/Ser/Thr-rich.			S -> G (in Ref. 1; AAU10086). {ECO:0000305}.	adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGGGACATTGCTGTAGCCATT	0.517																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1447-1449)aGc>aAc		early B-cell factor 2							147.0	152.0	150.0					8																	25715915		2028	4187	6215	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25715915C>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1448G>A	8.37:g.25715915C>T	ENSP00000430241:p.Ser483Asn					EBF2_ENST00000408929.3_Missense_Mutation_p.S335N|EBF2_ENST00000535548.1_Missense_Mutation_p.S214N	p.S483N	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	14	1985	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	483			Pro/Ser/Thr-rich.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.1448G>A	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364447	0.41902	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.47528	0.84;0.84;0.84	5.43	5.43	0.79202	.	0.080897	0.85682	D	0.000000	T	0.39332	0.1074	N	0.22421	0.69	0.49915	D	0.999839	B	0.26120	0.142	B	0.29077	0.098	T	0.18493	-1.0335	10	0.40728	T	0.16	-24.4496	18.2104	0.89868	0.0:1.0:0.0:0.0	.	483	Q9HAK2	COE2_HUMAN	N	483;335;214	ENSP00000430241:S483N;ENSP00000386178:S335N;ENSP00000437909:S214N	ENSP00000386178:S335N	S	-	2	0	EBF2	25771832	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.814000	0.86154	2.537000	0.85549	0.655000	0.94253	AGC		0.517	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		38	120	0	0	0	1	0	38	120				
CDK16	5127	broad.mit.edu	37	X	47085770	47085770	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:47085770C>T	ENST00000357227.4	+	9	1309	c.885C>T	c.(883-885)aaC>aaT	p.N295N	CDK16_ENST00000276052.6_Silent_p.N369N|CDK16_ENST00000518022.1_Silent_p.N295N|CDK16_ENST00000457458.2_Silent_p.N301N	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TGCTCATCAACGAGAGGGGAG	0.587																																						ENST00000457458.2																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						c.(901-903)aaC>aaT		cyclin-dependent kinase 16							97.0	78.0	84.0					X																	47085770		2203	4300	6503	SO:0001819	synonymous_variant	5127						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chrX:47085770C>T		CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"""Cyclin-dependent kinases"""	8749	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase"""	311550	"""PCTAIRE protein kinase 1"""	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.885C>T	X.37:g.47085770C>T						CDK16_ENST00000357227.4_Silent_p.N295N|CDK16_ENST00000518022.1_Silent_p.N295N|CDK16_ENST00000276052.6_Silent_p.N369N	p.N301N	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN			9	1323	+			295			Protein kinase.		A8K280|B7Z7C8|J3KN74|J3KQP7	Silent	SNP	ENST00000357227.4	37	c.903C>T	CCDS14276.1																																																																																				0.587	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2	NM_006201		17	20	0	0	0	1	0	17	20				
HLA-DPA1	3113	broad.mit.edu	37	6	33037547	33037547	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:33037547C>T	ENST00000419277.1	-	3	346	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.V73I|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	73	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						AGATGCCAGACGGTCTCCTTC	0.458																																						ENST00000419277.1																			0				kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						c.(217-219)Gtc>Atc		major histocompatibility complex, class II, DP alpha 1							74.0	93.0	86.0					6																	33037547		1511	2709	4220	SO:0001583	missense	3113				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:33037547C>T	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.217G>A	6.37:g.33037547C>T	ENSP00000393566:p.Val73Ile					HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.V73I|HLA-DPA1_ENST00000463066.1_5'UTR	p.V73I	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN			3	346	-			73			Alpha-1.		A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	c.217G>A	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	C	9.753	1.168112	0.21621	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.01613	4.73;4.73;4.73	3.0	0.00536	0.14062	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.196310	0.33553	N	0.004799	T	0.00552	0.0018	L	0.39245	1.2	0.24255	N	0.995307	B	0.13594	0.008	B	0.13407	0.009	T	0.46498	-0.9187	10	0.34782	T	0.22	.	7.0702	0.25173	0.0:0.6561:0.0:0.3439	.	73	P20036	DPA1_HUMAN	I	73	ENSP00000393566:V73I;ENSP00000402872:V73I;ENSP00000390929:V73I	ENSP00000393566:V73I	V	-	1	0	HLA-DPA1	33145525	0.000000	0.05858	0.181000	0.23098	0.769000	0.43574	-1.050000	0.03510	-0.177000	0.10690	0.643000	0.83706	GTC		0.458	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		41	28	0	0	0	1	0	41	28				
KIAA1549L	25758	broad.mit.edu	37	11	33581397	33581397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:33581397C>T	ENST00000321505.4	+	6	3247	c.3067C>T	c.(3067-3069)Cag>Tag	p.Q1023*	KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.Q1029*|KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Q1029*			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1023						integral component of membrane (GO:0016021)											CCTCCTCAGCCAGCTCTCGGC	0.597																																						ENST00000321505.4																			0											c.(3067-3069)Cag>Tag		KIAA1549-like							116.0	122.0	120.0					11																	33581397		2137	4234	6371	SO:0001587	stop_gained	25758							g.chr11:33581397C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3067C>T	11.37:g.33581397C>T	ENSP00000315295:p.Gln1023*					KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Q1029*|KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.Q1029*	p.Q1023*							6	3247	+								B0QYU0	Nonsense_Mutation	SNP	ENST00000321505.4	37	c.3067C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	44	10.708088	0.99454	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.45	5.45	0.79879	.	0.226336	0.48767	D	0.000178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.6182	15.1597	0.72775	0.0:0.8593:0.1407:0.0	.	.	.	.	X	1023;1029;1029;862	.	ENSP00000265654:Q1029X	Q	+	1	0	C11orf41	33537973	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.642000	0.67888	2.715000	0.92844	0.573000	0.79308	CAG		0.597	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		59	99	0	0	0	1	0	59	99				
TRHDE	29953	broad.mit.edu	37	12	72666576	72666576	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:72666576C>T	ENST00000261180.4	+	1	114	c.18C>T	c.(16-18)gcC>gcT	p.A6A	TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	6					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAGACGACGCCGCGCTTCGGG	0.662																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(16-18)gcC>gcT		thyrotropin-releasing hormone degrading enzyme							8.0	10.0	9.0					12																	72666576		2135	4181	6316	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72666576C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.18C>T	12.37:g.72666576C>T						TRHDE-AS1_ENST00000426250.3_RNA	p.A6A	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			1	114	+			6					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.18C>T	CCDS9004.1																																																																																				0.662	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		11	10	0	0	0	1	0	11	10				
AEBP1	165	broad.mit.edu	37	7	44146234	44146234	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:44146234A>G	ENST00000223357.3	+	2	648	c.343A>G	c.(343-345)Agg>Ggg	p.R115G		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	115	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGGGTCCCCCAGGCCGCCCAA	0.577																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(343-345)Agg>Ggg		AE binding protein 1							70.0	84.0	80.0					7																	44146234		2200	4299	6499	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44146234A>G	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.343A>G	7.37:g.44146234A>G	ENSP00000223357:p.Arg115Gly						p.R115G	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			2	648	+			115			Pro-rich.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.343A>G	CCDS5476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.838|9.838	1.190282|1.190282	0.21954|0.21954	.|.	.|.	ENSG00000106624|ENSG00000106624	ENST00000455443|ENST00000223357;ENST00000449162	.|D	.|0.95821	.|-3.82	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.722447	.|0.12449	.|N	.|0.467925	D|D	0.89839|0.89839	0.6831|0.6831	N|N	0.14661|0.14661	0.345|0.345	0.48571|0.48571	D|D	0.999676|0.999676	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	D|D	0.85517|0.85517	0.1201|0.1201	5|10	.|0.87932	.|D	.|0	-24.1513|-24.1513	9.0266|9.0266	0.36234|0.36234	0.9126:0.0:0.0874:0.0|0.9126:0.0:0.0874:0.0	.|.	.|115	.|Q8IUX7	.|AEBP1_HUMAN	R|G	72|115;31	.|ENSP00000223357:R115G	.|ENSP00000223357:R115G	Q|R	+|+	2|1	0|2	AEBP1|AEBP1	44112759|44112759	0.054000|0.054000	0.20591|0.20591	0.058000|0.058000	0.19502|0.19502	0.165000|0.165000	0.22458|0.22458	2.249000|2.249000	0.43169|0.43169	1.898000|1.898000	0.54952|0.54952	0.379000|0.379000	0.24179|0.24179	CAG|AGG		0.577	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		15	5	0	0	0	1	0	15	5				
PHLDA2	7262	broad.mit.edu	37	11	2950201	2950201	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:2950201C>T	ENST00000314222.4	-	1	484	c.394G>A	c.(394-396)Gcc>Acc	p.A132T		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	132	Poly-Ala.				apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGGTGCGGCGGCCGCGGCA	0.756																																						ENST00000314222.4																			0				central_nervous_system(1)	1						c.(394-396)Gcc>Acc		pleckstrin homology-like domain, family A, member 2							4.0	7.0	6.0					11																	2950201		1545	3235	4780	SO:0001583	missense	7262				apoptosis	cytoplasm|membrane		g.chr11:2950201C>T	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"""Pleckstrin homology (PH) domain containing"""	12385	protein-coding gene	gene with protein product		602131	"""tumor suppressing subtransferable candidate 3"""	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.394G>A	11.37:g.2950201C>T	ENSP00000319231:p.Ala132Thr						p.A132T	NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	484	-		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	132			Poly-Ala.		O00496	Missense_Mutation	SNP	ENST00000314222.4	37	c.394G>A	CCDS7741.1	.	.	.	.	.	.	.	.	.	.	C	9.415	1.081429	0.20309	.	.	ENSG00000181649	ENST00000314222	T	0.76448	-1.02	1.01	-1.57	0.08506	.	4.813060	0.02303	U	0.071348	T	0.63010	0.2475	L	0.36672	1.1	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	T	0.37686	-0.9695	10	0.09338	T	0.73	.	3.0448	0.06149	0.2992:0.4042:0.2967:0.0	.	132	Q53GA4	PHLA2_HUMAN	T	132	ENSP00000319231:A132T	ENSP00000319231:A132T	A	-	1	0	PHLDA2	2906777	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.033000	0.12246	-0.575000	0.05982	-0.823000	0.03104	GCC		0.756	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030116.1	NM_003311		6	2	0	0	0	1	0	6	2				
KRTAP10-4	386672	broad.mit.edu	37	21	45994016	45994016	+	Silent	SNP	C	C	A	rs587723481	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:45994016C>A	ENST00000400374.3	+	1	411	c.381C>A	c.(379-381)ccC>ccA	p.P127P	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	127	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCTGTGTGCCCGTCTGCTGTG	0.647																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(379-381)ccC>ccA		keratin associated protein 10-4							178.0	158.0	165.0					21																	45994016		2202	4298	6500	SO:0001819	synonymous_variant	386672					keratin filament		g.chr21:45994016C>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.381C>A	21.37:g.45994016C>A						TSPEAR_ENST00000323084.4_Intron	p.P127P	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	411	+			127			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Silent	SNP	ENST00000400374.3	37	c.381C>A	CCDS42957.1																																																																																				0.647	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		20	210	1	0	2.94398e-08	1	3.08099e-08	20	210				
PLCH1	23007	broad.mit.edu	37	3	155206447	155206447	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:155206447A>G	ENST00000340059.7	-	19	2503		c.e19+1		PLCH1_ENST00000460012.1_Splice_Site|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000494598.1_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1						inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCTCATACCTACCAGGCACTA	0.408																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.e20+1		phospholipase C, eta 1							111.0	88.0	96.0					3																	155206447		2203	4300	6503	SO:0001630	splice_region_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155206447A>G	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2503+1T>C	3.37:g.155206447A>G						PLCH1_ENST00000334686.6_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000340059.7_Splice_Site|PLCH1_ENST00000494598.1_Splice_Site				Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		20	2807	-								Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Splice_Site	SNP	ENST00000340059.7	37		CCDS46939.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.735322	0.89482	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4661	0.75403	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCH1	156689141	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	8.817000	0.91985	2.038000	0.60285	0.533000	0.62120	.		0.408	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	Intron	24	28	0	0	0	1	0	24	28				
KCNA3	3738	broad.mit.edu	37	1	111217016	111217016	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:111217016T>C	ENST00000369769.2	-	1	639	c.416A>G	c.(415-417)tAc>tGc	p.Y139C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	139					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CGGGTCGAAGTACCTCATGCG	0.647																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(415-417)tAc>tGc		potassium voltage-gated channel, shaker-related subfamily, member 3							55.0	64.0	61.0					1																	111217016		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217016T>C	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.416A>G	1.37:g.111217016T>C	ENSP00000358784:p.Tyr139Cys						p.Y139C	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	639	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	139					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.416A>G	CCDS828.2	.	.	.	.	.	.	.	.	.	.	T	16.26	3.074447	0.55646	.	.	ENSG00000177272	ENST00000369769	T	0.76578	-1.03	4.52	3.36	0.38483	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.073354	0.56097	U	0.000028	D	0.87176	0.6112	H	0.94582	3.555	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.88180	0.2870	10	0.87932	D	0	.	9.388	0.38356	0.1603:0.0:0.0:0.8397	.	139	P22001	KCNA3_HUMAN	C	139	ENSP00000358784:Y139C	ENSP00000358784:Y139C	Y	-	2	0	KCNA3	111018539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.145000	0.71769	0.559000	0.29153	0.379000	0.24179	TAC		0.647	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		73	84	0	0	0	1	0	73	84				
ALDH3B1	221	broad.mit.edu	37	11	67790205	67790205	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:67790205G>A	ENST00000539229.1	+	10	1202	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	ALDH3B1_ENST00000342456.6_Silent_p.L326L|ALDH3B1_ENST00000007633.8_Silent_p.L362L|RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	364					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CCCTGGCCCTGTACGCCTTCT	0.677																																						ENST00000539229.1																			0											c.(1084-1086)ctG>ctA		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)						81.0	81.0	81.0					11																	67790205		2200	4294	6494	SO:0001819	synonymous_variant	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67790205G>A	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.1086G>A	11.37:g.67790205G>A						ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Silent_p.L326L|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Silent_p.L362L	p.L362L	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN			10	1202	+			364					A3FMP9|Q53XL5|Q8N515|Q96CK8	Silent	SNP	ENST00000539229.1	37	c.1086G>A																																																																																					0.677	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		57	56	0	0	0	1	0	57	56				
TTN	7273	broad.mit.edu	37	2	179438269	179438269	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:179438269A>G	ENST00000591111.1	-	276	67891	c.67667T>C	c.(67666-67668)gTc>gCc	p.V22556A	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V15324A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V21629A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V15257A|TTN_ENST00000460472.2_Missense_Mutation_p.V15132A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V24197A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22556	Fibronectin type-III 63. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAGCCATGACACGGAATAT	0.453																																						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.(72589-72591)gTc>gCc		titin							181.0	182.0	181.0					2																	179438269		1932	4125	6057	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438269A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67667T>C	2.37:g.179438269A>G	ENSP00000465570:p.Val22556Ala					TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V15257A|TTN_ENST00000342992.6_Missense_Mutation_p.V21629A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V15324A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V15132A|TTN_ENST00000591111.1_Missense_Mutation_p.V22556A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.V24197A	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)		326	72814	-			22556			Ig-like 121.		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.72590T>C		.	.	.	.	.	.	.	.	.	.	A	13.78	2.339874	0.41398	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	6.08	6.08	0.98989	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89518	0.6738	H	0.98754	4.32	0.58432	D	0.999999	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.51453	0.67;0.67;0.67;0.67	D	0.93446	0.6798	9	0.87932	D	0	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	15132;15257;15324;22556	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	21629;15132;15324;15257;15130	ENSP00000343764:V21629A;ENSP00000434586:V15132A;ENSP00000340554:V15324A;ENSP00000352154:V15257A	ENSP00000340554:V15324A	V	-	2	0	TTN	179146515	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	GTC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		81	158	0	0	0	1	0	81	158				
ZNF260	339324	broad.mit.edu	37	19	37005246	37005246	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:37005246T>C	ENST00000523638.1	-	3	2016	c.895A>G	c.(895-897)Aca>Gca	p.T299A	ZNF260_ENST00000593142.1_Missense_Mutation_p.T299A|ZNF260_ENST00000588993.1_Missense_Mutation_p.T299A|ZNF260_ENST00000592282.1_Missense_Mutation_p.T299A	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	299					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTCTCTCCTGTATGAATATTG	0.353																																						ENST00000523638.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(895-897)Aca>Gca		zinc finger protein 260							136.0	129.0	132.0					19																	37005246		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005246T>C	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.895A>G	19.37:g.37005246T>C	ENSP00000429803:p.Thr299Ala					ZNF260_ENST00000588993.1_Missense_Mutation_p.T299A|ZNF260_ENST00000592282.1_Missense_Mutation_p.T299A|ZNF260_ENST00000593142.1_Missense_Mutation_p.T299A	p.T299A	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN			3	2016	-	Esophageal squamous(110;0.162)		299					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.895A>G	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118091	0.77323	.	.	ENSG00000254004	ENST00000523638	T	0.26518	1.73	4.54	4.54	0.55810	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38639	0.1048	M	0.64997	1.995	0.44736	D	0.997734	P	0.52316	0.952	P	0.52386	0.697	T	0.31613	-0.9937	9	0.72032	D	0.01	.	13.268	0.60146	0.0:0.0:0.0:1.0	.	299	Q3ZCT1	ZN260_HUMAN	A	299	ENSP00000429803:T299A	ENSP00000429803:T299A	T	-	1	0	ZNF260	41697086	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.013000	0.49582	2.019000	0.59389	0.459000	0.35465	ACA		0.353	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		53	50	0	0	0	1	0	53	50				
SCARB2	950	broad.mit.edu	37	4	77091020	77091020	+	Splice_Site	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:77091020A>C	ENST00000264896.2	-	8	1462	c.1113T>G	c.(1111-1113)ccT>ccG	p.P371P	SCARB2_ENST00000452464.2_Splice_Site_p.P228P	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	371					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			ATGTACTCACAGGATTAATGT	0.393																																						ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.e8+1		scavenger receptor class B, member 2							147.0	140.0	143.0					4																	77091020		2203	4300	6503	SO:0001630	splice_region_variant	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77091020A>C	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1113+1T>G	4.37:g.77091020A>C						SCARB2_ENST00000452464.2_Splice_Site_p.P228_splice	p.P371_splice	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		8	1462	-			371					B4DKD8|E7EM68|Q53Y63	Splice_Site	SNP	ENST00000264896.2	37	c.1113_splice	CCDS3577.1																																																																																				0.393	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506	Silent	38	61	0	0	0	1	0	38	61				
YEATS2	55689	broad.mit.edu	37	3	183515755	183515755	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:183515755G>A	ENST00000305135.5	+	22	3337	c.3142G>A	c.(3142-3144)Gtc>Atc	p.V1048I		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1048					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCAGCAGGCCGTCCTGACGAT	0.512																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(3142-3144)Gtc>Atc		YEATS domain containing 2							100.0	102.0	101.0					3																	183515755		2072	4203	6275	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183515755G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3142G>A	3.37:g.183515755G>A	ENSP00000306983:p.Val1048Ile						p.V1048I	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3337	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1048					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.3142G>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198074	0.58126	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.42900	0.96	5.98	5.06	0.68205	.	0.000000	0.64402	D	0.000001	T	0.28400	0.0702	L	0.32530	0.975	0.46564	D	0.999106	P	0.47253	0.892	B	0.32465	0.146	T	0.09443	-1.0674	10	0.38643	T	0.18	-20.9657	15.0763	0.72080	0.0:0.1409:0.859:0.0	.	1048	Q9ULM3	YETS2_HUMAN	I	1048	ENSP00000306983:V1048I	ENSP00000306983:V1048I	V	+	1	0	YEATS2	184998449	1.000000	0.71417	0.971000	0.41717	0.494000	0.33585	5.459000	0.66685	2.838000	0.97847	0.591000	0.81541	GTC		0.512	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		29	35	0	0	0	1	0	29	35				
FBXO45	200933	broad.mit.edu	37	3	196304421	196304421	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:196304421A>G	ENST00000311630.6	+	2	713	c.416A>G	c.(415-417)cAg>cGg	p.Q139R	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	139	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCCATTGCTCAGAGCACTGAT	0.498																																						ENST00000311630.6																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(415-417)cAg>cGg		F-box protein 45							60.0	57.0	58.0					3																	196304421		1941	4133	6074	SO:0001583	missense	200933				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding	g.chr3:196304421A>G	AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.416A>G	3.37:g.196304421A>G	ENSP00000310332:p.Gln139Arg					FBXO45_ENST00000440469.1_5'UTR	p.Q139R	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	2	713	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		139			B30.2/SPRY.		A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	c.416A>G	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451929	0.84209	.	.	ENSG00000174013	ENST00000311630	T	0.59502	0.26	4.89	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.81711	-0.0808	10	0.87932	D	0	-17.4848	14.6703	0.68939	1.0:0.0:0.0:0.0	.	139	P0C2W1	FBSP1_HUMAN	R	139	ENSP00000310332:Q139R	ENSP00000310332:Q139R	Q	+	2	0	FBXO45	197788818	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.490000	0.90464	2.066000	0.61787	0.379000	0.24179	CAG		0.498	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2			13	20	0	0	0	1	0	13	20				
NET1	10276	broad.mit.edu	37	10	5494824	5494824	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:5494824A>G	ENST00000355029.4	+	6	677	c.535A>G	c.(535-537)Ata>Gta	p.I179V	NET1_ENST00000380359.3_Missense_Mutation_p.I125V|NET1_ENST00000542715.1_5'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	179	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						TTTTTAGGCAATATATGAAAT	0.323																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(535-537)Ata>Gta		neuroepithelial cell transforming 1							93.0	96.0	95.0					10																	5494824		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5494824A>G	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.535A>G	10.37:g.5494824A>G	ENSP00000347134:p.Ile179Val					NET1_ENST00000380359.3_Missense_Mutation_p.I125V|NET1_ENST00000542715.1_5'UTR	p.I179V	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			6	677	+			179			DH.		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.535A>G	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582974	0.86748	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.66099	-0.19;-0.19	6.07	6.07	0.98685	Dbl homology (DH) domain (5);	0.000000	0.46758	D	0.000267	T	0.81669	0.4871	M	0.87900	2.915	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73708	0.981;0.981	D	0.84883	0.0832	10	0.87932	D	0	-21.0565	15.4529	0.75290	1.0:0.0:0.0:0.0	.	125;179	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	V	179;125	ENSP00000347134:I179V;ENSP00000369717:I125V	ENSP00000347134:I179V	I	+	1	0	NET1	5484824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.268000	0.95675	2.326000	0.78906	0.533000	0.62120	ATA		0.323	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		9	73	0	0	0	1	0	9	73				
CCDC157	550631	broad.mit.edu	37	22	30771603	30771603	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:30771603A>G	ENST00000405659.1	+	10	2517	c.1808A>G	c.(1807-1809)cAa>cGa	p.Q603R	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Missense_Mutation_p.Q603R			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	603										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GGGCGGCTCCAATCAATGCTG	0.617																																						ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(1807-1809)cAa>cGa		coiled-coil domain containing 157							61.0	57.0	58.0					22																	30771603		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30771603A>G	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1808A>G	22.37:g.30771603A>G	ENSP00000385357:p.Gln603Arg					CCDC157_ENST00000338306.3_Missense_Mutation_p.Q603R|RP1-130H16.16_ENST00000332468.4_RNA	p.Q603R			Q569K6	CC157_HUMAN			10	2517	+			603					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.1808A>G	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123854	0.37436	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.77098	-1.07;-1.07	5.24	-0.266	0.12942	.	0.663319	0.14655	N	0.306378	T	0.46698	0.1406	N	0.03050	-0.425	0.33183	D	0.549875	B	0.06786	0.001	B	0.08055	0.003	T	0.46721	-0.9171	10	0.07175	T	0.84	-9.254	8.2082	0.31467	0.3682:0.0:0.6318:0.0	.	603	Q569K6	CC157_HUMAN	R	603	ENSP00000385357:Q603R;ENSP00000343087:Q603R	ENSP00000343087:Q603R	Q	+	2	0	CCDC157	29101603	0.000000	0.05858	0.167000	0.22817	0.870000	0.49936	-0.093000	0.11111	-0.171000	0.10797	0.533000	0.62120	CAA		0.617	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		26	34	0	0	0	1	0	26	34				
ZNF22	7570	broad.mit.edu	37	10	45499133	45499133	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:45499133C>T	ENST00000298299.3	+	2	910	c.317C>T	c.(316-318)aCg>aTg	p.T106M	C10orf25_ENST00000298298.1_5'Flank|CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	106					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				CGGATCCATACGGGGGAAAAG	0.418																																						ENST00000298299.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8						c.(316-318)aCg>aTg		zinc finger protein 22							61.0	61.0	61.0					10																	45499133		2203	4300	6503	SO:0001583	missense	7570				odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding	g.chr10:45499133C>T	BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"""Zinc fingers, C2H2-type"""	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.317C>T	10.37:g.45499133C>T	ENSP00000298299:p.Thr106Met					CEP164P1_ENST00000456938.2_RNA	p.T106M	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN			2	910	+		Prostate(175;0.0352)|all_neural(218;0.202)	106					Q5T741|Q96FM4	Missense_Mutation	SNP	ENST00000298299.3	37	c.317C>T	CCDS7211.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362498	0.61403	.	.	ENSG00000165512	ENST00000298299	T	0.26373	1.74	5.02	4.11	0.48088	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000109	T	0.50939	0.1645	M	0.79693	2.465	0.44745	D	0.997741	D	0.89917	1.0	D	0.68943	0.961	T	0.58244	-0.7670	10	0.87932	D	0	-26.9195	13.2942	0.60288	0.0:0.8399:0.1601:0.0	.	106	P17026	ZNF22_HUMAN	M	106	ENSP00000298299:T106M	ENSP00000298299:T106M	T	+	2	0	ZNF22	44819139	0.998000	0.40836	0.265000	0.24526	0.708000	0.40852	3.907000	0.56348	1.310000	0.45006	-0.165000	0.13383	ACG		0.418	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1	NM_006963		24	60	0	0	0	1	0	24	60				
FBL	2091	broad.mit.edu	37	19	40331278	40331278	+	Missense_Mutation	SNP	C	C	T	rs139541583		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:40331278C>T	ENST00000221801.3	-	2	273	c.160G>A	c.(160-162)Ggt>Agt	p.G54S	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	54	DMA/Gly-rich.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		cctcctccaccgccgccgccg	0.662																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(160-162)Ggt>Agt		fibrillarin		C	SER/GLY	2,4398		0,2,2198	18.0	21.0	20.0		160	0.5	0.0	19	dbSNP_134	20	3,8595		0,3,4296	yes	missense	FBL	NM_001436.3	56	0,5,6494	TT,TC,CC		0.0349,0.0455,0.0385	probably-damaging	54/322	40331278	5,12993	2200	4299	6499	SO:0001583	missense	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331278C>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.160G>A	19.37:g.40331278C>T	ENSP00000221801:p.Gly54Ser						p.G54S	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	2	273	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	54			DMA/Gly-rich.		B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	c.160G>A	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605124	0.28623	4.55E-4	3.49E-4	ENSG00000105202	ENST00000221801	D	0.83419	-1.72	0.483	0.483	0.16820	.	0.718572	0.11327	N	0.575468	T	0.75686	0.3883	N	0.08118	0	0.09310	N	0.999996	D;D	0.67145	0.996;0.996	P;P	0.59703	0.862;0.862	T	0.65409	-0.6175	9	0.33141	T	0.24	.	.	.	.	.	54;54	B4DLD4;P22087	.;FBRL_HUMAN	S	54	ENSP00000221801:G54S	ENSP00000221801:G54S	G	-	1	0	FBL	45023118	0.098000	0.21812	0.004000	0.12327	0.080000	0.17528	2.099000	0.41767	0.502000	0.28037	0.505000	0.49811	GGT		0.662	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		17	17	0	0	0	1	0	17	17				
PTPRD	5789	broad.mit.edu	37	9	8521547	8521547	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:8521547C>T	ENST00000381196.4	-	17	1235		c.e17-1		PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000537002.1_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000397617.3_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000397606.3_Splice_Site	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACACGGCGAACTGGAACAAAA	0.438										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.e17-1		protein tyrosine phosphatase, receptor type, D							87.0	74.0	79.0					9																	8521547		2203	4300	6503	SO:0001630	splice_region_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8521547C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.692-1G>A	9.37:g.8521547C>T		TSP Lung(15;0.13)				PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000397606.3_Splice_Site|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000397617.3_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000537002.1_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site		NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	17	1235	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)						B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Splice_Site	SNP	ENST00000381196.4	37		CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790820	0.90367	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRD	8511547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.688000	0.91661	0.563000	0.77884	.		0.438	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		Intron	34	45	0	0	0	1	0	34	45				
NSD1	64324	broad.mit.edu	37	5	176696631	176696631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176696631C>T	ENST00000439151.2	+	16	5377	c.5332C>T	c.(5332-5334)Cga>Tga	p.R1778*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1509*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1675*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1509*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1778	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R1778*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTGCCATCCTCGAGCTGTTCC	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Nonsense(2)	p.R1778*(2)	lung(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	GRCh37	CM030076	NSD1	M		c.(5332-5334)Cga>Tga		nuclear receptor binding SET domain protein 1							88.0	85.0	86.0					5																	176696631		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176696631C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5332C>T	5.37:g.176696631C>T	ENSP00000395929:p.Arg1778*	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1509*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1509*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1675*	p.R1778*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	16	5377	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1778			PWWP 2.		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.5332C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	44	10.650110	0.99444	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.89	5.02	0.67125	.	0.000000	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4373	0.32795	0.246:0.6776:0.0:0.0764	.	.	.	.	X	1509;1778;1509;1675	.	ENSP00000343209:R1509X	R	+	1	2	NSD1	176629237	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.878000	0.48515	1.495000	0.48549	0.585000	0.79938	CGA		0.468	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		50	34	0	0	0	1	0	50	34				
CLCN4	1183	broad.mit.edu	37	X	10153098	10153098	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:10153098G>A	ENST00000380833.4	+	3	417	c.26G>A	c.(25-27)gGc>gAc	p.G9D	CLCN4_ENST00000380829.1_Missense_Mutation_p.G9D|CLCN4_ENST00000421085.2_Intron	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	9					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGATGAGTGGCTCTGGAAAC	0.517																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(25-27)gGc>gAc		chloride channel, voltage-sensitive 4							181.0	141.0	154.0					X																	10153098		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10153098G>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.26G>A	X.37:g.10153098G>A	ENSP00000370213:p.Gly9Asp					CLCN4_ENST00000380829.1_Missense_Mutation_p.G9D|CLCN4_ENST00000421085.2_Intron	p.G9D	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			3	417	+			9					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.26G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274389	0.59649	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000454850	D;D;D	0.91464	-2.44;-2.83;-2.85	5.04	0.874	0.19124	.	0.162163	0.53938	D	0.000045	D	0.86377	0.5918	L	0.59436	1.845	0.80722	D	1	P	0.48640	0.913	B	0.35182	0.197	D	0.83588	0.0121	10	0.51188	T	0.08	-10.8965	16.3364	0.83064	0.0:0.5128:0.4872:0.0	.	9	P51793	CLCN4_HUMAN	D	9	ENSP00000370213:G9D;ENSP00000370209:G9D;ENSP00000403064:G9D	ENSP00000370209:G9D	G	+	2	0	CLCN4	10113098	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	3.849000	0.55910	-0.175000	0.10725	0.594000	0.82650	GGC		0.517	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			5	107	0	0	0	1	0	5	107				
KCNQ4	9132	broad.mit.edu	37	1	41284281	41284281	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:41284281C>T	ENST00000347132.5	+	4	719	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R213C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	213					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GCAGATCCTGCGCATGGTGCG	0.687																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(637-639)Cgc>Tgc		potassium voltage-gated channel, KQT-like subfamily, member 4							20.0	20.0	20.0					1																	41284281		2201	4294	6495	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41284281C>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.637C>T	1.37:g.41284281C>T	ENSP00000262916:p.Arg213Cys					KCNQ4_ENST00000509682.2_Missense_Mutation_p.R213C	p.R213C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		4	719	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	213					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.637C>T	CCDS456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.507300|5.507300	0.96386|0.96386	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000443478|ENST00000347132;ENST00000509682	.|D;D	.|0.98849	.|-5.18;-5.18	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Ion transport (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99363|0.99363	0.9776|0.9776	H|H	0.94771|0.94771	3.58|3.58	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.938	D|D	0.98640|0.98640	1.0675|1.0675	5|10	.|0.87932	.|D	.|0	-20.2322|-20.2322	15.9289|15.9289	0.79644|0.79644	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|213;213	.|P56696-2;P56696	.|.;KCNQ4_HUMAN	V|C	108|213	.|ENSP00000262916:R213C;ENSP00000423756:R213C	.|ENSP00000262916:R213C	A|R	+|+	2|1	0|0	KCNQ4|KCNQ4	41056868|41056868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.574000|7.574000	0.82434|0.82434	2.615000|2.615000	0.88500|0.88500	0.650000|0.650000	0.86243|0.86243	GCG|CGC		0.687	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		23	25	0	0	0	1	0	23	25				
RXFP2	122042	broad.mit.edu	37	13	32351561	32351561	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:32351561G>A	ENST00000298386.2	+	8	761	c.690G>A	c.(688-690)acG>acA	p.T230T	RXFP2_ENST00000380314.1_Silent_p.T230T	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	230					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GCTTGTTTACGGGATTAAATT	0.318																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(688-690)acG>acA		relaxin/insulin-like family peptide receptor 2							126.0	119.0	121.0					13																	32351561		2202	4298	6500	SO:0001819	synonymous_variant	122042					integral to membrane|plasma membrane		g.chr13:32351561G>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.690G>A	13.37:g.32351561G>A						RXFP2_ENST00000380314.1_Silent_p.T230T	p.T230T	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	8	761	+		Lung SC(185;0.0262)	230					B1ALE9|Q3KU23	Silent	SNP	ENST00000298386.2	37	c.690G>A	CCDS9342.1																																																																																				0.318	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		6	13	0	0	0	1	0	6	13				
BIRC6	57448	broad.mit.edu	37	2	32768513	32768513	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:32768513G>A	ENST00000421745.2	+	62	12631	c.12497G>A	c.(12496-12498)cGt>cAt	p.R4166H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4166					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTATTTCTTCGTCTTCCGGGC	0.483																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(12496-12498)cGt>cAt		baculoviral IAP repeat containing 6							244.0	211.0	222.0					2																	32768513		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32768513G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12497G>A	2.37:g.32768513G>A	ENSP00000393596:p.Arg4166His						p.R4166H	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			62	12631	+	Acute lymphoblastic leukemia(172;0.155)		4166					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.12497G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	35	5.437044	0.96168	.	.	ENSG00000115760	ENST00000421745	T	0.78816	-1.21	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.86426	0.5930	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.87171	0.2221	10	0.87932	D	0	.	19.4789	0.95000	0.0:0.0:1.0:0.0	.	4166	Q9NR09	BIRC6_HUMAN	H	4166	ENSP00000393596:R4166H	ENSP00000393596:R4166H	R	+	2	0	BIRC6	32622017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.598000	0.87819	0.650000	0.86243	CGT		0.483	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		92	132	0	0	0	1	0	92	132				
KLC4	89953	broad.mit.edu	37	6	43034148	43034148	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:43034148C>T	ENST00000394056.2	+	6	1171	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	KLC4_ENST00000453940.2_Missense_Mutation_p.R149C|KLC4_ENST00000479388.1_Missense_Mutation_p.R226C|KLC4_ENST00000347162.5_Missense_Mutation_p.R226C|KLC4_ENST00000259708.3_Missense_Mutation_p.R244C|KLC4_ENST00000458460.2_Missense_Mutation_p.R226C|KLC4_ENST00000394058.1_Missense_Mutation_p.R226C			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	226						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)			AGCCCAAGGTCGCTATGAGGT	0.597																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(676-678)Cgc>Tgc		kinesin light chain 4							153.0	125.0	135.0					6																	43034148		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43034148C>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.676C>T	6.37:g.43034148C>T	ENSP00000377620:p.Arg226Cys					KLC4_ENST00000394058.1_Missense_Mutation_p.R226C|KLC4_ENST00000259708.3_Missense_Mutation_p.R244C|KLC4_ENST00000347162.5_Missense_Mutation_p.R226C|KLC4_ENST00000453940.2_Missense_Mutation_p.R149C|KLC4_ENST00000458460.2_Missense_Mutation_p.R226C|KLC4_ENST00000479388.1_Missense_Mutation_p.R226C	p.R226C			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)		6	1171	+			226					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.676C>T	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734544	0.69189	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000479632;ENST00000470728;ENST00000458460;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.47	4.47	0.54385	Tetratricopeptide-like helical (1);Rabaptin, GTPase-Rab5 binding (1);Tetratricopeptide repeat-containing (1);	0.329961	0.26658	N	0.023176	T	0.69233	0.3088	M	0.87617	2.895	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.997;0.995;1.0	D;P;P;D	0.77004	0.989;0.799;0.684;0.923	T	0.74743	-0.3562	10	0.87932	D	0	-19.0161	12.4036	0.55426	0.1683:0.8317:0.0:0.0	.	149;244;226;226	B4DME9;Q9NSK0-3;Q9NSK0;Q96EG6	.;.;KLC4_HUMAN;.	C	226;149;139;204;226;244;226;226;226	ENSP00000340221:R226C;ENSP00000395806:R149C;ENSP00000419784:R139C;ENSP00000417652:R204C;ENSP00000410358:R226C;ENSP00000259708:R244C;ENSP00000418031:R226C;ENSP00000377620:R226C;ENSP00000377622:R226C	ENSP00000259708:R244C	R	+	1	0	KLC4	43142126	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.816000	0.48026	2.473000	0.83533	0.650000	0.86243	CGC		0.597	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		43	84	0	0	0	1	0	43	84				
COL4A2	1284	broad.mit.edu	37	13	111117897	111117897	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:111117897C>A	ENST00000360467.5	+	25	2228	c.1922C>A	c.(1921-1923)cCt>cAt	p.P641H	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	641	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCCGGCTTACCTGGACCACCA	0.597																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1921-1923)cCt>cAt		collagen, type IV, alpha 2							32.0	37.0	35.0					13																	111117897		1866	4090	5956	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111117897C>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1922C>A	13.37:g.111117897C>A	ENSP00000353654:p.Pro641His						p.P641H	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		25	2228	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	641			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1922C>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	5.747	0.322188	0.10900	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96168	-3.93	4.82	1.79	0.24919	.	1.130710	0.06788	N	0.786527	D	0.93664	0.7976	M	0.66939	2.045	0.09310	N	1	P	0.39964	0.697	B	0.41691	0.364	D	0.86619	0.1878	10	0.66056	D	0.02	.	2.4361	0.04483	0.2871:0.2975:0.3203:0.0952	.	641	P08572	CO4A2_HUMAN	H	641	ENSP00000353654:P641H	ENSP00000257309:P641H	P	+	2	0	COL4A2	109915898	0.000000	0.05858	0.130000	0.21974	0.355000	0.29361	0.544000	0.23253	1.023000	0.39654	0.462000	0.41574	CCT		0.597	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		35	32	1	0	1.06647e-15	1	1.15184e-15	35	32				
PCDHGB7	56099	broad.mit.edu	37	5	140799074	140799074	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140799074G>A	ENST00000398594.2	+	1	1648	c.1648G>A	c.(1648-1650)Gtg>Atg	p.V550M	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	550	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGCGCGTGTTGGTGGG	0.721																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1648-1650)Gtg>Atg									28.0	35.0	32.0					5																	140799074		2081	4199	6280	SO:0001583	missense	0							g.chr5:140799074G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1648G>A	5.37:g.140799074G>A	ENSP00000381594:p.Val550Met					PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron	p.V550M	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1648	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1648G>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	16.22	3.061675	0.55432	.	.	ENSG00000254122	ENST00000398594	T	0.62232	0.04	5.38	4.5	0.54988	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.30076	U	0.010477	T	0.80660	0.4665	M	0.91561	3.22	0.24603	N	0.993761	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.73553	-0.3946	10	0.87932	D	0	.	9.5735	0.39442	0.158:0.0:0.842:0.0	.	550;550	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	M	550	ENSP00000381594:V550M	ENSP00000381594:V550M	V	+	1	0	PCDHGB7	140779258	0.791000	0.28800	1.000000	0.80357	0.988000	0.76386	1.080000	0.30779	2.513000	0.84729	0.491000	0.48974	GTG		0.721	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		23	71	0	0	0	1	0	23	71				
SLC34A2	10568	broad.mit.edu	37	4	25675930	25675930	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:25675930C>A	ENST00000382051.3	+	11	1279	c.1229C>A	c.(1228-1230)cCc>cAc	p.P410H	SLC34A2_ENST00000504570.1_Missense_Mutation_p.P409H|SLC34A2_ENST00000503434.1_Missense_Mutation_p.P409H	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	410					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCCCTTTCCCTTTGCATGG	0.602			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1228-1230)cCc>cAc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							204.0	155.0	172.0					4																	25675930		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25675930C>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1229C>A	4.37:g.25675930C>A	ENSP00000371483:p.Pro410His					SLC34A2_ENST00000504570.1_Missense_Mutation_p.P409H|SLC34A2_ENST00000503434.1_Missense_Mutation_p.P409H	p.P410H	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			11	1279	+		Breast(46;0.0503)	410					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1229C>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225435	0.79576	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.88046	-2.33;-2.33;-2.33	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.95433	0.8517	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96165	0.9118	10	0.66056	D	0.02	-34.8044	19.0968	0.93255	0.0:1.0:0.0:0.0	.	409;410	O95436-2;O95436	.;NPT2B_HUMAN	H	409;410;409	ENSP00000425501:P409H;ENSP00000371483:P410H;ENSP00000423021:P409H	ENSP00000371483:P410H	P	+	2	0	SLC34A2	25285028	1.000000	0.71417	0.932000	0.37286	0.702000	0.40608	6.084000	0.71335	2.596000	0.87737	0.561000	0.74099	CCC		0.602	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		22	45	1	0	7.41877e-09	1	7.82003e-09	22	45				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		7	169	0	0	0	1	0	7	169				
INPP5D	3635	broad.mit.edu	37	2	234070428	234070428	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:234070428C>T	ENST00000359570.5	+	13	1160	c.1160C>T	c.(1159-1161)cCg>cTg	p.P387L	INPP5D_ENST00000455936.2_Missense_Mutation_p.P151L|INPP5D_ENST00000450745.1_Missense_Mutation_p.P151L|INPP5D_ENST00000538935.1_Missense_Mutation_p.P386L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	399					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCAGAGCAGCCGGAGCCCGAC	0.587																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1159-1161)cCg>cTg		inositol polyphosphate-5-phosphatase, 145kDa							45.0	51.0	49.0					2																	234070428		2195	4299	6494	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234070428C>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1160C>T	2.37:g.234070428C>T	ENSP00000352575:p.Pro387Leu					INPP5D_ENST00000455936.2_Missense_Mutation_p.P151L|INPP5D_ENST00000450745.1_Missense_Mutation_p.P151L|INPP5D_ENST00000538935.1_Missense_Mutation_p.P386L	p.P387L			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	13	1160	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	399					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.1160C>T		.	.	.	.	.	.	.	.	.	.	C	17.34	3.365594	0.61513	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	4.69	4.69	0.59074	Endonuclease/exonuclease/phosphatase (1);	0.274640	0.42053	D	0.000761	D	0.91123	0.7205	.	.	.	0.50313	D	0.999864	P;B	0.35456	0.502;0.202	B;B	0.21546	0.035;0.015	D	0.91692	0.5367	9	0.66056	D	0.02	.	18.1643	0.89719	0.0:1.0:0.0:0.0	.	398;399	Q92835-2;Q92835	.;SHIP1_HUMAN	L	387;386;151;151;20;20;20	ENSP00000352575:P387L;ENSP00000441010:P386L;ENSP00000407916:P151L;ENSP00000404610:P151L;ENSP00000400151:P20L;ENSP00000397421:P20L;ENSP00000405338:P20L	ENSP00000352575:P387L	P	+	2	0	INPP5D	233734478	0.999000	0.42202	0.994000	0.49952	0.987000	0.75469	4.232000	0.58645	2.583000	0.87209	0.655000	0.94253	CCG		0.587	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		13	10	0	0	0	1	0	13	10				
PCNXL3	399909	broad.mit.edu	37	11	65402797	65402797	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:65402797C>T	ENST00000355703.3	+	31	5601	c.5062C>T	c.(5062-5064)Cgc>Tgc	p.R1688C	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1688						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCAGCATGGCGCAGCGCCAT	0.612																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(5062-5064)Cgc>Tgc		pecanex-like 3 (Drosophila)							23.0	24.0	23.0					11																	65402797		2044	4175	6219	SO:0001583	missense	399909					integral to membrane		g.chr11:65402797C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5062C>T	11.37:g.65402797C>T	ENSP00000347931:p.Arg1688Cys						p.R1688C	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			31	5601	+			1688					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.5062C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950631	0.73787	.	.	ENSG00000197136	ENST00000355703	T	0.52754	0.65	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.91406	3.205	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76366	-0.2985	10	0.87932	D	0	.	9.0232	0.36213	0.2201:0.7799:0.0:0.0	.	575;1688	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	C	1688	ENSP00000347931:R1688C	ENSP00000347931:R1688C	R	+	1	0	PCNXL3	65159373	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.256000	0.51492	2.097000	0.63578	0.462000	0.41574	CGC		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		12	7	0	0	0	1	0	12	7				
SLC16A11	162515	broad.mit.edu	37	17	6946780	6946780	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:6946780G>A	ENST00000308009.1	-	1	462	c.125C>T	c.(124-126)gCg>gTg	p.A42V	SLC16A11_ENST00000447225.1_Missense_Mutation_p.A18V	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	42					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGCTGCGGCCGCCACCACCCA	0.697																																						ENST00000308009.1																			0				endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						c.(124-126)gCg>gTg		solute carrier family 16, member 11							8.0	11.0	10.0					17																	6946780		2148	4198	6346	SO:0001583	missense	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6946780G>A	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.125C>T	17.37:g.6946780G>A	ENSP00000310490:p.Ala42Val					SLC16A11_ENST00000447225.1_Missense_Mutation_p.A18V	p.A42V	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN			1	462	-			42						Missense_Mutation	SNP	ENST00000308009.1	37	c.125C>T	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864269	0.32977	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.10005	2.92;2.92	5.61	2.57	0.30868	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.127526	0.53938	N	0.000060	T	0.02012	0.0063	N	0.00456	-1.48	0.34847	D	0.741241	B	0.14438	0.01	B	0.15484	0.013	T	0.39187	-0.9626	10	0.02654	T	1	.	6.7487	0.23475	0.3472:0.0:0.6528:0.0	.	42	Q8NCK7	MOT11_HUMAN	V	42;18	ENSP00000310490:A42V;ENSP00000394449:A18V	ENSP00000310490:A42V	A	-	2	0	SLC16A11	6887504	0.996000	0.38824	0.996000	0.52242	0.941000	0.58515	2.927000	0.48900	0.750000	0.32877	-0.440000	0.05779	GCG		0.697	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		15	11	0	0	0	1	0	15	11				
ABCG8	64241	broad.mit.edu	37	2	44105047	44105047	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:44105047T>C	ENST00000272286.2	+	13	2107	c.2017T>C	c.(2017-2019)Tgg>Cgg	p.W673R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	673					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AAGTCAAGACTGGTGATTCAC	0.562											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(2017-2019)Tgg>Cgg		ATP-binding cassette, sub-family G (WHITE), member 8							120.0	99.0	106.0					2																	44105047		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44105047T>C	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.2017T>C	2.37:g.44105047T>C	ENSP00000272286:p.Trp673Arg		OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921		p.W673R	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			13	2107	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	673					Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.2017T>C	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390927	0.82902	.	.	ENSG00000143921	ENST00000272286	D	0.88896	-2.44	5.48	5.48	0.80851	.	0.061911	0.64402	D	0.000001	D	0.92916	0.7746	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93681	0.6998	10	0.87932	D	0	.	15.5924	0.76543	0.0:0.0:0.0:1.0	.	672;673	Q9H221-2;Q9H221	.;ABCG8_HUMAN	R	673	ENSP00000272286:W673R	ENSP00000272286:W673R	W	+	1	0	ABCG8	43958551	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.634000	0.83273	2.084000	0.62774	0.533000	0.62120	TGG		0.562	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		22	32	0	0	0	1	0	22	32				
DHX29	54505	broad.mit.edu	37	5	54570837	54570837	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:54570837T>C	ENST00000251636.5	-	15	2577	c.2429A>G	c.(2428-2430)gAa>gGa	p.E810G	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	810						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TGGGATGTATTCCTAAAAGAA	0.358																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.e15-1		DEAH (Asp-Glu-Ala-His) box polypeptide 29							60.0	61.0	60.0					5																	54570837		2203	4300	6503	SO:0001630	splice_region_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54570837T>C	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2428-1A>G	5.37:g.54570837T>C						RP11-506H20.1_ENST00000506435.1_RNA	p.E810_splice	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			15	2577	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	810					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Splice_Site	SNP	ENST00000251636.5	37	c.2427_splice	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938511	0.73557	.	.	ENSG00000067248	ENST00000251636	T	0.15139	2.45	5.1	5.1	0.69264	.	0.045968	0.85682	D	0.000000	T	0.30572	0.0769	M	0.80183	2.485	0.58432	D	0.999999	P	0.48998	0.918	P	0.46885	0.53	T	0.12502	-1.0545	10	0.39692	T	0.17	.	15.1882	0.73023	0.0:0.0:0.0:1.0	.	810	Q7Z478	DHX29_HUMAN	G	810	ENSP00000251636:E810G	ENSP00000251636:E810G	E	-	2	0	DHX29	54606594	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.780000	0.62382	2.054000	0.61138	0.460000	0.39030	GAA		0.358	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030	Missense_Mutation	38	27	0	0	0	1	0	38	27				
BRWD3	254065	broad.mit.edu	37	X	79973119	79973119	+	Silent	SNP	C	C	T	rs369118921		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:79973119C>T	ENST00000373275.4	-	19	2400	c.2184G>A	c.(2182-2184)gcG>gcA	p.A728A	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	728					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCTGCTCCACGCCATGAGAT	0.393																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(2182-2184)gcG>gcA		bromodomain and WD repeat domain containing 3		C		0,3835		0,0,1632,571	186.0	160.0	169.0		2184	-3.3	1.0	X		169	3,6725		0,3,2425,1872	no	coding-synonymous	BRWD3	NM_153252.4		0,3,4057,2443	TT,TC,CC,C		0.0446,0.0,0.0284		728/1803	79973119	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79973119C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2184G>A	X.37:g.79973119C>T						BRWD3_ENST00000473691.1_5'UTR	p.A728A	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			19	2400	-			728					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.2184G>A	CCDS14447.1																																																																																				0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		56	88	0	0	0	1	0	56	88				
ATP8B4	79895	broad.mit.edu	37	15	50152666	50152666	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:50152666G>T	ENST00000284509.6	-	28	3445	c.3304C>A	c.(3304-3306)Cgg>Agg	p.R1102R	ATP8B4_ENST00000559829.1_Silent_p.R1102R	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1102						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCTGCCACCGGCGGATCTGG	0.502																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(3304-3306)Cgg>Agg		ATPase, class I, type 8B, member 4							59.0	58.0	58.0					15																	50152666		2195	4293	6488	SO:0001819	synonymous_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50152666G>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3304C>A	15.37:g.50152666G>T						ATP8B4_ENST00000559829.1_Silent_p.R1102R	p.R1102R	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	28	3445	-		all_lung(180;0.00183)	1102					Q9H727	Silent	SNP	ENST00000284509.6	37	c.3304C>A	CCDS32238.1																																																																																				0.502	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		40	62	1	0	7.40236e-40	1	8.35505e-40	40	62				
MAGEE1	57692	broad.mit.edu	37	X	75649801	75649801	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:75649801A>C	ENST00000361470.2	+	1	1756	c.1478A>C	c.(1477-1479)cAg>cCg	p.Q493P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	493	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTATGGAACAGAACGTAGCT	0.493																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1477-1479)cAg>cCg		melanoma antigen family E, 1							61.0	57.0	59.0					X																	75649801		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649801A>C	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1478A>C	X.37:g.75649801A>C	ENSP00000354912:p.Gln493Pro						p.Q493P	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	1756	+			493			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1478A>C	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	A	6.108	0.388275	0.11581	.	.	ENSG00000198934	ENST00000361470	T	0.03272	3.99	2.13	0.955	0.19602	.	.	.	.	.	T	0.03053	0.0090	L	0.52011	1.625	0.21184	N	0.999767	P	0.49783	0.928	B	0.34536	0.185	T	0.44065	-0.9352	9	0.59425	D	0.04	.	3.396	0.07305	0.7778:0.0:0.2222:0.0	.	493	Q9HCI5	MAGE1_HUMAN	P	493	ENSP00000354912:Q493P	ENSP00000354912:Q493P	Q	+	2	0	MAGEE1	75566205	0.858000	0.29795	0.449000	0.26957	0.518000	0.34316	0.716000	0.25836	0.166000	0.19597	0.481000	0.45027	CAG		0.493	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		38	43	0	0	0	1	0	38	43				
MYO3A	53904	broad.mit.edu	37	10	26436415	26436415	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:26436415C>T	ENST00000265944.5	+	23	2728	c.2562C>T	c.(2560-2562)gaC>gaT	p.D854D	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	854	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTCCTACTGACATTGTGCTAC	0.393																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2560-2562)gaC>gaT		myosin IIIA							215.0	179.0	191.0					10																	26436415		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26436415C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2562C>T	10.37:g.26436415C>T						MYO3A_ENST00000543632.1_Intron	p.D854D	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			23	2728	+			854			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.2562C>T	CCDS7148.1																																																																																				0.393	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		34	75	0	0	0	1	0	34	75				
DNAJB8	165721	broad.mit.edu	37	3	128181453	128181453	+	Silent	SNP	G	G	A	rs374525334		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:128181453G>A	ENST00000469083.1	-	2	3193	c.636C>T	c.(634-636)gaC>gaT	p.D212D	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Silent_p.D212D			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	212					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGAGCTGCCCGTCTTCCTCCA	0.612																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(634-636)gaC>gaT		DnaJ (Hsp40) homolog, subfamily B, member 8		G		0,4406		0,0,2203	172.0	137.0	149.0		636	-3.1	0.9	3		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAJB8	NM_153330.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		212/233	128181453	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181453G>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.636C>T	3.37:g.128181453G>A						DNAJB8_ENST00000319153.3_Silent_p.D212D	p.D212D			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	3193	-			212					B3KWV7	Silent	SNP	ENST00000469083.1	37	c.636C>T	CCDS3048.1																																																																																				0.612	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		90	100	0	0	0	1	0	90	100				
ANKAR	150709	broad.mit.edu	37	2	190606079	190606079	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:190606079G>C	ENST00000520309.1	+	20	3800	c.3712G>C	c.(3712-3714)Gca>Cca	p.A1238P	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.A1167P|ANKAR_ENST00000313581.4_Missense_Mutation_p.A1238P	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1238						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAATTTAATAGCAAGCCTGGC	0.338																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3712-3714)Gca>Cca		ankyrin and armadillo repeat containing							58.0	60.0	59.0					2																	190606079		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190606079G>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3712G>C	2.37:g.190606079G>C	ENSP00000427882:p.Ala1238Pro					ANKAR_ENST00000313581.4_Missense_Mutation_p.A1238P|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.A1167P	p.A1238P	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		20	3800	+			1238					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.3712G>C	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432800	0.83776	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575;ENST00000374838	T;T;T	0.06933	3.24;3.24;3.24	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000003	T	0.32704	0.0838	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01711	-1.1290	10	0.72032	D	0.01	-16.2641	18.5817	0.91174	0.0:0.0:1.0:0.0	.	314	E9PHS9	.	P	1238;1238;1167;314	ENSP00000427882:A1238P;ENSP00000313513:A1238P;ENSP00000393043:A1167P	ENSP00000313513:A1238P	A	+	1	0	ANKAR	190314324	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.304000	0.72800	2.682000	0.91365	0.585000	0.79938	GCA		0.338	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		25	42	0	0	0	1	0	25	42				
IMPDH1	3614	broad.mit.edu	37	7	128037026	128037026	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:128037026G>A	ENST00000480861.1	-	8	932	c.855C>T	c.(853-855)atC>atT	p.I285I	IMPDH1_ENST00000354269.5_Silent_p.I365I|IMPDH1_ENST00000348127.6_Silent_p.I339I|IMPDH1_ENST00000470772.1_Silent_p.I289I|IMPDH1_ENST00000378717.4_Silent_p.I306I|IMPDH1_ENST00000496200.1_Silent_p.I265I|IMPDH1_ENST00000338791.6_Silent_p.I375I|IMPDH1_ENST00000343214.4_Silent_p.I265I|IMPDH1_ENST00000419067.2_Silent_p.I342I	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						ACTTCTGTTTGATGTAATGCA	0.562																																						ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(1123-1125)atC>atT		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						95.0	83.0	87.0					7																	128037026		2203	4300	6503	SO:0001819	synonymous_variant	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128037026G>A		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.855C>T	7.37:g.128037026G>A						IMPDH1_ENST00000378717.4_Silent_p.I306I|IMPDH1_ENST00000480861.1_Silent_p.I285I|IMPDH1_ENST00000470772.1_Silent_p.I289I|IMPDH1_ENST00000348127.6_Silent_p.I339I|IMPDH1_ENST00000419067.2_Silent_p.I342I|IMPDH1_ENST00000343214.4_Silent_p.I265I|IMPDH1_ENST00000496200.1_Silent_p.I265I|IMPDH1_ENST00000354269.5_Silent_p.I365I	p.I375I	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			11	1475	-			290						Silent	SNP	ENST00000480861.1	37	c.1125C>T	CCDS55161.1																																																																																				0.562	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		35	57	0	0	0	1	0	35	57				
MYH3	4621	broad.mit.edu	37	17	10555851	10555851	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:10555851G>A	ENST00000583535.1	-	4	321	c.234C>T	c.(232-234)taC>taT	p.Y78Y	MYH3_ENST00000226209.7_Silent_p.Y78Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	78					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.Y78Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGTTCATGGCGTACACATCCT	0.468																																						ENST00000583535.1																			1	Substitution - coding silent(1)	p.Y78Y(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(232-234)taC>taT		myosin, heavy chain 3, skeletal muscle, embryonic							136.0	123.0	127.0					17																	10555851		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10555851G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.234C>T	17.37:g.10555851G>A						MYH3_ENST00000226209.7_Silent_p.Y78Y	p.Y78Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			4	321	-			78			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.234C>T	CCDS11157.1																																																																																				0.468	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		45	51	0	0	0	1	0	45	51				
EPHA2	1969	broad.mit.edu	37	1	16456084	16456084	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:16456084G>A	ENST00000358432.5	-	16	2824	c.2670C>T	c.(2668-2670)cgC>cgT	p.R890R		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	890	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGATAGACACGCtgcaacagg	0.652																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.e16-1		EPH receptor A2	Dasatinib(DB01254)						30.0	30.0	30.0					1																	16456084		2203	4300	6503	SO:0001630	splice_region_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16456084G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2670-1C>T	1.37:g.16456084G>A							p.R890_splice	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	16	2824	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	890			Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.		B5A968|Q8N3Z2	Splice_Site	SNP	ENST00000358432.5	37	c.2669_splice	CCDS169.1																																																																																				0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	Silent	12	28	0	0	0	1	0	12	28				
ABCA6	23460	broad.mit.edu	37	17	67081776	67081776	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:67081776G>A	ENST00000284425.2	-	31	4193	c.4019C>T	c.(4018-4020)aCt>aTt	p.T1340I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1340	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTCTCCAGCAGTTGGCTTTGT	0.358																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(4018-4020)aCt>aTt		ATP-binding cassette, sub-family A (ABC1), member 6							96.0	85.0	88.0					17																	67081776		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67081776G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4019C>T	17.37:g.67081776G>A	ENSP00000284425:p.Thr1340Ile					ABCA6_ENST00000446604.2_5'UTR	p.T1340I	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			31	4193	-	Breast(10;5.65e-12)		1340			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4019C>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005626	0.54254	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.94330	-3.4	4.66	4.66	0.58398	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.135506	0.33916	N	0.004432	D	0.97714	0.9250	H	0.95679	3.705	0.80722	D	1	D	0.62365	0.991	D	0.79784	0.993	D	0.98792	1.0736	10	0.87932	D	0	.	17.0615	0.86548	0.0:0.0:1.0:0.0	.	1340	Q8N139	ABCA6_HUMAN	I	1340;200	ENSP00000284425:T1340I	ENSP00000284425:T1340I	T	-	2	0	ABCA6	64593371	1.000000	0.71417	0.979000	0.43373	0.149000	0.21700	8.424000	0.90267	2.576000	0.86940	0.650000	0.86243	ACT		0.358	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		13	15	0	0	0	1	0	13	15				
ASAP3	55616	broad.mit.edu	37	1	23767955	23767955	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:23767955G>T	ENST00000336689.3	-	9	803	c.759C>A	c.(757-759)gcC>gcA	p.A253A	ASAP3_ENST00000437606.2_Silent_p.A244A	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	253					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CGTCCTCCTGGGCCTGATGGA	0.582																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(757-759)gcC>gcA		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							44.0	46.0	46.0					1																	23767955		2203	4300	6503	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23767955G>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.759C>A	1.37:g.23767955G>T						ASAP3_ENST00000437606.2_Silent_p.A244A	p.A253A	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			9	803	-			253					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.759C>A	CCDS235.1																																																																																				0.582	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		9	20	1	0	0.0477658	1	0.0479846	9	20				
EXD3	54932	broad.mit.edu	37	9	140243587	140243587	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:140243587G>A	ENST00000340951.4	-	16	2000	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	EXD3_ENST00000342129.4_Missense_Mutation_p.A282V	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CGGTGCTGACGCTTTCTGCAG	0.667																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(1804-1806)gCg>gTg		exonuclease 3'-5' domain containing 3							17.0	22.0	20.0					9																	140243587		1980	4150	6130	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140243587G>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1805C>T	9.37:g.140243587G>A	ENSP00000340474:p.Ala602Val					EXD3_ENST00000342129.4_Missense_Mutation_p.A282V	p.A602V	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			16	2000	-			602					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.1805C>T	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	g	2.150	-0.394607	0.04899	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.63913	-0.07;0.63	3.35	1.35	0.21983	.	2.216530	0.02315	U	0.072500	T	0.44286	0.1286	L	0.32530	0.975	0.09310	N	1	P;P	0.43477	0.808;0.48	B;B	0.29598	0.104;0.02	T	0.38757	-0.9646	10	0.31617	T	0.26	.	4.8371	0.13469	0.1322:0.223:0.6448:0.0	.	282;602	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	V	282;602	ENSP00000343705:A282V;ENSP00000340474:A602V	ENSP00000340474:A602V	A	-	2	0	EXD3	139363408	0.005000	0.15991	0.014000	0.15608	0.006000	0.05464	0.313000	0.19415	0.195000	0.20347	0.430000	0.28490	GCG		0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		10	12	0	0	0	1	0	10	12				
PHC3	80012	broad.mit.edu	37	3	169846643	169846643	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:169846643C>T	ENST00000494943.1	-	8	1649	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	PHC3_ENST00000495893.2_Silent_p.Q539Q|PHC3_ENST00000467570.1_Silent_p.Q486Q			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	527	Gln-rich.|Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAATTTCAGGCTGCACTTGTA	0.507																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(1579-1581)caG>caA		polyhomeotic homolog 3 (Drosophila)							127.0	130.0	129.0					3																	169846643		1953	4153	6106	SO:0001819	synonymous_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169846643C>T		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1581G>A	3.37:g.169846643C>T						PHC3_ENST00000467570.1_Silent_p.Q486Q|PHC3_ENST00000495893.1_Silent_p.Q539Q	p.Q527Q			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		8	1649	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		527			Gln-rich.|Pro-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	ENST00000494943.1	37	c.1581G>A																																																																																					0.507	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		69	74	0	0	0	1	0	69	74				
FGFRL1	53834	broad.mit.edu	37	4	1017702	1017702	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1017702C>T	ENST00000398484.2	+	6	1111	c.531C>T	c.(529-531)caC>caT	p.H177H	FGFRL1_ENST00000510644.1_Silent_p.H177H|FGFRL1_ENST00000264748.6_Silent_p.H177H|FGFRL1_ENST00000504138.1_Silent_p.H177H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	177	Ig-like C2-type 2.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCAGCGGGCACCCTCGGCCCG	0.667																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(529-531)caC>caT		fibroblast growth factor receptor-like 1							19.0	20.0	19.0					4																	1017702		2178	4270	6448	SO:0001819	synonymous_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1017702C>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.531C>T	4.37:g.1017702C>T						FGFRL1_ENST00000264748.6_Silent_p.H177H|FGFRL1_ENST00000510644.1_Silent_p.H177H|FGFRL1_ENST00000504138.1_Silent_p.H177H	p.H177H			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		6	1111	+			177			Ig-like C2-type 2.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	c.531C>T	CCDS3344.1																																																																																				0.667	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		6	8	0	0	0	1	0	6	8				
PCDH12	51294	broad.mit.edu	37	5	141334689	141334689	+	Missense_Mutation	SNP	G	G	T	rs439293		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:141334689G>T	ENST00000231484.3	-	1	3938	c.2728C>A	c.(2728-2730)Ctg>Atg	p.L910M	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	910					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGTCTCAGGGTTGCAGAG	0.632																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(2728-2730)Ctg>Atg		protocadherin 12							39.0	44.0	42.0					5																	141334689		2202	4300	6502	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141334689G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2728C>A	5.37:g.141334689G>T	ENSP00000231484:p.Leu910Met						p.L910M	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3938	-		all_hematologic(541;0.0999)	910					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.2728C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282640	0.59867	.	.	ENSG00000113555	ENST00000231484	T	0.61274	0.12	5.2	4.33	0.51752	.	0.189298	0.34906	N	0.003584	T	0.71358	0.3330	M	0.66939	2.045	0.36864	D	0.888555	D	0.89917	1.0	D	0.73380	0.98	T	0.77422	-0.2594	10	0.56958	D	0.05	.	11.4754	0.50295	0.0867:0.0:0.9133:0.0	.	910	Q9NPG4	PCD12_HUMAN	M	910	ENSP00000231484:L910M	ENSP00000231484:L910M	L	-	1	2	PCDH12	141314873	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	2.329000	0.43876	1.433000	0.47394	0.655000	0.94253	CTG		0.632	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		36	85	1	0	1.96642e-18	1	2.15299e-18	36	85				
DPYSL2	1808	broad.mit.edu	37	8	26481666	26481666	+	Silent	SNP	C	C	T	rs113199330	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:26481666C>T	ENST00000311151.5	+	4	733	c.321C>T	c.(319-321)caC>caT	p.H107H	DPYSL2_ENST00000523027.1_Silent_p.H71H|DPYSL2_ENST00000521913.1_Silent_p.H71H	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	107					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TAGTTGACCACGTTGTTCCTG	0.532													C|||	26	0.00519169	0.0	0.0	5008	,	,		20200	0.0228		0.002	False		,,,				2504	0.001					ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(319-321)caC>caT		dihydropyrimidinase-like 2		C	,	0,4406		0,0,2203	125.0	116.0	119.0		636,321	-4.3	0.5	8	dbSNP_132	119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DPYSL2	NM_001197293.2,NM_001386.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	212/678,107/573	26481666	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26481666C>T	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.321C>T	8.37:g.26481666C>T						DPYSL2_ENST00000523027.1_Silent_p.H71H|DPYSL2_ENST00000521913.1_Silent_p.H71H	p.H107H	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	4	733	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	107					A8K5H2|B4DR31|D3DSS7|O00424	Silent	SNP	ENST00000311151.5	37	c.321C>T	CCDS6051.1																																																																																				0.532	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		16	104	0	0	0	1	0	16	104				
HS6ST2	90161	broad.mit.edu	37	X	132092544	132092544	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:132092544G>A	ENST00000370836.2	-	2	502	c.87C>T	c.(85-87)cgC>cgT	p.R29R	HS6ST2_ENST00000521489.1_Silent_p.R29R|HS6ST2_ENST00000370833.2_5'Flank	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	29					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TGGAATGCCGGCGGGGACAGG	0.711																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(85-87)cgC>cgT		heparan sulfate 6-O-sulfotransferase 2							5.0	6.0	5.0					X																	132092544		1746	3834	5580	SO:0001819	synonymous_variant	90161					integral to membrane	sulfotransferase activity	g.chrX:132092544G>A	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.87C>T	X.37:g.132092544G>A						HS6ST2_ENST00000521489.1_Silent_p.R29R	p.R29R	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN			2	502	-	Acute lymphoblastic leukemia(192;0.000127)		29					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	ENST00000370836.2	37	c.87C>T	CCDS48169.1																																																																																				0.711	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		12	13	0	0	0	1	0	12	13				
SLC25A25	114789	broad.mit.edu	37	9	130860955	130860955	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:130860955G>A	ENST00000373064.5	+	1	373	c.110G>A	c.(109-111)aGt>aAt	p.S37N	SLC25A25_ENST00000432073.2_Intron|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373066.5_Intron	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	37					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TTCAAGCTCAGTGTCTTCATC	0.582																																						ENST00000373064.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(109-111)aGt>aAt		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							128.0	118.0	121.0					9																	130860955		2203	4300	6503	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130860955G>A	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.110G>A	9.37:g.130860955G>A	ENSP00000362155:p.Ser37Asn					SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000432073.2_Intron|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373066.5_Intron	p.S37N	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN			1	373	+			37					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.110G>A	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736050	0.69189	.	.	ENSG00000148339	ENST00000373064	T	0.54866	0.55	5.37	5.37	0.77165	EF-hand-like domain (1);	.	.	.	.	T	0.40067	0.1102	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15292	-1.0442	9	0.21540	T	0.41	.	18.458	0.90728	0.0:0.0:1.0:0.0	.	37	Q6KCM7	SCMC2_HUMAN	N	37	ENSP00000362155:S37N	ENSP00000362155:S37N	S	+	2	0	SLC25A25	129900776	1.000000	0.71417	0.966000	0.40874	0.843000	0.47879	7.596000	0.82721	2.665000	0.90641	0.467000	0.42956	AGT		0.582	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		66	94	0	0	0	1	0	66	94				
SARDH	1757	broad.mit.edu	37	9	136595269	136595269	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:136595269G>A	ENST00000371872.4	-	5	988	c.731C>T	c.(730-732)aCg>aTg	p.T244M	SARDH_ENST00000371867.1_Missense_Mutation_p.T155M|SARDH_ENST00000422262.2_Missense_Mutation_p.T76M|SARDH_ENST00000298628.5_Missense_Mutation_p.T244M|SARDH_ENST00000439388.1_Missense_Mutation_p.T244M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	244					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AAAATCATCCGTCCACACACG	0.587																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(730-732)aCg>aTg		sarcosine dehydrogenase							93.0	87.0	89.0					9																	136595269		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136595269G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.731C>T	9.37:g.136595269G>A	ENSP00000360938:p.Thr244Met					SARDH_ENST00000439388.1_Missense_Mutation_p.T244M|SARDH_ENST00000298628.5_Missense_Mutation_p.T244M|SARDH_ENST00000371867.1_Missense_Mutation_p.T155M|SARDH_ENST00000422262.2_Missense_Mutation_p.T76M	p.T244M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	5	988	-			244					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.731C>T	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180608	0.78677	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	5.29	5.29	0.74685	FAD dependent oxidoreductase (1);	0.217568	0.47852	D	0.000216	D	0.85478	0.5706	L	0.50333	1.59	0.45554	D	0.998509	D	0.58970	0.984	P	0.57911	0.829	D	0.85637	0.1274	10	0.49607	T	0.09	-20.4417	18.929	0.92556	0.0:0.0:1.0:0.0	.	244	Q9UL12	SARDH_HUMAN	M	244;244;76;244;244;244;155;222;244	ENSP00000360938:T244M;ENSP00000403084:T244M;ENSP00000415537:T76M;ENSP00000360933:T155M;ENSP00000298628:T244M	ENSP00000298628:T244M	T	-	2	0	SARDH	135585090	0.880000	0.30214	0.941000	0.38009	0.899000	0.52679	3.575000	0.53870	2.463000	0.83235	0.591000	0.81541	ACG		0.587	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			33	55	0	0	0	1	0	33	55				
PASD1	139135	broad.mit.edu	37	X	150840935	150840935	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:150840935A>C	ENST00000370357.4	+	14	1963	c.1718A>C	c.(1717-1719)aAg>aCg	p.K573T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	573						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					cagccactgaagcaTAATGTC	0.522																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1717-1719)aAg>aCg		PAS domain containing 1							128.0	95.0	106.0					X																	150840935		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150840935A>C	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1718A>C	X.37:g.150840935A>C	ENSP00000359382:p.Lys573Thr						p.K573T	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			14	1963	+	Acute lymphoblastic leukemia(192;6.56e-05)		573					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1718A>C	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522970	0.27211	.	.	ENSG00000166049	ENST00000370357	T	0.19669	2.13	1.88	-0.819	0.10829	.	.	.	.	.	T	0.12561	0.0305	N	0.24115	0.695	0.09310	N	1	P	0.34977	0.478	B	0.38020	0.263	T	0.25676	-1.0125	9	0.66056	D	0.02	.	2.3355	0.04246	0.4959:0.3038:0.2003:0.0	.	573	Q8IV76	PASD1_HUMAN	T	573	ENSP00000359382:K573T	ENSP00000359382:K573T	K	+	2	0	PASD1	150591591	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.652000	0.05366	-0.271000	0.09272	-0.441000	0.05720	AAG		0.522	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		31	39	0	0	0	1	0	31	39				
L1CAM	3897	broad.mit.edu	37	X	153129471	153129471	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153129471G>A	ENST00000370060.1	-	26	3513	c.3324C>T	c.(3322-3324)ggC>ggT	p.G1108G	L1CAM_ENST00000361699.4_Splice_Site_p.G1108G|L1CAM_ENST00000538883.1_Splice_Site_p.G1110G|L1CAM_ENST00000370057.3_Splice_Site_p.G1108G|L1CAM_ENST00000361981.3_Splice_Site_p.G1103G|L1CAM_ENST00000543994.1_Splice_Site_p.G1110G|L1CAM_ENST00000370055.1_Splice_Site_p.G1103G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1108	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCACGCGGCCTGAGGGTG	0.637																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.e26-1		L1 cell adhesion molecule							50.0	43.0	45.0					X																	153129471		2203	4297	6500	SO:0001630	splice_region_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153129471G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3323-1C>T	X.37:g.153129471G>A						L1CAM_ENST00000543994.1_Splice_Site_p.G1110_splice|L1CAM_ENST00000538883.1_Splice_Site_p.G1110_splice|L1CAM_ENST00000361699.4_Splice_Site_p.G1108_splice|L1CAM_ENST00000370055.1_Splice_Site_p.G1103_splice|L1CAM_ENST00000370057.3_Splice_Site_p.G1108_splice|L1CAM_ENST00000361981.3_Splice_Site_p.G1103_splice	p.G1108_splice	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			26	3513	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1108			Fibronectin type-III 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Splice_Site	SNP	ENST00000370060.1	37	c.3322_splice	CCDS14733.1																																																																																				0.637	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	Silent	23	37	0	0	0	1	0	23	37				
KRT76	51350	broad.mit.edu	37	12	53162616	53162616	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:53162616A>T	ENST00000332411.2	-	9	1851	c.1798T>A	c.(1798-1800)Tcc>Acc	p.S600T		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	600	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAGAGCTGGAGCCCATTCCA	0.622																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1798-1800)Tcc>Acc		keratin 76							86.0	80.0	82.0					12																	53162616		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53162616A>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1798T>A	12.37:g.53162616A>T	ENSP00000330101:p.Ser600Thr						p.S600T	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			9	1851	-			600			Tail.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.1798T>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	A	8.868	0.948675	0.18356	.	.	ENSG00000185069	ENST00000332411	D	0.82433	-1.61	4.57	4.57	0.56435	.	1.061520	0.07450	N	0.898812	T	0.66896	0.2836	N	0.08118	0	0.19945	N	0.999948	P	0.37466	0.596	B	0.29077	0.098	T	0.56044	-0.8044	10	0.32370	T	0.25	.	11.9953	0.53198	1.0:0.0:0.0:0.0	.	600	Q01546	K22O_HUMAN	T	600	ENSP00000330101:S600T	ENSP00000330101:S600T	S	-	1	0	KRT76	51448883	0.000000	0.05858	0.727000	0.30756	0.271000	0.26615	0.413000	0.21148	1.843000	0.53566	0.460000	0.39030	TCC		0.622	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		25	47	0	0	0	1	0	25	47				
OR6V1	346517	broad.mit.edu	37	7	142749858	142749858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:142749858C>T	ENST00000418316.1	+	1	442	c.421C>T	c.(421-423)Cag>Tag	p.Q141*		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TATGTGTGTCCAGCTGGCTGG	0.587																																						ENST00000418316.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(421-423)Cag>Tag		olfactory receptor, family 6, subfamily V, member 1							71.0	78.0	76.0					7																	142749858		2139	4265	6404	SO:0001587	stop_gained	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749858C>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.421C>T	7.37:g.142749858C>T	ENSP00000396085:p.Gln141*						p.Q141*	NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN			1	442	+	Melanoma(164;0.059)		141					A4D2I0|B9EH48|Q6IF70	Nonsense_Mutation	SNP	ENST00000418316.1	37	c.421C>T	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681919	0.68042	.	.	ENSG00000225781	ENST00000418316	.	.	.	4.26	2.34	0.29019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	3.8277	0.08861	0.1985:0.6013:0.0:0.2002	.	.	.	.	X	141	.	ENSP00000396085:Q141X	Q	+	1	0	OR6V1	142459980	0.000000	0.05858	0.053000	0.19242	0.954000	0.61252	-1.366000	0.02585	0.965000	0.38133	0.655000	0.94253	CAG		0.587	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			6	90	0	0	0	1	0	6	90				
WFS1	7466	broad.mit.edu	37	4	6302765	6302765	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:6302765G>A	ENST00000226760.1	+	8	1413	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	WFS1_ENST00000503569.1_Missense_Mutation_p.V415I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	415			Missing (in WFS1; greatly reduces protein expression compared to wild-type). {ECO:0000269|PubMed:15605410, ECO:0000269|PubMed:21538838}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGTCTTCTTCGTCATCTTCTC	0.597																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21	GRCh37	CD993078	WFS1	D		c.(1243-1245)Gtc>Atc		Wolfram syndrome 1 (wolframin)							199.0	199.0	199.0					4																	6302765		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302765G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1243G>A	4.37:g.6302765G>A	ENSP00000226760:p.Val415Ile					WFS1_ENST00000503569.1_Missense_Mutation_p.V415I	p.V415I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1413	+			415		Missing (in WFS).			B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1243G>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	8.135	0.783898	0.16189	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.90563	-2.69;-2.69	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.88837	0.6545	M	0.73598	2.24	0.58432	D	0.999998	P	0.49358	0.923	B	0.39904	0.313	D	0.87651	0.2528	10	0.12766	T	0.61	-41.9359	16.7024	0.85357	0.0:0.0:1.0:0.0	.	415	O76024	WFS1_HUMAN	I	415	ENSP00000423337:V415I;ENSP00000226760:V415I	ENSP00000226760:V415I	V	+	1	0	WFS1	6353666	1.000000	0.71417	0.997000	0.53966	0.057000	0.15508	7.296000	0.78790	2.181000	0.69327	0.556000	0.70494	GTC		0.597	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			78	114	0	0	0	1	0	78	114				
ITGAX	3687	broad.mit.edu	37	16	31382762	31382762	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:31382762T>C	ENST00000268296.4	+	16	2070	c.1949T>C	c.(1948-1950)gTa>gCa	p.V650A	ITGAX_ENST00000562522.1_Missense_Mutation_p.V650A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	650					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGACCCTGGTACAGTCCAAC	0.582																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1948-1950)gTa>gCa		integrin, alpha X (complement component 3 receptor 4 subunit)							90.0	68.0	75.0					16																	31382762		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382762T>C	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1949T>C	16.37:g.31382762T>C	ENSP00000268296:p.Val650Ala					ITGAX_ENST00000562522.1_Missense_Mutation_p.V650A	p.V650A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			16	2070	+			650					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1949T>C	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	t	8.494	0.862729	0.17178	.	.	ENSG00000140678	ENST00000268296	T	0.50001	0.76	5.08	2.01	0.26516	Integrin alpha-2 (1);	.	.	.	.	T	0.20536	0.0494	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.18461	-1.0336	9	0.36615	T	0.2	.	6.4	0.21632	0.086:0.0:0.5904:0.3236	.	650	P20702	ITAX_HUMAN	A	650	ENSP00000268296:V650A	ENSP00000268296:V650A	V	+	2	0	ITGAX	31290263	0.238000	0.23825	0.001000	0.08648	0.000000	0.00434	0.786000	0.26844	0.245000	0.21373	-0.784000	0.03344	GTA		0.582	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		41	38	0	0	0	1	0	41	38				
TRIM62	55223	broad.mit.edu	37	1	33625365	33625365	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:33625365C>A	ENST00000291416.5	-	3	918	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Missense_Mutation_p.A108S	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	229					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGGATCTGGGCTCCCTCCTGG	0.677																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(685-687)Gcc>Tcc		tripartite motif containing 62							55.0	56.0	55.0					1																	33625365		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33625365C>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.685G>T	1.37:g.33625365C>A	ENSP00000291416:p.Ala229Ser					TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Missense_Mutation_p.A108S	p.A229S	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			3	918	-		Myeloproliferative disorder(586;0.0393)	229					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.685G>T	CCDS376.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910318	0.52439	.	.	ENSG00000116525	ENST00000291416;ENST00000373432;ENST00000373430;ENST00000543586	T;T	0.39787	1.06;1.06	4.76	1.31	0.21738	.	0.307695	0.31188	N	0.008094	T	0.19248	0.0462	N	0.08118	0	0.26215	N	0.979246	B	0.23937	0.094	B	0.14023	0.01	T	0.13926	-1.0491	10	0.45353	T	0.12	.	7.3969	0.26942	0.0:0.6452:0.0:0.3548	.	229	Q9BVG3	TRI62_HUMAN	S	229;229;229;108	ENSP00000291416:A229S;ENSP00000441173:A108S	ENSP00000291416:A229S	A	-	1	0	TRIM62	33397952	1.000000	0.71417	0.731000	0.30826	0.978000	0.69477	2.784000	0.47774	0.544000	0.28883	-0.140000	0.14226	GCC		0.677	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		42	55	1	0	3.61848e-18	1	3.95686e-18	42	55				
LUZP4	51213	broad.mit.edu	37	X	114536597	114536597	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:114536597T>C	ENST00000371920.3	+	2	139	c.132T>C	c.(130-132)gcT>gcC	p.A44A	LUZP4_ENST00000451986.2_Missense_Mutation_p.L2P	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	44						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GGACAAATGCTGAAGAAGAAA	0.333																																						ENST00000451986.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(4-6)cTg>cCg		leucine zipper protein 4							117.0	110.0	112.0					X																	114536597		2203	4300	6503	SO:0001819	synonymous_variant	51213					nucleus		g.chrX:114536597T>C	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.132T>C	X.37:g.114536597T>C						LUZP4_ENST00000371920.3_Silent_p.A44A	p.L2P			Q9P127	LUZP4_HUMAN			2	165	+			0					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.5T>C	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	T	2.264	-0.368486	0.05069	.	.	ENSG00000102021	ENST00000451986	T	0.58210	0.35	2.73	1.51	0.23008	.	.	.	.	.	T	0.63058	0.2479	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.66351	0.943	T	0.50482	-0.8823	8	0.87932	D	0	.	4.5125	0.11919	0.2933:0.0:0.0:0.7066	.	2	B3KSD6	.	P	2	ENSP00000411212:L2P	ENSP00000411212:L2P	L	+	2	0	LUZP4	114442853	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.284000	0.18864	0.327000	0.23409	0.356000	0.21956	CTG		0.333	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		52	94	0	0	0	1	0	52	94				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	31	0	0	0	1	0	5	31				
TBC1D12	23232	broad.mit.edu	37	10	96162514	96162514	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:96162514G>A	ENST00000225235.4	+	1	254	c.144G>A	c.(142-144)ccG>ccA	p.P48P		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	48							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CTGTGGAGCCGCCggaggagg	0.726																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(142-144)ccG>ccA		TBC1 domain family, member 12							5.0	8.0	7.0					10																	96162514		1796	3811	5607	SO:0001819	synonymous_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96162514G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.144G>A	10.37:g.96162514G>A							p.P48P	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			1	254	+		Colorectal(252;0.0429)	48					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	c.144G>A	CCDS41553.1																																																																																				0.726	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			4	9	0	0	0	1	0	4	9				
RUSC2	9853	broad.mit.edu	37	9	35555086	35555086	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:35555086C>T	ENST00000455600.1	+	3	2613	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	682						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACCAGTCCTTCGCTACAGCAA	0.577																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2044-2046)Cgc>Tgc		RUN and SH3 domain containing 2							90.0	90.0	90.0					9																	35555086		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35555086C>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2044C>T	9.37:g.35555086C>T	ENSP00000393922:p.Arg682Cys						p.R682C	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2613	+			682					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2044C>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539488	0.85917	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.45276	0.9;0.9	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	T	0.54873	-0.8228	10	0.87932	D	0	-9.8984	16.9888	0.86348	0.0:1.0:0.0:0.0	.	682	Q8N2Y8	RUSC2_HUMAN	C	682	ENSP00000355177:R682C;ENSP00000393922:R682C	ENSP00000355177:R682C	R	+	1	0	RUSC2	35545086	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.246000	0.65411	2.317000	0.78254	0.563000	0.77884	CGC		0.577	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		71	91	0	0	0	1	0	71	91				
MTSS1L	92154	broad.mit.edu	37	16	70698625	70698625	+	Missense_Mutation	SNP	C	C	A	rs139508787		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:70698625C>A	ENST00000338779.6	-	14	1621	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	FLJ00418_ENST00000597002.1_De_novo_Start_InFrame	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	449					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GCGTCAGCACCATGGCCAGGT	0.667																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(1345-1347)atG>atT		metastasis suppressor 1-like							37.0	32.0	34.0					16																	70698625		2198	4300	6498	SO:0001583	missense	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70698625C>A		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1347G>T	16.37:g.70698625C>A	ENSP00000341171:p.Met449Ile					FLJ00418_ENST00000597002.1_De_novo_Start_InFrame	p.M449I	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			14	1621	-			449					A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	c.1347G>T	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789899	0.50102	.	.	ENSG00000132613	ENST00000338779	T	0.31247	1.5	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	M	0.63428	1.95	0.53005	D	0.999963	B	0.22909	0.077	B	0.23150	0.044	T	0.12218	-1.0556	10	0.21014	T	0.42	-30.4334	17.6541	0.88173	0.0:1.0:0.0:0.0	.	449	Q765P7	MTSSL_HUMAN	I	449	ENSP00000341171:M449I	ENSP00000341171:M449I	M	-	3	0	MTSS1L	69256126	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	6.061000	0.71148	2.245000	0.73994	0.462000	0.41574	ATG		0.667	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		10	19	1	0	6.40141e-05	1	6.54317e-05	10	19				
LCE1B	353132	broad.mit.edu	37	1	152784988	152784988	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152784988C>A	ENST00000360090.3	+	1	542	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	22	Pro-rich.				keratinization (GO:0031424)					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agtgccctcccaagtgccTCA	0.617																																						ENST00000360090.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18						c.(64-66)ccC>ccA		late cornified envelope 1B							97.0	97.0	97.0					1																	152784988		2203	4300	6503	SO:0001819	synonymous_variant	353132				keratinization			g.chr1:152784988C>A	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.66C>A	1.37:g.152784988C>A							p.P22P	NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	542	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		22			Pro-rich.		A4IF40	Silent	SNP	ENST00000360090.3	37	c.66C>A	CCDS1027.1																																																																																				0.617	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		47	76	1	0	4.10826e-27	1	4.59559e-27	47	76				
TCF4	6925	broad.mit.edu	37	18	52896149	52896149	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:52896149T>G	ENST00000356073.4	-	18	2407	c.1796A>C	c.(1795-1797)aAg>aCg	p.K599T	TCF4_ENST00000537856.3_Missense_Mutation_p.K469T|TCF4_ENST00000566286.1_Missense_Mutation_p.K596T|TCF4_ENST00000398339.1_Missense_Mutation_p.K705T|TCF4_ENST00000566279.1_Missense_Mutation_p.K543T|TCF4_ENST00000561831.3_Missense_Mutation_p.K439T|TCF4_ENST00000540999.1_Missense_Mutation_p.K575T|TCF4_ENST00000354452.3_Missense_Mutation_p.K603T|TCF4_ENST00000570177.2_Missense_Mutation_p.K469T|TCF4_ENST00000543082.1_Missense_Mutation_p.K557T|TCF4_ENST00000544241.2_Missense_Mutation_p.K532T|TCF4_ENST00000568740.1_Missense_Mutation_p.K574T|TCF4_ENST00000457482.3_Missense_Mutation_p.K443T|TCF4_ENST00000568673.1_Missense_Mutation_p.K579T|TCF4_ENST00000565018.2_Missense_Mutation_p.K603T|TCF4_ENST00000570287.2_Missense_Mutation_p.K439T|TCF4_ENST00000567880.1_Missense_Mutation_p.K539T|TCF4_ENST00000564403.2_Missense_Mutation_p.K609T|TCF4_ENST00000561992.1_Missense_Mutation_p.K469T|TCF4_ENST00000564999.1_Missense_Mutation_p.K599T|TCF4_ENST00000564228.1_Missense_Mutation_p.K528T|TCF4_ENST00000537578.1_Missense_Mutation_p.K579T	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	599	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGTCTGGGGCTTGTCACTCTT	0.617																																						ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1807-1809)aAg>aCg		transcription factor 4							104.0	90.0	95.0					18																	52896149		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52896149T>G	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1796A>C	18.37:g.52896149T>G	ENSP00000348374:p.Lys599Thr					TCF4_ENST00000561992.1_Missense_Mutation_p.K469T|TCF4_ENST00000561831.3_Missense_Mutation_p.K439T|TCF4_ENST00000398339.1_Missense_Mutation_p.K705T|TCF4_ENST00000537578.1_Missense_Mutation_p.K579T|TCF4_ENST00000565018.2_Missense_Mutation_p.K603T|TCF4_ENST00000540999.1_Missense_Mutation_p.K575T|TCF4_ENST00000566279.1_Missense_Mutation_p.K543T|TCF4_ENST00000537856.3_Missense_Mutation_p.K469T|TCF4_ENST00000457482.3_Missense_Mutation_p.K443T|TCF4_ENST00000567880.1_Missense_Mutation_p.K539T|TCF4_ENST00000564228.1_Missense_Mutation_p.K528T|TCF4_ENST00000568673.1_Missense_Mutation_p.K579T|TCF4_ENST00000568740.1_Missense_Mutation_p.K574T|TCF4_ENST00000356073.4_Missense_Mutation_p.K599T|TCF4_ENST00000570287.2_Missense_Mutation_p.K439T|TCF4_ENST00000564403.2_Missense_Mutation_p.K609T|TCF4_ENST00000570177.2_Missense_Mutation_p.K469T|TCF4_ENST00000544241.2_Missense_Mutation_p.K532T|TCF4_ENST00000564999.1_Missense_Mutation_p.K599T|TCF4_ENST00000566286.1_Missense_Mutation_p.K596T|TCF4_ENST00000543082.1_Missense_Mutation_p.K557T	p.K603T	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	18	2419	-			599			Helix-loop-helix motif.		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1808A>C	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.543536	0.86022	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	D;D;D;D;D;D;D;D;D	0.99232	-5.6;-5.6;-5.6;-5.6;-5.6;-5.6;-5.6;-5.6;-5.6	5.79	4.62	0.57501	Helix-loop-helix DNA-binding (5);	0.045522	0.85682	D	0.000000	D	0.99306	0.9757	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.995;0.97;0.987;0.991;0.998;0.998;0.989;0.998	D;D;D;D;D;D;D;D;D	0.83275	0.996;0.969;0.913;0.932;0.982;0.986;0.991;0.969;0.969	D	0.99338	1.0911	10	0.87932	D	0	-9.9618	10.7977	0.46470	0.0:0.0754:0.0:0.9246	.	579;603;439;705;599;557;532;443;596	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	T	603;443;599;557;575;579;532;469;705	ENSP00000346440:K603T;ENSP00000409447:K443T;ENSP00000348374:K599T;ENSP00000439656:K557T;ENSP00000445202:K575T;ENSP00000440731:K579T;ENSP00000441562:K532T;ENSP00000439827:K469T;ENSP00000381382:K705T	ENSP00000346440:K603T	K	-	2	0	TCF4	51047147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	1.019000	0.39547	0.460000	0.39030	AAG		0.617	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		35	63	0	0	0	1	0	35	63				
ZFAND2B	130617	broad.mit.edu	37	2	220073024	220073024	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:220073024G>A	ENST00000289528.5	+	5	676	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409594.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.V161I	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	161						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACAAGCACTGTCCCCAGCCC	0.547																																						ENST00000409594.1																			0				endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11						c.(481-483)Gtc>Atc		zinc finger, AN1-type domain 2B							103.0	82.0	89.0					2																	220073024		2203	4300	6503	SO:0001583	missense	130617					endoplasmic reticulum	protein binding|zinc ion binding	g.chr2:220073024G>A	AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"""Zinc fingers, AN1-type domain containing"""	25206	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein-like"""	613474	"""zinc finger, AN1-type 2B"""			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.481G>A	2.37:g.220073024G>A	ENSP00000289528:p.Val161Ile					ZFAND2B_ENST00000409206.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V161I	p.V161I			Q8WV99	ZFN2B_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	676	+		Renal(207;0.0915)	161					Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	37	c.481G>A	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	G	4.693	0.128887	0.08981	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000444522	T;T;T;T;T;T;T;T	0.43688	0.96;0.96;0.98;0.95;0.94;0.98;0.97;0.94	5.18	-5.32	0.02722	.	1.892250	0.02108	N	0.054503	T	0.26304	0.0642	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.18053	-1.0349	10	0.29301	T	0.29	-16.0718	16.333	0.83050	0.1619:0.0:0.8381:0.0	.	52;161;161	B3KQB0;Q8WV99;B4DEN4	.;ZFN2B_HUMAN;.	I	161	ENSP00000386824:V161I;ENSP00000386399:V161I;ENSP00000289528:V161I;ENSP00000409931:V161I;ENSP00000387179:V161I;ENSP00000386898:V161I;ENSP00000386370:V161I;ENSP00000411334:V161I	ENSP00000289528:V161I	V	+	1	0	ZFAND2B	219781268	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.419000	0.07071	-1.123000	0.02940	-0.290000	0.09829	GTC		0.547	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		22	21	0	0	0	1	0	22	21				
ATRX	546	broad.mit.edu	37	X	76889125	76889125	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:76889125T>C	ENST00000373344.5	-	18	5099	c.4885A>G	c.(4885-4887)Aat>Gat	p.N1629D	ATRX_ENST00000395603.3_Missense_Mutation_p.N1591D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1629	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAAGCAGTATTAAGAGGACAA	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4885-4887)Aat>Gat		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						48.0	45.0	46.0					X																	76889125		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76889125T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4885A>G	X.37:g.76889125T>C	ENSP00000362441:p.Asn1629Asp					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1591D	p.N1629D	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			18	5099	-			1629			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4885A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.830111	0.71258	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92965	-3.14;-3.14	5.76	5.76	0.90799	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96688	0.8919	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.986;0.998	D	0.97362	0.9970	10	0.72032	D	0.01	-18.0699	14.9947	0.71421	0.0:0.0:0.0:1.0	.	1591;1629	P46100-4;P46100	.;ATRX_HUMAN	D	1629;1591	ENSP00000362441:N1629D;ENSP00000378967:N1591D	ENSP00000362441:N1629D	N	-	1	0	ATRX	76775781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	1.924000	0.55735	0.481000	0.45027	AAT		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		26	41	0	0	0	1	0	26	41				
KIAA1644	85352	broad.mit.edu	37	22	44681537	44681537	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:44681537T>C	ENST00000381176.4	-	4	502	c.370A>G	c.(370-372)Aac>Gac	p.N124D		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	124						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ATGTCGTAGTTCATTGCCGAG	0.557																																						ENST00000381176.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(370-372)Aac>Gac		KIAA1644							176.0	171.0	173.0					22																	44681537		2047	4209	6256	SO:0001583	missense	85352					integral to membrane		g.chr22:44681537T>C	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.370A>G	22.37:g.44681537T>C	ENSP00000370568:p.Asn124Asp						p.N124D	NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN			4	502	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	124					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.370A>G	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.757220	0.89843	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	L	0.32530	0.975	0.38678	D	0.952464	D	0.76494	0.999	D	0.83275	0.996	T	0.70483	-0.4859	8	0.56958	D	0.05	-28.6518	12.5508	0.56225	0.0:0.0:0.0:1.0	.	124	Q3SXP7	K1644_HUMAN	D	124	.	ENSP00000370568:N124D	N	-	1	0	KIAA1644	43012870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.135000	0.77276	1.900000	0.55004	0.459000	0.35465	AAC		0.557	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		26	266	0	0	0	1	0	26	266				
KMT2D	8085	broad.mit.edu	37	12	49421827	49421827	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49421827C>T	ENST00000301067.7	-	46	14479	c.14480G>A	c.(14479-14481)gGc>gAc	p.G4827D		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4827					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGCTCAGTGCCTGCCCGGGC	0.607																																						ENST00000301067.7																			0											c.(14479-14481)gGc>gAc		lysine (K)-specific methyltransferase 2D							49.0	55.0	53.0					12																	49421827		2026	4176	6202	SO:0001583	missense	8085							g.chr12:49421827C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14480G>A	12.37:g.49421827C>T	ENSP00000301067:p.Gly4827Asp						p.G4827D	NM_003482.3	NP_003473.3					46	14479	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.14480G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151630	0.21371	.	.	ENSG00000167548	ENST00000301067	T	0.79940	-1.32	5.04	4.15	0.48705	.	0.392221	0.18930	N	0.127251	T	0.70824	0.3268	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.64002	-0.6509	10	0.87932	D	0	.	8.4935	0.33115	0.1526:0.7648:0.0:0.0825	.	4827	O14686	MLL2_HUMAN	D	4827	ENSP00000301067:G4827D	ENSP00000301067:G4827D	G	-	2	0	MLL2	47708094	0.391000	0.25221	0.970000	0.41538	0.827000	0.46813	2.440000	0.44855	1.276000	0.44395	-0.258000	0.10820	GGC		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			21	27	0	0	0	1	0	21	27				
MC1R	4157	broad.mit.edu	37	16	89985820	89985820	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:89985820A>G	ENST00000555147.1	+	1	1534	c.154A>G	c.(154-156)Agc>Ggc	p.S52G	RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000554444.1_5'Flank|TUBB3_ENST00000556922.1_Missense_Mutation_p.S52G|MC1R_ENST00000555427.1_Missense_Mutation_p.S52G|RP11-566K11.4_ENST00000554623.1_RNA	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	52					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGGGCTGGTGAGCTTGGTGGA	0.642									Melanoma, Familial Clustering of																													ENST00000555427.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(154-156)Agc>Ggc		melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)							50.0	60.0	56.0					16																	89985820		2092	4221	6313	SO:0001583	missense	4157	Melanoma, Familial Clustering of	Familial Cancer Database					g.chr16:89985820A>G		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.154A>G	16.37:g.89985820A>G	ENSP00000451605:p.Ser52Gly					MC1R_ENST00000555147.1_Missense_Mutation_p.S52G|TUBB3_ENST00000556922.1_Missense_Mutation_p.S52G	p.S52G						BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2457	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)						Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	c.154A>G	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912215	0.72983	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.27557	1.66;1.66;1.66	4.86	4.86	0.63082	.	0.000000	0.45361	U	0.000372	T	0.45637	0.1352	M	0.92026	3.265	0.52501	D	0.999959	P	0.36647	0.563	B	0.38264	0.269	T	0.54925	-0.8220	9	.	.	.	.	13.6337	0.62210	1.0:0.0:0.0:0.0	.	52	Q01726	MSHR_HUMAN	G	52	ENSP00000451760:S52G;ENSP00000451560:S52G;ENSP00000451605:S52G	.	S	+	1	0	MC1R;RP11-566K11.2	88513321	1.000000	0.71417	0.999000	0.59377	0.536000	0.34869	8.858000	0.92256	1.829000	0.53265	0.374000	0.22700	AGC		0.642	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		50	71	0	0	0	1	0	50	71				
P2RY12	64805	broad.mit.edu	37	3	151056503	151056503	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:151056503C>T	ENST00000302632.3	-	3	430	c.131G>A	c.(130-132)gGc>gAc	p.G44D	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	44					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CATCGCCAGGCCATTTGTGAT	0.403																																						ENST00000302632.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(130-132)gGc>gAc		purinergic receptor P2Y, G-protein coupled, 12	Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)						62.0	64.0	63.0					3																	151056503		2203	4300	6503	SO:0001583	missense	0				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr3:151056503C>T	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.131G>A	3.37:g.151056503C>T	ENSP00000307259:p.Gly44Asp					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	p.G44D	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	430	-			44					D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	c.131G>A	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711091	0.48517	.	.	ENSG00000169313	ENST00000302632;ENST00000455408	T	0.20738	2.05	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.325971	0.37053	N	0.002276	T	0.44414	0.1292	M	0.64170	1.965	0.31617	N	0.650703	B;P	0.37158	0.331;0.585	B;P	0.55455	0.182;0.776	T	0.45352	-0.9267	10	0.51188	T	0.08	-12.5714	19.0551	0.93059	0.0:1.0:0.0:0.0	.	44;44	A8K7T1;Q9H244	.;P2Y12_HUMAN	D	44	ENSP00000307259:G44D	ENSP00000307259:G44D	G	-	2	0	P2RY12	152539193	1.000000	0.71417	0.998000	0.56505	0.859000	0.49053	2.525000	0.45598	2.571000	0.86741	0.650000	0.86243	GGC		0.403	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			19	36	0	0	0	1	0	19	36				
NELFA	7469	broad.mit.edu	37	4	1988038	1988038	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1988038C>T	ENST00000411638.2	-	5	741	c.726G>A	c.(724-726)ccG>ccA	p.P242P	NELFA_ENST00000542778.1_Silent_p.P107P|MIR943_ENST00000401286.1_RNA|NELFA_ENST00000382882.3_Silent_p.P253P	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	242	HDAg-like.				gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										TCCTGGAAGGCGGGATGGGGG	0.697																																						ENST00000382882.3																			0											c.(757-759)ccG>ccA		negative elongation factor complex member A							22.0	23.0	23.0					4																	1988038		2187	4292	6479	SO:0001819	synonymous_variant	7469							g.chr4:1988038C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.726G>A	4.37:g.1988038C>T						NELFA_ENST00000542778.1_Silent_p.P107P|NELFA_ENST00000411638.1_Silent_p.P242P	p.P253P	NM_005663.4	NP_005654.3					5	1876	-								A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.759G>A		.	.	.	.	.	.	.	.	.	.	C	3.300	-0.143043	0.06669	.	.	ENSG00000185049	ENST00000453740	.	.	.	4.76	-8.3	0.01005	.	.	.	.	.	T	0.36276	0.0961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43081	-0.9413	4	.	.	.	-28.1449	3.6934	0.08354	0.0833:0.2027:0.2736:0.4404	.	.	.	.	H	143	.	.	R	-	2	0	WHSC2	1957836	0.000000	0.05858	0.276000	0.24689	0.246000	0.25737	-2.213000	0.01224	-1.367000	0.02152	-0.379000	0.06801	CGC		0.697	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		10	7	0	0	0	1	0	10	7				
CNTNAP4	85445	broad.mit.edu	37	16	76528916	76528916	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:76528916C>T	ENST00000476707.1	+	13	2338	c.2199C>T	c.(2197-2199)tgC>tgT	p.C733C	CNTNAP4_ENST00000377504.4_Silent_p.C681C|CNTNAP4_ENST00000478060.1_Silent_p.C657C|CNTNAP4_ENST00000307431.8_Silent_p.C729C|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	730	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGGGAAACTGCATTGATTCTC	0.378																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2185-2187)tgC>tgT		contactin associated protein-like 4							176.0	170.0	172.0					16																	76528916		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76528916C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2199C>T	16.37:g.76528916C>T						CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.C733C|CNTNAP4_ENST00000478060.1_Silent_p.C657C|CNTNAP4_ENST00000377504.4_Silent_p.C681C	p.C729C	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			15	2572	+			730			Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2187C>T																																																																																					0.378	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		49	85	0	0	0	1	0	49	85				
PCDHA6	56142	broad.mit.edu	37	5	140208727	140208727	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140208727G>A	ENST00000529310.1	+	1	1165	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A351T	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	351	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGAGATAGCACTGACTTC	0.488																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1051-1053)Gca>Aca									84.0	84.0	84.0					5																	140208727		2202	4280	6482	SO:0001583	missense	0							g.chr5:140208727G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1051G>A	5.37:g.140208727G>A	ENSP00000433378:p.Ala351Thr					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A351T|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.A351T	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1165	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1051G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.472046	0.00011	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01838	4.61;4.61	3.7	-5.66	0.02451	Cadherin (2);Cadherin-like (1);	0.435241	0.16639	N	0.205740	T	0.00440	0.0014	N	0.00175	-1.925	0.09310	N	1	B;B;B	0.12630	0.0;0.0;0.006	B;B;B	0.12156	0.002;0.001;0.007	T	0.20273	-1.0280	10	0.02654	T	1	.	5.6229	0.17467	0.3281:0.0:0.3146:0.3573	.	351;351;351	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	351	ENSP00000433378:A351T;ENSP00000434113:A351T	ENSP00000434113:A351T	A	+	1	0	PCDHA6	140188911	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-3.560000	0.00431	-2.186000	0.00760	-1.786000	0.00637	GCA		0.488	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		91	80	0	0	0	1	0	91	80				
PLEKHA8P1	51054	broad.mit.edu	37	12	45568424	45568424	+	RNA	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:45568424C>A	ENST00000256692.5	-	0	261					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GACAATATTCCCCTACAGAGA	0.488																																						ENST00000256692.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26																																														0							g.chr12:45568424C>A	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568424C>A								NR_037144.1						0	261	-									RNA	SNP	ENST00000256692.5	37																																																																																						0.488	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		23	22	1	0	1.85244e-09	1	1.95734e-09	23	22				
SLC28A3	64078	broad.mit.edu	37	9	86900965	86900965	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:86900965C>T	ENST00000376238.4	-	13	1391	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	SLC28A3_ENST00000537648.1_Missense_Mutation_p.A379T|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	448					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GCGATGTTGGCCACCAGGGAG	0.473																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1342-1344)Gcc>Acc		solute carrier family 28 (concentrative nucleoside transporter), member 3							94.0	84.0	88.0					9																	86900965		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86900965C>T	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1342G>A	9.37:g.86900965C>T	ENSP00000365413:p.Ala448Thr					SLC28A3_ENST00000537648.1_Missense_Mutation_p.A379T|RP11-380F14.2_ENST00000419815.1_RNA	p.A448T	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			13	1391	-			448					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.1342G>A	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455089	0.84209	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.06687	3.27;3.27	5.88	5.88	0.94601	Na dependent nucleoside transporter, C-terminal (1);	0.105247	0.64402	D	0.000004	T	0.24928	0.0605	M	0.86097	2.795	0.80722	D	1	B	0.31318	0.319	B	0.41691	0.364	T	0.01175	-1.1428	10	0.40728	T	0.16	-17.8427	20.2405	0.98372	0.0:1.0:0.0:0.0	.	448	Q9HAS3	S28A3_HUMAN	T	448;379	ENSP00000365413:A448T;ENSP00000446438:A379T	ENSP00000365413:A448T	A	-	1	0	SLC28A3	86090785	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	7.786000	0.85741	2.797000	0.96272	0.561000	0.74099	GCC		0.473	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		16	19	0	0	0	1	0	16	19				
SLC12A4	6560	broad.mit.edu	37	16	67985067	67985067	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67985067C>T	ENST00000316341.3	-	9	1413	c.1273G>A	c.(1273-1275)Ggc>Agc	p.G425S	SLC12A4_ENST00000541864.2_Missense_Mutation_p.G394S|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G425S|SLC12A4_ENST00000422611.2_Missense_Mutation_p.G427S|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G377S|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G419S|SLC12A4_ENST00000338335.3_Missense_Mutation_p.G425S	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	425					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGAAGATGCCGACCAGCACG	0.622																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(1279-1281)Ggc>Agc		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						173.0	151.0	158.0					16																	67985067		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67985067C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1273G>A	16.37:g.67985067C>T	ENSP00000318557:p.Gly425Ser					SLC12A4_ENST00000576616.1_Missense_Mutation_p.G425S|SLC12A4_ENST00000338335.3_Missense_Mutation_p.G425S|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G394S|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G419S|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G377S|SLC12A4_ENST00000316341.3_Missense_Mutation_p.G425S	p.G427S	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	8	1318	-		Ovarian(137;0.192)	425					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.1279G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289302	0.95517	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98	5.11	5.11	0.69529	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	L	0.60904	1.88	0.80722	D	1	P;D;D;D;D;D	0.89917	0.931;0.998;1.0;0.994;0.994;0.995	P;D;D;P;P;P	0.97110	0.638;0.925;1.0;0.823;0.823;0.889	D	0.99891	1.1135	10	0.72032	D	0.01	.	18.8996	0.92437	0.0:1.0:0.0:0.0	.	427;425;394;419;425;425	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	S	427;394;419;425;425	ENSP00000395983:G427S;ENSP00000438334:G394S;ENSP00000445962:G419S;ENSP00000343374:G425S;ENSP00000318557:G425S	ENSP00000318557:G425S	G	-	1	0	SLC12A4	66542568	1.000000	0.71417	0.986000	0.45419	0.903000	0.53119	6.035000	0.70940	2.541000	0.85698	0.561000	0.74099	GGC		0.622	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		72	108	0	0	0	1	0	72	108				
TMEM106A	113277	broad.mit.edu	37	17	41369782	41369782	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:41369782G>A	ENST00000331615.3	+	9	988	c.751G>A	c.(751-753)Gca>Aca	p.A251T	LINC00854_ENST00000593624.1_RNA|TMEM106A_ENST00000536052.1_Missense_Mutation_p.A204T|TMEM106A_ENST00000588659.1_Missense_Mutation_p.A251T|LINC00854_ENST00000595400.1_RNA|LINC00854_ENST00000427995.1_RNA|TMEM106A_ENST00000541594.1_Missense_Mutation_p.A203T	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	251						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		CCGAGGAAACGCATCTGTGCC	0.577																																						ENST00000331615.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(751-753)Gca>Aca		transmembrane protein 106A							235.0	210.0	218.0					17																	41369782		2203	4296	6499	SO:0001583	missense	113277					integral to membrane		g.chr17:41369782G>A	AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.751G>A	17.37:g.41369782G>A	ENSP00000330774:p.Ala251Thr					TMEM106A_ENST00000536052.1_Missense_Mutation_p.A204T|TMEM106A_ENST00000541594.1_Missense_Mutation_p.A203T|TMEM106A_ENST00000588659.1_Missense_Mutation_p.A251T|LINC00854_ENST00000427995.1_RNA	p.A251T	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	9	988	+		Breast(137;0.0164)	251					A8K2X2|B7Z698	Missense_Mutation	SNP	ENST00000331615.3	37	c.751G>A	CCDS11462.1	.	.	.	.	.	.	.	.	.	.	G	2.756	-0.258914	0.05791	.	.	ENSG00000184988	ENST00000331615;ENST00000536052;ENST00000541594	T;T;T	0.18810	2.19;2.19;2.19	5.09	-4.74	0.03249	.	0.880759	0.09940	N	0.736024	T	0.04227	0.0117	N	0.01235	-0.94	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.31280	-0.9949	10	0.02654	T	1	-19.6005	4.397	0.11367	0.2474:0.0:0.3409:0.4116	.	204;203;251	B7Z779;B7Z698;Q96A25	.;.;T106A_HUMAN	T	251;204;203	ENSP00000330774:A251T;ENSP00000439835:A204T;ENSP00000439844:A203T	ENSP00000330774:A251T	A	+	1	0	TMEM106A	38725308	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.057000	0.11768	-1.290000	0.02372	-0.302000	0.09304	GCA		0.577	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041		127	183	0	0	0	1	0	127	183				
SLC15A3	51296	broad.mit.edu	37	11	60718781	60718781	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:60718781G>A	ENST00000227880.3	-	1	476	c.243C>T	c.(241-243)ggC>ggT	p.G81G		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	81					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GGTAGGAGGCGCCCAGGAATA	0.701																																						ENST00000227880.3																			0				central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						c.(241-243)ggC>ggT		solute carrier family 15 (oligopeptide transporter), member 3							6.0	4.0	5.0					11																	60718781		1829	3713	5542	SO:0001819	synonymous_variant	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60718781G>A	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.243C>T	11.37:g.60718781G>A							p.G81G	NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN			1	476	-			81					Q9P2X9	Silent	SNP	ENST00000227880.3	37	c.243C>T	CCDS7998.1																																																																																				0.701	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		4	3	0	0	0	1	0	4	3				
HBS1L	10767	broad.mit.edu	37	6	135287507	135287507	+	Missense_Mutation	SNP	C	C	G	rs370235823		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:135287507C>G	ENST00000367837.5	-	17	2209	c.2003G>C	c.(2002-2004)cGt>cCt	p.R668P	HBS1L_ENST00000527578.1_Missense_Mutation_p.R504P|HBS1L_ENST00000367826.2_Missense_Mutation_p.R626P|HBS1L_ENST00000445176.2_Missense_Mutation_p.R392P|HBS1L_ENST00000367824.4_Missense_Mutation_p.R504P|HBS1L_ENST00000415177.2_Missense_Mutation_p.R603P	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	668					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)	p.R668P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ACCACCGTAACGTAGCATGAA	0.378																																						ENST00000367837.5																			1	Substitution - Missense(1)	p.R668P(1)	upper_aerodigestive_tract(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(2002-2004)cGt>cCt		HBS1-like (S. cerevisiae)							151.0	141.0	144.0					6																	135287507		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135287507C>G	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.2003G>C	6.37:g.135287507C>G	ENSP00000356811:p.Arg668Pro					HBS1L_ENST00000367826.2_Missense_Mutation_p.R626P|HBS1L_ENST00000415177.2_Missense_Mutation_p.R603P|HBS1L_ENST00000527578.1_Missense_Mutation_p.R504P|HBS1L_ENST00000367824.4_Missense_Mutation_p.R504P|HBS1L_ENST00000445176.2_Missense_Mutation_p.R392P	p.R668P	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	17	2209	-	Colorectal(23;0.221)		668					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.2003G>C	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900437	0.92035	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.72505	-0.63;-0.57;-0.56;-0.66;-0.57;-0.62;0.52	5.83	5.83	0.93111	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90266	0.6956	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93087	0.6496	10	0.87932	D	0	-11.2644	20.1162	0.97934	0.0:1.0:0.0:0.0	.	626;668	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	P	668;504;603;626;504;538;392	ENSP00000356811:R668P;ENSP00000436256:R504P;ENSP00000389826:R603P;ENSP00000356800:R626P;ENSP00000356798:R504P;ENSP00000434533:R538P;ENSP00000415305:R392P	ENSP00000356798:R504P	R	-	2	0	HBS1L	135329200	1.000000	0.71417	0.962000	0.40283	0.857000	0.48899	7.265000	0.78442	2.757000	0.94681	0.563000	0.77884	CGT		0.378	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			45	126	0	0	0	1	0	45	126				
SLC39A1	27173	broad.mit.edu	37	1	153932984	153932984	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:153932984G>T	ENST00000368623.3	-	3	1324	c.565C>A	c.(565-567)Ctc>Atc	p.L189I	CRTC2_ENST00000368630.3_5'Flank|SLC39A1_ENST00000537590.1_Missense_Mutation_p.L87I|CRTC2_ENST00000476883.1_5'Flank|SLC39A1_ENST00000356205.4_Missense_Mutation_p.L189I|CRTC2_ENST00000368633.1_5'Flank|SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000310483.6_Missense_Mutation_p.L189I|SLC39A1_ENST00000368621.1_Missense_Mutation_p.L189I			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	189					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		ACGGAGTGGAGGGCCAGGGAG	0.677																																						ENST00000368623.3																			0				kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(565-567)Ctc>Atc		solute carrier family 39 (zinc transporter), member 1							45.0	44.0	45.0					1																	153932984		2203	4300	6503	SO:0001583	missense	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153932984G>T	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.565C>A	1.37:g.153932984G>T	ENSP00000357612:p.Leu189Ile					SLC39A1_ENST00000537590.1_Missense_Mutation_p.L87I|SLC39A1_ENST00000356205.4_Missense_Mutation_p.L189I|SLC39A1_ENST00000368621.1_Missense_Mutation_p.L189I|SLC39A1_ENST00000310483.6_Missense_Mutation_p.L189I	p.L189I			Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	3	1324	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		189					B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	ENST00000368623.3	37	c.565C>A	CCDS1055.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081631	0.36758	.	.	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000537590;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	4.74	3.56	0.40772	.	0.000000	0.53938	D	0.000048	T	0.30198	0.0757	L	0.49350	1.555	0.38519	D	0.948669	P;B	0.44344	0.833;0.048	P;B	0.46362	0.514;0.2	T	0.07366	-1.0776	10	0.37606	T	0.19	-8.2412	8.4011	0.32586	0.1529:0.0:0.8471:0.0	.	87;189	B4DDY7;Q9NY26	.;S39A1_HUMAN	I	189;189;189;189;87;178;189;189;189	ENSP00000348535:L189I;ENSP00000357612:L189I;ENSP00000357610:L189I;ENSP00000309710:L189I;ENSP00000443632:L87I;ENSP00000392950:L189I;ENSP00000392229:L189I;ENSP00000407717:L189I	ENSP00000309710:L189I	L	-	1	0	SLC39A1	152199608	0.973000	0.33851	1.000000	0.80357	0.308000	0.27856	1.780000	0.38634	0.889000	0.36185	0.462000	0.41574	CTC		0.677	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		31	33	1	0	9.78306e-22	1	1.08194e-21	31	33				
PPP1R16B	26051	broad.mit.edu	37	20	37546949	37546949	+	Silent	SNP	T	T	C	rs201078949		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:37546949T>C	ENST00000299824.1	+	11	1533	c.1344T>C	c.(1342-1344)caT>caC	p.H448H	PPP1R16B_ENST00000373331.2_Silent_p.H406H	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	448					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGAAGGTGCATGAGGTGCCTG	0.627																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1342-1344)caT>caC		protein phosphatase 1, regulatory subunit 16B							148.0	138.0	142.0					20																	37546949		2203	4300	6503	SO:0001819	synonymous_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37546949T>C	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1344T>C	20.37:g.37546949T>C						PPP1R16B_ENST00000373331.2_Silent_p.H406H	p.H448H	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			11	1533	+		Myeloproliferative disorder(115;0.00878)	448					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	c.1344T>C	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.254256	0.22965	.	.	ENSG00000101445	ENST00000438192	.	.	.	5.3	-9.45	0.00600	.	.	.	.	.	T	0.56761	0.2007	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65656	-0.6115	4	.	.	.	.	13.3109	0.60380	0.0:0.7285:0.0854:0.1861	.	.	.	.	T	349	.	.	M	+	2	0	PPP1R16B	36980363	0.066000	0.20996	0.852000	0.33557	0.997000	0.91878	-1.013000	0.03645	-1.416000	0.02019	0.533000	0.62120	ATG		0.627	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		11	349	0	0	0	1	0	11	349				
HSD17B7P2	158160	broad.mit.edu	37	10	38651194	38651194	+	RNA	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:38651194T>C	ENST00000494540.1	+	0	341					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TTAGACCGTATATATCTAAAT	0.358																																						ENST00000494540.1																			0																																																			0							g.chr10:38651194T>C			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38651194T>C								NR_003086.1						0	341	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.358	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		23	49	0	0	0	1	0	23	49				
ZSCAN22	342945	broad.mit.edu	37	19	58850389	58850389	+	Silent	SNP	G	G	A	rs140941763	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58850389G>A	ENST00000329665.4	+	3	1320	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	391					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCTTCAGCCAGAGCACGCACC	0.637																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(1171-1173)caG>caA		zinc finger and SCAN domain containing 22		G		11,4395	17.9+/-39.9	0,11,2192	80.0	73.0	75.0		1173	1.6	1.0	19	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	ZSCAN22	NM_181846.2		0,11,6492	AA,AG,GG		0.0,0.2497,0.0846		391/492	58850389	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850389G>A	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1173G>A	19.37:g.58850389G>A							p.Q391Q	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1320	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	391					Q15922|Q7Z3L8	Silent	SNP	ENST00000329665.4	37	c.1173G>A	CCDS12975.1																																																																																				0.637	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		46	64	0	0	0	1	0	46	64				
PODN	127435	broad.mit.edu	37	1	53543382	53543382	+	Missense_Mutation	SNP	C	C	G	rs200853703		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:53543382C>G	ENST00000312553.5	+	7	915	c.908C>G	c.(907-909)cCg>cGg	p.P303R	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.P161R|PODN_ENST00000371500.3_Missense_Mutation_p.P284R	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	255					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGATCCCCCCGGGGGCCTTC	0.612																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(850-852)cCg>cGg		podocan							97.0	110.0	106.0					1																	53543382		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53543382C>G	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.908C>G	1.37:g.53543382C>G	ENSP00000308315:p.Pro303Arg					PODN_ENST00000395871.2_Missense_Mutation_p.P161R|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.P303R	p.P284R	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			9	1192	+			255					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.851C>G	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	2.073	-0.412521	0.04799	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.58797	0.31;0.31;0.31	4.96	4.96	0.65561	.	0.464279	0.25327	N	0.031470	T	0.48150	0.1484	N	0.20986	0.625	0.09310	N	0.999993	B;P;B	0.43788	0.06;0.817;0.043	B;P;B	0.47941	0.123;0.562;0.018	T	0.33979	-0.9847	10	0.12103	T	0.63	.	13.1932	0.59723	0.1986:0.8014:0.0:0.0	.	161;284;303	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	R	284;161;303	ENSP00000360555:P284R;ENSP00000379212:P161R;ENSP00000308315:P303R	ENSP00000308315:P303R	P	+	2	0	PODN	53315970	0.014000	0.17966	0.995000	0.50966	0.473000	0.32948	1.190000	0.32126	2.564000	0.86499	0.561000	0.74099	CCG		0.612	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		59	142	0	0	0	1	0	59	142				
SLC5A6	8884	broad.mit.edu	37	2	27423872	27423872	+	Silent	SNP	G	G	A	rs140378947		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:27423872G>A	ENST00000310574.3	-	16	2231	c.1758C>T	c.(1756-1758)taC>taT	p.Y586Y	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Silent_p.Y586Y	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	586					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CTACCTGGCCGTAGCTCCTGC	0.592													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15636	0.0		0.0	False		,,,				2504	0.0					ENST00000310574.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20						c.(1756-1758)taC>taT		solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	Biotin(DB00121)|Lipoic Acid(DB00166)	A		2,4404	4.2+/-10.8	0,2,2201	79.0	74.0	76.0		1758	0.3	0.0	2	dbSNP_134	76	0,8598		0,0,4299	no	coding-synonymous	SLC5A6	NM_021095.2		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		586/636	27423872	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27423872G>A	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1758C>T	2.37:g.27423872G>A						SLC5A6_ENST00000408041.1_Silent_p.Y586Y	p.Y586Y	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN			16	2231	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		586					B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	37	c.1758C>T	CCDS1740.1																																																																																				0.592	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		4	23	0	0	0	1	0	4	23				
DNAH10	196385	broad.mit.edu	37	12	124418011	124418011	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:124418011T>C	ENST00000409039.3	+	76	13101	c.13076T>C	c.(13075-13077)gTg>gCg	p.V4359A	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron|RP11-380L11.3_ENST00000602292.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4359					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCACACAAGTGACCAAGTTC	0.592																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(13075-13077)gTg>gCg		dynein, axonemal, heavy chain 10							53.0	55.0	54.0					12																	124418011		2004	4159	6163	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124418011T>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.13076T>C	12.37:g.124418011T>C	ENSP00000386770:p.Val4359Ala					DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	p.V4359A	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	76	13101	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4359					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.13076T>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	32	5.150942	0.94645	.	.	ENSG00000197653	ENST00000409039	T	0.12361	2.69	5.18	5.18	0.71444	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.48314	0.1493	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62854	-0.6766	10	0.87932	D	0	.	14.7089	0.69211	0.0:0.0:0.0:1.0	.	4359	Q8IVF4	DYH10_HUMAN	A	4359	ENSP00000386770:V4359A	ENSP00000386770:V4359A	V	+	2	0	DNAH10	122983964	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.846000	0.86887	1.955000	0.56771	0.459000	0.35465	GTG		0.592	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			53	52	0	0	0	1	0	53	52				
ZSWIM8	23053	broad.mit.edu	37	10	75550867	75550867	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:75550867A>G	ENST00000605216.1	+	8	1293	c.1076A>G	c.(1075-1077)aAg>aGg	p.K359R	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.K359R	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	359							zinc ion binding (GO:0008270)										GAGATGTTCAAGCGGAGGGAC	0.607																																						ENST00000604729.1																			0											c.(1075-1077)aAg>aGg		zinc finger, SWIM-type containing 8							58.0	65.0	63.0					10																	75550867		2081	4206	6287	SO:0001583	missense	23053							g.chr10:75550867A>G	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.1076A>G	10.37:g.75550867A>G	ENSP00000474748:p.Lys359Arg					ZSWIM8_ENST00000603114.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.K359R	p.K359R							8	1373	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.1076A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.494|5.494	0.276233|0.276233	0.10403|0.10403	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000451629	T|.	0.72167|.	-0.63|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.184972|.	0.31673|.	U|.	0.007256|.	T|T	0.38134|0.38134	0.1029|0.1029	N|N	0.05306|0.05306	-0.075|-0.075	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.67145|.	0.996;0.996;0.996|.	D;D;D|.	0.76071|.	0.981;0.987;0.981|.	T|T	0.32929|0.32929	-0.9888|-0.9888	10|5	0.27082|.	T|.	0.32|.	-5.5838|-5.5838	15.5075|15.5075	0.75753|0.75753	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	359;359;359|.	A7E2V4;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.|.	R|G	359|162	ENSP00000381693:K359R|.	ENSP00000381693:K359R|.	K|S	+|+	2|1	0|0	KIAA0913|KIAA0913	75220873|75220873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	8.701000|8.701000	0.91331|0.91331	2.250000|2.250000	0.74265|0.74265	0.482000|0.482000	0.46254|0.46254	AAG|AGC		0.607	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		23	65	0	0	0	1	0	23	65				
PRRC2A	7916	broad.mit.edu	37	6	31594934	31594934	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:31594934C>T	ENST00000376033.2	+	11	1483	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R417W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	417	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCACCTCACCGGGGCCCCGC	0.652																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1249-1251)Cgg>Tgg		proline-rich coiled-coil 2A							12.0	15.0	14.0					6																	31594934		2181	4258	6439	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31594934C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1249C>T	6.37:g.31594934C>T	ENSP00000365201:p.Arg417Trp					PRRC2A_ENST00000376007.4_Missense_Mutation_p.R417W	p.R417W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			11	1483	+			417			2 X type B repeats.|4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1249C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630459	0.28978	.	.	ENSG00000204469	ENST00000424184;ENST00000376007;ENST00000376033	T;T	0.03860	3.78;3.78	4.7	2.73	0.32206	.	0.000000	0.44902	D	0.000403	T	0.06554	0.0168	L	0.55990	1.75	0.39277	D	0.964498	D	0.71674	0.998	P	0.57620	0.824	T	0.11567	-1.0582	10	0.87932	D	0	-14.3797	11.281	0.49195	0.3297:0.6703:0.0:0.0	.	417	P48634	PRC2A_HUMAN	W	417	ENSP00000365175:R417W;ENSP00000365201:R417W	ENSP00000365175:R417W	R	+	1	2	PRRC2A	31702913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.512000	0.35812	1.296000	0.44742	0.655000	0.94253	CGG		0.652	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		41	30	0	0	0	1	0	41	30				
C9orf84	158401	broad.mit.edu	37	9	114543240	114543240	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:114543240G>A	ENST00000318737.4	-	2	163	c.35C>T	c.(34-36)gCa>gTa	p.A12V	C9orf84_ENST00000374287.3_Missense_Mutation_p.A12V|C9orf84_ENST00000374283.5_Missense_Mutation_p.A76V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	12										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAAGAAACTTGCTTTCCATTG	0.353																																						ENST00000374287.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(34-36)gCa>gTa		chromosome 9 open reading frame 84							89.0	87.0	88.0					9																	114543240		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114543240G>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.35C>T	9.37:g.114543240G>A	ENSP00000322108:p.Ala12Val					C9orf84_ENST00000318737.4_Missense_Mutation_p.A12V|C9orf84_ENST00000374283.5_Missense_Mutation_p.A76V	p.A12V			Q5VXU9	CI084_HUMAN			4	295	-			12					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.35C>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992827	0.74703	.	.	ENSG00000165181	ENST00000374287;ENST00000318737;ENST00000374283	T;T;T	0.48836	3.54;3.54;0.8	4.52	4.52	0.55395	.	0.467868	0.16017	N	0.233515	T	0.52208	0.1720	L	0.27053	0.805	0.27999	N	0.935365	D;D	0.67145	0.996;0.974	P;P	0.62740	0.906;0.613	T	0.45220	-0.9276	10	0.52906	T	0.07	-5.7853	12.6334	0.56669	0.0:0.0:1.0:0.0	.	76;12	Q5VXU9-2;Q5VXU9	.;CI084_HUMAN	V	12;12;76	ENSP00000363405:A12V;ENSP00000322108:A12V;ENSP00000363401:A76V	ENSP00000322108:A12V	A	-	2	0	C9orf84	113583061	0.972000	0.33761	0.993000	0.49108	0.799000	0.45148	3.353000	0.52247	2.340000	0.79590	0.585000	0.79938	GCA		0.353	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		31	37	0	0	0	1	0	31	37				
CAPN9	10753	broad.mit.edu	37	1	230907846	230907846	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:230907846G>A	ENST00000271971.2	+	7	988		c.e7+1		CAPN9_ENST00000366666.2_Splice_Site|CAPN9_ENST00000354537.1_Splice_Site|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9						digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGAGCGACAGGTCAGTCACCC	0.597																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.e7+1		calpain 9							79.0	71.0	74.0					1																	230907846		2203	4300	6503	SO:0001630	splice_region_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230907846G>A	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.875+1G>A	1.37:g.230907846G>A						CAPN9_ENST00000366666.2_Splice_Site|CAPN9_ENST00000271971.2_Splice_Site|RP11-99J16__A.2_ENST00000412344.1_RNA		NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			7	957	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)						B1APS1|B1AQI0|Q9NS74	Splice_Site	SNP	ENST00000271971.2	37		CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757654	0.89843	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0791	0.89437	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAPN9	228974469	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.514000	0.98013	2.502000	0.84385	0.655000	0.94253	.		0.597	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615	Intron	37	57	0	0	0	1	0	37	57				
RBM25	58517	broad.mit.edu	37	14	73577560	73577560	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:73577560C>T	ENST00000261973.7	+	15	1999	c.1714C>T	c.(1714-1716)Cgc>Tgc	p.R572C	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.R572C	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	572	Glu-rich.|Necessary for nuclear speckle localization.			RRRQ -> EAQE (in Ref. 8; AAC41999). {ECO:0000305}.	mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GGCTGAGAGGCGCAGGCAGCC	0.388																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1714-1716)Cgc>Tgc		RNA binding motif protein 25							30.0	31.0	31.0					14																	73577560		2203	4300	6503	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73577560C>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1714C>T	14.37:g.73577560C>T	ENSP00000261973:p.Arg572Cys					RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.R572C	p.R572C	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	15	1999	+			572	RRRQ -> EAQE (in Ref. 8; AAC41999).		Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.1714C>T	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505900	0.64410	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.13778	2.56;2.56	5.44	5.44	0.79542	.	0.050467	0.85682	D	0.000000	T	0.15435	0.0372	L	0.44542	1.39	0.80722	D	1	D	0.63880	0.993	B	0.41135	0.348	T	0.01720	-1.1288	10	0.38643	T	0.18	.	19.2568	0.93949	0.0:1.0:0.0:0.0	.	572	P49756	RBM25_HUMAN	C	572	ENSP00000261973:R572C;ENSP00000431150:R572C	ENSP00000261973:R572C	R	+	1	0	RBM25	72647313	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.612000	0.67681	2.554000	0.86153	0.467000	0.42956	CGC		0.388	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		7	18	0	0	0	1	0	7	18				
CACNB2	783	broad.mit.edu	37	10	18787305	18787305	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:18787305G>A	ENST00000324631.7	+	4	415	c.355G>A	c.(355-357)Gtt>Att	p.V119I	CACNB2_ENST00000377331.2_Missense_Mutation_p.V91I|CACNB2_ENST00000377315.4_Missense_Mutation_p.V71I|CACNB2_ENST00000377329.4_Missense_Mutation_p.V65I|CACNB2_ENST00000396576.2_Missense_Mutation_p.V64I|CACNB2_ENST00000282343.8_Missense_Mutation_p.V91I|CACNB2_ENST00000352115.6_Missense_Mutation_p.V119I|CACNB2_ENST00000377328.1_Missense_Mutation_p.V119I|CACNB2_ENST00000377319.3_Missense_Mutation_p.V64I	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	119	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCATTTGCGGTTCGGACAAA	0.448																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(190-192)Gtt>Att		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						120.0	105.0	110.0					10																	18787305		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18787305G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.355G>A	10.37:g.18787305G>A	ENSP00000320025:p.Val119Ile					CACNB2_ENST00000377331.2_Missense_Mutation_p.V91I|CACNB2_ENST00000377319.3_Missense_Mutation_p.V64I|CACNB2_ENST00000377328.1_Missense_Mutation_p.V119I|CACNB2_ENST00000377329.4_Missense_Mutation_p.V65I|CACNB2_ENST00000352115.6_Missense_Mutation_p.V119I|CACNB2_ENST00000324631.7_Missense_Mutation_p.V119I|CACNB2_ENST00000377315.4_Missense_Mutation_p.V71I|CACNB2_ENST00000282343.8_Missense_Mutation_p.V91I	p.V64I	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			3	691	+			119					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.190G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708156	0.89018	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.73	5.73	0.89815	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	M	0.89840	3.065	0.80722	D	1	D;D;P;P;B;D;P;D;D;D;D;D;D;D;D;B	0.76494	0.998;0.994;0.874;0.587;0.283;0.994;0.52;0.997;0.96;0.992;0.999;0.999;0.96;0.999;0.997;0.283	D;D;D;P;P;D;P;D;D;D;D;D;D;D;D;P	0.81914	0.995;0.97;0.916;0.849;0.47;0.978;0.745;0.976;0.995;0.993;0.994;0.995;0.995;0.994;0.973;0.47	D	0.95095	0.8225	10	0.62326	D	0.03	-14.4168	19.8949	0.96954	0.0:0.0:1.0:0.0	.	71;71;65;65;91;119;71;65;65;75;64;91;91;119;119;119	B7Z1U5;B7Z2U3;Q5QJ99;Q6TME0;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	I	119;119;119;91;91;64;64;65;71	ENSP00000320025:V119I;ENSP00000344474:V119I;ENSP00000366545:V119I;ENSP00000282343:V91I;ENSP00000366548:V91I;ENSP00000379821:V64I;ENSP00000366536:V64I;ENSP00000366546:V65I;ENSP00000366532:V71I	ENSP00000282343:V91I	V	+	1	0	CACNB2	18827311	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.869000	0.99810	2.704000	0.92352	0.650000	0.86243	GTT		0.448	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		20	32	0	0	0	1	0	20	32				
RASAL3	64926	broad.mit.edu	37	19	15572069	15572069	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:15572069C>A	ENST00000343625.7	-	4	589	c.504G>T	c.(502-504)gaG>gaT	p.E168D		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	168					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGATGCTGCCCTCGGAGCTAG	0.627																																						ENST00000343625.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(502-504)gaG>gaT		RAS protein activator like 3							40.0	43.0	42.0					19																	15572069		1931	4130	6061	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15572069C>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.504G>T	19.37:g.15572069C>A	ENSP00000341905:p.Glu168Asp						p.E168D	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN			4	584	-			168					Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.504G>T	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	C	9.398	1.077284	0.20227	.	.	ENSG00000105122	ENST00000343625	T	0.29142	1.58	3.88	-2.39	0.06602	.	0.000000	0.32769	U	0.005677	T	0.24122	0.0584	L	0.56769	1.78	0.09310	N	1	P	0.34522	0.455	B	0.34138	0.176	T	0.13522	-1.0506	10	0.44086	T	0.13	.	8.1321	0.31033	0.0:0.5186:0.0:0.4814	.	168	Q86YV0	RASL3_HUMAN	D	168	ENSP00000341905:E168D	ENSP00000341905:E168D	E	-	3	2	RASAL3	15433069	0.000000	0.05858	0.012000	0.15200	0.290000	0.27261	-0.697000	0.05098	-0.513000	0.06496	0.462000	0.41574	GAG		0.627	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		13	21	1	0	9.31168e-06	1	9.57367e-06	13	21				
FAAH2	158584	broad.mit.edu	37	X	57337042	57337042	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:57337042A>G	ENST00000374900.4	+	3	412	c.292A>G	c.(292-294)Aag>Gag	p.K98E		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	98				K -> R (in Ref. 1; BAB71007). {ECO:0000305}.		integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GGAAGCGATGAAGGAGGCTCA	0.393										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(292-294)Aag>Gag		fatty acid amide hydrolase 2							84.0	73.0	77.0					X																	57337042		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57337042A>G	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.292A>G	X.37:g.57337042A>G	ENSP00000364035:p.Lys98Glu	HNSCC(52;0.14)					p.K98E	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			3	412	+			98	K -> R (in Ref. 1; BAB71007).				Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.292A>G	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.416722	0.01136	.	.	ENSG00000165591	ENST00000374900	T	0.61627	0.09	2.34	-0.451	0.12214	Amidase signature domain (2);	0.165187	0.40469	U	0.001093	T	0.16171	0.0389	N	0.00801	-1.175	0.23776	N	0.996875	B	0.10296	0.003	B	0.14023	0.01	T	0.28839	-1.0031	10	0.08179	T	0.78	.	2.1746	0.03859	0.4478:0.3263:0.2259:0.0	.	98	Q6GMR7	FAAH2_HUMAN	E	98	ENSP00000364035:K98E	ENSP00000364035:K98E	K	+	1	0	FAAH2	57353767	0.457000	0.25752	0.842000	0.33263	0.160000	0.22226	0.374000	0.20501	0.736000	0.32559	0.339000	0.21740	AAG		0.393	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		20	30	0	0	0	1	0	20	30				
DNAH7	56171	broad.mit.edu	37	2	196922833	196922833	+	Missense_Mutation	SNP	G	G	A	rs371246623		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:196922833G>A	ENST00000312428.6	-	2	123	c.23C>T	c.(22-24)tCg>tTg	p.S8L	DNAH7_ENST00000410072.1_Missense_Mutation_p.S8L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	8	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTGCTGGCCGATTTATCCTG	0.313																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(22-24)tCg>tTg		dynein, axonemal, heavy chain 7		G	LEU/SER	0,3602		0,0,1801	184.0	177.0	179.0		23	2.5	0.0	2		179	1,8137		0,1,4068	no	missense	DNAH7	NM_018897.2	145	0,1,5869	AA,AG,GG		0.0123,0.0,0.0085	benign	8/4025	196922833	1,11739	1801	4069	5870	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196922833G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.23C>T	2.37:g.196922833G>A	ENSP00000311273:p.Ser8Leu					DNAH7_ENST00000410072.1_Missense_Mutation_p.S8L	p.S8L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			2	123	-			8			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.23C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	4.801	0.148966	0.09185	0.0	1.23E-4	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.21031	2.03;2.93	4.29	2.48	0.30137	.	.	.	.	.	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37619	-0.9698	9	0.17832	T	0.49	.	6.3241	0.21234	0.2249:0.0:0.7751:0.0	.	8	Q8WXX0	DYH7_HUMAN	L	8	ENSP00000311273:S8L;ENSP00000386260:S8L	ENSP00000311273:S8L	S	-	2	0	DNAH7	196631078	0.001000	0.12720	0.009000	0.14445	0.298000	0.27526	0.203000	0.17315	0.742000	0.32697	-0.214000	0.12660	TCG		0.313	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		31	33	0	0	0	1	0	31	33				
SLCO1C1	53919	broad.mit.edu	37	12	20864412	20864412	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:20864412T>C	ENST00000266509.2	+	5	865	c.497T>C	c.(496-498)gTt>gCt	p.V166A	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.V166A|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.V48A|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.V166A|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.V166A	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	166					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCAGTTTCAGTTATGGAAAAA	0.343																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(496-498)gTt>gCt		solute carrier organic anion transporter family, member 1C1							112.0	112.0	112.0					12																	20864412		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20864412T>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.497T>C	12.37:g.20864412T>C	ENSP00000266509:p.Val166Ala					SLCO1C1_ENST00000545102.1_Missense_Mutation_p.V48A|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.V166A|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.V166A|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.V166A	p.V166A			Q9NYB5	SO1C1_HUMAN			5	865	+	Esophageal squamous(101;0.149)		166					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.497T>C	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	T	0.681	-0.798305	0.02841	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.57752	1.25;0.38;1.25;1.25;1.25	4.41	2.02	0.26589	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.182910	0.05901	N	0.629968	T	0.29061	0.0722	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.12013	0.004;0.0;0.005;0.0	B;B;B;B	0.11329	0.006;0.002;0.005;0.002	T	0.19582	-1.0301	10	0.02654	T	1	.	6.9392	0.24483	0.0:0.3016:0.0:0.6984	.	48;166;166;166	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	A	166;166;166;166;48	ENSP00000444149:V166A;ENSP00000438665:V166A;ENSP00000266509:V166A;ENSP00000370964:V166A;ENSP00000444527:V48A	ENSP00000266509:V166A	V	+	2	0	SLCO1C1	20755679	0.002000	0.14202	0.001000	0.08648	0.022000	0.10575	0.464000	0.21988	0.236000	0.21180	0.533000	0.62120	GTT		0.343	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		24	40	0	0	0	1	0	24	40				
PSD2	84249	broad.mit.edu	37	5	139221883	139221883	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:139221883C>A	ENST00000274710.3	+	15	2345	c.2140C>A	c.(2140-2142)Ctc>Atc	p.L714I		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	714					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATATCCACCTCCTGGCTAT	0.473																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(2140-2142)Ctc>Atc		pleckstrin and Sec7 domain containing 2							71.0	69.0	70.0					5																	139221883		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139221883C>A	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.2140C>A	5.37:g.139221883C>A	ENSP00000274710:p.Leu714Ile						p.L714I	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2345	+			714					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.2140C>A	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595041	0.86953	.	.	ENSG00000146005	ENST00000274710	T	0.15139	2.45	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	L	0.46947	1.48	0.80722	D	1	P	0.37276	0.589	B	0.32393	0.145	T	0.01405	-1.1363	10	0.35671	T	0.21	.	18.479	0.90804	0.0:1.0:0.0:0.0	.	714	Q9BQI7	PSD2_HUMAN	I	714	ENSP00000274710:L714I	ENSP00000274710:L714I	L	+	1	0	PSD2	139202067	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.608000	0.67654	2.793000	0.96121	0.655000	0.94253	CTC		0.473	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		21	52	1	0	1.10513e-12	1	1.18051e-12	21	52				
ZDHHC7	55625	broad.mit.edu	37	16	85015539	85015539	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:85015539C>A	ENST00000313732.4	-	4	729	c.377G>T	c.(376-378)gGg>gTg	p.G126V	ZDHHC7_ENST00000569488.1_Intron|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.G163V	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	126					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						GATGACTTCCCCGGGCTTCAG	0.527																																						ENST00000313732.4																			0				large_intestine(6)|lung(4)	10						c.(376-378)gGg>gTg		zinc finger, DHHC-type containing 7							146.0	155.0	152.0					16																	85015539		2199	4300	6499	SO:0001583	missense	55625					integral to membrane	acyltransferase activity|protein binding|zinc ion binding	g.chr16:85015539C>A	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.377G>T	16.37:g.85015539C>A	ENSP00000315604:p.Gly126Val					ZDHHC7_ENST00000569488.1_Intron|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.G163V	p.G126V	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN			4	729	-			126					D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	ENST00000313732.4	37	c.377G>T	CCDS10950.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938259	0.92526	.	.	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.35236	1.89;1.32	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	M	0.82517	2.595	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.72982	0.964;0.979	T	0.69650	-0.5088	10	0.87932	D	0	-23.4483	18.4162	0.90571	0.0:1.0:0.0:0.0	.	163;126	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	V	126;163	ENSP00000315604:G126V;ENSP00000341681:G163V	ENSP00000315604:G126V	G	-	2	0	ZDHHC7	83573040	1.000000	0.71417	0.915000	0.36163	0.940000	0.58332	7.642000	0.83385	2.658000	0.90341	0.655000	0.94253	GGG		0.527	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		87	100	1	0	3.98749e-38	1	4.4949e-38	87	100				
CPAMD8	27151	broad.mit.edu	37	19	17108016	17108016	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17108016C>T	ENST00000443236.1	-	11	1172	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	CPAMD8_ENST00000388925.4_Missense_Mutation_p.D334N	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	334						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGGAGTCATCGAACGCGACC	0.642																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(1141-1143)Gat>Aat		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							38.0	38.0	38.0					19																	17108016		1943	4094	6037	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17108016C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1141G>A	19.37:g.17108016C>T	ENSP00000402505:p.Asp381Asn					CPAMD8_ENST00000388925.4_Missense_Mutation_p.D334N	p.D381N	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			11	1172	-			334					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.1141G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	c	14.50	2.553805	0.45487	.	.	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.51817	0.69;0.71	3.0	3.0	0.34707	.	0.000000	0.64402	D	0.000002	T	0.62208	0.2409	L	0.54965	1.715	0.45567	D	0.998512	D	0.89917	1.0	D	0.85130	0.997	T	0.65183	-0.6230	10	0.51188	T	0.08	.	14.3086	0.66400	0.0:1.0:0.0:0.0	.	334	Q8IZJ3	CPMD8_HUMAN	N	381;334	ENSP00000291440:D381N;ENSP00000373577:D334N	ENSP00000291440:D381N	D	-	1	0	CPAMD8	16969016	1.000000	0.71417	0.010000	0.14722	0.018000	0.09664	4.747000	0.62141	1.423000	0.47198	0.555000	0.69702	GAT		0.642	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		17	25	0	0	0	1	0	17	25				
NR4A1	3164	broad.mit.edu	37	12	52451181	52451181	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:52451181G>A	ENST00000243050.1	+	7	1721	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	NR4A1_ENST00000545748.1_Silent_p.V523V|NR4A1_ENST00000394824.2_Silent_p.V469V|NR4A1_ENST00000394825.1_Silent_p.V469V|NR4A1_ENST00000550082.1_Silent_p.V482V|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000360284.3_Silent_p.V482V	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	469					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CAGGCCTGGTGCTACACCGGC	0.602																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1567-1569)gtG>gtA		nuclear receptor subfamily 4, group A, member 1							110.0	96.0	101.0					12																	52451181		2203	4300	6503	SO:0001819	synonymous_variant	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52451181G>A	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1407G>A	12.37:g.52451181G>A						NR4A1_ENST00000550082.1_Silent_p.V482V|NR4A1_ENST00000394825.1_Silent_p.V469V|NR4A1_ENST00000394824.2_Silent_p.V469V|NR4A1_ENST00000243050.1_Silent_p.V469V|NR4A1_ENST00000360284.3_Silent_p.V482V	p.V523V			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	7	2564	+			469					B4DML7|Q15627|Q53Y00|Q6IBU8	Silent	SNP	ENST00000243050.1	37	c.1569G>A	CCDS8818.1																																																																																				0.602	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			30	49	0	0	0	1	0	30	49				
ADAMTSL4	54507	broad.mit.edu	37	1	150531877	150531877	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:150531877C>T	ENST00000369038.2	+	15	3079	c.2878C>T	c.(2878-2880)Cct>Tct	p.P960S	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P960S|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P983S			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	960	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCCAGGCCCCCTGCCCTGCA	0.617											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2878-2880)Cct>Tct		ADAMTS-like 4							76.0	63.0	67.0					1																	150531877		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150531877C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2878C>T	1.37:g.150531877C>T	ENSP00000358034:p.Pro960Ser		OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1733	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P983S|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.P960S	p.P960S	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		17	3114	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		960			TSP type-1 5.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.2878C>T	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320227	0.60634	.	.	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.60548	0.18;0.18;0.18	5.52	4.6	0.57074	.	.	.	.	.	T	0.43366	0.1244	L	0.48362	1.52	0.35638	D	0.810738	D;P;P	0.53619	0.961;0.705;0.831	P;B;P	0.48815	0.591;0.343;0.506	T	0.42430	-0.9452	9	0.35671	T	0.21	.	12.0047	0.53252	0.0:0.9155:0.0:0.0845	.	921;983;960	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	S	960;983;960	ENSP00000271643:P960S;ENSP00000358035:P983S;ENSP00000358034:P960S	ENSP00000271643:P960S	P	+	1	0	ADAMTSL4	148798501	0.010000	0.17322	0.991000	0.47740	0.947000	0.59692	1.434000	0.34958	1.311000	0.45024	0.462000	0.41574	CCT		0.617	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		36	53	0	0	0	1	0	36	53				
TRO	7216	broad.mit.edu	37	X	54948702	54948702	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:54948702G>T	ENST00000173898.7	+	2	135	c.23G>T	c.(22-24)gGa>gTa	p.G8V	TRO_ENST00000399736.1_Missense_Mutation_p.G8V|TRO_ENST00000319167.8_Missense_Mutation_p.G8V|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000420798.2_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G8V|TRO_ENST00000375022.4_Missense_Mutation_p.G8V	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	8					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AATGACTACGGATATAGGGTG	0.532																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(22-24)gGa>gTa		trophinin							125.0	113.0	117.0					X																	54948702		1961	4132	6093	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54948702G>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.23G>T	X.37:g.54948702G>T	ENSP00000173898:p.Gly8Val					TRO_ENST00000420798.2_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G8V|TRO_ENST00000319167.8_Missense_Mutation_p.G8V|TRO_ENST00000375022.4_Missense_Mutation_p.G8V|TRO_ENST00000399736.1_Missense_Mutation_p.G8V|TRO_ENST00000484031.1_3'UTR	p.G8V	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			2	135	+			8					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.23G>T	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	9.702	1.154803	0.21371	.	.	ENSG00000067445	ENST00000442098;ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000431115;ENST00000375041;ENST00000440759;ENST00000416704	T;T;T;T;T;T;T;T;T	0.58358	0.34;3.32;3.12;3.12;2.13;1.36;3.6;0.36;0.36	3.15	1.3	0.21679	.	.	.	.	.	T	0.41119	0.1145	N	0.19112	0.55	0.09310	N	1	P;P;P;D	0.54964	0.937;0.61;0.917;0.969	B;B;B;P	0.50352	0.403;0.094;0.278;0.638	T	0.20042	-1.0287	9	0.51188	T	0.08	.	4.5173	0.11940	0.3475:0.0:0.6525:0.0	.	8;8;8;8	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	V	8	ENSP00000404645:G8V;ENSP00000173898:G8V;ENSP00000318278:G8V;ENSP00000364162:G8V;ENSP00000382641:G8V;ENSP00000407996:G8V;ENSP00000364181:G8V;ENSP00000406574:G8V;ENSP00000404767:G8V	ENSP00000173898:G8V	G	+	2	0	TRO	54965427	0.017000	0.18338	0.001000	0.08648	0.121000	0.20230	1.653000	0.37323	0.197000	0.20387	0.513000	0.50165	GGA		0.532	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		8	11	1	0	1.12685e-05	1	1.1572e-05	8	11				
DGKB	1607	broad.mit.edu	37	7	14217687	14217687	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:14217687G>A	ENST00000403951.2	-	24	2634	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	DGKB_ENST00000258767.5_Missense_Mutation_p.R739W|DGKB_ENST00000402815.1_Missense_Mutation_p.R738W|DGKB_ENST00000444700.2_Missense_Mutation_p.R720W|DGKB_ENST00000407950.1_Missense_Mutation_p.R731W|DGKB_ENST00000406247.3_Missense_Mutation_p.R739W|DGKB_ENST00000399322.3_Missense_Mutation_p.R739W			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	739					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TGAGCCAGCCGCCGGCCAGCA	0.507																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2215-2217)Cgg>Tgg		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						57.0	66.0	63.0					7																	14217687		2105	4273	6378	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14217687G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2215C>T	7.37:g.14217687G>A	ENSP00000385780:p.Arg739Trp					DGKB_ENST00000258767.5_Missense_Mutation_p.R739W|DGKB_ENST00000444700.2_Missense_Mutation_p.R720W|DGKB_ENST00000399322.3_Missense_Mutation_p.R739W|DGKB_ENST00000407950.1_Missense_Mutation_p.R731W|DGKB_ENST00000406247.3_Missense_Mutation_p.R739W|DGKB_ENST00000402815.1_Missense_Mutation_p.R738W	p.R739W			Q9Y6T7	DGKB_HUMAN			24	2634	-			739					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.2215C>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637685	0.67130	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.8	3.94	0.45596	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.74658	0.3745	H	0.96175	3.78	0.43126	D	0.994855	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.83054	-0.0151	10	0.87932	D	0	.	14.4022	0.67056	0.0:0.0:0.6215:0.3785	.	738;720;739;739	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	W	739;739;739;738;731;720;739	ENSP00000385780:R739W;ENSP00000382260:R739W;ENSP00000258767:R739W;ENSP00000384909:R738W;ENSP00000385031:R731W;ENSP00000388451:R720W;ENSP00000386066:R739W	ENSP00000258767:R739W	R	-	1	2	DGKB	14184212	0.990000	0.36364	0.997000	0.53966	0.826000	0.46750	2.033000	0.41136	0.742000	0.32697	0.561000	0.74099	CGG		0.507	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		39	61	0	0	0	1	0	39	61				
FOXG1	2290	broad.mit.edu	37	14	29237048	29237048	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:29237048C>T	ENST00000313071.4	+	1	762	c.563C>T	c.(562-564)gCg>gTg	p.A188V	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.A188V|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	188					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGCTACAACGCGCTCATCATG	0.612																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(562-564)gCg>gTg		forkhead box G1							38.0	39.0	39.0					14																	29237048		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237048C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.563C>T	14.37:g.29237048C>T	ENSP00000339004:p.Ala188Val					FOXG1_ENST00000313071.4_Missense_Mutation_p.A188V	p.A188V			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	932	+			188					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.563C>T	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658865	0.88154	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.95482	-3.72;-3.72	3.09	3.09	0.35607	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.96670	0.8913	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96926	0.9677	10	0.87932	D	0	.	13.7386	0.62833	0.0:1.0:0.0:0.0	.	188	P55316	FOXG1_HUMAN	V	188	ENSP00000371975:A188V;ENSP00000339004:A188V	ENSP00000339004:A188V	A	+	2	0	FOXG1	28306799	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.534000	0.82004	1.265000	0.44215	0.298000	0.19748	GCG		0.612	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			16	29	0	0	0	1	0	16	29				
MAD1L1	8379	broad.mit.edu	37	7	1976422	1976422	+	Nonsense_Mutation	SNP	G	G	A	rs376905987		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:1976422G>A	ENST00000406869.1	-	17	2265	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	MAD1L1_ENST00000402746.1_Nonsense_Mutation_p.R478*|MAD1L1_ENST00000399654.2_Nonsense_Mutation_p.R570*|MAD1L1_ENST00000265854.7_Nonsense_Mutation_p.R570*			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	570					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCGCGCAGTCGCTCGCACTCC	0.692																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1708-1710)Cga>Tga		MAD1 mitotic arrest deficient-like 1 (yeast)		G	stop/ARG,stop/ARG,stop/ARG	0,4250		0,0,2125	16.0	21.0	20.0		1708,1708,1708	3.8	0.9	7		20	1,8393		0,1,4196	no	stop-gained,stop-gained,stop-gained	MAD1L1	NM_001013836.1,NM_001013837.1,NM_003550.2	,,	0,1,6321	AA,AG,GG		0.0119,0.0,0.0079	,,	570/719,570/719,570/719	1976422	1,12643	2125	4197	6322	SO:0001587	stop_gained	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1976422G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1708C>T	7.37:g.1976422G>A	ENSP00000385334:p.Arg570*					MAD1L1_ENST00000402746.1_Nonsense_Mutation_p.R478*|MAD1L1_ENST00000265854.7_Nonsense_Mutation_p.R570*|MAD1L1_ENST00000399654.2_Nonsense_Mutation_p.R570*	p.R570*			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	17	2265	-		Ovarian(82;0.0272)	570					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Nonsense_Mutation	SNP	ENST00000406869.1	37	c.1708C>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	44	10.547994	0.99425	0.0	1.19E-4	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000437877	.	.	.	4.77	3.82	0.43975	.	0.399810	0.26650	N	0.023214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-29.0411	9.4963	0.38991	0.0:0.0:0.6583:0.3417	.	.	.	.	X	478;570;570;121;570;121;26	.	ENSP00000265854:R570X	R	-	1	2	MAD1L1	1942948	0.979000	0.34478	0.887000	0.34795	0.656000	0.38851	2.669000	0.46825	2.199000	0.70637	0.555000	0.69702	CGA		0.692	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		8	11	0	0	0	1	0	8	11				
OPCML	4978	broad.mit.edu	37	11	132306088	132306088	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:132306088G>A	ENST00000331898.7	-	6	1407	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	OPCML_ENST00000374778.4_Missense_Mutation_p.R236C|OPCML_ENST00000524381.1_Missense_Mutation_p.R270C|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.R277C	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	277	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTGGACATGCGGCCTTTGTTT	0.463																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(829-831)Cgc>Tgc		opioid binding protein/cell adhesion molecule-like							161.0	146.0	151.0					11																	132306088		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132306088G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.829C>T	11.37:g.132306088G>A	ENSP00000330862:p.Arg277Cys					OPCML_ENST00000524381.1_Missense_Mutation_p.R270C|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.R277C|OPCML_ENST00000374778.4_Missense_Mutation_p.R236C	p.R277C	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	6	1407	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	277			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.829C>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781903	0.49891	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.306181	0.37669	N	0.001991	T	0.62307	0.2417	L	0.41824	1.3	0.47621	D	0.999478	B;B;B;B	0.20780	0.048;0.005;0.02;0.02	B;B;B;B	0.17098	0.017;0.01;0.017;0.017	T	0.55945	-0.8060	10	0.46703	T	0.11	-4.2775	19.8961	0.96958	0.0:0.0:1.0:0.0	.	277;270;276;277	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	C	277;270;236;244;277	ENSP00000330862:R277C;ENSP00000434750:R270C;ENSP00000363910:R236C;ENSP00000445496:R277C	ENSP00000330862:R277C	R	-	1	0	OPCML	131811298	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.548000	0.67255	2.803000	0.96430	0.650000	0.86243	CGC		0.463	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		29	62	0	0	0	1	0	29	62				
SNAPC4	6621	broad.mit.edu	37	9	139273254	139273254	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139273254G>T	ENST00000298532.2	-	21	3393	c.3025C>A	c.(3025-3027)Ctg>Atg	p.L1009M		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCGGGGCCCAGGGCAGGGGCT	0.682																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(3025-3027)Ctg>Atg		small nuclear RNA activating complex, polypeptide 4, 190kDa							9.0	13.0	12.0					9																	139273254		2181	4278	6459	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139273254G>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.3025C>A	9.37:g.139273254G>T	ENSP00000298532:p.Leu1009Met						p.L1009M	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	3393	-		Myeloproliferative disorder(178;0.0511)	1009			Pro-rich.			Missense_Mutation	SNP	ENST00000298532.2	37	c.3025C>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606886	0.28623	.	.	ENSG00000165684	ENST00000298532	T	0.25749	1.78	3.12	1.18	0.20946	.	6.235870	0.00669	U	0.000629	T	0.40979	0.1139	L	0.48642	1.525	0.09310	N	1	D	0.69078	0.997	D	0.63597	0.916	T	0.10917	-1.0609	10	0.35671	T	0.21	-0.1363	6.0572	0.19819	0.3967:0.0:0.6033:0.0	.	1009	Q5SXM2	SNPC4_HUMAN	M	1009	ENSP00000298532:L1009M	ENSP00000298532:L1009M	L	-	1	2	SNAPC4	138393075	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-0.174000	0.09839	0.066000	0.16515	0.462000	0.41574	CTG		0.682	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		11	21	1	0	0.00010058	1	0.000102688	11	21				
KLKB1	3818	broad.mit.edu	37	4	187159508	187159508	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:187159508T>C	ENST00000264690.6	+	6	774	c.587T>C	c.(586-588)cTt>cCt	p.L196P	KLKB1_ENST00000513864.1_Missense_Mutation_p.L196P	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	196					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CCCTGTGCCCTTTCAGAAATT	0.498																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(586-588)cTt>cCt		kallikrein B, plasma (Fletcher factor) 1							102.0	93.0	96.0					4																	187159508		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187159508T>C	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.587T>C	4.37:g.187159508T>C	ENSP00000264690:p.Leu196Pro					KLKB1_ENST00000513864.1_Missense_Mutation_p.L196P	p.L196P	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	6	774	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	196					A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.587T>C	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.90|15.90	2.968992|2.968992	0.53614|0.53614	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.88354	.|-2.37;-2.32	4.97|4.97	-0.688|-0.688	0.11317|0.11317	.|.	.|0.649809	.|0.14390	.|N	.|0.322590	D|D	0.89746|0.89746	0.6804|0.6804	L|L	0.55213|0.55213	1.73|1.73	0.30646|0.30646	N|N	0.755933|0.755933	.|D;P	.|0.69078	.|0.997;0.938	.|D;P	.|0.62955	.|0.909;0.548	D|D	0.84444|0.84444	0.0584|0.0584	5|10	.|0.66056	.|D	.|0.02	.|.	6.295|6.295	0.21081|0.21081	0.2492:0.0:0.3183:0.4326|0.2492:0.0:0.3183:0.4326	.|.	.|158;196	.|E7EQA8;P03952	.|.;KLKB1_HUMAN	L|P	244|196;196;158	.|ENSP00000264690:L196P;ENSP00000424469:L196P	.|ENSP00000264690:L196P	F|L	+|+	1|2	0|0	KLKB1|KLKB1	187396502|187396502	0.001000|0.001000	0.12720|0.12720	0.232000|0.232000	0.24009|0.24009	0.982000|0.982000	0.71751|0.71751	-0.427000|-0.427000	0.06999|0.06999	-0.207000|-0.207000	0.10187|0.10187	0.528000|0.528000	0.53228|0.53228	TTT|CTT		0.498	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		32	45	0	0	0	1	0	32	45				
MICAL2	9645	broad.mit.edu	37	11	12246317	12246317	+	Silent	SNP	C	C	T	rs182608997	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:12246317C>T	ENST00000256194.4	+	13	1926	c.1638C>T	c.(1636-1638)cgC>cgT	p.R546R	MICAL2_ENST00000342902.5_Silent_p.R546R|MICAL2_ENST00000379612.3_Silent_p.R546R|MICAL2_ENST00000527546.1_Silent_p.R546R|MICAL2_ENST00000537344.1_Silent_p.R546R	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	546	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CATCCTGGCGCAGTGGGTTGG	0.637																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1636-1638)cgC>cgT		microtubule associated monooxygenase, calponin and LIM domain containing 2							108.0	89.0	95.0					11																	12246317		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12246317C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1638C>T	11.37:g.12246317C>T						MICAL2_ENST00000342902.5_Silent_p.R546R|MICAL2_ENST00000379612.3_Silent_p.R546R|MICAL2_ENST00000537344.1_Silent_p.R546R|MICAL2_ENST00000527546.1_Silent_p.R546R	p.R546R	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	13	1926	+			546			CH.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.1638C>T	CCDS7809.1																																																																																				0.637	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		32	23	0	0	0	1	0	32	23				
RNF186	54546	broad.mit.edu	37	1	20141295	20141295	+	Silent	SNP	G	G	A	rs201262383		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:20141295G>A	ENST00000375121.2	-	1	476	c.300C>T	c.(298-300)cgC>cgT	p.R100R	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	100						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCATGGTCGCGCAGGCTGC	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17036	0.0		0.0	False		,,,				2504	0.0					ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(298-300)cgC>cgT		ring finger protein 186		G		1,4403		0,1,2201	38.0	42.0	40.0		300	-11.4	0.1	1		40	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RNF186	NM_019062.1		0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		100/228	20141295	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	54546					integral to membrane	zinc ion binding	g.chr1:20141295G>A		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.300C>T	1.37:g.20141295G>A						RP11-91K11.2_ENST00000454736.1_RNA	p.R100R	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	476	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	100					Q53GE0	Silent	SNP	ENST00000375121.2	37	c.300C>T	CCDS199.1																																																																																				0.667	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		33	53	0	0	0	1	0	33	53				
CDHR2	54825	broad.mit.edu	37	5	176004718	176004718	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176004718G>A	ENST00000510636.1	+	14	1705	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	CDHR2_ENST00000506348.1_Silent_p.R477R|CDHR2_ENST00000261944.5_Silent_p.R477R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	477	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATGACCACAGGCCCACGTTTC	0.607																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1429-1431)agG>agA		cadherin-related family member 2							103.0	90.0	94.0					5																	176004718		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176004718G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1431G>A	5.37:g.176004718G>A						CDHR2_ENST00000506348.1_Silent_p.R477R|CDHR2_ENST00000261944.5_Silent_p.R477R	p.R477R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			14	1705	+			477			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.1431G>A	CCDS34297.1																																																																																				0.607	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		27	59	0	0	0	1	0	27	59				
OR1A1	8383	broad.mit.edu	37	17	3119791	3119791	+	Missense_Mutation	SNP	C	C	T	rs371610534		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:3119791C>T	ENST00000304094.1	+	1	877	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293W(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTGAGAAATCGGGACATGAA	0.468																																						ENST00000304094.1																			2	Substitution - Missense(2)	p.R293W(2)	large_intestine(1)|skin(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(877-879)Cgg>Tgg		olfactory receptor, family 1, subfamily A, member 1		C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	109.0	104.0	106.0		877	1.9	0.1	17		106	0,8600		0,0,4300	no	missense	OR1A1	NM_014565.2	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	293/310	3119791	3,13003	2203	4300	6503	SO:0001583	missense	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119791C>T	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.877C>T	17.37:g.3119791C>T	ENSP00000305207:p.Arg293Trp						p.R293W	NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN			1	877	+			293					A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	c.877C>T	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	C	6.227	0.409970	0.11812	6.81E-4	0.0	ENSG00000172146	ENST00000304094	T	0.39997	1.05	5.05	1.9	0.25705	.	0.547245	0.15536	N	0.257203	T	0.44953	0.1318	M	0.78637	2.42	0.09310	N	1	B	0.21753	0.06	B	0.11329	0.006	T	0.46596	-0.9180	10	0.87932	D	0	.	13.0249	0.58808	0.552:0.448:0.0:0.0	.	293	Q9P1Q5	OR1A1_HUMAN	W	293	ENSP00000305207:R293W	ENSP00000305207:R293W	R	+	1	2	OR1A1	3066541	0.000000	0.05858	0.135000	0.22099	0.303000	0.27691	-1.829000	0.01701	0.287000	0.22375	-0.428000	0.05917	CGG		0.468	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		56	92	0	0	0	1	0	56	92				
RASSF7	8045	broad.mit.edu	37	11	563280	563280	+	Missense_Mutation	SNP	C	C	A	rs566009663	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:563280C>A	ENST00000397583.3	+	4	1347	c.914C>A	c.(913-915)cCg>cAg	p.P305Q	MIR210HG_ENST00000500447.1_lincRNA|RASSF7_ENST00000454668.2_Missense_Mutation_p.P305Q|RASSF7_ENST00000397582.3_Missense_Mutation_p.P305Q|RASSF7_ENST00000344375.4_Missense_Mutation_p.P305Q|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000431809.1_Missense_Mutation_p.P305Q	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	305	Pro-rich.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGCTGCCACCGCCCCCACGG	0.682																																					Pancreas(184;1170 3913 7268)	ENST00000397583.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8						c.(913-915)cCg>cAg		Ras association (RalGDS/AF-6) domain family (N-terminal) member 7							20.0	22.0	21.0					11																	563280		2202	4299	6501	SO:0001583	missense	8045				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding	g.chr11:563280C>A	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"""chromosome 11 open reading frame 13"""	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.914C>A	11.37:g.563280C>A	ENSP00000380713:p.Pro305Gln					RASSF7_ENST00000454668.2_Missense_Mutation_p.P305Q|RASSF7_ENST00000431809.1_Missense_Mutation_p.P305Q|RASSF7_ENST00000397582.3_Missense_Mutation_p.P305Q|RASSF7_ENST00000344375.4_Missense_Mutation_p.P305Q	p.P305Q	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	1347	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	305			Pro-rich.		G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	ENST00000397583.3	37	c.914C>A	CCDS7702.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321104	0.60634	.	.	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.48	3.07	2.15	0.27550	.	0.688144	0.13191	N	0.406743	T	0.31295	0.0792	L	0.51422	1.61	0.09310	N	0.999999	P;P;P	0.49862	0.873;0.929;0.873	P;P;P	0.49922	0.504;0.519;0.626	T	0.12066	-1.0562	10	0.12430	T	0.62	13.6336	7.8012	0.29176	0.0:0.79:0.0:0.21	.	305;305;305	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	Q	305	ENSP00000403068:P305Q;ENSP00000380712:P305Q;ENSP00000344226:P305Q;ENSP00000380713:P305Q;ENSP00000405606:P305Q	ENSP00000344226:P305Q	P	+	2	0	RASSF7	553280	0.000000	0.05858	0.002000	0.10522	0.331000	0.28603	0.209000	0.17435	0.496000	0.27904	0.462000	0.41574	CCG		0.682	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		7	14	1	0	2.0095e-06	1	2.08067e-06	7	14				
RNPEPL1	57140	broad.mit.edu	37	2	241517019	241517019	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:241517019T>C	ENST00000270357.4	+	11	1788	c.1195T>C	c.(1195-1197)Tca>Cca	p.S399P	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	399					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCTGCAGATGTCACGCATGTA	0.697																																						ENST00000270357.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(1195-1197)Tca>Cca		arginyl aminopeptidase (aminopeptidase B)-like 1							41.0	47.0	45.0					2																	241517019		2189	4289	6478	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241517019T>C			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1195T>C	2.37:g.241517019T>C	ENSP00000270357:p.Ser399Pro					RNPEPL1_ENST00000464550.1_3'UTR	p.S399P	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	11	1788	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	399					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.1195T>C		.	.	.	.	.	.	.	.	.	.	t	20.7	4.042319	0.75732	.	.	ENSG00000142327	ENST00000270357;ENST00000437406	T;T	0.44482	0.92;0.92	4.42	4.42	0.53409	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	L	0.57536	1.79	0.53005	D	0.999968	D;D	0.76494	0.999;0.976	D;P	0.87578	0.998;0.864	T	0.61720	-0.7005	10	0.72032	D	0.01	-6.6606	11.6129	0.51072	0.0:0.0:0.0:1.0	.	305;399	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	P	399;152	ENSP00000270357:S399P;ENSP00000403319:S152P	ENSP00000270357:S399P	S	+	1	0	RNPEPL1	241165692	1.000000	0.71417	0.997000	0.53966	0.856000	0.48823	5.596000	0.67570	1.639000	0.50556	0.478000	0.44815	TCA		0.697	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		26	31	0	0	0	1	0	26	31				
RTKN2	219790	broad.mit.edu	37	10	63995969	63995969	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:63995969G>A	ENST00000373789.3	-	6	638	c.542C>T	c.(541-543)aCa>aTa	p.T181I	RTKN2_ENST00000315289.2_5'UTR|RTKN2_ENST00000395265.1_Missense_Mutation_p.T181I	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	181					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AGATTCTTCTGTACAGCAACT	0.348																																						ENST00000373789.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(541-543)aCa>aTa		rhotekin 2							109.0	95.0	99.0					10																	63995969		2203	4299	6502	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63995969G>A	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.542C>T	10.37:g.63995969G>A	ENSP00000362894:p.Thr181Ile					RTKN2_ENST00000315289.2_5'UTR|RTKN2_ENST00000395265.1_Missense_Mutation_p.T181I	p.T181I	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			6	638	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		181					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.542C>T	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	G	8.077	0.771548	0.16051	.	.	ENSG00000182010	ENST00000395265;ENST00000373789	T;T	0.47177	0.85;0.85	5.56	2.72	0.32119	.	0.710584	0.14359	N	0.324597	T	0.27629	0.0679	N	0.12182	0.205	0.20307	N	0.999917	B	0.09022	0.002	B	0.08055	0.003	T	0.17289	-1.0374	10	0.30854	T	0.27	-0.2127	8.9962	0.36055	0.3561:0.0:0.6439:0.0	.	181	Q8IZC4	RTKN2_HUMAN	I	181	ENSP00000378682:T181I;ENSP00000362894:T181I	ENSP00000362894:T181I	T	-	2	0	RTKN2	63665975	0.345000	0.24835	0.993000	0.49108	0.971000	0.66376	0.614000	0.24314	0.306000	0.22856	0.491000	0.48974	ACA		0.348	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		18	41	0	0	0	1	0	18	41				
TIMM10B	26515	broad.mit.edu	37	11	6503065	6503065	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:6503065G>T	ENST00000254616.6	+	2	188	c.118G>T	c.(118-120)Gct>Tct	p.A40S	TIMM10B_ENST00000472836.1_Missense_Mutation_p.A40S|ARFIP2_ENST00000396777.3_5'Flank|TIMM10B_ENST00000530751.1_Intron|ARFIP2_ENST00000445086.2_5'Flank|ARFIP2_ENST00000525235.1_5'Flank|ARFIP2_ENST00000254584.2_5'Flank|ARFIP2_ENST00000423813.2_5'Flank	NM_012192.3	NP_036324.1	Q9Y5J6	T10B_HUMAN	translocase of inner mitochondrial membrane 10 homolog B (yeast)	40					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	metal ion binding (GO:0046872)										GCACCACCGAGCTCTGGACGC	0.572																																						ENST00000254616.6																			0											c.(118-120)Gct>Tct		translocase of inner mitochondrial membrane 10 homolog B (yeast)							72.0	67.0	69.0					11																	6503065		2201	4296	6497	SO:0001583	missense	26515							g.chr11:6503065G>T	AF150105	CCDS7766.1	11p15.4	2012-12-07	2012-12-07	2012-12-07	ENSG00000132286	ENSG00000132286			4022	protein-coding gene	gene with protein product		607388	"""fracture callus 1 (rat) homolog"", ""fracture callus 1 homolog (rat)"""	FXC1		10552927	Standard	NM_012192		Approved	Tim9b, TIM10B	uc001mdn.4	Q9Y5J6	OTTHUMG00000133400	ENST00000254616.6:c.118G>T	11.37:g.6503065G>T	ENSP00000254616:p.Ala40Ser					TIMM10B_ENST00000530751.1_Intron|TIMM10B_ENST00000472836.1_Missense_Mutation_p.A40S	p.A40S	NM_012192.3	NP_036324.1					2	188	+								Q96FF3	Missense_Mutation	SNP	ENST00000254616.6	37	c.118G>T	CCDS7766.1	.	.	.	.	.	.	.	.	.	.	G	7.655	0.683722	0.14907	.	.	ENSG00000132286	ENST00000254616;ENST00000533379	T;T	0.61627	0.09;0.09	5.82	2.91	0.33838	.	0.208527	0.49305	D	0.000143	T	0.21921	0.0528	N	0.01656	-0.775	0.80722	D	1	B	0.21905	0.062	B	0.23716	0.048	T	0.04307	-1.0961	10	0.08381	T	0.77	-14.3477	4.022	0.09670	0.1283:0.1308:0.606:0.1349	.	40	Q9Y5J6	TIM9B_HUMAN	S	40	ENSP00000254616:A40S;ENSP00000436948:A40S	ENSP00000254616:A40S	A	+	1	0	FXC1	6459641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.652000	0.54439	0.357000	0.24183	0.563000	0.77884	GCT		0.572	TIMM10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257257.2	NM_012192		29	42	1	0	2.12542e-12	1	2.26763e-12	29	42				
ALPK3	57538	broad.mit.edu	37	15	85383002	85383002	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:85383002A>G	ENST00000258888.5	+	5	1265	c.1098A>G	c.(1096-1098)tcA>tcG	p.S366S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	366	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGTCCTGCTCAGGGGTCCTGG	0.607																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1096-1098)tcA>tcG		alpha-kinase 3							77.0	69.0	72.0					15																	85383002		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383002A>G	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1098A>G	15.37:g.85383002A>G							p.S366S	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1265	+			366			Ig-like 1.		Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.1098A>G	CCDS10333.1																																																																																				0.607	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		44	64	0	0	0	1	0	44	64				
ASXL2	55252	broad.mit.edu	37	2	25990452	25990452	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:25990452T>C	ENST00000435504.4	-	8	1068	c.775A>G	c.(775-777)Aga>Gga	p.R259G	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000336112.4_Splice_Site_p.R231G|ASXL2_ENST00000497092.1_5'Flank			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	259					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.R259*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAACTTACTGGTATGGAGT	0.373																																						ENST00000435504.4																			1	Substitution - Nonsense(1)	p.R259*(1)	urinary_tract(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.e8+1		additional sex combs like 2 (Drosophila)							106.0	101.0	103.0					2																	25990452		1859	4096	5955	SO:0001630	splice_region_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25990452T>C			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.775+1A>G	2.37:g.25990452T>C						ASXL2_ENST00000336112.4_Splice_Site_p.R231_splice|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR	p.R259_splice			Q76L83	ASXL2_HUMAN			8	1068	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		259					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Splice_Site	SNP	ENST00000435504.4	37	c.775_splice		.	.	.	.	.	.	.	.	.	.	T	8.683	0.905551	0.17760	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.17054	2.3;2.3	5.53	3.1	0.35709	.	0.049112	0.85682	D	0.000000	T	0.13415	0.0325	L	0.36672	1.1	0.80722	D	1	B	0.13594	0.008	B	0.18561	0.022	T	0.08785	-1.0705	9	.	.	.	-5.2202	11.6856	0.51483	0.0:0.0:0.2814:0.7186	.	259	Q76L83	ASXL2_HUMAN	G	259;231	ENSP00000391447:R259G;ENSP00000337250:R231G	.	R	-	1	2	ASXL2	25843956	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.413000	0.44618	0.369000	0.24510	0.533000	0.62120	AGA		0.373	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	Missense_Mutation	15	29	0	0	0	1	0	15	29				
SIM1	6492	broad.mit.edu	37	6	100896035	100896035	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:100896035G>A	ENST00000369208.3	-	8	1619	c.837C>T	c.(835-837)tgC>tgT	p.C279C	SIM1_ENST00000262901.4_Silent_p.C279C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	279	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AATGGTGCGCGCAGCGCAGGT	0.622																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(835-837)tgC>tgT		single-minded family bHLH transcription factor 1							105.0	78.0	87.0					6																	100896035		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100896035G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.837C>T	6.37:g.100896035G>A						SIM1_ENST00000262901.4_Silent_p.C279C	p.C279C			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	8	1619	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	279			PAS 2.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.837C>T	CCDS5045.1																																																																																				0.622	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		12	28	0	0	0	1	0	12	28				
TBC1D17	79735	broad.mit.edu	37	19	50381767	50381767	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:50381767C>A	ENST00000221543.5	+	3	432	c.133C>A	c.(133-135)Ctc>Atc	p.L45I	AKT1S1_ENST00000344175.5_5'Flank|AKT1S1_ENST00000391832.3_5'Flank|AKT1S1_ENST00000482622.1_5'Flank|TBC1D17_ENST00000535102.2_Missense_Mutation_p.L12I|AKT1S1_ENST00000391834.2_5'Flank|TBC1D17_ENST00000598789.1_3'UTR|AKT1S1_ENST00000391831.1_5'Flank|AKT1S1_ENST00000391835.1_5'Flank	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	45					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CAATGACGTCCTCCTGCACTG	0.537																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(133-135)Ctc>Atc		TBC1 domain family, member 17							91.0	87.0	89.0					19																	50381767		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50381767C>A	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.133C>A	19.37:g.50381767C>A	ENSP00000221543:p.Leu45Ile					TBC1D17_ENST00000598789.1_3'UTR|TBC1D17_ENST00000535102.2_Missense_Mutation_p.L12I	p.L45I	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	432	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	45					B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.133C>A	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	C	5.414	0.261511	0.10239	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.28895	1.59;1.59	5.82	-1.06	0.10002	Domain of unknown function DUF3548 (1);	0.433182	0.25183	N	0.032503	T	0.10121	0.0248	N	0.10685	0.025	0.21933	N	0.999466	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.19976	-1.0289	10	0.15066	T	0.55	-15.933	2.5758	0.04806	0.2624:0.4641:0.1172:0.1563	.	12;45	F5H1W7;Q9HA65	.;TBC17_HUMAN	I	45;12	ENSP00000221543:L45I;ENSP00000446323:L12I	ENSP00000221543:L45I	L	+	1	0	TBC1D17	55073579	0.000000	0.05858	0.793000	0.32043	0.887000	0.51463	-1.610000	0.02064	0.073000	0.16731	0.561000	0.74099	CTC		0.537	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		36	36	1	0	6.1244e-12	1	6.52625e-12	36	36				
FBXW5	54461	broad.mit.edu	37	9	139836499	139836499	+	Splice_Site	SNP	G	G	A	rs557711640		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139836499G>A	ENST00000325285.3	-	6	1174	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	365					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGGGTGTACCGATCTGGTGTG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16020	0.0		0.0	False		,,,				2504	0.001					ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.e6+1		F-box and WD repeat domain containing 5							92.0	104.0	100.0					9																	139836499		2194	4298	6492	SO:0001630	splice_region_variant	54461						catalytic activity|protein binding	g.chr9:139836499G>A	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1096+1C>T	9.37:g.139836499G>A						FBXW5_ENST00000483559.1_5'UTR	p.I365_splice	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	6	1174	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	365					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Splice_Site	SNP	ENST00000325285.3	37	c.1096_splice	CCDS7014.1																																																																																				0.662	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998	Silent	8	18	0	0	0	1	0	8	18				
CFAP43	80217	broad.mit.edu	37	10	105957717	105957717	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:105957717G>A	ENST00000278064.2	-	9	1293	c.968C>T	c.(967-969)gCa>gTa	p.A323V	WDR96_ENST00000369720.1_Missense_Mutation_p.A323V|WDR96_ENST00000357060.3_Missense_Mutation_p.A392V|WDR96_ENST00000428666.1_Missense_Mutation_p.A393V																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGTCAATTGCCTGAAATTT	0.343																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(1174-1176)gCa>gTa		WD repeat domain 96							115.0	108.0	111.0					10																	105957717		2202	4300	6502	SO:0001583	missense	80217							g.chr10:105957717G>A																												ENST00000278064.2:c.968C>T	10.37:g.105957717G>A	ENSP00000278064:p.Ala323Val					WDR96_ENST00000369720.1_Missense_Mutation_p.A323V|WDR96_ENST00000278064.2_Missense_Mutation_p.A323V|WDR96_ENST00000428666.1_Missense_Mutation_p.A393V	p.A392V	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			9	1290	-			392						Missense_Mutation	SNP	ENST00000278064.2	37	c.1175C>T		.	.	.	.	.	.	.	.	.	.	G	16.39	3.110781	0.56398	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720	T;T;T;T	0.32272	1.49;1.49;1.49;1.46	5.88	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.161988	0.29438	N	0.012147	T	0.53867	0.1823	M	0.72894	2.215	0.36670	D	0.878442	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.964	T	0.59348	-0.7471	10	0.48119	T	0.1	.	14.4301	0.67243	0.0733:0.0:0.9267:0.0	.	393;392	B4DHB6;Q8NDM7	.;WDR96_HUMAN	V	392;393;323;323	ENSP00000349568:A392V;ENSP00000400289:A393V;ENSP00000278064:A323V;ENSP00000358734:A323V	ENSP00000278064:A323V	A	-	2	0	WDR96	105947707	1.000000	0.71417	0.655000	0.29622	0.104000	0.19210	3.877000	0.56123	2.788000	0.95919	0.650000	0.86243	GCA		0.343	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			38	27	0	0	0	1	0	38	27				
BBS1	582	broad.mit.edu	37	11	66298469	66298469	+	Silent	SNP	G	G	A	rs373397428		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:66298469G>A	ENST00000318312.7	+	15	1629	c.1578G>A	c.(1576-1578)gcG>gcA	p.A526A	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Silent_p.A429A|BBS1_ENST00000393994.2_Silent_p.A397A|CTD-3074O7.11_ENST00000419755.3_Silent_p.A563A	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	526					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						ACAACGAGGCGCTCTATTCCC	0.587									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1687-1689)gcG>gcA				G		1,4399	2.1+/-5.4	0,1,2199	170.0	140.0	150.0		1578	-3.8	0.5	11		150	0,8590		0,0,4295	no	coding-synonymous	BBS1	NM_024649.4		0,1,6494	AA,AG,GG		0.0,0.0227,0.0077		526/594	66298469	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66298469G>A	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1578G>A	11.37:g.66298469G>A						BBS1_ENST00000455748.2_Silent_p.A429A|BBS1_ENST00000393994.2_Silent_p.A397A|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000318312.7_Silent_p.A526A	p.A563A							15	1767	+								Q32MM9|Q32MN0|Q96SN4	Silent	SNP	ENST00000318312.7	37	c.1689G>A	CCDS8142.1																																																																																				0.587	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			29	43	0	0	0	1	0	29	43				
CUBN	8029	broad.mit.edu	37	10	17126304	17126304	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:17126304T>C	ENST00000377833.4	-	17	2332	c.2267A>G	c.(2266-2268)cAa>cGa	p.Q756R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	756	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTCTGGCATTGCAGCTCCAC	0.443																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(2266-2268)cAa>cGa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						166.0	154.0	158.0					10																	17126304		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17126304T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2267A>G	10.37:g.17126304T>C	ENSP00000367064:p.Gln756Arg						p.Q756R	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			17	2332	-			756			CUB 3.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2267A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013758	0.35511	.	.	ENSG00000107611	ENST00000377833	T	0.27890	1.64	5.69	4.35	0.52113	CUB (5);	0.156867	0.29515	N	0.011940	T	0.20210	0.0486	N	0.17082	0.46	0.80722	D	1	B	0.25390	0.125	B	0.27380	0.079	T	0.05131	-1.0904	10	0.72032	D	0.01	.	9.6375	0.39819	0.0:0.098:0.0:0.902	.	756	O60494	CUBN_HUMAN	R	756	ENSP00000367064:Q756R	ENSP00000367064:Q756R	Q	-	2	0	CUBN	17166310	1.000000	0.71417	0.776000	0.31678	0.234000	0.25298	4.527000	0.60573	0.981000	0.38548	0.533000	0.62120	CAA		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		38	41	0	0	0	1	0	38	41				
NFE2L3	9603	broad.mit.edu	37	7	26192151	26192151	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:26192151C>T	ENST00000056233.3	+	1	292	c.33C>T	c.(31-33)ggC>ggT	p.G11G		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	11					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGTCGGCCGGCGGCGGCCTCC	0.756																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(31-33)ggC>ggT		nuclear factor, erythroid 2-like 3							8.0	10.0	9.0					7																	26192151		1904	3860	5764	SO:0001819	synonymous_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26192151C>T	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.33C>T	7.37:g.26192151C>T							p.G11G	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			1	292	+			11					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	c.33C>T	CCDS5396.1																																																																																				0.756	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			13	17	0	0	0	1	0	13	17				
KIAA1211L	343990	broad.mit.edu	37	2	99439573	99439573	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:99439573G>A	ENST00000397899.2	-	7	1494	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	388	Pro-rich.																CACCTCCTCCGCCTTGTCCGT	0.751																																						ENST00000397899.2																			0											c.(1162-1164)gCg>gTg		KIAA1211-like							8.0	10.0	9.0					2																	99439573		1844	4011	5855	SO:0001583	missense	343990							g.chr2:99439573G>A	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.1163C>T	2.37:g.99439573G>A	ENSP00000380996:p.Ala388Val						p.A388V	NM_207362.2	NP_997245.2					7	1494	-									Missense_Mutation	SNP	ENST00000397899.2	37	c.1163C>T	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962816	0.34659	.	.	ENSG00000196872	ENST00000397899	T	0.49139	0.79	5.23	2.11	0.27256	.	0.460606	0.18521	N	0.138775	T	0.34395	0.0896	L	0.53249	1.67	0.09310	N	1	B	0.31318	0.319	B	0.23852	0.049	T	0.16719	-1.0393	10	0.35671	T	0.21	-0.7101	4.495	0.11833	0.0942:0.1631:0.5955:0.1472	.	388	Q6NV74	CB055_HUMAN	V	388	ENSP00000380996:A388V	ENSP00000380996:A388V	A	-	2	0	C2orf55	98806005	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.508000	0.06344	0.553000	0.29044	0.555000	0.69702	GCG		0.751	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		15	14	0	0	0	1	0	15	14				
DOCK4	9732	broad.mit.edu	37	7	111423966	111423966	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:111423966G>A	ENST00000437633.1	-	33	3700	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G	DOCK4_ENST00000494651.2_Silent_p.G31G|DOCK4_ENST00000428084.1_Silent_p.G1157G	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1148					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTAATGAAACGCCACTTTCCC	0.408																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(3469-3471)ggC>ggT		dedicator of cytokinesis 4							96.0	89.0	91.0					7																	111423966		1844	4086	5930	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111423966G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3444C>T	7.37:g.111423966G>A						DOCK4_ENST00000437633.1_Silent_p.G1148G|DOCK4_ENST00000494651.2_Silent_p.G31G	p.G1157G			Q8N1I0	DOCK4_HUMAN			34	3743	-		Acute lymphoblastic leukemia(1;0.0441)	1148			DHR-2.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.3471C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	0.315	-0.965616	0.02249	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	4.77	0.888	0.19206	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41270	-0.9518	4	.	.	.	.	6.5591	0.22476	0.3418:0.1203:0.5379:0.0	.	.	.	.	V	609;1181	.	.	A	-	2	0	DOCK4	111211202	0.140000	0.22579	0.998000	0.56505	0.152000	0.21847	-0.630000	0.05502	0.049000	0.15920	-0.140000	0.14226	GCG		0.408	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	7	0	0	0	1	0	6	7				
B4GALNT2	124872	broad.mit.edu	37	17	47243577	47243577	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:47243577G>T	ENST00000300404.2	+	9	1295	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.E326D|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.E352D	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	412					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAAGATTGAGGTGCTGGTGG	0.502																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1234-1236)gaG>gaT		beta-1,4-N-acetyl-galactosaminyl transferase 2							121.0	103.0	109.0					17																	47243577		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47243577G>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1236G>T	17.37:g.47243577G>T	ENSP00000300404:p.Glu412Asp					B4GALNT2_ENST00000504681.1_Missense_Mutation_p.E326D|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.E352D	p.E412D	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		9	1295	+			412					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1236G>T	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562879	0.65538	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.68025	-0.3;-0.3;-0.3	5.8	2.59	0.31030	Glycosyl transferase, family 2 (1);	0.061106	0.64402	D	0.000006	T	0.71143	0.3305	M	0.70595	2.14	0.38536	D	0.94909	D;P	0.65815	0.995;0.898	P;P	0.57548	0.823;0.567	T	0.71879	-0.4459	10	0.62326	D	0.03	-40.4794	4.2843	0.10848	0.3227:0.1605:0.5168:0.0	.	352;412	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	D	326;352;412	ENSP00000425510:E326D;ENSP00000377022:E352D;ENSP00000300404:E412D	ENSP00000300404:E412D	E	+	3	2	B4GALNT2	44598576	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	2.271000	0.43364	0.795000	0.33922	0.655000	0.94253	GAG		0.502	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		31	38	1	0	5.77227e-19	1	6.33577e-19	31	38				
ABL2	27	broad.mit.edu	37	1	179078368	179078368	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:179078368C>T	ENST00000502732.1	-	12	2237	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q	ABL2_ENST00000504405.1_Silent_p.Q642Q|ABL2_ENST00000344730.3_Silent_p.Q663Q|ABL2_ENST00000408940.3_Silent_p.Q642Q|ABL2_ENST00000367623.4_Silent_p.Q657Q|ABL2_ENST00000511413.1_Silent_p.Q678Q|ABL2_ENST00000507173.1_Silent_p.Q657Q|ABL2_ENST00000512653.1_Silent_p.Q663Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	678					actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCTTATGGGGCTGATTCTCCA	0.512			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(2032-2034)caG>caA		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						199.0	212.0	208.0					1																	179078368		2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179078368C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2034G>A	1.37:g.179078368C>T						ABL2_ENST00000504405.1_Silent_p.Q642Q|ABL2_ENST00000344730.3_Silent_p.Q663Q|ABL2_ENST00000511413.1_Silent_p.Q678Q|ABL2_ENST00000367623.4_Silent_p.Q657Q|ABL2_ENST00000408940.3_Silent_p.Q642Q|ABL2_ENST00000507173.1_Silent_p.Q657Q|ABL2_ENST00000512653.1_Silent_p.Q663Q	p.Q678Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			12	2237	-			678					A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.2034G>A	CCDS30947.1																																																																																				0.512	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		86	179	0	0	0	1	0	86	179				
ZNF785	146540	broad.mit.edu	37	16	30594122	30594122	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:30594122A>G	ENST00000395216.2	-	3	1136	c.977T>C	c.(976-978)cTc>cCc	p.L326P	ZNF785_ENST00000470110.1_Missense_Mutation_p.L311P|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						ACTGAGGAGGAGGGAAGAATA	0.647																																						ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(976-978)cTc>cCc		zinc finger protein 785							53.0	60.0	58.0					16																	30594122		2197	4300	6497	SO:0001583	missense	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594122A>G	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.977T>C	16.37:g.30594122A>G	ENSP00000378642:p.Leu326Pro					AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.L311P	p.L326P	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN			3	1136	-			326					O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	c.977T>C	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	a	12.18	1.860408	0.32884	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.61158	0.13;0.13	3.7	-2.03	0.07365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50411	0.1614	L	0.45698	1.435	0.21386	N	0.999706	B;P;B	0.40515	0.03;0.719;0.05	B;P;B	0.48304	0.015;0.573;0.033	T	0.42865	-0.9426	9	0.30854	T	0.27	.	2.8737	0.05625	0.2659:0.4823:0.1029:0.149	.	291;326;311	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	P	311;291;326	ENSP00000420340:L311P;ENSP00000378642:L326P	ENSP00000378642:L326P	L	-	2	0	ZNF785	30501623	0.000000	0.05858	0.059000	0.19551	0.578000	0.36192	-1.370000	0.02575	-0.657000	0.05373	0.372000	0.22366	CTC		0.647	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		42	61	0	0	0	1	0	42	61				
C11orf65	160140	broad.mit.edu	37	11	108332220	108332220	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:108332220A>G	ENST00000529391.1	-	1	76	c.67T>C	c.(67-69)Tgg>Cgg	p.W23R	C11orf65_ENST00000525729.1_Missense_Mutation_p.W23R|C11orf65_ENST00000393084.1_Missense_Mutation_p.W23R			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	23										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		AAACTTTTCCAGGCCTGCTGA	0.308																																						ENST00000525729.1																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10						c.(67-69)Tgg>Cgg		chromosome 11 open reading frame 65							74.0	83.0	80.0					11																	108332220		2201	4298	6499	SO:0001583	missense	160140							g.chr11:108332220A>G	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.67T>C	11.37:g.108332220A>G	ENSP00000436400:p.Trp23Arg					C11orf65_ENST00000393084.1_Missense_Mutation_p.W23R|C11orf65_ENST00000529391.1_Missense_Mutation_p.W23R	p.W23R			Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	2	136	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	23					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.67T>C	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458738	0.63401	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583	T;T;T	0.38560	1.13;1.13;1.13	4.36	4.36	0.52297	.	0.150689	0.47852	D	0.000202	T	0.59542	0.2201	M	0.65975	2.015	0.35032	D	0.75886	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71210	-0.4660	10	0.87932	D	0	-3.7866	10.2419	0.43316	1.0:0.0:0.0:0.0	.	23;23	B4DZU4;Q8NCR3	.;CK065_HUMAN	R	23	ENSP00000436400:W23R;ENSP00000376799:W23R;ENSP00000434500:W23R	ENSP00000376799:W23R	W	-	1	0	C11orf65	107837430	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.570000	0.53834	2.192000	0.70111	0.528000	0.53228	TGG		0.308	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		63	83	0	0	0	1	0	63	83				
FAM53B	9679	broad.mit.edu	37	10	126311887	126311887	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:126311887C>A	ENST00000337318.3	-	5	1404	c.1193G>T	c.(1192-1194)cGg>cTg	p.R398L	FAM53B_ENST00000392754.3_Missense_Mutation_p.R398L|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	398										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CCCGCGGTCCCGCCAGGCTGC	0.672																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(1192-1194)cGg>cTg		family with sequence similarity 53, member B							24.0	27.0	26.0					10																	126311887		2193	4282	6475	SO:0001583	missense	9679							g.chr10:126311887C>A	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1193G>T	10.37:g.126311887C>A	ENSP00000338532:p.Arg398Leu					FAM53B_ENST00000392754.3_Missense_Mutation_p.R398L|RP11-12J10.3_ENST00000494792.1_Intron	p.R398L	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1404	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	398					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1193G>T	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741746	0.30865	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.08	4.18	0.49190	.	0.371283	0.24766	N	0.035772	T	0.48484	0.1502	L	0.44542	1.39	0.80722	D	1	B	0.30281	0.275	B	0.28465	0.09	T	0.52260	-0.8599	9	0.72032	D	0.01	-23.0554	11.0667	0.47979	0.0:0.9148:0.0:0.0852	.	398	Q14153	FA53B_HUMAN	L	398	.	ENSP00000338532:R398L	R	-	2	0	FAM53B	126301877	0.105000	0.21958	1.000000	0.80357	0.065000	0.16274	0.365000	0.20348	1.367000	0.46095	-0.140000	0.14226	CGG		0.672	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		65	42	1	0	2.79145e-41	1	3.15884e-41	65	42				
EI24	9538	broad.mit.edu	37	11	125453541	125453541	+	Missense_Mutation	SNP	C	C	T	rs371870792		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:125453541C>T	ENST00000278903.6	+	12	1225	c.983C>T	c.(982-984)cCg>cTg	p.P328L	STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_3'UTR|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	329					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCACCGCATCCGTCGCCTGCC	0.547																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(982-984)cCg>cTg		etoposide induced 2.4		C	,LEU/PRO	1,3863		0,1,1931	42.0	40.0	41.0		,985	5.2	0.5	11		41	0,8254		0,0,4127	no	utr-3,missense	EI24	NM_001007277.1,NM_004879.3	,98	0,1,6058	TT,TC,CC		0.0,0.0259,0.0083	,	,329/341	125453541	1,12117	1932	4127	6059	SO:0001583	missense	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125453541C>T	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.983C>T	11.37:g.125453541C>T	ENSP00000278903:p.Pro328Leu					EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_3'UTR	p.P328L	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	12	1225	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	329					A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000278903.6	37	c.983C>T		.	.	.	.	.	.	.	.	.	.	C	13.90	2.375888	0.42105	2.59E-4	0.0	ENSG00000149547	ENST00000278903	.	.	.	5.21	5.21	0.72293	.	0.450573	0.24980	N	0.034064	T	0.54481	0.1861	.	.	.	0.80722	D	1	B;B	0.27971	0.0;0.196	B;B	0.12156	0.0;0.007	T	0.52975	-0.8503	8	0.42905	T	0.14	.	18.3797	0.90446	0.0:1.0:0.0:0.0	.	315;329	B4DKL6;O14681	.;EI24_HUMAN	L	328	.	ENSP00000278903:P328L	P	+	2	0	EI24	124958751	0.985000	0.35326	0.452000	0.26994	0.957000	0.61999	3.073000	0.50057	2.440000	0.82611	0.655000	0.94253	CCG		0.547	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		14	9	0	0	0	1	0	14	9				
MFI2	4241	broad.mit.edu	37	3	196730857	196730857	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:196730857T>C	ENST00000296350.5	-	15	2165	c.2052A>G	c.(2050-2052)ggA>ggG	p.G684G	MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000424769.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	684	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGGTTTTCTCTCCGACAGGCA	0.607																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(2050-2052)ggA>ggG		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							218.0	235.0	229.0					3																	196730857		2203	4300	6503	SO:0001819	synonymous_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196730857T>C		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.2052A>G	3.37:g.196730857T>C						MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	p.G684G	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	15	2165	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		684			Transferrin-like 2.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.2052A>G	CCDS3325.1																																																																																				0.607	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			184	242	0	0	0	1	0	184	242				
APOBEC3F	200316	broad.mit.edu	37	22	39441204	39441204	+	Missense_Mutation	SNP	G	G	A	rs199693357		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:39441204G>A	ENST00000308521.5	+	3	787	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	144					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					AGGGGCCCGCGTGAAGATTAT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		16780	0.0		0.001	False		,,,				2504	0.0					ENST00000308521.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(430-432)Gtg>Atg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F		G	MET/VAL	0,4406		0,0,2203	43.0	45.0	45.0		430	-2.6	0.0	22		45	3,8597		0,3,4297	yes	missense	APOBEC3F	NM_145298.5	21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	144/374	39441204	3,13003	2203	4300	6503	SO:0001583	missense	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39441204G>A	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.430G>A	22.37:g.39441204G>A	ENSP00000309749:p.Val144Met					APOBEC3G_ENST00000452957.2_Intron	p.V144M	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN			3	787	+	Melanoma(58;0.04)		149					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	c.430G>A	CCDS33648.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	6.110	0.388635	0.11581	0.0	3.49E-4	ENSG00000128394	ENST00000308521	T	0.69685	-0.42	2.27	-2.57	0.06248	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.62295	0.2416	N	0.25380	0.74	0.09310	N	0.999997	D	0.76494	0.999	D	0.70487	0.969	T	0.55976	-0.8055	9	0.13470	T	0.59	.	7.1346	0.25521	0.1303:0.5839:0.2857:0.0	.	144	Q8IUX4	ABC3F_HUMAN	M	144	ENSP00000309749:V144M	ENSP00000309749:V144M	V	+	1	0	APOBEC3F	37771150	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.480000	0.06559	-0.367000	0.08052	0.400000	0.26472	GTG		0.597	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		36	51	0	0	0	1	0	36	51				
MANSC1	54682	broad.mit.edu	37	12	12483294	12483294	+	Silent	SNP	C	C	T	rs146158847	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:12483294C>T	ENST00000535902.1	-	4	1526	c.963G>A	c.(961-963)ccG>ccA	p.P321P	MANSC1_ENST00000545735.1_Silent_p.P240P|MANSC1_ENST00000396349.3_Silent_p.P287P			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	321	Thr-rich.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTTCTGTAAACGGTATGGTTT	0.458													C|||	20	0.00399361	0.0106	0.0086	5008	,	,		22640	0.0		0.0	False		,,,				2504	0.0					ENST00000535902.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(961-963)ccG>ccA		MANSC domain containing 1		C		26,4380	32.6+/-62.9	1,24,2178	130.0	122.0	124.0		963	-5.9	0.0	12	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MANSC1	NM_018050.2		1,25,6477	TT,TC,CC		0.0116,0.5901,0.2076		321/432	12483294	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	54682					integral to membrane		g.chr12:12483294C>T	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.963G>A	12.37:g.12483294C>T						MANSC1_ENST00000545735.1_Silent_p.P240P|MANSC1_ENST00000396349.3_Silent_p.P287P	p.P321P			Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	1526	-		Prostate(47;0.0865)	321			Thr-rich.		Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	c.963G>A	CCDS8648.1																																																																																				0.458	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		44	87	0	0	0	1	0	44	87				
CNGB1	1258	broad.mit.edu	37	16	57918264	57918264	+	Missense_Mutation	SNP	C	C	T	rs543712958	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:57918264C>T	ENST00000251102.8	-	33	3620	c.3560G>A	c.(3559-3561)cGg>cAg	p.R1187Q	CNGB1_ENST00000564448.1_Missense_Mutation_p.R1181Q	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1187					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGGGGCGTCCGGGGCGCGGG	0.741													C|||	9	0.00179712	0.0	0.0	5008	,	,		8868	0.0		0.0	False		,,,				2504	0.0092				Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(3541-3543)cGg>cAg		cyclic nucleotide gated channel beta 1							11.0	14.0	13.0					16																	57918264		1773	3907	5680	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57918264C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3560G>A	16.37:g.57918264C>T	ENSP00000251102:p.Arg1187Gln					CNGB1_ENST00000251102.8_Missense_Mutation_p.R1187Q	p.R1181Q			Q14028	CNGB1_HUMAN			33	3602	-			1187					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3542G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	1.992	-0.431459	0.04669	.	.	ENSG00000070729	ENST00000251102	D	0.96396	-4.0	2.74	-4.0	0.04057	.	1.022700	0.07867	N	0.967290	D	0.87034	0.6077	N	0.08118	0	0.18873	N	0.999983	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.78145	-0.2318	10	0.13853	T	0.58	.	5.7555	0.18170	0.0:0.313:0.2121:0.475	.	559;1187	Q14028-2;Q14028	.;CNGB1_HUMAN	Q	1187	ENSP00000251102:R1187Q	ENSP00000251102:R1187Q	R	-	2	0	CNGB1	56475765	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.720000	0.04969	-0.839000	0.04212	-2.538000	0.00180	CGG		0.741	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		19	35	0	0	0	1	0	19	35				
RIMS2	9699	broad.mit.edu	37	8	104898136	104898136	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:104898136A>G	ENST00000436393.2	+	2	884	c.643A>G	c.(643-645)Agg>Ggg	p.R215G	RIMS2_ENST00000406091.3_Missense_Mutation_p.R437G|RIMS2_ENST00000262231.10_Missense_Mutation_p.R245G|RIMS2_ENST00000507740.1_Missense_Mutation_p.R245G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	468					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCCTACCCCCAGGAGGAGTCC	0.468										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(733-735)Agg>Ggg		regulating synaptic membrane exocytosis 2							85.0	80.0	82.0					8																	104898136		1919	4142	6061	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898136A>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.643A>G	8.37:g.104898136A>G	ENSP00000390665:p.Arg215Gly	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.R215G|RIMS2_ENST00000262231.10_Missense_Mutation_p.R245G|RIMS2_ENST00000406091.3_Missense_Mutation_p.R437G	p.R245G	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	969	+			468					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.733A>G		.	.	.	.	.	.	.	.	.	.	A	15.65	2.896920	0.52121	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.19669	2.13;2.62;2.2;2.28;2.26;2.19;2.59	5.65	3.79	0.43588	.	.	.	.	.	T	0.34513	0.0900	L	0.46157	1.445	0.80722	D	1	P;P;P;D;D	0.67145	0.761;0.764;0.746;0.996;0.967	B;B;P;P;P	0.59424	0.346;0.248;0.548;0.857;0.817	T	0.04840	-1.0923	9	0.62326	D	0.03	.	13.8351	0.63404	0.5785:0.4215:0.0:0.0	.	468;215;245;245;437	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	G	437;468;437;468;245;245;245;245;215	ENSP00000427018:R437G;ENSP00000384892:R437G;ENSP00000425205:R245G;ENSP00000262231:R245G;ENSP00000423559:R245G;ENSP00000386228:R245G;ENSP00000390665:R215G	ENSP00000262231:R245G	R	+	1	2	RIMS2	104967312	0.702000	0.27816	0.950000	0.38849	0.858000	0.48976	2.119000	0.41958	0.678000	0.31325	-0.286000	0.09958	AGG		0.468	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		12	110	0	0	0	1	0	12	110				
ATAD2	29028	broad.mit.edu	37	8	124382167	124382167	+	Missense_Mutation	SNP	A	A	T	rs149531312	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:124382167A>T	ENST00000287394.5	-	7	932	c.825T>A	c.(823-825)gaT>gaA	p.D275E	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	275	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcatcatcatcatcat	0.378													A|||	11	0.00219649	0.0008	0.0043	5008	,	,		17887	0.002		0.002	False		,,,				2504	0.0031					ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(823-825)gaT>gaA		ATPase family, AAA domain containing 2		A	GLU/ASP	10,4396	11.4+/-27.6	0,10,2193	257.0	196.0	216.0		825	-2.7	0.1	8	dbSNP_134	216	4,8596	3.7+/-12.6	0,4,4296	no	missense	ATAD2	NM_014109.3	45	0,14,6489	TT,TA,AA		0.0465,0.227,0.1076	benign	275/1391	124382167	14,12992	2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382167A>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.825T>A	8.37:g.124382167A>T	ENSP00000287394:p.Asp275Glu					ATAD2_ENST00000521903.1_5'UTR	p.D275E	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	932	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		275			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.825T>A	CCDS6343.1	6	0.0027472527472527475	5	0.01016260162601626	0	0.0	1	0.0017482517482517483	0	0.0	A	0	-2.611228	0.00120	0.00227	4.65E-4	ENSG00000156802	ENST00000287394	T	0.25912	1.77	1.38	-2.69	0.06022	.	1.170220	0.05820	N	0.615542	T	0.08492	0.0211	L	0.29908	0.895	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.50398	-0.8833	10	0.02654	T	1	.	1.3801	0.02228	0.3901:0.0:0.2745:0.3354	.	105;275	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	E	275	ENSP00000287394:D275E	ENSP00000287394:D275E	D	-	3	2	ATAD2	124451348	0.985000	0.35326	0.093000	0.20910	0.064000	0.16182	-0.967000	0.03821	-0.205000	0.10219	0.402000	0.26972	GAT		0.378	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		17	18	0	0	0	1	0	17	18				
MFN1	55669	broad.mit.edu	37	3	179107816	179107816	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:179107816C>T	ENST00000471841.1	+	17	2163	c.2037C>T	c.(2035-2037)cgC>cgT	p.R679R	MFN1_ENST00000280653.7_Silent_p.R568R|MFN1_ENST00000263969.5_Silent_p.R679R	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	679					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTTTGCTCGCCTGTGCCAAC	0.299																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(2035-2037)cgC>cgT		mitofusin 1							60.0	64.0	63.0					3																	179107816		2203	4299	6502	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179107816C>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.2037C>T	3.37:g.179107816C>T						MFN1_ENST00000263969.5_Silent_p.R679R|MFN1_ENST00000280653.7_Silent_p.R568R	p.R679R	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		17	2163	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		679					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.2037C>T	CCDS3228.1																																																																																				0.299	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		10	17	0	0	0	1	0	10	17				
TSTD2	158427	broad.mit.edu	37	9	100367047	100367047	+	Missense_Mutation	SNP	T	T	C	rs544945853		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:100367047T>C	ENST00000341170.4	-	9	1596	c.1214A>G	c.(1213-1215)gAa>gGa	p.E405G	TSTD2_ENST00000354801.2_Missense_Mutation_p.E145G	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	405										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGCATAGCGTTCATCAAAAAC	0.468													T|||	1	0.000199681	0.0008	0.0	5008	,	,		22508	0.0		0.0	False		,,,				2504	0.0					ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1213-1215)gAa>gGa		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							135.0	119.0	124.0					9																	100367047		2203	4300	6503	SO:0001583	missense	158427							g.chr9:100367047T>C	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1214A>G	9.37:g.100367047T>C	ENSP00000342499:p.Glu405Gly					TSTD2_ENST00000375172.2_Missense_Mutation_p.E179G|TSTD2_ENST00000354801.2_Missense_Mutation_p.E145G|TSTD2_ENST00000375165.1_Missense_Mutation_p.E145G	p.E405G	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			9	1596	-			405					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	c.1214A>G	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	T	13.67	2.306230	0.40795	.	.	ENSG00000136925	ENST00000375172;ENST00000341170;ENST00000375165;ENST00000354801	T;T;T	0.32272	1.46;1.46;1.46	4.3	4.3	0.51218	Rhodanese-like (2);	0.165523	0.52532	D	0.000075	T	0.27241	0.0668	L	0.56280	1.765	0.40867	D	0.983886	B;B	0.10296	0.0;0.003	B;B	0.08055	0.001;0.003	T	0.11591	-1.0581	10	0.45353	T	0.12	-7.9182	8.3699	0.32408	0.0:0.0901:0.0:0.9099	.	179;405	B3KVC7;Q5T7W7	.;TSTD2_HUMAN	G	179;405;145;145	ENSP00000342499:E405G;ENSP00000364308:E145G;ENSP00000346856:E145G	ENSP00000342499:E405G	E	-	2	0	TSTD2	99406868	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	3.696000	0.54757	1.947000	0.56498	0.460000	0.39030	GAA		0.468	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		49	66	0	0	0	1	0	49	66				
FANCE	2178	broad.mit.edu	37	6	35424067	35424067	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:35424067C>T	ENST00000229769.2	+	2	977	c.792C>T	c.(790-792)gaC>gaT	p.D264D		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	264	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CTGGCGAGGACGGTTCGAATC	0.498			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(790-792)gaC>gaT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E							148.0	140.0	142.0					6																	35424067		2203	4300	6503	SO:0001819	synonymous_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35424067C>T	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.792C>T	6.37:g.35424067C>T							p.D264D	NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN			2	977	+			264			Interaction with FANCC.		A8K907|Q4ZGH2	Silent	SNP	ENST00000229769.2	37	c.792C>T	CCDS4805.1																																																																																				0.498	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			94	222	0	0	0	1	0	94	222				
CALCR	799	broad.mit.edu	37	7	93106930	93106930	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:93106930G>A	ENST00000394441.1	-	4	571	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S	CALCR_ENST00000360249.4_Missense_Mutation_p.P86S|CALCR_ENST00000421592.1_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S|CALCR_ENST00000359558.2_Missense_Mutation_p.P104S	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	104					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ACTCCAGCCGGTGTGTCATCC	0.418																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(310-312)Ccg>Tcg		calcitonin receptor	Salmon Calcitonin(DB00017)						91.0	79.0	83.0					7																	93106930		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93106930G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.256C>T	7.37:g.93106930G>A	ENSP00000377959:p.Pro86Ser					CALCR_ENST00000421592.1_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S|CALCR_ENST00000394441.1_Missense_Mutation_p.P86S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S	p.P104S	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		6	609	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		86					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.310C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113971	0.77210	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.06	4.06	0.47325	.	.	.	.	.	T	0.64204	0.2577	L	0.39147	1.195	0.80722	D	1	P;P	0.42649	0.537;0.786	B;P	0.51297	0.236;0.665	T	0.60068	-0.7335	9	0.27785	T	0.31	.	16.1994	0.82060	0.0:0.0:1.0:0.0	.	104;86	F5H605;A4D1G6	.;.	S	104;86;86;86;86;86	ENSP00000352561:P104S;ENSP00000353385:P86S;ENSP00000399552:P86S;ENSP00000377959:P86S;ENSP00000389295:P86S	ENSP00000352561:P104S	P	-	1	0	CALCR	92944866	1.000000	0.71417	0.877000	0.34402	0.658000	0.38924	5.934000	0.70138	2.544000	0.85801	0.557000	0.71058	CCG		0.418	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		25	32	0	0	0	1	0	25	32				
PRNP	5621	broad.mit.edu	37	20	4680506	4680506	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:4680506T>G	ENST00000379440.4	+	2	927	c.640T>G	c.(640-642)Tgt>Ggt	p.C214G	PRNP_ENST00000430350.2_Missense_Mutation_p.C214G	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TGAGCAGATGTGTATCACCCA	0.522																																						ENST00000379440.4																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						c.(640-642)Tgt>Ggt		prion protein	Tetracycline(DB00759)						155.0	131.0	140.0					20																	4680506		2203	4300	6503	SO:0001583	missense	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680506T>G	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.640T>G	20.37:g.4680506T>G	ENSP00000368752:p.Cys214Gly					PRNP_ENST00000430350.2_Missense_Mutation_p.C214G	p.C214G	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN			2	927	+			214			Interaction with GRB2, ERI3 and SYN1 (By similarity).			Missense_Mutation	SNP	ENST00000379440.4	37	c.640T>G	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.421290	0.62622	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.99773	-6.72;-6.72;-6.72;-3.66	5.63	5.63	0.86233	Prion/Doppel protein, beta-ribbon domain (4);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	M	0.82517	2.595	0.58432	D	0.999999	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97358	0.9968	10	0.87932	D	0	-17.164	12.2259	0.54459	0.0:0.0:0.0:1.0	.	214;214;246	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	G	214;214;214;153;214	ENSP00000368752:C214G;ENSP00000399376:C214G;ENSP00000411599:C214G;ENSP00000415284:C214G	ENSP00000368752:C214G	C	+	1	0	PRNP	4628506	1.000000	0.71417	0.998000	0.56505	0.788000	0.44548	4.611000	0.61162	2.144000	0.66660	0.533000	0.62120	TGT		0.522	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		67	36	0	0	0	1	0	67	36				
DHX34	9704	broad.mit.edu	37	19	47856557	47856557	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47856557C>A	ENST00000328771.4	+	2	619	c.270C>A	c.(268-270)atC>atA	p.I90I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	90					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCACAGCATCCCAGCGCTGG	0.587																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(268-270)atC>atA		DEAH (Asp-Glu-Ala-His) box polypeptide 34							111.0	109.0	109.0					19																	47856557		2203	4300	6503	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47856557C>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.270C>A	19.37:g.47856557C>A							p.I90I	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	2	619	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	90					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.270C>A	CCDS12700.1																																																																																				0.587	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		54	105	1	0	6.176e-18	1	6.71171e-18	54	105				
HECTD4	283450	broad.mit.edu	37	12	112621993	112621993	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:112621993C>T	ENST00000430131.2	-	60	10656	c.9511G>A	c.(9511-9513)Gag>Aag	p.E3171K	HECTD4_ENST00000377560.5_Missense_Mutation_p.E3421K|HECTD4_ENST00000550722.1_Missense_Mutation_p.E3447K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3171					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCTGTTACCTCCACGACTGCG	0.527																																						ENST00000550722.1																			0											c.(10339-10341)Gag>Aag		HECT domain containing E3 ubiquitin protein ligase 4							100.0	113.0	109.0					12																	112621993		1909	4116	6025	SO:0001583	missense	283450							g.chr12:112621993C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9511G>A	12.37:g.112621993C>T	ENSP00000404379:p.Glu3171Lys					HECTD4_ENST00000430131.2_Missense_Mutation_p.E3171K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E3421K	p.E3447K	NM_001109662.3	NP_001103132.3					61	10734	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.10339G>A		.	.	.	.	.	.	.	.	.	.	C	28.6	4.934498	0.92458	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.55234	0.53;0.54;0.53	5.4	5.4	0.78164	.	.	.	.	.	T	0.60209	0.2251	N	0.19112	0.55	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	T	0.65162	-0.6235	9	0.87932	D	0	.	19.5504	0.95315	0.0:1.0:0.0:0.0	.	3171	Q9Y4D8	K0614_HUMAN	K	3421;3171;3447	ENSP00000366783:E3421K;ENSP00000404379:E3171K;ENSP00000449784:E3447K	ENSP00000366783:E3421K	E	-	1	0	C12orf51	111106376	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.249000	0.78278	2.688000	0.91661	0.655000	0.94253	GAG		0.527	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		121	165	0	0	0	1	0	121	165				
WDR62	284403	broad.mit.edu	37	19	36574054	36574054	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:36574054A>G	ENST00000270301.7	+	11	1461	c.1461A>G	c.(1459-1461)acA>acG	p.T487T	WDR62_ENST00000401500.2_Silent_p.T487T			O43379	WDR62_HUMAN	WD repeat domain 62	487					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAATGGGACACCCATGGACG	0.602																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(1459-1461)acA>acG		WD repeat domain 62							57.0	51.0	53.0					19																	36574054		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36574054A>G	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1461A>G	19.37:g.36574054A>G						WDR62_ENST00000270301.7_Silent_p.T487T	p.T487T	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		11	1496	+	Esophageal squamous(110;0.162)		487					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.1461A>G	CCDS33001.1																																																																																				0.602	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		4	14	0	0	0	1	0	4	14				
IFNW1	3467	broad.mit.edu	37	9	21141286	21141286	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:21141286C>T	ENST00000380229.2	-	1	858	c.284G>A	c.(283-285)cGc>cAc	p.R95H		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	95			R -> S (in dbSNP:rs2230055).		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGCAGAGGAGCGCTCTGTGTG	0.557																																						ENST00000380229.2																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(283-285)cGc>cAc		interferon, omega 1							89.0	86.0	87.0					9																	21141286		2203	4300	6503	SO:0001583	missense	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141286C>T		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"""Interferons"""	5448	protein-coding gene	gene with protein product	"""IFN-omega 1, interferon omega-1"""	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.284G>A	9.37:g.21141286C>T	ENSP00000369578:p.Arg95His						p.R95H	NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	858	-			95		R -> S (in dbSNP:rs2230055).			Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP	ENST00000380229.2	37	c.284G>A	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825542	0.32237	.	.	ENSG00000177047	ENST00000380229	T	0.03441	3.93	4.54	-6.97	0.01616	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.767260	0.02616	N	0.102690	T	0.02807	0.0084	L	0.37630	1.12	0.09310	N	1	B	0.26935	0.164	B	0.19666	0.026	T	0.39121	-0.9629	10	0.30078	T	0.28	.	3.0022	0.06017	0.1055:0.1575:0.2256:0.5113	.	95	P05000	IFNW1_HUMAN	H	95	ENSP00000369578:R95H	ENSP00000369578:R95H	R	-	2	0	IFNW1	21131286	0.000000	0.05858	0.000000	0.03702	0.540000	0.34992	-2.191000	0.01246	-1.121000	0.02949	-1.446000	0.01064	CGC		0.557	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		42	64	0	0	0	1	0	42	64				
GNB1L	54584	broad.mit.edu	37	22	19776481	19776481	+	Silent	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:19776481C>G	ENST00000329517.6	-	8	971	c.735G>C	c.(733-735)gtG>gtC	p.V245V	GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Silent_p.V245V	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	245					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GAGTCCCACGCACCTGTGAGA	0.642																																						ENST00000329517.6																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(733-735)gtG>gtC		guanine nucleotide binding protein (G protein), beta polypeptide 1-like							51.0	55.0	54.0					22																	19776481		2202	4300	6502	SO:0001819	synonymous_variant	0				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19776481C>G	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.735G>C	22.37:g.19776481C>G						GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Silent_p.V245V	p.V245V	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN			8	971	-	Colorectal(54;0.0993)		245					Q9H2S2|Q9H4M4	Silent	SNP	ENST00000329517.6	37	c.735G>C	CCDS13768.1																																																																																				0.642	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			26	58	0	0	0	1	0	26	58				
MCF2L	23263	broad.mit.edu	37	13	113729502	113729502	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:113729502C>T	ENST00000375608.3	+	12	1455	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	MCF2L_ENST00000375597.4_Splice_Site_p.T434M|MCF2L_ENST00000397030.1_Splice_Site_p.T469M|MCF2L_ENST00000375604.2_Splice_Site_p.T493M|MCF2L_ENST00000442652.2_Splice_Site_p.T466M|MCF2L_ENST00000423482.2_Splice_Site_p.T434M|MCF2L_ENST00000535094.2_Splice_Site_p.T436M|MCF2L_ENST00000375601.3_Splice_Site_p.T440M|MCF2L_ENST00000421756.1_Splice_Site_p.T440M|MCF2L_ENST00000434480.2_Splice_Site_p.T442M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	466					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGCCTGGAGACGGTAGGCCGA	0.687																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.e11+1		MCF.2 cell line derived transforming sequence-like							16.0	19.0	18.0					13																	113729502		2200	4297	6497	SO:0001630	splice_region_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113729502C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1398+1C>T	13.37:g.113729502C>T						MCF2L_ENST00000434480.2_Splice_Site_p.T442_splice|MCF2L_ENST00000442652.2_Splice_Site_p.T466_splice|MCF2L_ENST00000375597.4_Splice_Site_p.T434_splice|MCF2L_ENST00000421756.1_Splice_Site_p.T440_splice|MCF2L_ENST00000375608.3_Splice_Site_p.T466_splice|MCF2L_ENST00000375604.2_Splice_Site_p.T493_splice|MCF2L_ENST00000535094.2_Splice_Site_p.T436_splice|MCF2L_ENST00000375601.3_Splice_Site_p.T440_splice|MCF2L_ENST00000423482.2_Splice_Site_p.T434_splice	p.T469_splice			O15068	MCF2L_HUMAN			11	1443	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	466					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Splice_Site	SNP	ENST00000375608.3	37	c.1407_splice		.	.	.	.	.	.	.	.	.	.	C	12.59	1.982394	0.34942	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.05	1.88	0.25563	.	0.288004	0.36815	N	0.002394	T	0.11239	0.0274	N	0.16478	0.41	0.42671	D	0.993518	B;B;B;B;B;B	0.23377	0.03;0.012;0.03;0.084;0.003;0.017	B;B;B;B;B;B	0.16722	0.01;0.01;0.016;0.007;0.01;0.007	T	0.10520	-1.0626	10	0.54805	T	0.06	.	6.8862	0.24202	0.5873:0.3167:0.0:0.0961	.	434;436;493;398;434;466	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	M	466;466;493;469;436;440;440;442;434;434;277	ENSP00000364758:T466M;ENSP00000401422:T466M;ENSP00000364754:T493M;ENSP00000380225:T469M;ENSP00000440374:T436M;ENSP00000397285:T440M;ENSP00000364751:T440M;ENSP00000407722:T442M;ENSP00000405639:T434M;ENSP00000364747:T434M	ENSP00000364747:T434M	T	+	2	0	MCF2L	112777503	1.000000	0.71417	0.996000	0.52242	0.691000	0.40173	1.997000	0.40786	0.493000	0.27837	0.555000	0.69702	ACG		0.687	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		Missense_Mutation	11	14	0	0	0	1	0	11	14				
NTN3	4917	broad.mit.edu	37	16	2522735	2522735	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2522735G>A	ENST00000293973.1	+	2	1165	c.962G>A	c.(961-963)cGc>cAc	p.R321H	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	321	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CGCCGCTGCCGCTTCAACATG	0.692																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(961-963)cGc>cAc		netrin 3							43.0	52.0	49.0					16																	2522735		2158	4240	6398	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522735G>A	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.962G>A	16.37:g.2522735G>A	ENSP00000293973:p.Arg321His						p.R321H	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			2	1165	+			321			Laminin EGF-like 2.			Missense_Mutation	SNP	ENST00000293973.1	37	c.962G>A	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482415	0.63962	.	.	ENSG00000162068	ENST00000293973	T	0.61274	0.12	4.52	4.52	0.55395	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.56890	-0.7904	10	0.10636	T	0.68	.	14.7499	0.69516	0.0:0.0:1.0:0.0	.	321	O00634	NET3_HUMAN	H	321	ENSP00000293973:R321H	ENSP00000293973:R321H	R	+	2	0	NTN3	2462736	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.804000	0.85993	2.073000	0.62155	0.305000	0.20034	CGC		0.692	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		61	85	0	0	0	1	0	61	85				
AKR1B15	441282	broad.mit.edu	37	7	134252969	134252969	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:134252969C>T	ENST00000457545.2	+	4	470	c.210C>T	c.(208-210)caC>caT	p.H70H	AKR1B15_ENST00000423958.1_Silent_p.H42H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	70							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AATATCGCCACATTGACTGTG	0.453																																						ENST00000457545.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(208-210)caC>caT		aldo-keto reductase family 1, member B15							108.0	111.0	110.0					7																	134252969		2203	4300	6503	SO:0001819	synonymous_variant	441282						oxidoreductase activity	g.chr7:134252969C>T		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.210C>T	7.37:g.134252969C>T						AKR1B15_ENST00000423958.1_Silent_p.H42H	p.H70H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN			4	470	+			70					C9J3V2	Silent	SNP	ENST00000457545.2	37	c.210C>T	CCDS47715.2																																																																																				0.453	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			40	52	0	0	0	1	0	40	52				
AHDC1	27245	broad.mit.edu	37	1	27877512	27877512	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:27877512C>G	ENST00000247087.5	-	5	1711	c.1115G>C	c.(1114-1116)gGc>gCc	p.G372A	AHDC1_ENST00000374011.2_Missense_Mutation_p.G372A			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	372	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCGGGGGGGCCGTGCGGTGA	0.697																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1114-1116)gGc>gCc		AT hook, DNA binding motif, containing 1							6.0	7.0	7.0					1																	27877512		2062	4016	6078	SO:0001583	missense	27245						DNA binding	g.chr1:27877512C>G	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1115G>C	1.37:g.27877512C>G	ENSP00000247087:p.Gly372Ala					AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.G372A	p.G372A	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	2083	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	372			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.1115G>C	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324115	0.60634	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.50277	0.75;0.75	5.58	4.66	0.58398	.	0.359172	0.19861	U	0.104440	T	0.30008	0.0751	N	0.14661	0.345	0.32867	D	0.508718	P	0.50819	0.939	B	0.41412	0.356	T	0.35126	-0.9801	10	0.36615	T	0.2	-16.2296	11.0195	0.47709	0.0:0.9126:0.0:0.0874	.	372	Q5TGY3	AHDC1_HUMAN	A	372	ENSP00000247087:G372A;ENSP00000363123:G372A	ENSP00000247087:G372A	G	-	2	0	AHDC1	27750099	0.940000	0.31905	0.998000	0.56505	0.979000	0.70002	3.405000	0.52630	2.630000	0.89119	0.591000	0.81541	GGC		0.697	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			11	15	0	0	0	1	0	11	15				
COL5A3	50509	broad.mit.edu	37	19	10078753	10078753	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:10078753A>G	ENST00000264828.3	-	60	4402	c.4317T>C	c.(4315-4317)ggT>ggC	p.G1439G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1439	Collagen-like 6.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GACCAGGGGGACCCTAGGAAA	0.582																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4315-4317)ggT>ggC		collagen, type V, alpha 3							49.0	46.0	47.0					19																	10078753		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10078753A>G	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4317T>C	19.37:g.10078753A>G							p.G1439G	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		60	4402	-			1439			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.4317T>C	CCDS12222.1																																																																																				0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		37	52	0	0	0	1	0	37	52				
ZNF408	79797	broad.mit.edu	37	11	46724534	46724534	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:46724534C>T	ENST00000311764.2	+	4	623	c.393C>T	c.(391-393)agC>agT	p.S131S	ARHGAP1_ENST00000311956.4_5'Flank	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTTTGCAGCTTGGTACAAC	0.577																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e4-1		zinc finger protein 408							83.0	76.0	79.0					11																	46724534		2201	4299	6500	SO:0001630	splice_region_variant	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46724534C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.393-1C>T	11.37:g.46724534C>T							p.S131_splice	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			4	623	+			131						Splice_Site	SNP	ENST00000311764.2	37	c.392_splice	CCDS7923.1																																																																																				0.577	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741	Silent	30	39	0	0	0	1	0	30	39				
TOB2	10766	broad.mit.edu	37	22	41833282	41833282	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:41833282C>T	ENST00000327492.3	-	2	774	c.68G>A	c.(67-69)cGc>cAc	p.R23H		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	23					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTCTGCCCGGCGCCGGGGCAG	0.542																																						ENST00000327492.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(67-69)cGc>cAc		transducer of ERBB2, 2							35.0	40.0	39.0					22																	41833282		2203	4300	6503	SO:0001583	missense	10766				female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		g.chr22:41833282C>T	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.68G>A	22.37:g.41833282C>T	ENSP00000331305:p.Arg23His						p.R23H	NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN			2	774	-			23					Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	c.68G>A	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304949	0.60305	.	.	ENSG00000183864	ENST00000327492;ENST00000434408	T	0.52754	0.65	5.92	4.91	0.64330	Anti-proliferative protein (2);	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.77103	2.36	0.80722	D	1	B	0.24882	0.113	B	0.20184	0.028	T	0.55528	-0.8127	10	0.87932	D	0	.	15.0674	0.72008	0.0:0.9322:0.0:0.0678	.	23	Q14106	TOB2_HUMAN	H	23	ENSP00000331305:R23H	ENSP00000331305:R23H	R	-	2	0	TOB2	40163228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	1.529000	0.49120	0.655000	0.94253	CGC		0.542	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		39	38	0	0	0	1	0	39	38				
WDR33	55339	broad.mit.edu	37	2	128471558	128471558	+	Silent	SNP	C	C	T	rs151283651		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:128471558C>T	ENST00000322313.4	-	18	3065	c.2907G>A	c.(2905-2907)ccG>ccA	p.P969P		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	969					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCTCTGACATCGGGCCCATGT	0.612																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2905-2907)ccG>ccA		WD repeat domain 33		C		1,4397		0,1,2198	22.0	27.0	25.0		2907	-9.8	0.4	2	dbSNP_134	25	0,8590		0,0,4295	no	coding-synonymous	WDR33	NM_018383.4		0,1,6493	TT,TC,CC		0.0,0.0227,0.0077		969/1337	128471558	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471558C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2907G>A	2.37:g.128471558C>T							p.P969P	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3065	-	Colorectal(110;0.1)		969					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	c.2907G>A	CCDS2150.1																																																																																				0.612	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		14	39	0	0	0	1	0	14	39				
SSX5	6758	broad.mit.edu	37	X	48047159	48047159	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:48047159T>C	ENST00000376923.1	-	6	474	c.475A>G	c.(475-477)Agg>Ggg	p.R159G	SSX5_ENST00000347757.1_Missense_Mutation_p.R159G|SSX5_ENST00000311798.1_Missense_Mutation_p.R200G			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TGTTTCCCCCTTTTGGGTCCT	0.478																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(598-600)Agg>Ggg		synovial sarcoma, X breakpoint 5							224.0	205.0	212.0					X																	48047159		2203	4297	6500	SO:0001583	missense	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48047159T>C	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.475A>G	X.37:g.48047159T>C	ENSP00000366122:p.Arg159Gly					SSX5_ENST00000347757.1_Missense_Mutation_p.R159G|SSX5_ENST00000376923.1_Missense_Mutation_p.R159G	p.R200G	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			8	650	-			159					Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.598A>G	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	12.62	1.993787	0.35131	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757;ENST00000403001	T;T;T;T	0.38887	2.66;2.66;2.66;1.11	1.67	-3.19	0.05171	SSXRD motif (1);	1.395230	0.05263	N	0.516005	T	0.47229	0.1434	L	0.47716	1.5	0.09310	N	1	D;P	0.56287	0.975;0.765	P;P	0.60286	0.872;0.615	T	0.45745	-0.9240	10	0.72032	D	0.01	.	2.8173	0.05459	0.0:0.2136:0.401:0.3854	.	159;200	O60225;O60225-2	SSX5_HUMAN;.	G	200;159;159;99	ENSP00000312415:R200G;ENSP00000366122:R159G;ENSP00000290558:R159G;ENSP00000385051:R99G	ENSP00000312415:R200G	R	-	1	2	SSX5	47932103	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	-0.059000	0.11731	-0.596000	0.05821	0.151000	0.16131	AGG		0.478	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		129	202	0	0	0	1	0	129	202				
GP2	2813	broad.mit.edu	37	16	20335435	20335435	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:20335435C>T	ENST00000381362.4	-	3	314	c.238G>A	c.(238-240)Gca>Aca	p.A80T	GP2_ENST00000381360.5_Intron|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.A80T	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	80					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGGGACCCTGCTGAGTTCTCT	0.572																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(238-240)Gca>Aca		glycoprotein 2 (zymogen granule membrane)							69.0	62.0	64.0					16																	20335435		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335435C>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.238G>A	16.37:g.20335435C>T	ENSP00000370767:p.Ala80Thr					GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.A80T	p.A80T			P55259	GP2_HUMAN			3	387	-			80					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.238G>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	7.528	0.658095	0.14645	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.98717	-5.09;-5.09	5.03	1.81	0.25067	.	.	.	.	.	D	0.92573	0.7641	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.15870	0.014;0.001	D	0.86042	0.1520	9	0.15499	T	0.54	0.7451	1.3208	0.02116	0.1787:0.4532:0.1727:0.1954	.	80;80	P55259-3;P55259	.;GP2_HUMAN	T	80	ENSP00000304044:A80T;ENSP00000370767:A80T	ENSP00000304044:A80T	A	-	1	0	GP2	20242936	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.020000	0.13466	0.693000	0.31634	-0.165000	0.13383	GCA		0.572	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		37	45	0	0	0	1	0	37	45				
GLP2R	9340	broad.mit.edu	37	17	9763352	9763352	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:9763352A>G	ENST00000262441.5	+	7	1372	c.859A>G	c.(859-861)Acg>Gcg	p.T287A	GLP2R_ENST00000574745.1_Missense_Mutation_p.T107A	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	287					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CTACCTCCACACGCTGCTGGA	0.572																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(859-861)Acg>Gcg		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						80.0	70.0	74.0					17																	9763352		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9763352A>G	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.859A>G	17.37:g.9763352A>G	ENSP00000262441:p.Thr287Ala					GLP2R_ENST00000574745.1_Missense_Mutation_p.T107A	p.T287A	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			7	1372	+			287					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.859A>G	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	A	4.643	0.119618	0.08881	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.36520	1.25	5.34	-3.78	0.04333	GPCR, family 2-like (1);	1.422570	0.05107	N	0.488161	T	0.33294	0.0858	M	0.63843	1.955	0.09310	N	1	B	0.09022	0.002	B	0.21151	0.033	T	0.42327	-0.9458	10	0.44086	T	0.13	.	6.2668	0.20932	0.616:0.0:0.1077:0.2763	.	287	O95838	GLP2R_HUMAN	A	287;262;287	ENSP00000262441:T287A	ENSP00000262441:T287A	T	+	1	0	GLP2R	9704077	0.177000	0.23109	0.000000	0.03702	0.004000	0.04260	2.228000	0.42981	-0.424000	0.07382	-0.766000	0.03442	ACG		0.572	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			11	25	0	0	0	1	0	11	25				
PDE4D	5144	broad.mit.edu	37	5	58476445	58476445	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:58476445A>T	ENST00000340635.6	-	5	959	c.784T>A	c.(784-786)Tcc>Acc	p.S262T	PDE4D_ENST00000503258.1_Missense_Mutation_p.S132T|PDE4D_ENST00000405755.2_Missense_Mutation_p.S140T|PDE4D_ENST00000502484.2_Missense_Mutation_p.S201T|PDE4D_ENST00000360047.5_Missense_Mutation_p.S126T|PDE4D_ENST00000546160.1_Missense_Mutation_p.S201T|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000502575.1_Missense_Mutation_p.S198T|PDE4D_ENST00000507116.1_Missense_Mutation_p.S198T	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	262					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TTGTTGATGGATGGTTGGTTG	0.398																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(784-786)Tcc>Acc		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						165.0	150.0	155.0					5																	58476445		1877	4112	5989	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58476445A>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.784T>A	5.37:g.58476445A>T	ENSP00000345502:p.Ser262Thr					PDE4D_ENST00000546160.1_Missense_Mutation_p.S201T|PDE4D_ENST00000507116.1_Missense_Mutation_p.S198T|PDE4D_ENST00000405755.2_Missense_Mutation_p.S140T|PDE4D_ENST00000360047.5_Missense_Mutation_p.S126T|PDE4D_ENST00000502575.1_Missense_Mutation_p.S198T|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000503258.1_Missense_Mutation_p.S132T|PDE4D_ENST00000502484.2_Missense_Mutation_p.S201T	p.S262T	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	5	959	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	262					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.784T>A	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159086	0.38119	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	T;T;T;T;T;T;T;T	0.80824	-0.16;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-1.42	5.74	5.74	0.90152	.	1.515320	0.03473	N	0.213930	D	0.84202	0.5420	N	0.16656	0.425	0.40839	D	0.983652	B;P;P;P;B;B;B;B	0.52577	0.341;0.93;0.954;0.924;0.187;0.27;0.27;0.065	B;P;D;P;B;B;B;B	0.63597	0.116;0.774;0.916;0.827;0.051;0.208;0.221;0.025	T	0.69720	-0.5069	10	0.35671	T	0.21	.	15.0089	0.71533	1.0:0.0:0.0:0.0	.	142;198;201;262;198;125;140;132	Q9HCX6;Q08499-12;Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10	.;.;.;PDE4D_HUMAN;.;.;.;.	T	262;131;126;198;132;140;201;201;198	ENSP00000345502:S262T;ENSP00000353152:S126T;ENSP00000424852:S198T;ENSP00000425605:S132T;ENSP00000384806:S140T;ENSP00000423094:S201T;ENSP00000442734:S201T;ENSP00000425917:S198T	ENSP00000308485:S198T	S	-	1	0	PDE4D	58512202	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.643000	0.54374	2.192000	0.70111	0.383000	0.25322	TCC		0.398	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			11	19	0	0	0	1	0	11	19				
CDH7	1005	broad.mit.edu	37	18	63525089	63525089	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:63525089T>G	ENST00000397968.2	+	8	1699	c.1273T>G	c.(1273-1275)Ttc>Gtc	p.F425V	CDH7_ENST00000536984.2_Missense_Mutation_p.F425V|CDH7_ENST00000323011.3_Missense_Mutation_p.F425V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	425	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAGAGATACTTCAATATTGA	0.388																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(1273-1275)Ttc>Gtc		cadherin 7, type 2							140.0	128.0	132.0					18																	63525089		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63525089T>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1273T>G	18.37:g.63525089T>G	ENSP00000381058:p.Phe425Val					CDH7_ENST00000397968.2_Missense_Mutation_p.F425V|CDH7_ENST00000323011.3_Missense_Mutation_p.F425V	p.F425V			Q9ULB5	CADH7_HUMAN			8	1967	+		Esophageal squamous(42;0.129)	425			Cadherin 4.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1273T>G	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383821	0.82792	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	D;D;D	0.83075	-1.68;-1.68;-1.68	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	0.130154	0.53938	D	0.000056	D	0.90748	0.7096	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.87578	0.969;0.998	D	0.92150	0.5727	10	0.87932	D	0	.	14.1166	0.65159	0.0:0.0:0.0:1.0	.	425;425	F5H5X9;Q9ULB5	.;CADH7_HUMAN	V	425	ENSP00000319166:F425V;ENSP00000443030:F425V;ENSP00000381058:F425V	ENSP00000319166:F425V	F	+	1	0	CDH7	61676069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	1.990000	0.58119	0.454000	0.30748	TTC		0.388	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		5	109	0	0	0	1	0	5	109				
NCOA1	8648	broad.mit.edu	37	2	24905856	24905856	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:24905856G>T	ENST00000406961.1	+	8	1043	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	NCOA1_ENST00000407230.1_5'UTR|NCOA1_ENST00000395856.3_Missense_Mutation_p.G131W|NCOA1_ENST00000288599.5_Missense_Mutation_p.G131W|NCOA1_ENST00000405141.1_Missense_Mutation_p.G131W|NCOA1_ENST00000348332.3_Missense_Mutation_p.G131W|NCOA1_ENST00000538539.1_Missense_Mutation_p.G131W			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	131	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.G131W(1)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACTGTGAAGGGAGAATTGT	0.368			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	1	Substitution - Missense(1)	p.G131W(1)	ovary(1)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(391-393)Ggg>Tgg		nuclear receptor coactivator 1							100.0	98.0	99.0					2																	24905856		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24905856G>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.391G>T	2.37:g.24905856G>T	ENSP00000385216:p.Gly131Trp					NCOA1_ENST00000348332.3_Missense_Mutation_p.G131W|NCOA1_ENST00000407230.1_5'UTR|NCOA1_ENST00000406961.1_Missense_Mutation_p.G131W|NCOA1_ENST00000288599.5_Missense_Mutation_p.G131W|NCOA1_ENST00000538539.1_Missense_Mutation_p.G131W|NCOA1_ENST00000395856.3_Missense_Mutation_p.G131W	p.G131W			Q15788	NCOA1_HUMAN			9	1102	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		131			PAS.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.391G>T	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799202	0.90538	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.55	5.55	0.83447	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85450	0.1160	10	0.87932	D	0	.	19.0969	0.93255	0.0:0.0:1.0:0.0	.	131;131;131	Q15788-3;Q15788;Q15788-2	.;NCOA1_HUMAN;.	W	131	ENSP00000385216:G131W;ENSP00000385097:G131W;ENSP00000444039:G131W;ENSP00000320940:G131W;ENSP00000288599:G131W;ENSP00000379197:G131W	ENSP00000288599:G131W	G	+	1	0	NCOA1	24759360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.616000	0.88540	0.655000	0.94253	GGG		0.368	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		18	41	1	0	2.37509e-13	1	2.54019e-13	18	41				
SCRN3	79634	broad.mit.edu	37	2	175292598	175292598	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:175292598A>G	ENST00000272732.6	+	8	1332	c.1250A>G	c.(1249-1251)aAt>aGt	p.N417S	SCRN3_ENST00000409673.3_Missense_Mutation_p.N410S|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	417							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TATCAGTCAAATTTATCAGTC	0.323																																						ENST00000272732.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13						c.(1249-1251)aAt>aGt		secernin 3							70.0	66.0	67.0					2																	175292598		2203	4295	6498	SO:0001583	missense	79634				proteolysis		dipeptidase activity	g.chr2:175292598A>G	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.1250A>G	2.37:g.175292598A>G	ENSP00000272732:p.Asn417Ser					SCRN3_ENST00000409673.3_Missense_Mutation_p.N410S|SCRN3_ENST00000548921.1_3'UTR	p.N417S	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		8	1332	+			417					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	c.1250A>G	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.094093	0.56075	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.08458	3.09;3.1	5.63	1.66	0.24008	.	0.577730	0.18418	N	0.141839	T	0.03220	0.0094	N	0.08118	0	0.09310	N	0.999999	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.002	T	0.44019	-0.9355	9	.	.	.	.	3.5872	0.07975	0.5449:0.0:0.2031:0.252	.	410;417	B4DI11;Q0VDG4	.;SCRN3_HUMAN	S	410;417	ENSP00000387142:N410S;ENSP00000272732:N417S	.	N	+	2	0	SCRN3	175000844	0.532000	0.26346	0.896000	0.35187	0.820000	0.46376	0.916000	0.28651	0.383000	0.24910	0.533000	0.62120	AAT		0.323	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		13	21	0	0	0	1	0	13	21				
FGFR2	2263	broad.mit.edu	37	10	123325123	123325123	+	Missense_Mutation	SNP	C	C	T	rs371714070		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:123325123C>T	ENST00000358487.5	-	3	477	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.V69M|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000346997.2_Missense_Mutation_p.V69M|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000351936.6_Missense_Mutation_p.V69M|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369061.4_Missense_Mutation_p.V69M|FGFR2_ENST00000359354.2_Missense_Mutation_p.V69M|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369060.4_Missense_Mutation_p.V69M|FGFR2_ENST00000369056.1_Missense_Mutation_p.V69M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	69	Ig-like C2-type 1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CAACTGATCACGGCGGCATCT	0.552		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(205-207)Gtg>Atg		fibroblast growth factor receptor 2	Palifermin(DB00039)	C	MET/VAL,MET/VAL,MET/VAL,,,MET/VAL,,,MET/VAL	0,4406		0,0,2203	157.0	137.0	144.0		205,205,205,,,205,,,205	1.6	0.6	10		144	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron,intron,missense,intron,intron,missense	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_001144919.1,NM_022970.3	21,21,21,,,21,,,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,,,benign,,,benign	69/822,69/770,69/710,,,69/706,,,69/823	123325123	1,13005	2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123325123C>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.205G>A	10.37:g.123325123C>T	ENSP00000351276:p.Val69Met					FGFR2_ENST00000369056.1_Missense_Mutation_p.V69M|FGFR2_ENST00000369061.4_Missense_Mutation_p.V69M|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.V69M|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Missense_Mutation_p.V69M|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000351936.6_Missense_Mutation_p.V69M|FGFR2_ENST00000346997.2_Missense_Mutation_p.V69M|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.V69M	p.V69M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	3	477	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	69			Ig-like C2-type 1.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.205G>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975241	0.34848	0.0	1.16E-4	ENSG00000066468	ENST00000369062;ENST00000369061;ENST00000358487;ENST00000369060;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000369056;ENST00000369058;ENST00000359354	T;T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.13	1.65	0.23941	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.655730	0.16763	N	0.200527	T	0.07683	0.0193	N	0.17312	0.475	0.24575	N	0.993904	B;B;B;B;B;B;B;B	0.15930	0.003;0.001;0.004;0.015;0.012;0.0;0.003;0.0	B;B;B;B;B;B;B;B	0.15484	0.008;0.002;0.013;0.01;0.003;0.007;0.008;0.003	T	0.30327	-0.9982	10	0.42905	T	0.14	.	6.4855	0.22087	0.0:0.3739:0.0:0.6261	.	88;88;69;88;69;69;88;69	D3DRD9;D3DRD4;B5A960;D3DRD5;P21802-18;P21802;D3DRE0;P21802-17	.;.;.;.;.;FGFR2_HUMAN;.;.	M	69	ENSP00000358057:V69M;ENSP00000351276:V69M;ENSP00000358056:V69M;ENSP00000263451:V69M;ENSP00000410294:V69M;ENSP00000309878:V69M;ENSP00000358052:V69M;ENSP00000358054:V69M;ENSP00000352309:V69M	ENSP00000263451:V69M	V	-	1	0	FGFR2	123315113	0.838000	0.29461	0.640000	0.29408	0.955000	0.61496	0.072000	0.14617	0.091000	0.17302	-0.323000	0.08544	GTG		0.552	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		81	157	0	0	0	1	0	81	157				
RPS6KL1	83694	broad.mit.edu	37	14	75388084	75388084	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:75388084G>A	ENST00000555647.1	-	3	448	c.161C>T	c.(160-162)gCc>gTc	p.A54V	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.A54V|RPS6KL1_ENST00000554900.1_Intron|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.A54V|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.A54V			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	54						ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GATCTGCGTGGCCGCATCCAC	0.592																																						ENST00000555647.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(160-162)gCc>gTc		ribosomal protein S6 kinase-like 1							132.0	113.0	120.0					14																	75388084		2203	4300	6503	SO:0001583	missense	83694					ribosome	ATP binding|protein serine/threonine kinase activity	g.chr14:75388084G>A	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.161C>T	14.37:g.75388084G>A	ENSP00000452027:p.Ala54Val					RPS6KL1_ENST00000557413.1_Missense_Mutation_p.A54V|RPS6KL1_ENST00000554900.1_Intron|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.A54V|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.A54V	p.A54V			Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)	3	448	-			54					A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	ENST00000555647.1	37	c.161C>T	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904267	0.92035	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	4.16	4.16	0.48862	MIT (2);	0.000000	0.85682	D	0.000000	T	0.76076	0.3937	L	0.49126	1.545	0.80722	D	1	D;D;D	0.89917	1.0;0.988;1.0	D;D;D	0.85130	0.997;0.956;0.984	T	0.78620	-0.2133	10	0.87932	D	0	-16.0605	12.6923	0.56982	0.0:0.0:0.8347:0.1653	.	54;54;54	Q9Y6S9;Q9Y6S9-4;Q9Y6S9-2	RPKL1_HUMAN;.;.	V	54	ENSP00000452027:A54V;ENSP00000346644:A54V;ENSP00000450567:A54V;ENSP00000351086:A54V	ENSP00000346644:A54V	A	-	2	0	RPS6KL1	74457837	1.000000	0.71417	0.867000	0.34043	0.973000	0.67179	9.358000	0.97109	2.046000	0.60703	0.561000	0.74099	GCC		0.592	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			36	65	0	0	0	1	0	36	65				
SEMG1	6406	broad.mit.edu	37	20	43837242	43837242	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:43837242A>G	ENST00000372781.3	+	2	1361	c.1304A>G	c.(1303-1305)gAt>gGt	p.D435G	SEMG1_ENST00000244069.6_Missense_Mutation_p.D375G	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	435	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGGGGATTGGATATTGTAATT	0.403																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(1303-1305)gAt>gGt		semenogelin I							126.0	115.0	119.0					20																	43837242		2203	4300	6503	SO:0001583	missense	6406							g.chr20:43837242A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1304A>G	20.37:g.43837242A>G	ENSP00000361867:p.Asp435Gly					SEMG1_ENST00000244069.6_Missense_Mutation_p.D375G	p.D435G	NM_003007.3	NP_002998.1					2	1361	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.1304A>G	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	a	0.142	-1.100567	0.01843	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08008	3.14;3.14	1.47	-1.35	0.09114	.	.	.	.	.	T	0.04272	0.0118	L	0.43923	1.385	0.09310	N	1	B;B;P	0.36909	0.158;0.015;0.573	B;B;B	0.28305	0.025;0.006;0.088	T	0.38542	-0.9656	9	0.10636	T	0.68	.	1.437	0.02345	0.4489:0.0:0.2313:0.3199	.	375;435;375	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	G	375;435	ENSP00000244069:D375G;ENSP00000361867:D435G	ENSP00000244069:D375G	D	+	2	0	SEMG1	43270656	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.059000	0.11731	-0.423000	0.07394	0.455000	0.32223	GAT		0.403	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		121	90	0	0	0	1	0	121	90				
MYO6	4646	broad.mit.edu	37	6	76624710	76624710	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:76624710T>C	ENST00000369977.3	+	35	3978	c.3839T>C	c.(3838-3840)cTg>cCg	p.L1280P	MYO6_ENST00000369975.1_Missense_Mutation_p.L1248P|MYO6_ENST00000369981.3_Missense_Mutation_p.L1281P|MYO6_ENST00000369985.4_Missense_Mutation_p.L1257P	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1289					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ACAGCCATGCTGCAGAGTCTG	0.512																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3841-3843)cTg>cCg		myosin VI							49.0	46.0	47.0					6																	76624710		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76624710T>C	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3839T>C	6.37:g.76624710T>C	ENSP00000358994:p.Leu1280Pro					MYO6_ENST00000369985.4_Missense_Mutation_p.L1257P|MYO6_ENST00000369975.1_Missense_Mutation_p.L1248P|MYO6_ENST00000369977.3_Missense_Mutation_p.L1280P	p.L1281P			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	35	4121	+		all_hematologic(105;0.189)	1289					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.3842T>C	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.895454	0.52121	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.91894	-2.82;-2.86;-2.81;-2.93	6.07	6.07	0.98685	.	0.180510	0.36893	N	0.002354	D	0.94470	0.8220	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95079	0.8211	10	0.72032	D	0.01	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	1257;1280	Q9UM54-2;Q9UM54-1	.;.	P	1290;1281;1257;1280;1248	ENSP00000358998:L1281P;ENSP00000359002:L1257P;ENSP00000358994:L1280P;ENSP00000358992:L1248P	ENSP00000358992:L1248P	L	+	2	0	MYO6	76681430	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.676000	0.84012	2.326000	0.78906	0.533000	0.62120	CTG		0.512	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		22	13	0	0	0	1	0	22	13				
RHBDF2	79651	broad.mit.edu	37	17	74469406	74469406	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:74469406A>G	ENST00000313080.4	-	16	2097	c.1824T>C	c.(1822-1824)tgT>tgC	p.C608C	RHBDF2_ENST00000389760.4_Silent_p.C579C|RHBDF2_ENST00000591885.1_Silent_p.C579C	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	608					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGGTGATCTCACAGCTAAGGG	0.597																																						ENST00000591885.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						c.(1735-1737)tgT>tgC		rhomboid 5 homolog 2 (Drosophila)							75.0	48.0	57.0					17																	74469406		2203	4300	6503	SO:0001819	synonymous_variant	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74469406A>G	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.1824T>C	17.37:g.74469406A>G						RHBDF2_ENST00000389760.4_Silent_p.C579C|RHBDF2_ENST00000313080.4_Silent_p.C608C	p.C579C			Q6PJF5	RHDF2_HUMAN			16	2287	-			608					A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	ENST00000313080.4	37	c.1737T>C	CCDS32743.1																																																																																				0.597	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		17	13	0	0	0	1	0	17	13				
DYRK1B	9149	broad.mit.edu	37	19	40316673	40316673	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:40316673C>T	ENST00000593685.1	-	11	2040	c.1572G>A	c.(1570-1572)aaG>aaA	p.K524K	DYRK1B_ENST00000348817.3_Silent_p.K496K|DYRK1B_ENST00000597639.1_Silent_p.K496K|DYRK1B_ENST00000323039.5_Silent_p.K524K|DYRK1B_ENST00000430012.2_Silent_p.K484K			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	524					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CTTGATGTGTCTTGTGGGGCA	0.642																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1570-1572)aaG>aaA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							14.0	19.0	17.0					19																	40316673		2178	4267	6445	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316673C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1572G>A	19.37:g.40316673C>T						DYRK1B_ENST00000430012.2_Silent_p.K484K|DYRK1B_ENST00000597639.1_Silent_p.K496K|DYRK1B_ENST00000348817.3_Silent_p.K496K|DYRK1B_ENST00000323039.5_Silent_p.K524K	p.K524K			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2040	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		524					O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.1572G>A	CCDS12543.1																																																																																				0.642	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		29	51	0	0	0	1	0	29	51				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	59	0	0	0	1	0	4	59				
RXFP3	51289	broad.mit.edu	37	5	33937225	33937225	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:33937225C>T	ENST00000330120.3	+	1	735	c.380C>T	c.(379-381)aCg>aTg	p.T127M		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	127					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CTGGCGCTGACGGACTTTCAG	0.572																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(379-381)aCg>aTg		relaxin/insulin-like family peptide receptor 3							139.0	128.0	132.0					5																	33937225		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937225C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.380C>T	5.37:g.33937225C>T	ENSP00000328708:p.Thr127Met						p.T127M	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	735	+			127					Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.380C>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649007	0.87958	.	.	ENSG00000182631	ENST00000330120	T	0.73575	-0.76	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92222	0.5785	10	0.87932	D	0	-31.0574	19.8764	0.96873	0.0:1.0:0.0:0.0	.	127	Q9NSD7	RL3R1_HUMAN	M	127	ENSP00000328708:T127M	ENSP00000328708:T127M	T	+	2	0	RXFP3	33972982	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	6.016000	0.70798	2.700000	0.92200	0.650000	0.86243	ACG		0.572	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		54	89	0	0	0	1	0	54	89				
MTERF4	130916	broad.mit.edu	37	2	242036781	242036781	+	Silent	SNP	A	A	G	rs377091448		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:242036781A>G	ENST00000391980.2	-	3	640	c.582T>C	c.(580-582)atT>atC	p.I194I	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000406593.1_Silent_p.I6I|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000407095.3_Silent_p.I194I	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		194					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CAGTGTCGTTAATGTCCTGCT	0.463																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(580-582)atT>atC		MTERF domain containing 2		A		0,4406		0,0,2203	104.0	90.0	95.0		582	-7.7	0.0	2		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MTERFD2	NM_182501.3		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		194/382	242036781	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	130916							g.chr2:242036781A>G																												ENST00000391980.2:c.582T>C	2.37:g.242036781A>G						MTERFD2_ENST00000407095.3_Silent_p.I194I|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Silent_p.I6I	p.I194I	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	3	640	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	194					A8K6K0|Q9P0E0	Silent	SNP	ENST00000391980.2	37	c.582T>C	CCDS2544.1																																																																																				0.463	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			23	26	0	0	0	1	0	23	26				
PNMA2	10687	broad.mit.edu	37	8	26365217	26365217	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:26365217C>T	ENST00000522362.2	-	3	1949	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	352					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		ATAGCCATCTCGTTCCTCTGG	0.522																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(1054-1056)cGa>cAa		paraneoplastic Ma antigen 2							104.0	104.0	104.0					8																	26365217		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365217C>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.1055G>A	8.37:g.26365217C>T	ENSP00000429344:p.Arg352Gln						p.R352Q	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1949	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	352					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.1055G>A	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	C	8.666	0.901702	0.17760	.	.	ENSG00000240694	ENST00000522362	T	0.08807	3.05	4.32	0.307	0.15811	.	.	.	.	.	T	0.04724	0.0128	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45086	-0.9285	9	0.22109	T	0.4	-12.0259	3.6754	0.08290	0.1523:0.5085:0.2471:0.0922	.	352	Q9UL42	PNMA2_HUMAN	Q	352	ENSP00000429344:R352Q	ENSP00000429344:R352Q	R	-	2	0	PNMA2	26421134	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.694000	0.25512	0.046000	0.15833	-0.150000	0.13652	CGA		0.522	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		55	212	0	0	0	1	0	55	212				
DOLK	22845	broad.mit.edu	37	9	131709514	131709514	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:131709514C>A	ENST00000372586.3	-	1	384	c.69G>T	c.(67-69)gaG>gaT	p.E23D	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	23					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CTACTGCCGCCTCTGCCAGCA	0.662																																						ENST00000372586.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(67-69)gaG>gaT		dolichol kinase							38.0	43.0	41.0					9																	131709514		2203	4300	6503	SO:0001583	missense	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131709514C>A	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.69G>T	9.37:g.131709514C>A	ENSP00000361667:p.Glu23Asp					RP11-101E3.5_ENST00000482796.1_Intron	p.E23D	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN			1	384	-			23					Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	37	c.69G>T	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.111217	0.56398	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.84442	-1.85	5.12	3.14	0.36123	.	0.000000	0.64402	D	0.000002	D	0.89146	0.6632	L	0.57536	1.79	0.46749	D	0.999188	D	0.67145	0.996	D	0.75484	0.986	D	0.89211	0.3564	10	0.87932	D	0	-8.8581	10.0658	0.42303	0.0:0.7677:0.0:0.2323	.	23	Q9UPQ8	DOLK_HUMAN	D	23	ENSP00000361667:E23D	ENSP00000361667:E23D	E	-	3	2	DOLK	130749335	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.850000	0.39328	1.387000	0.46486	0.462000	0.41574	GAG		0.662	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		52	50	1	0	4.33383e-22	1	4.80502e-22	52	50				
FAM66D	100132923	broad.mit.edu	37	8	11985834	11985834	+	RNA	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:11985834G>A	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		ACCCGGTGACGACGAGAACAG	0.483																																						ENST00000434078.2																			0																																																			0							g.chr8:11985834G>A			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11985834G>A								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.483	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		6	51	0	0	0	1	0	6	51				
ADAMTS7	11173	broad.mit.edu	37	15	79058095	79058095	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:79058095G>A	ENST00000388820.4	-	19	4368	c.4158C>T	c.(4156-4158)caC>caT	p.H1386H	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1386					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGGGACTCTGTGGCTGTTGG	0.682																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4156-4158)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							20.0	26.0	24.0					15																	79058095		2156	4236	6392	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058095G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4158C>T	15.37:g.79058095G>A							p.H1386H	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	4368	-			1386					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.4158C>T	CCDS32303.1																																																																																				0.682	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		42	61	0	0	0	1	0	42	61				
KHSRP	8570	broad.mit.edu	37	19	6417016	6417016	+	Silent	SNP	G	G	A	rs554880290	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:6417016G>A	ENST00000398148.3	-	12	1256	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	388	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TCTGGAGGAGGTCGTTGATGA	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		15175	0.0		0.0	False		,,,				2504	0.002				Colon(55;593 1006 2067 9135 22980)	ENST00000398148.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.(1162-1164)gaC>gaT		KH-type splicing regulatory protein							54.0	61.0	59.0					19																	6417016		1963	4141	6104	SO:0001819	synonymous_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6417016G>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1164C>T	19.37:g.6417016G>A							p.D388D	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN			12	1256	-			388			Gly-rich.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	c.1164C>T	CCDS45936.1																																																																																				0.642	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			9	103	0	0	0	1	0	9	103				
ANTXR1	84168	broad.mit.edu	37	2	69472531	69472531	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:69472531C>T	ENST00000303714.4	+	18	1931	c.1609C>T	c.(1609-1611)Cct>Tct	p.P537S		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	537	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						cccgtccccaccttccaccct	0.706									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1609-1611)Cct>Tct		anthrax toxin receptor 1							11.0	13.0	12.0					2																	69472531		2139	4222	6361	SO:0001583	missense	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69472531C>T	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1609C>T	2.37:g.69472531C>T	ENSP00000301945:p.Pro537Ser						p.P537S	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			18	1931	+			537			Pro-rich.		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.1609C>T	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675212	0.29783	.	.	ENSG00000169604	ENST00000303714	T	0.33654	1.4	4.33	4.33	0.51752	.	0.224250	0.38272	N	0.001754	T	0.21801	0.0525	L	0.31926	0.97	0.80722	D	1	B	0.33883	0.43	B	0.21708	0.036	T	0.05599	-1.0875	10	0.21014	T	0.42	-3.856	10.0609	0.42275	0.2013:0.7987:0.0:0.0	.	537	Q9H6X2	ANTR1_HUMAN	S	537	ENSP00000301945:P537S	ENSP00000301945:P537S	P	+	1	0	ANTXR1	69326035	0.955000	0.32602	0.995000	0.50966	0.916000	0.54674	1.204000	0.32296	2.143000	0.66587	0.478000	0.44815	CCT		0.706	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		3	6	0	0	0	1	0	3	6				
IGKV4-1	28908	broad.mit.edu	37	2	89185510	89185510	+	RNA	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:89185510G>A	ENST00000390243.2	+	0	379							P06312	KV401_HUMAN	immunoglobulin kappa variable 4-1						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										AACCAGGACAGCCTCCTAAGC	0.532																																						ENST00000390243.2																			0																				79.0	80.0	80.0					2																	89185510		1917	4121	6038			0							g.chr2:89185510G>A	Z00023		2p11.2	2012-02-08			ENSG00000211598	ENSG00000211598		"""Immunoglobulins / IGK locus"""	5834	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV41, B3		P06312	OTTHUMG00000151533		2.37:g.89185510G>A														0	379	+									RNA	SNP	ENST00000390243.2	37																																																																																						0.532	IGKV4-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323037.2	NG_000834		28	30	0	0	0	1	0	28	30				
HERC2	8924	broad.mit.edu	37	15	28387443	28387443	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:28387443A>G	ENST00000261609.7	-	76	11749	c.11641T>C	c.(11641-11643)Tcc>Ccc	p.S3881P		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAACACGGGAGGCCATGCAG	0.527																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11641-11643)Tcc>Ccc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							66.0	60.0	62.0					15																	28387443		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28387443A>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11641T>C	15.37:g.28387443A>G	ENSP00000261609:p.Ser3881Pro						p.S3881P	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	76	11749	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3881						Missense_Mutation	SNP	ENST00000261609.7	37	c.11641T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740053	0.89573	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.47192	0.1432	L	0.46157	1.445	0.80722	D	1	D	0.61697	0.99	P	0.49799	0.622	T	0.41645	-0.9497	10	0.44086	T	0.13	.	16.1087	0.81244	1.0:0.0:0.0:0.0	.	3881	O95714	HERC2_HUMAN	P	3881	ENSP00000261609:S3881P	ENSP00000261609:S3881P	S	-	1	0	HERC2	26061038	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.944000	0.92980	2.204000	0.70986	0.528000	0.53228	TCC		0.527	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		19	28	0	0	0	1	0	19	28				
HCLS1	3059	broad.mit.edu	37	3	121351302	121351302	+	Missense_Mutation	SNP	C	C	T	rs149387044		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:121351302C>T	ENST00000314583.3	-	12	1208	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	HCLS1_ENST00000428394.2_Missense_Mutation_p.E336K|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	373					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TTctcaggctcgggctcaggc	0.607																																						ENST00000314583.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1117-1119)Gag>Aag		hematopoietic cell-specific Lyn substrate 1		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	170.0	162.0	165.0		1117	4.4	0.9	3	dbSNP_134	165	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HCLS1	NM_005335.4	56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	373/487	121351302	2,13004	2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351302C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1117G>A	3.37:g.121351302C>T	ENSP00000320176:p.Glu373Lys					HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.E336K	p.E373K	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	12	1208	-			373					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1117G>A	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099248	0.37048	2.27E-4	1.16E-4	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.21191	2.03;2.02	5.28	4.41	0.53225	.	0.785420	0.12768	N	0.440772	T	0.18718	0.0449	L	0.48642	1.525	0.37242	D	0.906143	B;B	0.17268	0.021;0.021	B;B	0.06405	0.002;0.002	T	0.06716	-1.0811	10	0.22706	T	0.39	-20.4635	9.7319	0.40366	0.0:0.9072:0.0:0.0928	.	336;373	E7EVW7;P14317	.;HCLS1_HUMAN	K	373;336	ENSP00000320176:E373K;ENSP00000387645:E336K	ENSP00000320176:E373K	E	-	1	0	HCLS1	122833992	0.780000	0.28664	0.885000	0.34714	0.364000	0.29643	1.470000	0.35354	1.478000	0.48253	0.655000	0.94253	GAG		0.607	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		102	144	0	0	0	1	0	102	144				
CETN2	1069	broad.mit.edu	37	X	151997817	151997817	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:151997817G>A	ENST00000370277.3	-	3	233	c.167C>T	c.(166-168)gCa>gTa	p.A56V	CETN2_ENST00000493482.1_5'UTR|NSDHL_ENST00000440023.1_5'Flank|NSDHL_ENST00000370274.3_5'Flank	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	56	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTCATTGCCACCTATAA	0.393								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000370277.3																			0				breast(1)|lung(4)|prostate(1)|skin(1)	7						c.(166-168)gCa>gTa	Direct reversal of damage;Nucleotide excision repair (NER)	centrin, EF-hand protein, 2							53.0	50.0	51.0					X																	151997817		2203	4300	6503	SO:0001583	missense	1069				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chrX:151997817G>A	X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"""EF-hand domain containing"""	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.167C>T	X.37:g.151997817G>A	ENSP00000359300:p.Ala56Val					CETN2_ENST00000493482.1_5'UTR	p.A56V	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN			3	233	-	Acute lymphoblastic leukemia(192;6.56e-05)		56			EF-hand 1.		B2R4T4|Q53XW1	Missense_Mutation	SNP	ENST00000370277.3	37	c.167C>T	CCDS14716.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181948	0.78677	.	.	ENSG00000147400	ENST00000370277	T	0.71698	-0.59	5.43	3.67	0.42095	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.56077	0.1961	N	0.25789	0.76	0.80722	D	1	B	0.33528	0.416	B	0.37731	0.257	T	0.41197	-0.9522	10	0.17369	T	0.5	.	9.2533	0.37568	0.1808:0.0:0.8192:0.0	.	56	P41208	CETN2_HUMAN	V	56	ENSP00000359300:A56V	ENSP00000359300:A56V	A	-	2	0	CETN2	151748473	1.000000	0.71417	0.953000	0.39169	0.981000	0.71138	7.822000	0.86651	0.490000	0.27771	0.600000	0.82982	GCA		0.393	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061197.1	NM_004344		15	41	0	0	0	1	0	15	41				
FZD3	7976	broad.mit.edu	37	8	28384902	28384902	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:28384902A>G	ENST00000240093.3	+	5	1103	c.625A>G	c.(625-627)Att>Gtt	p.I209V	FZD3_ENST00000537916.1_Missense_Mutation_p.I209V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	209					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CATAGGATTGATTTCAATCAT	0.363																																						ENST00000240093.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(625-627)Att>Gtt		frizzled family receptor 3							173.0	165.0	167.0					8																	28384902		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28384902A>G	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.625A>G	8.37:g.28384902A>G	ENSP00000240093:p.Ile209Val					FZD3_ENST00000537916.1_Missense_Mutation_p.I209V	p.I209V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1103	+		Ovarian(32;2.06e-05)	209					A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.625A>G	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	A	0.284	-0.984478	0.02180	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.81415	-1.49;-1.49	5.24	4.08	0.47627	GPCR, family 2-like (1);	0.118979	0.56097	D	0.000023	T	0.56543	0.1992	N	0.05124	-0.11	0.40719	D	0.982642	B	0.06786	0.001	B	0.13407	0.009	T	0.51896	-0.8647	10	0.02654	T	1	.	10.2739	0.43499	0.922:0.0:0.078:0.0	.	209	Q9NPG1	FZD3_HUMAN	V	209	ENSP00000437489:I209V;ENSP00000240093:I209V	ENSP00000240093:I209V	I	+	1	0	FZD3	28440821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.636000	0.54317	0.827000	0.34685	0.533000	0.62120	ATT		0.363	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		34	155	0	0	0	1	0	34	155				
NUP210	23225	broad.mit.edu	37	3	13399755	13399755	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:13399755C>T	ENST00000254508.5	-	16	2377	c.2295G>A	c.(2293-2295)atG>atA	p.M765I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	765					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCGGACAGGACATGTCCAGCT	0.657																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(2293-2295)atG>atA		nucleoporin 210kDa							84.0	81.0	82.0					3																	13399755		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13399755C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2295G>A	3.37:g.13399755C>T	ENSP00000254508:p.Met765Ile						p.M765I	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			16	2377	-	all_neural(104;0.187)		765					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.2295G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	9.246	1.039590	0.19669	.	.	ENSG00000132182	ENST00000254508	T	0.21361	2.01	5.26	1.38	0.22167	.	0.083209	0.50627	D	0.000115	T	0.07503	0.0189	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34204	-0.9838	10	0.23302	T	0.38	.	6.8152	0.23826	0.0:0.4017:0.3688:0.2295	.	765;765	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	I	765	ENSP00000254508:M765I	ENSP00000254508:M765I	M	-	3	0	NUP210	13374755	0.945000	0.32115	0.978000	0.43139	0.621000	0.37620	0.128000	0.15810	0.208000	0.20626	0.609000	0.83330	ATG		0.657	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		30	99	0	0	0	1	0	30	99				
FLG	2312	broad.mit.edu	37	1	152281526	152281526	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152281526C>T	ENST00000368799.1	-	3	5871	c.5836G>A	c.(5836-5838)Gct>Act	p.A1946T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1946	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCCCAAGCAGATCCAAGA	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5836-5838)Gct>Act		filaggrin							249.0	236.0	241.0					1																	152281526		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281526C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5836G>A	1.37:g.152281526C>T	ENSP00000357789:p.Ala1946Thr					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A1946T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5871	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1946			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5836G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	5.782	0.328667	0.10956	.	.	ENSG00000143631	ENST00000368799	T	0.01495	4.83	2.54	-5.08	0.02929	.	.	.	.	.	T	0.00468	0.0015	L	0.52364	1.645	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.46498	-0.9187	9	0.15499	T	0.54	-4.2776	3.4814	0.07603	0.3164:0.196:0.0:0.4875	.	1946	P20930	FILA_HUMAN	T	1946	ENSP00000357789:A1946T	ENSP00000357789:A1946T	A	-	1	0	FLG	150548150	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.045000	0.01410	-1.626000	0.01552	-0.236000	0.12185	GCT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		173	304	0	0	0	1	0	173	304				
SLC39A9	55334	broad.mit.edu	37	14	69925096	69925096	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:69925096T>A	ENST00000336643.5	+	7	1388	c.710T>A	c.(709-711)cTt>cAt	p.L237H	SLC39A9_ENST00000031146.4_Missense_Mutation_p.L171H|SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Missense_Mutation_p.L214H	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	237					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AAAGAAGCCCTTTCAGAGGTG	0.468																																						ENST00000031146.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(511-513)cTt>cAt		solute carrier family 39, member 9							98.0	108.0	105.0					14																	69925096		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69925096T>A		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.710T>A	14.37:g.69925096T>A	ENSP00000336887:p.Leu237His					SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000336643.5_Missense_Mutation_p.L237H|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Missense_Mutation_p.L214H	p.L171H			Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	6	1190	+			237					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.512T>A	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.568829	0.65765	.	.	ENSG00000029364	ENST00000336643;ENST00000557046	T;T	0.49432	0.78;0.78	5.29	5.29	0.74685	.	0.122813	0.56097	D	0.000029	T	0.44973	0.1319	L	0.52126	1.63	0.80722	D	1	B;B	0.17268	0.013;0.021	B;B	0.28305	0.088;0.031	T	0.32955	-0.9887	10	0.19147	T	0.46	-10.2688	15.2262	0.73354	0.0:0.0:0.0:1.0	.	214;237	Q9NUM3-2;Q9NUM3	.;S39A9_HUMAN	H	237;214	ENSP00000336887:L237H;ENSP00000451833:L214H	ENSP00000031146:L237H	L	+	2	0	SLC39A9	68994849	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.142000	0.71750	1.996000	0.58369	0.528000	0.53228	CTT		0.468	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		90	87	0	0	0	1	0	90	87				
DLG5	9231	broad.mit.edu	37	10	79552204	79552204	+	Silent	SNP	C	C	T	rs148200124		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:79552204C>T	ENST00000372391.2	-	32	5759	c.5754G>A	c.(5752-5754)ccG>ccA	p.P1918P	DLG5_ENST00000372388.2_Silent_p.P1578P|RP13-39P12.3_ENST00000601701.1_RNA|RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000459739.1_5'Flank	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1918					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCTCCTAGAGCGGGCAGGCTG	0.532																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(5752-5754)ccG>ccA		discs, large homolog 5 (Drosophila)							111.0	109.0	110.0					10																	79552204		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79552204C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5754G>A	10.37:g.79552204C>T						RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000372388.2_Silent_p.P1578P	p.P1918P	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		32	5759	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1918					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.5754G>A	CCDS7353.2																																																																																				0.532	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			69	148	0	0	0	1	0	69	148				
HIP1	3092	broad.mit.edu	37	7	75182877	75182877	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:75182877C>T	ENST00000336926.6	-	22	2196	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	HIP1_ENST00000434438.2_Missense_Mutation_p.A724T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	724					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTTACAGGCCTCGGTCAGT	0.562			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2170-2172)Gcc>Acc		huntingtin interacting protein 1							72.0	60.0	64.0					7																	75182877		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75182877C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2170G>A	7.37:g.75182877C>T	ENSP00000336747:p.Ala724Thr					HIP1_ENST00000434438.2_Missense_Mutation_p.A724T	p.A724T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			22	2196	-			724					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2170G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	c	5.778	0.327907	0.10956	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14266	2.73;2.52	5.17	4.26	0.50523	.	0.389583	0.32671	N	0.005789	T	0.06325	0.0163	N	0.13235	0.315	0.27173	N	0.960863	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.38308	-0.9667	10	0.09084	T	0.74	-8.3628	6.4825	0.22071	0.0:0.772:0.0:0.228	.	724;724	E7ES17;O00291	.;HIP1_HUMAN	T	724	ENSP00000336747:A724T;ENSP00000410300:A724T	ENSP00000336747:A724T	A	-	1	0	HIP1	75020813	0.857000	0.29778	0.998000	0.56505	0.793000	0.44817	0.229000	0.17833	1.315000	0.45114	0.650000	0.86243	GCC		0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		23	38	0	0	0	1	0	23	38				
OR2A14	135941	broad.mit.edu	37	7	143826815	143826815	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:143826815T>A	ENST00000408899.2	+	1	665	c.610T>A	c.(610-612)Ttc>Atc	p.F204I		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGCCTGCGTGTTCATCCTGGT	0.567																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(610-612)Ttc>Atc		olfactory receptor, family 2, subfamily A, member 14							152.0	157.0	155.0					7																	143826815		2047	4197	6244	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826815T>A		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.610T>A	7.37:g.143826815T>A	ENSP00000386137:p.Phe204Ile						p.F204I	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	665	+	Melanoma(164;0.0783)		204					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.610T>A	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	T	2.424	-0.332449	0.05314	.	.	ENSG00000221938	ENST00000408899	T	0.37411	1.2	4.18	2.93	0.34026	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33419	U	0.004938	T	0.22513	0.0543	N	0.21097	0.63	0.09310	N	1	B	0.28128	0.201	B	0.34931	0.192	T	0.18967	-1.0320	10	0.12766	T	0.61	-8.5051	8.2456	0.31686	0.1782:0.0:0.0:0.8218	.	204	Q96R47	O2A14_HUMAN	I	204	ENSP00000386137:F204I	ENSP00000386137:F204I	F	+	1	0	OR2A14	143457748	0.000000	0.05858	0.013000	0.15412	0.005000	0.04900	-1.777000	0.01780	1.868000	0.54150	0.459000	0.35465	TTC		0.567	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			121	139	0	0	0	1	0	121	139				
DAB2	1601	broad.mit.edu	37	5	39383336	39383336	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:39383336T>C	ENST00000320816.6	-	10	1192	c.725A>G	c.(724-726)gAa>gGa	p.E242G	DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000509337.1_Missense_Mutation_p.E221G|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.E221G	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	242	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTGTCGATTTCAGAGTTTAG	0.383																																						ENST00000320816.6																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(724-726)gAa>gGa		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							119.0	131.0	127.0					5																	39383336		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39383336T>C	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.725A>G	5.37:g.39383336T>C	ENSP00000313391:p.Glu242Gly					DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.E221G|DAB2_ENST00000509337.1_Missense_Mutation_p.E221G	p.E242G	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1192	-	all_lung(31;0.000197)		242					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.725A>G	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580376	0.65992	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.50277	1.04;0.75;0.75	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.64997	1.995	0.49483	D	0.999796	D;D	0.89917	0.999;1.0	D;D	0.91635	0.964;0.999	T	0.68652	-0.5352	10	0.62326	D	0.03	-21.5453	16.068	0.80903	0.0:0.0:0.0:1.0	.	242;221	P98082;P98082-3	DAB2_HUMAN;.	G	242;221;221	ENSP00000313391:E242G;ENSP00000439919:E221G;ENSP00000426245:E221G	ENSP00000313391:E242G	E	-	2	0	DAB2	39419093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.699000	0.61796	2.326000	0.78906	0.533000	0.62120	GAA		0.383	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		49	70	0	0	0	1	0	49	70				
MASP1	5648	broad.mit.edu	37	3	186953726	186953726	+	Intron	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:186953726C>T	ENST00000337774.5	-	10	1693				MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.E532K|MASP1_ENST00000296280.6_Missense_Mutation_p.E645K	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AACATGTTCTCCGTGACGCTG	0.547																																						ENST00000296280.6																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1933-1935)Gag>Aag		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							99.0	80.0	87.0					3																	186953726		2203	4300	6503	SO:0001627	intron_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186953726C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5542G>A	3.37:g.186953726C>T						MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.E532K	p.E645K	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	2158	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		627			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1933G>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000757	0.74818	.	.	ENSG00000127241	ENST00000296280;ENST00000392472	D;D	0.93307	-3.2;-3.2	5.87	5.87	0.94306	.	0.425696	0.28841	N	0.013975	D	0.88325	0.6406	N	0.16862	0.45	0.80722	D	1	B;B	0.22211	0.03;0.066	B;B	0.23716	0.033;0.048	T	0.82623	-0.0366	10	0.22109	T	0.4	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	532;645	P48740-4;P48740-2	.;.	K	645;532	ENSP00000296280:E645K;ENSP00000376264:E532K	ENSP00000296280:E645K	E	-	1	0	MASP1	188436420	0.998000	0.40836	0.974000	0.42286	0.990000	0.78478	3.960000	0.56752	2.941000	0.99782	0.655000	0.94253	GAG		0.547	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		23	34	0	0	0	1	0	23	34				
GPRC5A	9052	broad.mit.edu	37	12	13061187	13061187	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:13061187G>A	ENST00000014914.5	+	2	894	c.4G>A	c.(4-6)Gct>Act	p.A2T	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	2					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GTCCAGAATGGCTACAACAGT	0.473																																						ENST00000014914.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(4-6)Gct>Act		G protein-coupled receptor, family C, group 5, member A	Tretinoin(DB00755)						50.0	51.0	51.0					12																	13061187		2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061187G>A	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.4G>A	12.37:g.13061187G>A	ENSP00000014914:p.Ala2Thr					GPRC5A_ENST00000542056.1_Intron	p.A2T	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	894	+		Prostate(47;0.141)	2					B3KV45|O95357	Missense_Mutation	SNP	ENST00000014914.5	37	c.4G>A	CCDS8657.1	.	.	.	.	.	.	.	.	.	.	G	2.952	-0.216564	0.06101	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	T;T	0.17528	2.3;2.27	5.1	-10.2	0.00374	.	2.024010	0.02378	N	0.078546	T	0.06917	0.0176	N	0.14661	0.345	0.09310	N	0.999991	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26018	-1.0115	10	0.02654	T	1	-8.4832	7.874	0.29582	0.5221:0.0:0.079:0.3989	.	2;2	Q8NFJ5;A8K556	RAI3_HUMAN;.	T	2	ENSP00000014914:A2T;ENSP00000441627:A2T	ENSP00000014914:A2T	A	+	1	0	GPRC5A	12952454	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-1.081000	0.03403	-3.228000	0.00210	-1.251000	0.01509	GCT		0.473	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			23	25	0	0	0	1	0	23	25				
PDGFRB	5159	broad.mit.edu	37	5	149509511	149509511	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:149509511G>A	ENST00000261799.4	-	10	1857	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	463	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCAGCGTGGGCGGCAGCTC	0.612			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1387-1389)cCc>cTc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						99.0	73.0	82.0					5																	149509511		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149509511G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1388C>T	5.37:g.149509511G>A	ENSP00000261799:p.Pro463Leu		OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1725		p.P463L	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1857	-		all_hematologic(541;0.224)	463			Ig-like C2-type 5.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1388C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	4.742	0.138014	0.09083	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.75821	-0.97	4.64	4.64	0.57946	.	0.000000	0.56097	D	0.000029	T	0.67970	0.2950	L	0.56769	1.78	0.52501	D	0.999953	B;B	0.19445	0.007;0.036	B;B	0.17098	0.003;0.017	T	0.62642	-0.6811	10	0.11182	T	0.66	.	14.3668	0.66810	0.0:0.0:1.0:0.0	.	463;463	A8KAM8;P09619	.;PGFRB_HUMAN	L	463;133	ENSP00000261799:P463L	ENSP00000261799:P463L	P	-	2	0	PDGFRB	149489704	1.000000	0.71417	0.993000	0.49108	0.024000	0.10985	3.290000	0.51755	2.409000	0.81822	0.462000	0.41574	CCC		0.612	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		56	90	0	0	0	1	0	56	90				
SEC24B	10427	broad.mit.edu	37	4	110384778	110384778	+	Silent	SNP	G	G	A	rs374995428		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:110384778G>A	ENST00000265175.5	+	2	910	c.855G>A	c.(853-855)gcG>gcA	p.A285A	SEC24B_ENST00000504968.2_Silent_p.A316A|SEC24B_ENST00000399100.2_Silent_p.A285A	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	285					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGGCTGTAGCGAACAACAACC	0.413																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(853-855)gcG>gcA		SEC24 family member B		G	,	0,4080		0,0,2040	69.0	70.0	70.0		855,855	-0.0	0.0	4		70	1,8419		0,1,4209	no	coding-synonymous,coding-synonymous	SEC24B	NM_001042734.1,NM_006323.2	,	0,1,6249	AA,AG,GG		0.0119,0.0,0.0080	,	285/1234,285/1269	110384778	1,12499	2040	4210	6250	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110384778G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.855G>A	4.37:g.110384778G>A						SEC24B_ENST00000399100.2_Silent_p.A285A|SEC24B_ENST00000504968.2_Silent_p.A316A	p.A285A	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	2	910	+		Hepatocellular(203;0.217)	285					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.855G>A	CCDS47124.1																																																																																				0.413	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			30	57	0	0	0	1	0	30	57				
PRADC1	84279	broad.mit.edu	37	2	73455661	73455661	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:73455661C>A	ENST00000258083.2	-	5	555	c.488G>T	c.(487-489)tGg>tTg	p.W163L	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	163	PA.					extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						AATGATGGCCCATGGCAGCCC	0.562																																						ENST00000258083.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(487-489)tGg>tTg		protease-associated domain containing 1							83.0	70.0	75.0					2																	73455661		2203	4300	6503	SO:0001583	missense	84279					extracellular region		g.chr2:73455661C>A	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"""protease-associated domain-containing glycoprotein 21 kDa"""		"""chromosome 2 open reading frame 7"""	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.488G>T	2.37:g.73455661C>A	ENSP00000258083:p.Trp163Leu					PRADC1_ENST00000480093.1_5'UTR	p.W163L	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN			5	555	-			163			PA.		Q2Z1P2	Missense_Mutation	SNP	ENST00000258083.2	37	c.488G>T	CCDS1924.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560140	0.27827	.	.	ENSG00000135617	ENST00000258083	T	0.40476	1.03	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	N	0.22421	0.69	0.54753	D	0.999985	P	0.43477	0.808	B	0.41332	0.354	T	0.04029	-1.0983	10	0.11794	T	0.64	-2.9182	16.7728	0.85543	0.0:1.0:0.0:0.0	.	163	Q9BSG0	PADC1_HUMAN	L	163	ENSP00000258083:W163L	ENSP00000258083:W163L	W	-	2	0	PRADC1	73309169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.766000	0.55280	2.620000	0.88729	0.655000	0.94253	TGG		0.562	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319		20	30	1	0	1.28384e-07	1	1.3388e-07	20	30				
DMRTC2	63946	broad.mit.edu	37	19	42351810	42351810	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:42351810C>T	ENST00000269945.3	+	3	282	c.231C>T	c.(229-231)cgC>cgT	p.R77R	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Silent_p.R77R	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	77					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TTAGGGAGCGCCGCAGGGTCA	0.602																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(229-231)cgC>cgT		DMRT-like family C2							37.0	35.0	36.0					19																	42351810		2203	4300	6503	SO:0001819	synonymous_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351810C>T	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.231C>T	19.37:g.42351810C>T						DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Silent_p.R77R	p.R77R	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			3	282	+			77					Q8N6Q2|Q96M39|Q96SD4	Silent	SNP	ENST00000269945.3	37	c.231C>T	CCDS33034.1																																																																																				0.602	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		13	26	0	0	0	1	0	13	26				
KLHL31	401265	broad.mit.edu	37	6	53517031	53517031	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:53517031C>T	ENST00000407079.1	-	2	1269	c.1270G>A	c.(1270-1272)Gcg>Acg	p.A424T	KLHL31_ENST00000370905.3_Missense_Mutation_p.A424T			Q9H511	KLH31_HUMAN	kelch-like family member 31	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CGGCCGCCCGCGGCGTACACG	0.647																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(1270-1272)Gcg>Acg		kelch-like family member 31							52.0	55.0	54.0					6																	53517031		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53517031C>T		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1270G>A	6.37:g.53517031C>T	ENSP00000384644:p.Ala424Thr					KLHL31_ENST00000407079.1_Missense_Mutation_p.A424T	p.A424T	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			3	1410	-	Lung NSC(77;0.0158)		424					A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.1270G>A	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187323	0.38609	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.77750	-1.12;-1.12	5.69	2.88	0.33553	Galactose oxidase, beta-propeller (1);	0.597834	0.18818	N	0.130320	T	0.39489	0.1080	N	0.17312	0.475	0.09310	N	1	B	0.30526	0.283	B	0.26202	0.067	T	0.20706	-1.0267	10	0.49607	T	0.09	.	6.7793	0.23636	0.0:0.6687:0.1266:0.2047	.	424	Q9H511	KLH31_HUMAN	T	424	ENSP00000359942:A424T;ENSP00000384644:A424T	ENSP00000359942:A424T	A	-	1	0	KLHL31	53624990	0.736000	0.28164	0.095000	0.20976	0.977000	0.68977	1.375000	0.34295	0.730000	0.32425	0.650000	0.86243	GCG		0.647	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		41	109	0	0	0	1	0	41	109				
CATSPER4	378807	broad.mit.edu	37	1	26527326	26527326	+	Silent	SNP	C	C	T	rs201719884		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:26527326C>T	ENST00000456354.2	+	8	1060	c.993C>T	c.(991-993)ggC>ggT	p.G331G		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	331					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGACAGGCGCAGAGGAAG	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15315	0.0		0.0	False		,,,				2504	0.0					ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(991-993)ggC>ggT		cation channel, sperm associated 4							40.0	44.0	43.0					1																	26527326		2203	4300	6503	SO:0001819	synonymous_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26527326C>T	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.993C>T	1.37:g.26527326C>T							p.G331G	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	8	1060	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	331					A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	c.993C>T	CCDS30645.1																																																																																				0.627	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		25	51	0	0	0	1	0	25	51				
ARHGAP29	9411	broad.mit.edu	37	1	94650983	94650983	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:94650983G>C	ENST00000260526.6	-	17	2017	c.1835C>G	c.(1834-1836)aCa>aGa	p.T612R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	612					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.T612I(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAACTTGTGTGTGAGAGCTGC	0.373																																						ENST00000260526.6																			1	Substitution - Missense(1)	p.T612I(1)	large_intestine(1)	NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1834-1836)aCa>aGa		Rho GTPase activating protein 29							153.0	142.0	146.0					1																	94650983		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94650983G>C		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1835C>G	1.37:g.94650983G>C	ENSP00000260526:p.Thr612Arg					ARHGAP29_ENST00000482481.1_5'UTR	p.T612R	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	17	2017	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	612					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.1835C>G	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121953	0.77436	.	.	ENSG00000137962	ENST00000260526	D	0.84146	-1.81	5.7	4.74	0.60224	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.39687	N	0.001283	D	0.91212	0.7231	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.982;0.994	D	0.91774	0.5430	10	0.87932	D	0	-23.9357	18.3296	0.90264	0.0:0.1284:0.8716:0.0	.	612;612	F8VWZ8;Q52LW3	.;RHG29_HUMAN	R	612	ENSP00000260526:T612R	ENSP00000260526:T612R	T	-	2	0	ARHGAP29	94423571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.786000	0.69006	2.698000	0.92095	0.655000	0.94253	ACA		0.373	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		24	37	0	0	0	1	0	24	37				
MBOAT7	79143	broad.mit.edu	37	19	54684567	54684567	+	Silent	SNP	G	G	A	rs370479065		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:54684567G>A	ENST00000245615.1	-	6	1257	c.777C>T	c.(775-777)gcC>gcT	p.A259A	MBOAT7_ENST00000391754.1_Silent_p.A259A|MBOAT7_ENST00000431666.2_Silent_p.A186A|MBOAT7_ENST00000338624.6_Silent_p.A186A|MBOAT7_ENST00000474910.1_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	259					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCCAAAGCCGGCGGCAATGC	0.711											OREG0003644	type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									NSCLC(97;826 2151 10470 22540)	ENST00000245615.1																			0				endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(775-777)gcC>gcT		membrane bound O-acyltransferase domain containing 7		G	,,,	1,4313		0,1,2156	9.0	11.0	10.0		558,777,558,777	-6.4	0.9	19		10	0,8466		0,0,4233	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MBOAT7	NM_001146056.1,NM_001146082.1,NM_001146083.1,NM_024298.3	,,,	0,1,6389	AA,AG,GG		0.0,0.0232,0.0078	,,,	186/400,259/345,186/400,259/473	54684567	1,12779	2157	4233	6390	SO:0001819	synonymous_variant	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54684567G>A	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.777C>T	19.37:g.54684567G>A			OREG0003644	type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1002	MBOAT7_ENST00000338624.6_Silent_p.A186A|MBOAT7_ENST00000391754.1_Silent_p.A259A|MBOAT7_ENST00000431666.2_Silent_p.A186A	p.A259A	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN			6	1257	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		259					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Silent	SNP	ENST00000245615.1	37	c.777C>T	CCDS12883.1																																																																																				0.711	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		6	8	0	0	0	1	0	6	8				
LCT	3938	broad.mit.edu	37	2	136566315	136566315	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:136566315G>A	ENST00000264162.2	-	8	3612	c.3602C>T	c.(3601-3603)gCc>gTc	p.A1201V	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1201	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GAAGACGTCGGCCGTCGCCCT	0.557																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3601-3603)gCc>gTc		lactase							192.0	163.0	173.0					2																	136566315		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566315G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3602C>T	2.37:g.136566315G>A	ENSP00000264162:p.Ala1201Val						p.A1201V	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3612	-			1201			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3602C>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784376	0.49997	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.47869	0.83	5.76	4.85	0.62838	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.045285	0.85682	D	0.000000	T	0.60573	0.2279	L	0.35793	1.09	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.64643	-0.6359	10	0.72032	D	0.01	-23.4811	16.5794	0.84710	0.0:0.1305:0.8695:0.0	.	1201	P09848	LPH_HUMAN	V	1201;633	ENSP00000264162:A1201V	ENSP00000264162:A1201V	A	-	2	0	LCT	136282785	1.000000	0.71417	0.049000	0.19019	0.253000	0.25986	9.869000	0.99810	1.364000	0.46038	0.563000	0.77884	GCC		0.557	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		96	115	0	0	0	1	0	96	115				
TRIM3	10612	broad.mit.edu	37	11	6478961	6478961	+	Silent	SNP	C	C	T	rs116462813		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:6478961C>T	ENST00000525074.1	-	4	874	c.480G>A	c.(478-480)gcG>gcA	p.A160A	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Silent_p.A160A|TRIM3_ENST00000359518.3_Silent_p.A160A|TRIM3_ENST00000536344.1_Silent_p.A41A|TRIM3_ENST00000537602.1_Silent_p.A160A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	160					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCAGGGCCGCCTTGTGCT	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		15672	0.0		0.001	False		,,,				2504	0.0				Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(478-480)gcG>gcA		tripartite motif containing 3							50.0	49.0	49.0					11																	6478961		2200	4296	6496	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478961C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.480G>A	11.37:g.6478961C>T						TRIM3_ENST00000536344.1_Silent_p.A41A|TRIM3_ENST00000537602.1_Silent_p.A160A|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Silent_p.A160A|TRIM3_ENST00000359518.3_Silent_p.A160A	p.A160A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	874	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	160					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.480G>A	CCDS7764.1																																																																																				0.687	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		39	61	0	0	0	1	0	39	61				
NLRP2	55655	broad.mit.edu	37	19	55497518	55497518	+	Splice_Site	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:55497518G>T	ENST00000543010.1	+	8	2344		c.e8-1		NLRP2_ENST00000538819.1_Splice_Site|NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site|NLRP2_ENST00000339757.7_Splice_Site	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2						positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTTTTCCCTAGGTTCAAAAAC	0.423																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.e8-1		NLR family, pyrin domain containing 2							80.0	66.0	71.0					19																	55497518		2203	4300	6503	SO:0001630	splice_region_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55497518G>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2202-1G>T	19.37:g.55497518G>T						NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000339757.7_Splice_Site|NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site		NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	8	2344	+								B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Splice_Site	SNP	ENST00000543010.1	37		CCDS12913.1	.	.	.	.	.	.	.	.	.	.	g	9.131	1.011330	0.19277	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	.	.	.	2.55	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8176	0.35004	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP2	60189330	0.195000	0.23338	0.508000	0.27688	0.104000	0.19210	2.269000	0.43346	1.753000	0.51906	0.650000	0.86243	.		0.423	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	Intron	15	27	1	0	1.05317e-09	1	1.1155e-09	15	27				
CHODL	140578	broad.mit.edu	37	21	19629084	19629084	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:19629084G>A	ENST00000299295.2	+	2	729	c.338G>A	c.(337-339)gGt>gAt	p.G113D	CHODL_ENST00000338326.3_Missense_Mutation_p.G72D|CHODL_ENST00000400127.1_Missense_Mutation_p.G72D|CHODL_ENST00000400135.1_Missense_Mutation_p.G72D|CHODL_ENST00000400128.1_Missense_Mutation_p.G72D|CHODL_ENST00000400131.1_Missense_Mutation_p.G72D|CHODL_ENST00000543733.1_Missense_Mutation_p.G94D	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	113	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CAAACATCTGGTGCCTGCCCA	0.507																																						ENST00000299295.2																			0				kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(337-339)gGt>gAt		chondrolectin							100.0	105.0	104.0					21																	19629084		2203	4300	6503	SO:0001583	missense	140578				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	g.chr21:19629084G>A	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.338G>A	21.37:g.19629084G>A	ENSP00000299295:p.Gly113Asp					CHODL_ENST00000400127.1_Missense_Mutation_p.G72D|CHODL_ENST00000400131.1_Missense_Mutation_p.G72D|CHODL_ENST00000400135.1_Missense_Mutation_p.G72D|CHODL_ENST00000543733.1_Missense_Mutation_p.G94D|CHODL_ENST00000338326.3_Missense_Mutation_p.G72D|CHODL_ENST00000400128.1_Missense_Mutation_p.G72D	p.G113D	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	2	729	+		all_epithelial(11;0.21)	113			C-type lectin.		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	37	c.338G>A	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809042	0.70797	.	.	ENSG00000154645	ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.69	5.69	0.88448	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.308331	0.39341	N	0.001392	T	0.32255	0.0823	L	0.58101	1.795	0.43647	D	0.996058	P;B;P	0.49961	0.801;0.051;0.93	P;B;P	0.52909	0.522;0.045;0.713	T	0.00380	-1.1776	9	.	.	.	-21.4045	18.8097	0.92053	0.0:0.0:1.0:0.0	.	113;94;72	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	D	72;72;72;72;113;72;94	ENSP00000382993:G72D;ENSP00000382996:G72D;ENSP00000383001:G72D;ENSP00000382992:G72D;ENSP00000299295:G113D;ENSP00000339975:G72D;ENSP00000443566:G94D	.	G	+	2	0	CHODL	18550955	0.773000	0.28580	1.000000	0.80357	0.966000	0.64601	3.513000	0.53414	2.679000	0.91253	0.650000	0.86243	GGT		0.507	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944		45	61	0	0	0	1	0	45	61				
MERTK	10461	broad.mit.edu	37	2	112786408	112786408	+	Silent	SNP	C	C	T	rs140956730		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:112786408C>T	ENST00000295408.4	+	19	3224	c.2967C>T	c.(2965-2967)gaC>gaT	p.D989D	MERTK_ENST00000421804.2_Silent_p.D989D|MERTK_ENST00000409780.1_Silent_p.D813D			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	989					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGTTTGCTGACGACTCCTCAG	0.502																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2965-2967)gaC>gaT		c-mer proto-oncogene tyrosine kinase		C		1,4405	2.1+/-5.4	0,1,2202	50.0	51.0	51.0		2967	-9.1	0.0	2	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	MERTK	NM_006343.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		989/1000	112786408	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786408C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2967C>T	2.37:g.112786408C>T						MERTK_ENST00000409780.1_Silent_p.D813D|MERTK_ENST00000421804.2_Silent_p.D989D	p.D989D			Q12866	MERTK_HUMAN			19	3224	+			989					Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.2967C>T	CCDS2094.1																																																																																				0.502	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			25	29	0	0	0	1	0	25	29				
MGAT5	4249	broad.mit.edu	37	2	135119889	135119889	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:135119889G>A	ENST00000409645.1	+	11	1542	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	MGAT5_ENST00000281923.2_Silent_p.Q430Q			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	430					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGGTTGAGCAGCACCTGAACT	0.458																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(1288-1290)caG>caA		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							203.0	210.0	208.0					2																	135119889		2203	4300	6503	SO:0001819	synonymous_variant	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135119889G>A	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1290G>A	2.37:g.135119889G>A						MGAT5_ENST00000281923.2_Silent_p.Q430Q	p.Q430Q			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	11	1542	+			430					D3DP70	Silent	SNP	ENST00000409645.1	37	c.1290G>A	CCDS2171.1																																																																																				0.458	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		86	119	0	0	0	1	0	86	119				
SPATA13	221178	broad.mit.edu	37	13	24860369	24860369	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:24860369C>T	ENST00000382095.4	+	5	851	c.444C>T	c.(442-444)aaC>aaT	p.N148N	SPATA13_ENST00000409126.1_Silent_p.N70N|SPATA13_ENST00000424834.2_Silent_p.N773N|SPATA13_ENST00000343003.6_Silent_p.N92N|RP11-307N16.6_ENST00000382141.4_Silent_p.N651N|SPATA13_ENST00000399949.2_Silent_p.N70N|SPATA13_ENST00000382108.3_Silent_p.N773N	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	148	ABR (APC-binding region) domain.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTGATGGCAACGTGGTCTGCG	0.587																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2317-2319)aaC>aaT		spermatogenesis associated 13							128.0	118.0	121.0					13																	24860369		2203	4300	6503	SO:0001819	synonymous_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24860369C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.444C>T	13.37:g.24860369C>T						SPATA13_ENST00000382095.4_Silent_p.N148N|SPATA13_ENST00000409126.1_Silent_p.N70N|SPATA13_ENST00000399949.2_Silent_p.N70N|SPATA13_ENST00000382108.3_Silent_p.N773N|SPATA13_ENST00000343003.6_Silent_p.N92N	p.N773N			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	8	2792	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	148					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	c.2319C>T	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	C	0.656	-0.807490	0.02819	.	.	ENSG00000182957	ENST00000424834	.	.	.	5.25	-8.84	0.00803	.	.	.	.	.	T	0.63010	0.2475	.	.	.	0.39784	D	0.972346	.	.	.	.	.	.	T	0.70702	-0.4799	4	.	.	.	.	17.2468	0.87030	0.0:0.676:0.0:0.324	.	.	.	.	C	811	.	.	R	+	1	0	SPATA13	23758369	0.138000	0.22547	0.890000	0.34922	0.065000	0.16274	-0.394000	0.07296	-1.168000	0.02776	-1.202000	0.01658	CGT		0.587	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		57	81	0	0	0	1	0	57	81				
POMT1	10585	broad.mit.edu	37	9	134381807	134381807	+	Missense_Mutation	SNP	G	G	A	rs530211718		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:134381807G>A	ENST00000372228.3	+	4	426	c.247G>A	c.(247-249)Gat>Aat	p.D83N	POMT1_ENST00000419118.2_De_novo_Start_OutOfFrame|POMT1_ENST00000354713.4_Missense_Mutation_p.R47Q|POMT1_ENST00000341012.7_Missense_Mutation_p.D29N|POMT1_ENST00000404875.2_De_novo_Start_OutOfFrame|POMT1_ENST00000423007.1_Missense_Mutation_p.D83N|POMT1_ENST00000402686.3_Missense_Mutation_p.D83N|POMT1_ENST00000541219.1_De_novo_Start_InFrame	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	83					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AGGAGGATTCGATGGCAATTT	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		19314	0.001		0.0	False		,,,				2504	0.0					ENST00000404875.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31								protein-O-mannosyltransferase 1							219.0	218.0	218.0					9																	134381807		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134381807G>A	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.247G>A	9.37:g.134381807G>A	ENSP00000361302:p.Asp83Asn					POMT1_ENST00000419118.2_De_novo_Start_OutOfFrame|POMT1_ENST00000402686.3_Missense_Mutation_p.D83N|POMT1_ENST00000372228.3_Missense_Mutation_p.D83N|POMT1_ENST00000354713.4_Missense_Mutation_p.R47Q|POMT1_ENST00000341012.7_Missense_Mutation_p.D29N|POMT1_ENST00000541219.1_De_novo_Start_InFrame|POMT1_ENST00000423007.1_Missense_Mutation_p.D83N		NM_001136114.1	NP_001129586.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	0	190	+		Myeloproliferative disorder(178;0.204)						B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Translation_Start_Site	SNP	ENST00000372228.3	37		CCDS6943.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.47|17.47	3.398675|3.398675	0.62177|0.62177	.|.	.|.	ENSG00000130714|ENSG00000130714	ENST00000423007;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000418774;ENST00000448212|ENST00000354713	D;D;D;D;D;D|D	0.86297|0.81659	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1|-1.52	5.61|5.61	5.61|5.61	0.85477|0.85477	Glycosyl transferase, family 39 (1);|.	0.044730|.	0.85682|.	D|.	0.000000|.	T|T	0.72170|0.72170	0.3427|0.3427	L|L	0.35341|0.35341	1.055|1.055	0.80722|0.80722	D|D	1|1	D;P;P|B	0.53312|0.33528	0.959;0.921;0.772|0.416	B;B;B|B	0.43950|0.24974	0.364;0.437;0.38|0.057	T|T	0.71676|0.71676	-0.4521|-0.4521	10|9	0.17369|0.42905	T|T	0.5|0.14	-23.8907|-23.8907	18.6338|18.6338	0.91370|0.91370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	83;83;83|47	B4DWD8;Q9Y6A1;Q9Y6A1-2|B4DTW4	.;POMT1_HUMAN;.|.	N|Q	83;29;83;83;83;29|47	ENSP00000404119:D83N;ENSP00000343034:D29N;ENSP00000361302:D83N;ENSP00000385797:D83N;ENSP00000390737:D83N;ENSP00000403736:D29N|ENSP00000346748:R47Q	ENSP00000343034:D29N|ENSP00000346748:R47Q	D|R	+|+	1|2	0|0	POMT1|POMT1	133371628|133371628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	7.057000|7.057000	0.76669|0.76669	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.348	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		83	122	0	0	0	1	0	83	122				
ANKS1B	56899	broad.mit.edu	37	12	99145154	99145154	+	Silent	SNP	G	G	A	rs369534902		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:99145154G>A	ENST00000547776.2	-	25	3650	c.3651C>T	c.(3649-3651)cgC>cgT	p.R1217R	ANKS1B_ENST00000549025.2_Silent_p.R315R|ANKS1B_ENST00000546960.1_Silent_p.R443R|ANKS1B_ENST00000547446.1_Silent_p.R352R|ANKS1B_ENST00000550693.2_Silent_p.R407R|ANKS1B_ENST00000549493.2_Silent_p.R467R|ANKS1B_ENST00000546568.1_Silent_p.R383R|ANKS1B_ENST00000341752.7_Silent_p.R223R|ANKS1B_ENST00000329257.7_Silent_p.R1217R|ANKS1B_ENST00000547010.1_Silent_p.R733R|ANKS1B_ENST00000333732.7_Silent_p.R247R|ANKS1B_ENST00000549558.2_Silent_p.R383R|ANKS1B_ENST00000332712.7_Silent_p.R407R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1217						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAATGCTAACGCGGGGCTTGG	0.498																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(3649-3651)cgC>cgT		ankyrin repeat and sterile alpha motif domain containing 1B							113.0	114.0	114.0					12																	99145154		1847	4084	5931	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99145154G>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3651C>T	12.37:g.99145154G>A						ANKS1B_ENST00000550693.2_Silent_p.R407R|ANKS1B_ENST00000549493.2_Silent_p.R467R|ANKS1B_ENST00000547446.1_Silent_p.R352R|ANKS1B_ENST00000549025.2_Silent_p.R315R|ANKS1B_ENST00000341752.7_Silent_p.R223R|ANKS1B_ENST00000549558.2_Silent_p.R383R|ANKS1B_ENST00000329257.7_Silent_p.R1217R|ANKS1B_ENST00000547010.1_Silent_p.R733R|ANKS1B_ENST00000333732.7_Silent_p.R247R|ANKS1B_ENST00000546568.1_Silent_p.R383R|ANKS1B_ENST00000546960.1_Silent_p.R443R|ANKS1B_ENST00000332712.7_Silent_p.R407R	p.R1217R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	25	3650	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	1217					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.3651C>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509358	0.27036	.	.	ENSG00000185046	ENST00000550778	.	.	.	4.78	-7.75	0.01236	.	.	.	.	.	T	0.34658	0.0905	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42766	-0.9432	4	.	.	.	-6.6601	1.8357	0.03139	0.3073:0.0982:0.1189:0.4756	.	.	.	.	V	489	.	.	A	-	2	0	ANKS1B	97669285	0.000000	0.05858	0.926000	0.36857	0.998000	0.95712	-2.003000	0.01463	-1.086000	0.03084	0.561000	0.74099	GCG		0.498	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		18	32	0	0	0	1	0	18	32				
USH2A	7399	broad.mit.edu	37	1	215853543	215853543	+	Missense_Mutation	SNP	C	C	T	rs541873542	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:215853543C>T	ENST00000307340.3	-	62	12628	c.12242G>A	c.(12241-12243)cGg>cAg	p.R4081Q	USH2A_ENST00000366943.2_Missense_Mutation_p.R4081Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4081	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGCAATGCCCGGCCATTCTC	0.408										HNSCC(13;0.011)			C|||	2	0.000399361	0.0	0.0	5008	,	,		19292	0.0		0.0	False		,,,				2504	0.002					ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(12241-12243)cGg>cAg		Usher syndrome 2A (autosomal recessive, mild)							168.0	156.0	160.0					1																	215853543		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215853543C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12242G>A	1.37:g.215853543C>T	ENSP00000305941:p.Arg4081Gln	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R4081Q	p.R4081Q			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	62	12628	-			4081			Fibronectin type-III 26.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12242G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324104	0.60634	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54279	0.58;0.58	5.26	2.31	0.28768	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.202899	0.22491	N	0.059371	T	0.41789	0.1174	L	0.54965	1.715	0.39751	D	0.97189	B	0.30193	0.272	B	0.17433	0.018	T	0.33471	-0.9867	10	0.40728	T	0.16	.	8.9881	0.36005	0.0:0.7097:0.0:0.2902	.	4081	O75445	USH2A_HUMAN	Q	4081	ENSP00000305941:R4081Q;ENSP00000355910:R4081Q	ENSP00000305941:R4081Q	R	-	2	0	USH2A	213920166	0.555000	0.26530	0.889000	0.34880	0.969000	0.65631	0.745000	0.26259	0.597000	0.29811	0.655000	0.94253	CGG		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		47	74	0	0	0	1	0	47	74				
S1PR2	9294	broad.mit.edu	37	19	10335188	10335188	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:10335188C>T	ENST00000590320.1	-	2	504	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	132					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCAATGGCCACGTGGCGCTCA	0.637																																					Pancreas(194;229 3020 15179 45747)	ENST00000590320.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(394-396)Gtg>Atg		sphingosine-1-phosphate receptor 2							44.0	41.0	42.0					19																	10335188		2203	4300	6503	SO:0001583	missense	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10335188C>T	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.394G>A	19.37:g.10335188C>T	ENSP00000466933:p.Val132Met						p.V132M	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN			2	504	-			132					Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	c.394G>A	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124120	0.56613	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.144437	0.45606	D	0.000357	T	0.75125	0.3807	M	0.63208	1.945	0.46564	D	0.999105	D	0.71674	0.998	D	0.64237	0.923	T	0.72014	-0.4418	9	0.31617	T	0.26	.	18.0738	0.89421	0.0:1.0:0.0:0.0	.	132	O95136	S1PR2_HUMAN	M	132	.	ENSP00000322049:V132M	V	-	1	0	S1PR2	10196188	0.856000	0.29760	0.996000	0.52242	0.945000	0.59286	0.831000	0.27476	2.557000	0.86248	0.586000	0.80456	GTG		0.637	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		29	43	0	0	0	1	0	29	43				
PRKAR2A	5576	broad.mit.edu	37	3	48802450	48802450	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:48802450C>T	ENST00000265563.8	-	8	1109	c.860G>A	c.(859-861)cGc>cAc	p.R287H	PRKAR2A_ENST00000454963.1_Missense_Mutation_p.R287H|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.R287H	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	287					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		AGTGATTATGCGTTCTCCATC	0.408																																						ENST00000265563.8																		SLC26A6/PRKAR2A(2)	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6						c.(859-861)cGc>cAc		protein kinase, cAMP-dependent, regulatory, type II, alpha							122.0	109.0	114.0					3																	48802450		2203	4300	6503	SO:0001583	missense	5576				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr3:48802450C>T		CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.860G>A	3.37:g.48802450C>T	ENSP00000265563:p.Arg287His					PRKAR2A_ENST00000296446.8_Missense_Mutation_p.R287H|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.R287H	p.R287H	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)	8	1109	-			287					Q16823|Q9BUB1	Missense_Mutation	SNP	ENST00000265563.8	37	c.860G>A	CCDS2778.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448723	0.63178	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446	D;D;T	0.92595	-3.07;-3.07;0.98	4.8	3.91	0.45181	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.060923	0.64402	D	0.000002	D	0.90889	0.7137	L	0.43923	1.385	0.80722	D	1	D;B	0.60160	0.987;0.175	P;B	0.54401	0.751;0.076	D	0.87308	0.2310	10	0.14656	T	0.56	4.232	13.4504	0.61167	0.0:0.9229:0.0:0.0771	.	287;287	Q9BUB1;P13861	.;KAP2_HUMAN	H	287	ENSP00000265563:R287H;ENSP00000394041:R287H;ENSP00000296446:R287H	ENSP00000265563:R287H	R	-	2	0	PRKAR2A	48777454	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.856000	0.48341	2.518000	0.84900	0.563000	0.77884	CGC		0.408	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1			12	22	0	0	0	1	0	12	22				
DHX57	90957	broad.mit.edu	37	2	39088332	39088332	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:39088332A>T	ENST00000295373.6	-	5	1346	c.1220T>A	c.(1219-1221)gTc>gAc	p.V407D	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	407							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGAATATACGACAGGTTCCGA	0.403																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1219-1221)gTc>gAc		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							96.0	98.0	98.0					2																	39088332		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39088332A>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1220T>A	2.37:g.39088332A>T	ENSP00000295373:p.Val407Asp					DHX57_ENST00000479345.2_5'UTR	p.V407D	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			5	1346	-		all_hematologic(82;0.248)	407					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.1220T>A	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238492	0.58886	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.29655	1.56	5.67	4.52	0.55395	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.000000	0.47852	D	0.000208	T	0.43765	0.1262	L	0.48642	1.525	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71414	0.95;0.973	T	0.23476	-1.0187	10	0.44086	T	0.13	.	8.8205	0.35023	0.8565:0.0:0.1435:0.0	.	407;407	Q6P158-2;Q6P158	.;DHX57_HUMAN	D	407;305	ENSP00000295373:V407D	ENSP00000295373:V407D	V	-	2	0	DHX57	38941836	0.997000	0.39634	0.992000	0.48379	0.689000	0.40095	3.601000	0.54059	0.989000	0.38761	0.533000	0.62120	GTC		0.403	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		53	69	0	0	0	1	0	53	69				
BMP1	649	broad.mit.edu	37	8	22035142	22035142	+	Intron	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:22035142T>C	ENST00000306385.5	+	6	1400				BMP1_ENST00000397816.3_Intron|BMP1_ENST00000397814.3_Intron|BMP1_ENST00000306349.8_Intron|BMP1_ENST00000354870.5_Missense_Mutation_p.C265R	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TTCCTTCCCATGTTCCCTTGA	0.612																																						ENST00000354870.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(793-795)Tgt>Cgt		bone morphogenetic protein 1							256.0	242.0	247.0					8																	22035142		876	1991	2867	SO:0001627	intron_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22035142T>C		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.731-223T>C	8.37:g.22035142T>C						BMP1_ENST00000397816.3_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000397814.3_Intron|BMP1_ENST00000306349.8_Intron	p.C265R			P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	6	1059	+			0			Metalloprotease.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.793T>C	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	T	6.391	0.440239	0.12104	.	.	ENSG00000168487	ENST00000354870	T	0.79940	-1.32	2.05	-0.419	0.12340	.	.	.	.	.	T	0.74756	0.3758	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.66204	-0.5982	6	0.87932	D	0	.	4.27	0.10782	0.0:0.3668:0.0:0.6332	.	.	.	.	R	265	ENSP00000346941:C265R	ENSP00000346941:C265R	C	+	1	0	BMP1	22091087	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.622000	0.02042	-0.117000	0.11872	0.402000	0.26972	TGT		0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		138	326	0	0	0	1	0	138	326				
ZFP36L2	678	broad.mit.edu	37	2	43451501	43451501	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:43451501C>T	ENST00000282388.3	-	2	1735	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	481					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGGCAGGCGGCGGCCAGGGTC	0.667																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(1441-1443)cGc>cAc		ZFP36 ring finger protein-like 2							7.0	8.0	8.0					2																	43451501		2167	4258	6425	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43451501C>T	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.1442G>A	2.37:g.43451501C>T	ENSP00000282388:p.Arg481His					THADA_ENST00000330266.7_Intron	p.R481H	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	1735	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	481					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.1442G>A	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177586	0.38413	.	.	ENSG00000152518	ENST00000282388	T	0.37584	1.19	3.99	3.11	0.35812	.	0.473335	0.15599	N	0.253994	T	0.29524	0.0736	L	0.35854	1.095	0.80722	D	1	B	0.18610	0.029	B	0.10450	0.005	T	0.08659	-1.0711	10	0.87932	D	0	-17.46	11.1835	0.48642	0.0:0.9071:0.0:0.0929	.	481	P47974	TISD_HUMAN	H	481	ENSP00000282388:R481H	ENSP00000282388:R481H	R	-	2	0	ZFP36L2	43305005	0.884000	0.30299	0.961000	0.40146	0.714000	0.41099	5.720000	0.68470	0.644000	0.30656	-0.266000	0.10368	CGC		0.667	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		7	9	0	0	0	1	0	7	9				
SPATA31A6	389730	broad.mit.edu	37	9	43627119	43627119	+	Missense_Mutation	SNP	G	G	A	rs570868586		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:43627119G>A	ENST00000332857.6	-	4	1596	c.1568C>T	c.(1567-1569)gCa>gTa	p.A523V	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	523					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATTCTGCGATGCAGGGCAAGC	0.502																																						ENST00000332857.6																			0											c.(1567-1569)gCa>gTa		SPATA31 subfamily A, member 6							11.0	12.0	12.0					9																	43627119		609	1528	2137	SO:0001583	missense	389730							g.chr9:43627119G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1568C>T	9.37:g.43627119G>A	ENSP00000329825:p.Ala523Val						p.A523V	NM_001145196.1	NP_001138668.1					4	1596	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1568C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382140	0.24944	.	.	ENSG00000185775	ENST00000332857	T	0.07327	3.2	2.35	0.176	0.15049	.	1.425510	0.04301	N	0.347364	T	0.14874	0.0359	L	0.53249	1.67	0.09310	N	1	P	0.41313	0.745	P	0.47915	0.561	T	0.30001	-0.9993	10	0.46703	T	0.11	.	6.5876	0.22630	0.0:0.0:0.4616:0.5384	.	523	Q5VVP1	F75A6_HUMAN	V	523	ENSP00000329825:A523V	ENSP00000329825:A523V	A	-	2	0	FAM75A6	43567115	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.330000	0.02675	0.057000	0.16193	0.383000	0.25322	GCA		0.502	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		150	208	0	0	0	1	0	150	208				
MICAL3	57553	broad.mit.edu	37	22	18364029	18364029	+	Intron	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:18364029A>T	ENST00000441493.2	-	16	2594				MICAL3_ENST00000429452.1_Missense_Mutation_p.V761E|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.V761E|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CAGGGTGATCACTTTTTTGGG	0.542																																						ENST00000429452.1																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2281-2283)gTg>gAg		microtubule associated monooxygenase, calponin and LIM domain containing 3							158.0	155.0	156.0					22																	18364029		1568	3582	5150	SO:0001627	intron_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18364029A>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2241+4614T>A	22.37:g.18364029A>T						MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.V761E|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000207726.7_Intron	p.V761E	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	17	2634	-		all_epithelial(15;0.198)	1248					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.2282T>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.450922	0.26074	.	.	ENSG00000093100	ENST00000429452	T	0.68181	-0.31	5.56	5.56	0.83823	.	.	.	.	.	T	0.46405	0.1391	.	.	.	0.27971	N	0.9364	P	0.37781	0.608	B	0.37943	0.261	T	0.37126	-0.9719	8	0.02654	T	1	.	14.2835	0.66228	1.0:0.0:0.0:0.0	.	761	B2RXJ5	.	E	761	ENSP00000414846:V761E	ENSP00000414846:V761E	V	-	2	0	XXbac-B461K10.4	16744029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.904000	0.63279	2.108000	0.64289	0.533000	0.62120	GTG		0.542	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			81	98	0	0	0	1	0	81	98				
DSCC1	79075	broad.mit.edu	37	8	120850597	120850597	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:120850597C>T	ENST00000313655.4	-	8	1189	c.975G>A	c.(973-975)ctG>ctA	p.L325L		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	325					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATCTACTTTCAGCAAAAATA	0.368																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(973-975)ctG>ctA		DNA replication and sister chromatid cohesion 1							111.0	113.0	112.0					8																	120850597		2203	4300	6503	SO:0001819	synonymous_variant	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120850597C>T		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.975G>A	8.37:g.120850597C>T							p.L325L	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		8	1189	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		325					Q969N5	Silent	SNP	ENST00000313655.4	37	c.975G>A	CCDS6330.1																																																																																				0.368	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		45	150	0	0	0	1	0	45	150				
GABRE	2564	broad.mit.edu	37	X	151123932	151123932	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:151123932C>T	ENST00000370328.3	-	8	1098	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	GABRE_ENST00000370325.1_Missense_Mutation_p.V349I|GABRE_ENST00000483564.1_5'UTR|AF274855.1_ENST00000582865.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	349					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGCAGAAGACGAAGCAGATG	0.488																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(1045-1047)Gtc>Atc		gamma-aminobutyric acid (GABA) A receptor, epsilon							135.0	117.0	123.0					X																	151123932		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151123932C>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1045G>A	X.37:g.151123932C>T	ENSP00000359353:p.Val349Ile					GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.V349I	p.V349I			P78334	GBRE_HUMAN			8	1098	-	Acute lymphoblastic leukemia(192;6.56e-05)		349					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.1045G>A	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.353262	0.01256	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.86627	-2.15;-2.15	5.78	-4.0	0.04057	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.784002	0.11159	N	0.593227	T	0.71517	0.3349	N	0.21194	0.64	0.58432	D	0.999995	B	0.29115	0.233	B	0.20384	0.029	T	0.47947	-0.9077	10	0.31617	T	0.26	.	5.7442	0.18110	0.2429:0.1827:0.0:0.5744	.	349	P78334	GBRE_HUMAN	I	349	ENSP00000359353:V349I;ENSP00000359350:V349I	ENSP00000359350:V349I	V	-	1	0	GABRE	150874588	0.215000	0.23574	0.040000	0.18447	0.051000	0.14879	-0.408000	0.07169	-0.929000	0.03757	-0.191000	0.12829	GTC		0.488	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		57	60	0	0	0	1	0	57	60				
C7orf25	79020	broad.mit.edu	37	7	42949408	42949408	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:42949408C>T	ENST00000350427.4	-	2	1367	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	C7orf25_ENST00000438029.1_Silent_p.T364T|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Silent_p.T422T|C7orf25_ENST00000447342.1_Silent_p.T364T			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	364										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GGGTGTCTCCCGTCCCAAAAA	0.433																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(1090-1092)acG>acA		chromosome 7 open reading frame 25							85.0	82.0	83.0					7																	42949408		2203	4300	6503	SO:0001819	synonymous_variant	79020							g.chr7:42949408C>T	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.1092G>A	7.37:g.42949408C>T						C7orf25_ENST00000447342.1_Silent_p.T364T|C7orf25_ENST00000431882.2_Silent_p.T422T|C7orf25_ENST00000438029.1_Silent_p.T364T|PSMA2_ENST00000442788.1_3'UTR	p.T364T			Q9BPX7	CG025_HUMAN			2	1367	-			364					A4D1V2|J3KR36|Q9H779	Silent	SNP	ENST00000350427.4	37	c.1092G>A	CCDS5466.1																																																																																				0.433	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		41	37	0	0	0	1	0	41	37				
MYH10	4628	broad.mit.edu	37	17	8448900	8448900	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:8448900C>T	ENST00000269243.4	-	12	1405	c.1267G>A	c.(1267-1269)Gca>Aca	p.A423T	MYH10_ENST00000360416.3_Missense_Mutation_p.A433T|MYH10_ENST00000379980.4_Missense_Mutation_p.A439T|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000396239.1_Missense_Mutation_p.A423T	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	423	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGCCAATGCTTCTACTGCA	0.398																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1297-1299)Gca>Aca		myosin, heavy chain 10, non-muscle							86.0	88.0	87.0					17																	8448900		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8448900C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1267G>A	17.37:g.8448900C>T	ENSP00000269243:p.Ala423Thr					MYH10_ENST00000379980.4_Missense_Mutation_p.A439T|MYH10_ENST00000396239.1_Missense_Mutation_p.A423T|MYH10_ENST00000269243.4_Missense_Mutation_p.A423T	p.A433T	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			13	1435	-			423			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1297G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473879	0.96291	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96241	0.8774	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.986;0.982;1.0	D	0.97056	0.9767	10	0.87932	D	0	.	18.844	0.92196	0.0:1.0:0.0:0.0	.	432;433;423	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	T	423;433;423;439	ENSP00000269243:A423T;ENSP00000353590:A433T;ENSP00000379539:A423T;ENSP00000369315:A439T	ENSP00000269243:A423T	A	-	1	0	MYH10	8389625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.564000	0.82326	2.745000	0.94114	0.655000	0.94253	GCA		0.398	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			20	26	0	0	0	1	0	20	26				
CLCC1	23155	broad.mit.edu	37	1	109493059	109493059	+	Start_Codon_SNP	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:109493059T>C	ENST00000356970.2	-	2	108	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CLCC1_ENST00000348264.2_Start_Codon_SNP_p.M1V|CLCC1_ENST00000302500.4_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369968.2_Start_Codon_SNP_p.M1V|CLCC1_ENST00000415331.1_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369969.2_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369970.3_Start_Codon_SNP_p.M1V|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369971.2_Splice_Site_p.M1V			Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	1						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAACACAGCATCCTGTATAAG	0.299																																						ENST00000356970.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1-3)Atg>Gtg		chloride channel CLIC-like 1							64.0	55.0	58.0					1																	109493059		2203	4300	6503	SO:0001582	initiator_codon_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109493059T>C	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000356970.2:c.1A>G	1.37:g.109493059T>C	ENSP00000349456:p.Met1Val					CLCC1_ENST00000415331.1_Start_Codon_SNP_p.M1V|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369971.2_Splice_Site_p.M1_splice|CLCC1_ENST00000348264.2_Start_Codon_SNP_p.M1V|CLCC1_ENST00000302500.4_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369976.1_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369968.2_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369969.2_Start_Codon_SNP_p.M1V	p.M1V			Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	2	108	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	1					O94861|Q8WYP8|Q8WYP9|Q9BU25	Translation_Start_Site	SNP	ENST00000356970.2	37	c.1A>G	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598047	0.46318	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369976;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.58;0.62;0.68;0.58;0.68;0.62	5.5	5.5	0.81552	.	0.131141	0.64402	D	0.000003	T	0.67702	0.2921	.	.	.	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.997	D;D;D;D	0.78314	0.991;0.991;0.987;0.97	T	0.73322	-0.4019	9	0.87932	D	0	-18.8026	15.5722	0.76349	0.0:0.0:0.0:1.0	.	1;1;1;1	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	V	1	ENSP00000349456:M1V;ENSP00000358988:M1V;ENSP00000411591:M1V;ENSP00000358986:M1V;ENSP00000358985:M1V;ENSP00000358987:M1V;ENSP00000337243:M1V;ENSP00000306552:M1V	ENSP00000306552:M1V	M	-	1	0	CLCC1	109294582	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	2.896000	0.48656	2.216000	0.71823	0.482000	0.46254	ATG		0.299	CLCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127	Missense_Mutation	14	18	0	0	0	1	0	14	18				
DTX3L	151636	broad.mit.edu	37	3	122289431	122289431	+	Missense_Mutation	SNP	G	G	A	rs142707005		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:122289431G>A	ENST00000296161.4	+	4	2254	c.2065G>A	c.(2065-2067)Gtg>Atg	p.V689M	DTX3L_ENST00000383661.3_Missense_Mutation_p.V177M	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	689					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GATTTTTACAGTGGGGTACTC	0.433																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(2065-2067)Gtg>Atg		deltex 3-like (Drosophila)		G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	122.0	124.0	123.0		2065	4.1	1.0	3	dbSNP_134	123	0,8600		0,0,4300	no	missense	DTX3L	NM_138287.3	21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	689/741	122289431	2,13004	2203	4300	6503	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122289431G>A		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.2065G>A	3.37:g.122289431G>A	ENSP00000296161:p.Val689Met					DTX3L_ENST00000383661.3_Missense_Mutation_p.V177M	p.V689M	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	4	2254	+			689					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.2065G>A	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346780	0.41599	4.54E-4	0.0	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.50001	0.76;0.76	4.97	4.08	0.47627	.	0.164825	0.29459	N	0.012093	T	0.72439	0.3460	M	0.92317	3.295	0.33430	D	0.58099	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.82178	-0.0586	10	0.87932	D	0	-31.0986	9.0505	0.36374	0.1717:0.0:0.8283:0.0	.	177;689	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	M	689;177	ENSP00000296161:V689M;ENSP00000373157:V177M	ENSP00000296161:V689M	V	+	1	0	DTX3L	123772121	0.807000	0.29009	1.000000	0.80357	0.153000	0.21895	1.119000	0.31258	1.288000	0.44600	0.561000	0.74099	GTG		0.433	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		34	57	0	0	0	1	0	34	57				
MGAT3	4248	broad.mit.edu	37	22	39883622	39883622	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:39883622C>T	ENST00000341184.6	+	2	485	c.270C>T	c.(268-270)gcC>gcT	p.A90A		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	90					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCAAGGCGGCCGAGGAGCTCC	0.701																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(268-270)gcC>gcT		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							20.0	25.0	23.0					22																	39883622		2191	4280	6471	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883622C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.270C>T	22.37:g.39883622C>T							p.A90A	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	485	+	Melanoma(58;0.04)		90					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.270C>T	CCDS13994.2																																																																																				0.701	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		36	57	0	0	0	1	0	36	57				
FAM214B	80256	broad.mit.edu	37	9	35105812	35105812	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:35105812C>T	ENST00000378561.1	-	7	4385	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M	FAM214B_ENST00000378554.2_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.V444M|STOML2_ENST00000356493.5_5'Flank|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000605244.1_Missense_Mutation_p.V444M|STOML2_ENST00000452248.2_5'Flank|FAM214B_ENST00000603301.1_Missense_Mutation_p.V444M|FAM214B_ENST00000488109.2_Missense_Mutation_p.V444M|FAM214B_ENST00000378557.1_Missense_Mutation_p.V444M|FAM214B_ENST00000378566.1_Missense_Mutation_p.V139M			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	444						nucleus (GO:0005634)											TCAAAGGTCACAAGGAACATC	0.547																																						ENST00000378561.1																			0											c.(1330-1332)Gtg>Atg		family with sequence similarity 214, member B							160.0	134.0	143.0					9																	35105812		2203	4300	6503	SO:0001583	missense	80256					nucleus		g.chr9:35105812C>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.1330G>A	9.37:g.35105812C>T	ENSP00000367823:p.Val444Met					FAM214B_ENST00000488109.2_Missense_Mutation_p.V444M|FAM214B_ENST00000378566.1_Missense_Mutation_p.V139M|FAM214B_ENST00000603301.1_Missense_Mutation_p.V444M|FAM214B_ENST00000322813.5_Missense_Mutation_p.V444M|FAM214B_ENST00000605244.1_Missense_Mutation_p.V444M|FAM214B_ENST00000378557.1_Missense_Mutation_p.V444M|FAM214B_ENST00000378554.2_Intron	p.V444M			Q7L5A3	K1539_HUMAN			7	4385	-			444					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.1330G>A	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879274	0.91740	.	.	ENSG00000005238	ENST00000378566;ENST00000322813;ENST00000378561;ENST00000378557	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80688	-0.1271	9	0.87932	D	0	-11.1528	19.0374	0.92985	0.0:1.0:0.0:0.0	.	444	Q7L5A3	K1539_HUMAN	M	139;444;444;444	.	ENSP00000319897:V444M	V	-	1	0	KIAA1539	35095812	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.285000	0.78660	2.831000	0.97527	0.561000	0.74099	GTG		0.547	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		24	42	0	0	0	1	0	24	42				
GSR	2936	broad.mit.edu	37	8	30560725	30560725	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:30560725G>T	ENST00000221130.5	-	5	615	c.525C>A	c.(523-525)gcC>gcA	p.A175A	GSR_ENST00000541648.1_Silent_p.A175A|GSR_ENST00000537535.1_Silent_p.A175A|GSR_ENST00000414019.1_Silent_p.A132A|GSR_ENST00000546342.1_Silent_p.A175A	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	175					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	CACTCGTGAAGGCTGCATGGC	0.483																																						ENST00000221130.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23						c.(523-525)gcC>gcA		glutathione reductase	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						200.0	168.0	179.0					8																	30560725		2203	4300	6503	SO:0001819	synonymous_variant	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30560725G>T		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.525C>A	8.37:g.30560725G>T						GSR_ENST00000546342.1_Silent_p.A175A|GSR_ENST00000541648.1_Silent_p.A175A|GSR_ENST00000537535.1_Silent_p.A175A|GSR_ENST00000414019.1_Silent_p.A132A	p.A175A	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	5	615	-			175					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Silent	SNP	ENST00000221130.5	37	c.525C>A	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	G	0.998	-0.691942	0.03303	.	.	ENSG00000104687	ENST00000520888	.	.	.	6.14	-12.3	0.00002	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47182	-0.9137	4	.	.	.	-11.2127	4.7682	0.13142	0.1569:0.2969:0.4217:0.1246	.	.	.	.	I	131	.	.	L	-	1	0	GSR	30680267	0.000000	0.05858	0.003000	0.11579	0.055000	0.15305	-1.364000	0.02590	-2.116000	0.00830	-1.157000	0.01802	CTT		0.483	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			13	198	1	0	4.3838e-07	1	4.56061e-07	13	198				
C16orf59	80178	broad.mit.edu	37	16	2511156	2511156	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2511156T>G	ENST00000361837.4	+	4	601	c.536T>G	c.(535-537)cTc>cGc	p.L179R	C16orf59_ENST00000569496.1_Missense_Mutation_p.L179R|C16orf59_ENST00000483320.1_Missense_Mutation_p.L12R|C16orf59_ENST00000563531.1_Missense_Mutation_p.L179R|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	179										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGGGCGGGCCTCAGGGACCAG	0.677																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(535-537)cTc>cGc		chromosome 16 open reading frame 59							11.0	13.0	13.0					16																	2511156		1875	4098	5973	SO:0001583	missense	80178							g.chr16:2511156T>G	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.536T>G	16.37:g.2511156T>G	ENSP00000355022:p.Leu179Arg					C16orf59_ENST00000361837.4_Missense_Mutation_p.L179R|C16orf59_ENST00000563531.1_Missense_Mutation_p.L179R|C16orf59_ENST00000483320.1_Missense_Mutation_p.L12R	p.L179R			Q7L2K0	CP059_HUMAN			4	595	+		Ovarian(90;0.17)	179					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.536T>G	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352388	0.24512	.	.	ENSG00000162062	ENST00000361837	T	0.50001	0.76	4.02	-1.02	0.10135	.	0.369123	0.19886	N	0.103854	T	0.37544	0.1007	M	0.62723	1.935	0.09310	N	1	B;P;P;P	0.35348	0.356;0.496;0.496;0.496	B;B;B;B	0.38264	0.127;0.178;0.269;0.178	T	0.37361	-0.9709	10	0.72032	D	0.01	-0.9392	0.5474	0.00656	0.1718:0.1997:0.1779:0.4506	.	12;179;12;12	Q7L2K0-3;Q7L2K0;D3DU95;Q7L2K0-2	.;CP059_HUMAN;.;.	R	179	ENSP00000355022:L179R	ENSP00000355022:L179R	L	+	2	0	C16orf59	2451157	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	-0.455000	0.06762	-0.213000	0.10094	0.533000	0.62120	CTC		0.677	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		14	24	0	0	0	1	0	14	24				
RAC3	5881	broad.mit.edu	37	17	79991680	79991680	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:79991680C>T	ENST00000306897.4	+	6	692	c.554C>T	c.(553-555)cCg>cTg	p.P185L	DCXR_ENST00000584318.1_5'Flank	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	185					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GTGAAGAAGCCGGGGAAGAAG	0.652																																						ENST00000306897.4																			0				NS(1)|kidney(1)|skin(1)	3						c.(553-555)cCg>cTg		ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)							27.0	26.0	26.0					17																	79991680		2193	4295	6488	SO:0001583	missense	5881				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79991680C>T	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.554C>T	17.37:g.79991680C>T	ENSP00000304283:p.Pro185Leu						p.P185L	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		6	692	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		185					O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	37	c.554C>T	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	c	10.58	1.389482	0.25118	.	.	ENSG00000169750	ENST00000306897	T	0.65178	-0.14	3.74	2.74	0.32292	.	0.385803	0.24671	N	0.036551	T	0.41926	0.1180	N	0.14661	0.345	0.46981	D	0.999278	B	0.06786	0.001	B	0.09377	0.004	T	0.14924	-1.0455	9	.	.	.	.	13.0013	0.58676	0.0:0.8361:0.1639:0.0	.	185	P60763	RAC3_HUMAN	L	185	ENSP00000304283:P185L	.	P	+	2	0	RAC3	77584969	0.998000	0.40836	0.233000	0.24025	0.338000	0.28826	3.233000	0.51311	0.741000	0.32674	0.586000	0.80456	CCG		0.652	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			17	7	0	0	0	1	0	17	7				
TMEM176B	28959	broad.mit.edu	37	7	150490215	150490215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:150490215C>T	ENST00000447204.2	-	5	933	c.561G>A	c.(559-561)tgG>tgA	p.W187*	TMEM176B_ENST00000492607.1_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000434545.1_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000450753.2_Nonsense_Mutation_p.W150*|TMEM176B_ENST00000326442.5_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000429904.2_Nonsense_Mutation_p.W187*	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	187					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCTTCTGCCATTGGTTCT	0.527																																						ENST00000447204.2																			0				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(559-561)tgG>tgA		transmembrane protein 176B							143.0	118.0	126.0					7																	150490215		2203	4300	6503	SO:0001587	stop_gained	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150490215C>T	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.561G>A	7.37:g.150490215C>T	ENSP00000410269:p.Trp187*					TMEM176B_ENST00000492607.1_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000434545.1_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000429904.2_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000326442.5_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000450753.2_Nonsense_Mutation_p.W150*	p.W187*	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	933	-			187					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Nonsense_Mutation	SNP	ENST00000447204.2	37	c.561G>A	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933859	0.73442	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	.	.	.	3.7	3.7	0.42460	.	0.934134	0.09032	N	0.858642	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-4.216	11.6847	0.51479	0.0:1.0:0.0:0.0	.	.	.	.	X	187;187;187;187;187;150;187	.	ENSP00000318409:W187X	W	-	3	0	TMEM176B	150121148	0.608000	0.26966	0.138000	0.22173	0.009000	0.06853	2.464000	0.45067	2.023000	0.59567	0.448000	0.29417	TGG		0.527	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		27	58	0	0	0	1	0	27	58				
AKR1CL1	340811	broad.mit.edu	37	10	5204938	5204938	+	Missense_Mutation	SNP	C	C	T	rs555305935		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:5204938C>T	ENST00000334314.3	-	2	215	c.139G>A	c.(139-141)Gta>Ata	p.V47I	AKR1CL1_ENST00000465430.1_5'Flank			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1	47						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CGGAAGCCTACGTCAATAGCC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		17028	0.0		0.0	False		,,,				2504	0.001				Ovarian(129;1623 1737 25446 28757 47467)	ENST00000334314.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(139-141)Gta>Ata		aldo-keto reductase family 1, member C-like 1							109.0	106.0	107.0					10																	5204938		2203	4300	6503	SO:0001583	missense	340811							g.chr10:5204938C>T			10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.139G>A	10.37:g.5204938C>T	ENSP00000334626:p.Val47Ile						p.V47I							2	215	-								A6NF66|Q6ZN81	Missense_Mutation	SNP	ENST00000334314.3	37	c.139G>A		.	.	.	.	.	.	.	.	.	.	C	11.76	1.733731	0.30684	.	.	ENSG00000196326	ENST00000488756;ENST00000334314	T;T	0.24350	1.86;1.86	3.33	3.33	0.38152	.	0.338356	0.19162	U	0.121163	T	0.23289	0.0563	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.13388	-1.0511	7	0.22706	T	0.39	.	12.486	0.55872	0.0:1.0:0.0:0.0	.	.	.	.	I	47	ENSP00000417935:V47I;ENSP00000334626:V47I	ENSP00000334626:V47I	V	-	1	0	AKR1CL1	5194938	0.006000	0.16342	0.003000	0.11579	0.023000	0.10783	2.267000	0.43329	1.591000	0.50007	0.305000	0.20034	GTA		0.473	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NR_027916		72	81	0	0	0	1	0	72	81				
FHDC1	85462	broad.mit.edu	37	4	153864220	153864220	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:153864220T>G	ENST00000511601.1	+	2	199	c.11T>G	c.(10-12)aTg>aGg	p.M4R	FHDC1_ENST00000260008.3_Missense_Mutation_p.M4R			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	4									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATGCATGTTATGAATTGTGTC	0.448																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(10-12)aTg>aGg		FH2 domain containing 1							109.0	102.0	104.0					4																	153864220		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153864220T>G	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.11T>G	4.37:g.153864220T>G	ENSP00000427567:p.Met4Arg					FHDC1_ENST00000260008.3_Missense_Mutation_p.M4R	p.M4R			Q9C0D6	FHDC1_HUMAN			2	199	+	all_hematologic(180;0.093)		4						Missense_Mutation	SNP	ENST00000511601.1	37	c.11T>G	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	t	17.24	3.340601	0.60963	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.41400	1.0;1.0	5.48	5.48	0.80851	.	0.199562	0.43919	D	0.000517	T	0.56202	0.1969	L	0.52364	1.645	0.58432	D	0.999991	D	0.71674	0.998	P	0.62014	0.897	T	0.56469	-0.7974	10	0.49607	T	0.09	.	15.563	0.76266	0.0:0.0:0.0:1.0	.	4	Q9C0D6	FHDC1_HUMAN	R	4	ENSP00000427567:M4R;ENSP00000260008:M4R	ENSP00000260008:M4R	M	+	2	0	FHDC1	154083670	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.218000	0.58554	2.086000	0.62901	0.378000	0.23410	ATG		0.448	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		37	32	0	0	0	1	0	37	32				
CTCF	10664	broad.mit.edu	37	16	67650654	67650654	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67650654G>A	ENST00000264010.4	+	5	1403	c.959G>A	c.(958-960)cGt>cAt	p.R320H	CTCF_ENST00000401394.1_5'UTR|AC009095.4_ENST00000388909.4_RNA	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	320					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CTAGGTACTCGTCCTCACAAG	0.488																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(958-960)cGt>cAt		CCCTC-binding factor (zinc finger protein)							263.0	228.0	240.0					16																	67650654		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67650654G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.959G>A	16.37:g.67650654G>A	ENSP00000264010:p.Arg320His					CTCF_ENST00000401394.1_5'UTR	p.R320H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	5	1403	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	320					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.959G>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052912	0.75960	.	.	ENSG00000102974	ENST00000264010	T	0.20332	2.08	4.89	4.89	0.63831	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.082997	0.51477	D	0.000085	T	0.50326	0.1609	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.57911	-0.7729	10	0.62326	D	0.03	.	18.2991	0.90157	0.0:0.0:1.0:0.0	.	320	P49711	CTCF_HUMAN	H	320	ENSP00000264010:R320H	ENSP00000264010:R320H	R	+	2	0	CTCF	66208155	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.602000	0.82796	2.553000	0.86117	0.555000	0.69702	CGT		0.488	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		104	124	0	0	0	1	0	104	124				
AK8	158067	broad.mit.edu	37	9	135702409	135702409	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:135702409C>T	ENST00000298545.3	-	8	1110	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	197	Adenylate kinase 1.|LID 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.E197K(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ATTTCAGATTCGGGTGGCCAG	0.542																																						ENST00000298545.3																			2	Substitution - Missense(2)	p.E197K(2)	large_intestine(2)	NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(589-591)Gaa>Aaa		adenylate kinase 8							166.0	160.0	162.0					9																	135702409		2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135702409C>T	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.589G>A	9.37:g.135702409C>T	ENSP00000298545:p.Glu197Lys					AK8_ENST00000477396.1_5'UTR	p.E197K	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			8	1110	-			197					A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.589G>A	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059349	0.55325	.	.	ENSG00000165695	ENST00000298545	T	0.66815	-0.23	5.34	5.34	0.76211	Adenylate kinase, active site lid domain (1);	0.161652	0.52532	D	0.000070	T	0.66177	0.2763	M	0.62266	1.93	0.35699	D	0.815498	P	0.47841	0.901	B	0.41894	0.369	T	0.73104	-0.4088	10	0.30078	T	0.28	-26.0053	18.0257	0.89268	0.0:1.0:0.0:0.0	.	197	Q96MA6	KAD8_HUMAN	K	197	ENSP00000298545:E197K	ENSP00000298545:E197K	E	-	1	0	AK8	134692230	0.952000	0.32445	0.050000	0.19076	0.735000	0.41995	2.319000	0.43788	2.497000	0.84241	0.455000	0.32223	GAA		0.542	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		105	145	0	0	0	1	0	105	145				
LRP6	4040	broad.mit.edu	37	12	12334194	12334194	+	Missense_Mutation	SNP	G	G	A	rs148238873	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:12334194G>A	ENST00000261349.4	-	6	1232	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	LRP6_ENST00000543091.1_Missense_Mutation_p.R386C	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	386	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATAAATGAACGGCGTATGGCC	0.463													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20065	0.0		0.0	False		,,,				2504	0.0					ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(1156-1158)Cgt>Tgt		low density lipoprotein receptor-related protein 6		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	211.0	175.0	187.0		1156	5.8	1.0	12	dbSNP_134	187	0,8600		0,0,4300	yes	missense	LRP6	NM_002336.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	386/1614	12334194	2,13004	2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12334194G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1156C>T	12.37:g.12334194G>A	ENSP00000261349:p.Arg386Cys					LRP6_ENST00000543091.1_Missense_Mutation_p.R386C	p.R386C	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			6	1232	-		Prostate(47;0.0865)	386			Beta-propeller 2.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1156C>T	CCDS8647.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	29.6	5.021975	0.93462	4.54E-4	0.0	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96200	-3.94;-3.94	5.82	5.82	0.92795	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000006	D	0.97770	0.9268	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	D	0.96190	0.9137	10	0.72032	D	0.01	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	386;386	F5H7J9;O75581	.;LRP6_HUMAN	C	386	ENSP00000261349:R386C;ENSP00000442472:R386C	ENSP00000261349:R386C	R	-	1	0	LRP6	12225461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.508000	0.73721	2.752000	0.94435	0.655000	0.94253	CGT		0.463	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			65	94	0	0	0	1	0	65	94				
KRTAP13-4	284827	broad.mit.edu	37	21	31802764	31802764	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:31802764G>T	ENST00000334068.2	+	1	193	c.171G>T	c.(169-171)gaG>gaT	p.E57D		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	57	4 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CCTGCTGGGAGCCCGCCAGCT	0.617																																					NSCLC(196;2401 3038 18004 35753)	ENST00000334068.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						c.(169-171)gaG>gaT		keratin associated protein 13-4							59.0	59.0	59.0					21																	31802764		2203	4300	6503	SO:0001583	missense	284827					intermediate filament		g.chr21:31802764G>T	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.171G>T	21.37:g.31802764G>T	ENSP00000334834:p.Glu57Asp						p.E57D	NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN			1	193	+			57			4 X 10 AA approximate repeats.		A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	c.171G>T	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	12.30	1.897267	0.33535	.	.	ENSG00000186971	ENST00000334068	T	0.08458	3.09	4.95	3.12	0.35913	.	1.106130	0.07034	N	0.828890	T	0.16257	0.0391	M	0.82823	2.61	0.19945	N	0.99994	B	0.22746	0.074	B	0.24701	0.055	T	0.29458	-1.0011	10	0.56958	D	0.05	.	8.2375	0.31636	0.1904:0.0:0.8096:0.0	.	57	Q3LI77	KR134_HUMAN	D	57	ENSP00000334834:E57D	ENSP00000334834:E57D	E	+	3	2	KRTAP13-4	30724635	0.453000	0.25721	0.172000	0.22920	0.054000	0.15201	0.751000	0.26348	0.739000	0.32628	0.650000	0.86243	GAG		0.617	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			40	38	1	0	1.96642e-18	1	2.15299e-18	40	38				
MC2R	4158	broad.mit.edu	37	18	13885199	13885199	+	Missense_Mutation	SNP	C	C	T	rs104894661		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:13885199C>T	ENST00000327606.3	-	2	499	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	107			D -> N (in GCCD1). {ECO:0000269|PubMed:8636348}.		G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AACAGGGAGTCGATGATGTCA	0.498																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30	GRCh37	CM960958	MC2R	M	rs104894661	c.(319-321)Gac>Aac		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						121.0	86.0	98.0					18																	13885199		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885199C>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.319G>A	18.37:g.13885199C>T	ENSP00000333821:p.Asp107Asn						p.D107N	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	499	-			107		D -> N (in GCCD1).			A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.319G>A	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964431	0.74131	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;T	0.36520	2.15;1.25	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	M	0.88640	2.97	0.51767	A	0.999935	D	0.89917	1.0	D	0.97110	1.0	T	0.75563	-0.3274	9	0.72032	D	0.01	.	18.0219	0.89257	0.0:1.0:0.0:0.0	.	107	Q01718	ACTHR_HUMAN	N	107	ENSP00000333821:D107N;ENSP00000382718:D107N	ENSP00000333821:D107N	D	-	1	0	MC2R	13875199	1.000000	0.71417	0.947000	0.38551	0.578000	0.36192	5.411000	0.66386	2.313000	0.78055	0.650000	0.86243	GAC		0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			21	38	0	0	0	1	0	21	38				
SLC6A8	6535	broad.mit.edu	37	X	152960290	152960290	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:152960290C>T	ENST00000253122.5	+	12	2189	c.1713C>T	c.(1711-1713)tgC>tgT	p.C571C	SLC6A8_ENST00000430077.2_Silent_p.C456C|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	571					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCATGCTGTGCGTGCCGCTGC	0.662																																						ENST00000253122.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1711-1713)tgC>tgT		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)						36.0	30.0	32.0					X																	152960290		2202	4298	6500	SO:0001819	synonymous_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152960290C>T		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1713C>T	X.37:g.152960290C>T						SLC6A8_ENST00000430077.2_Silent_p.C456C|SLC6A8_ENST00000485324.1_3'UTR	p.C571C	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN			12	2189	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		571					B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	c.1713C>T	CCDS14726.1																																																																																				0.662	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			11	19	0	0	0	1	0	11	19				
SLC16A10	117247	broad.mit.edu	37	6	111409147	111409147	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:111409147C>T	ENST00000368851.5	+	1	367	c.192C>T	c.(190-192)ccC>ccT	p.P64P		NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	64					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CCCCCGAACCCCCCGAGGGCG	0.731																																						ENST00000368851.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(190-192)ccC>ccT		solute carrier family 16 (aromatic amino acid transporter), member 10							15.0	16.0	15.0					6																	111409147		2157	4232	6389	SO:0001819	synonymous_variant	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111409147C>T	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.192C>T	6.37:g.111409147C>T							p.P64P	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	1	367	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	64					B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	c.192C>T	CCDS5089.1																																																																																				0.731	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			16	35	0	0	0	1	0	16	35				
PIK3C2G	5288	broad.mit.edu	37	12	18499635	18499635	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:18499635A>G	ENST00000266497.5	+	10	1528	c.1490A>G	c.(1489-1491)tAc>tGc	p.Y497C	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Y497C|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.Y497C|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Y497C			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	497	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATCAATGTCTACTGTAACAGC	0.423																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(1489-1491)tAc>tGc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							177.0	178.0	178.0					12																	18499635		1929	4128	6057	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18499635A>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1490A>G	12.37:g.18499635A>G	ENSP00000266497:p.Tyr497Cys					PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Y497C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Y497C|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.Y497C	p.Y497C	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			11	1606	+		Hepatocellular(102;0.194)	497					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.1490A>G	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541816	0.45280	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.76316	0.55;-0.67;-0.67;-1.01	3.98	3.98	0.46160	Phosphoinositide 3-kinase, C2 (1);	0.852017	0.10310	N	0.690156	D	0.85470	0.5704	M	0.70275	2.135	0.20975	N	0.999817	D;D;D	0.65815	0.992;0.995;0.992	P;P;P	0.61201	0.77;0.885;0.77	T	0.74272	-0.3719	10	0.87932	D	0	-8.5075	11.5817	0.50896	1.0:0.0:0.0:0.0	.	496;497;497	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	C	497	ENSP00000443850:Y497C;ENSP00000404845:Y497C;ENSP00000266497:Y497C;ENSP00000445381:Y497C	ENSP00000266497:Y497C	Y	+	2	0	PIK3C2G	18390902	0.852000	0.29690	0.015000	0.15790	0.926000	0.56050	3.680000	0.54641	2.030000	0.59900	0.454000	0.30748	TAC		0.423	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		21	46	0	0	0	1	0	21	46				
ALK	238	broad.mit.edu	37	2	29449848	29449848	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:29449848T>C	ENST00000389048.3	-	18	3913	c.3007A>G	c.(3007-3009)Aag>Gag	p.K1003E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1003					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CAGATGACCTTGTGGCTTTCA	0.557			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(3007-3009)Aag>Gag		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						241.0	213.0	223.0					2																	29449848		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29449848T>C	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3007A>G	2.37:g.29449848T>C	ENSP00000373700:p.Lys1003Glu					ALK_ENST00000431873.1_Intron	p.K1003E	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			18	3913	-	Acute lymphoblastic leukemia(172;0.155)		1003					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.3007A>G	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.850275	0.32699	.	.	ENSG00000171094	ENST00000389048	T	0.76578	-1.03	5.38	1.39	0.22231	.	0.000000	0.46758	U	0.000274	T	0.61362	0.2341	L	0.31065	0.9	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.43212	-0.9405	9	.	.	.	.	8.0637	0.30648	0.0:0.0704:0.3938:0.5358	.	1003	Q9UM73	ALK_HUMAN	E	1003	ENSP00000373700:K1003E	.	K	-	1	0	ALK	29303352	0.681000	0.27614	0.987000	0.45799	0.882000	0.50991	0.442000	0.21628	-0.004000	0.14419	0.383000	0.25322	AAG		0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		58	143	0	0	0	1	0	58	143				
RFC5	5985	broad.mit.edu	37	12	118463610	118463610	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:118463610C>T	ENST00000454402.2	+	7	758	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	RFC5_ENST00000392542.2_Missense_Mutation_p.R193C|RFC5_ENST00000229043.3_Missense_Mutation_p.R129C	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	214					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGAGACATGCGTAGGGCTCT	0.423																																						ENST00000392542.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9						c.(577-579)Cgt>Tgt		replication factor C (activator 1) 5, 36.5kDa							138.0	131.0	133.0					12																	118463610		2203	4300	6503	SO:0001583	missense	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding	g.chr12:118463610C>T		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.640C>T	12.37:g.118463610C>T	ENSP00000408295:p.Arg214Cys					RFC5_ENST00000229043.3_Missense_Mutation_p.R129C|RFC5_ENST00000454402.2_Missense_Mutation_p.R214C	p.R193C	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN			8	1110	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		214					A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	c.577C>T	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978405	0.74360	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.64803	0.09;0.33;-0.12	5.7	2.75	0.32379	.	0.052366	0.64402	D	0.000001	D	0.85894	0.5803	H	0.98866	4.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87219	0.2252	10	0.87932	D	0	0.144	10.7592	0.46256	0.2439:0.6402:0.1159:0.0	.	193;228;214	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	C	129;214;193	ENSP00000229043:R129C;ENSP00000408295:R214C;ENSP00000376325:R193C	ENSP00000229043:R129C	R	+	1	0	RFC5	116947993	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.793000	0.62474	0.277000	0.22141	0.650000	0.86243	CGT		0.423	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		38	55	0	0	0	1	0	38	55				
MUC5B	727897	broad.mit.edu	37	11	1265997	1265997	+	Silent	SNP	G	G	A	rs551355085	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:1265997G>A	ENST00000529681.1	+	31	7945	c.7887G>A	c.(7885-7887)acG>acA	p.T2629T	MUC5B_ENST00000447027.1_Silent_p.T2632T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2629	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2608T(1)|p.T2629T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCACGCACGCTTCCAGTGT	0.637																																						ENST00000447027.1																			2	Substitution - coding silent(2)	p.T2608T(1)|p.T2629T(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7894-7896)acG>acA		mucin 5B, oligomeric mucus/gel-forming							147.0	178.0	168.0					11																	1265997		2123	4233	6356	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265997G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7887G>A	11.37:g.1265997G>A						MUC5B_ENST00000529681.1_Silent_p.T2629T|RP11-532E4.2_ENST00000532061.2_RNA	p.T2632T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	7954	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2629	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.7896G>A	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		57	79	0	0	0	1	0	57	79				
E4F1	1877	broad.mit.edu	37	16	2282537	2282537	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2282537C>T	ENST00000301727.4	+	5	738	c.690C>T	c.(688-690)cgC>cgT	p.R230R	E4F1_ENST00000565090.1_Silent_p.R230R|E4F1_ENST00000564139.1_Silent_p.R230R	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	230	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CCTCCTTCCGCACCAAGGGCT	0.692																																						ENST00000301727.4																			0				ovary(1)	1						c.(688-690)cgC>cgT		E4F transcription factor 1							34.0	30.0	31.0					16																	2282537		2194	4299	6493	SO:0001819	synonymous_variant	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2282537C>T	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.690C>T	16.37:g.2282537C>T						E4F1_ENST00000564139.1_Silent_p.R230R|E4F1_ENST00000565090.1_Silent_p.R230R	p.R230R	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			5	738	+			230			Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.		A8K2R4|O00146	Silent	SNP	ENST00000301727.4	37	c.690C>T	CCDS32370.1																																																																																				0.692	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		12	29	0	0	0	1	0	12	29				
ZNF571	51276	broad.mit.edu	37	19	38056224	38056224	+	Missense_Mutation	SNP	C	C	A	rs367979710		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:38056224C>A	ENST00000328550.2	-	4	1205	c.1106G>T	c.(1105-1107)gGg>gTg	p.G369V	ZNF571_ENST00000593133.1_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000451802.2_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGGTCTTCCCGCATTCTTT	0.393																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1105-1107)gGg>gTg		zinc finger protein 571							52.0	46.0	48.0					19																	38056224		2203	4299	6502	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056224C>A	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1106G>T	19.37:g.38056224C>A	ENSP00000333660:p.Gly369Val					ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000589802.1_RNA	p.G369V			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1205	-			369					Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.1106G>T	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630345	0.28978	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.58358	0.34;0.34;0.34	3.6	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74928	0.3781	M	0.93720	3.45	0.39918	D	0.974113	D	0.89917	1.0	D	0.81914	0.995	T	0.77638	-0.2513	9	0.66056	D	0.02	.	8.7451	0.34580	0.0:0.7928:0.0:0.2072	.	369	Q7Z3V5	ZN571_HUMAN	V	369	ENSP00000333660:G369V;ENSP00000392638:G369V;ENSP00000351594:G369V	ENSP00000333660:G369V	G	-	2	0	ZNF571	42748064	0.200000	0.23398	0.028000	0.17463	0.197000	0.23852	0.810000	0.27183	0.692000	0.31613	0.313000	0.20887	GGG		0.393	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		15	30	1	0	2.31682e-05	1	2.37644e-05	15	30				
SPTBN4	57731	broad.mit.edu	37	19	41000844	41000844	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:41000844C>T	ENST00000352632.3	+	6	714	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R210W|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R210W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R210W|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R210W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	210	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCAGCTGGCGGGATGGCTT	0.582																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(628-630)Cgg>Tgg		spectrin, beta, non-erythrocytic 4							115.0	94.0	101.0					19																	41000844		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41000844C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.628C>T	19.37:g.41000844C>T	ENSP00000263373:p.Arg210Trp					SPTBN4_ENST00000595535.1_Missense_Mutation_p.R210W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R210W|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R210W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R210W	p.R210W			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	714	+			210			Actin-binding.|CH 2.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.628C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	c	16.44	3.123740	0.56613	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	D;D;D	0.95554	-3.74;-3.74;-3.74	4.16	-1.53	0.08611	Calponin homology domain (5);	1811.780000	0.00919	U	0.002577	D	0.98554	0.9517	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;0.998	P;D	0.64776	0.892;0.929	D	0.91127	0.4934	10	0.87932	D	0	.	13.92	0.63926	0.6835:0.3165:0.0:0.0	.	210;210	Q9H254;Q71S06	SPTN4_HUMAN;.	W	210	ENSP00000263373:R210W;ENSP00000340345:R210W;ENSP00000340741:R210W	ENSP00000340345:R210W	R	+	1	2	SPTBN4	45692684	1.000000	0.71417	0.991000	0.47740	0.560000	0.35617	2.245000	0.43133	-0.317000	0.08677	-0.343000	0.07986	CGG		0.582	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			20	36	0	0	0	1	0	20	36				
KIAA0895L	653319	broad.mit.edu	37	16	67212216	67212216	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67212216G>A	ENST00000290881.7	-	6	1965	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R347C|KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R347C			Q68EN5	K895L_HUMAN	KIAA0895-like	347										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						AAGGACATGCGCGCGGCGCGG	0.682																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(1039-1041)Cgc>Tgc		KIAA0895-like							11.0	13.0	12.0					16																	67212216		2088	4210	6298	SO:0001583	missense	653319							g.chr16:67212216G>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.1039C>T	16.37:g.67212216G>A	ENSP00000290881:p.Arg347Cys					KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000561679.1_Missense_Mutation_p.R192C|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R347C|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R347C	p.R347C			Q68EN5	K895L_HUMAN			6	1965	-			347					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.1039C>T	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058153	0.36277	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.73	1.6	0.23607	.	0.644929	0.17102	N	0.186949	T	0.22044	0.0531	L	0.34521	1.04	0.09310	N	1	D;B;B	0.54964	0.969;0.008;0.015	P;B;B	0.46975	0.533;0.009;0.003	T	0.11891	-1.0569	9	0.52906	T	0.07	-2.3956	1.7714	0.03012	0.1822:0.1615:0.4901:0.1662	.	347;347;192	Q68EN5-2;Q68EN5;Q68EN5-3	.;K895L_HUMAN;.	C	347	.	ENSP00000290881:R347C	R	-	1	0	KIAA0895L	65769717	0.010000	0.17322	0.002000	0.10522	0.842000	0.47809	1.791000	0.38744	0.281000	0.22233	-0.237000	0.12165	CGC		0.682	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		13	8	0	0	0	1	0	13	8				
ANO4	121601	broad.mit.edu	37	12	101437381	101437381	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:101437381A>G	ENST00000392977.3	+	13	1429	c.1219A>G	c.(1219-1221)Atg>Gtg	p.M407V	ANO4_ENST00000392979.3_Missense_Mutation_p.M372V|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	407					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGTCCATTCATGAGGCTGTC	0.393										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1114-1116)Atg>Gtg		anoctamin 4							170.0	155.0	160.0					12																	101437381		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101437381A>G	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1219A>G	12.37:g.101437381A>G	ENSP00000376703:p.Met407Val	HNSCC(74;0.22)				ANO4_ENST00000392977.3_Missense_Mutation_p.M407V|ANO4_ENST00000299222.9_5'UTR	p.M372V	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			12	1475	+			407					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1114A>G		.	.	.	.	.	.	.	.	.	.	A	14.05	2.419224	0.42918	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.67865	-0.29;-0.29	5.33	5.33	0.75918	.	0.052219	0.85682	D	0.000000	T	0.59224	0.2178	L	0.29908	0.895	0.80722	D	1	B;B	0.22800	0.075;0.034	B;B	0.29524	0.103;0.048	T	0.59273	-0.7485	10	0.62326	D	0.03	.	15.5909	0.76526	1.0:0.0:0.0:0.0	.	407;372	Q32M45;Q32M45-2	ANO4_HUMAN;.	V	372;407	ENSP00000376705:M372V;ENSP00000376703:M407V	ENSP00000376703:M407V	M	+	1	0	ANO4	99961512	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.606000	0.46291	2.142000	0.66516	0.533000	0.62120	ATG		0.393	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		22	43	0	0	0	1	0	22	43				
ARX	170302	broad.mit.edu	37	X	25031207	25031207	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:25031207G>T	ENST00000379044.4	-	2	1115	c.905C>A	c.(904-906)gCt>gAt	p.A302D		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	302					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						CTTGCCCTCAGCGTCTTCCGG	0.697																																						ENST00000379044.4																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(904-906)gCt>gAt		aristaless related homeobox							25.0	19.0	21.0					X																	25031207		2201	4299	6500	SO:0001583	missense	170302					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:25031207G>T	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.905C>A	X.37:g.25031207G>T	ENSP00000368332:p.Ala302Asp						p.A302D	NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN			2	1115	-			302						Missense_Mutation	SNP	ENST00000379044.4	37	c.905C>A	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	g	8.194	0.796739	0.16327	.	.	ENSG00000004848	ENST00000379044	D	0.90788	-2.73	3.83	2.91	0.33838	.	0.286850	0.31335	N	0.007837	T	0.79930	0.4531	N	0.14661	0.345	0.42547	D	0.993092	B	0.18610	0.029	B	0.12837	0.008	T	0.74674	-0.3586	10	0.38643	T	0.18	.	8.3394	0.32235	0.0:0.2826:0.5671:0.1503	.	302	Q96QS3	ARX_HUMAN	D	302	ENSP00000368332:A302D	ENSP00000368332:A302D	A	-	2	0	ARX	24941128	0.989000	0.36119	0.981000	0.43875	0.575000	0.36095	2.324000	0.43831	1.518000	0.48934	0.141000	0.15989	GCT		0.697	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1			5	7	1	0	0.0215528	1	0.0217012	5	7				
LAMA5	3911	broad.mit.edu	37	20	60927343	60927343	+	Silent	SNP	G	G	A	rs531074826		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:60927343G>A	ENST00000252999.3	-	4	708	c.642C>T	c.(640-642)atC>atT	p.I214I	RP11-157P1.5_ENST00000487421.1_RNA|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000477848.1_RNA|LAMA5_ENST00000370692.3_Silent_p.I214I|LAMA5_ENST00000370677.3_Silent_p.I214I|RP11-157P1.5_ENST00000478167.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	214	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGTGGTGCAGATGGCCGCGT	0.697													g|||	1	0.000199681	0.0	0.0	5008	,	,		12451	0.0		0.0	False		,,,				2504	0.001					ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(640-642)atC>atT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						71.0	63.0	66.0					20																	60927343		2200	4295	6495	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60927343G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.642C>T	20.37:g.60927343G>A						LAMA5_ENST00000370692.3_Silent_p.I214I|LAMA5_ENST00000370677.3_Silent_p.I214I	p.I214I	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		4	708	-	Breast(26;1.57e-08)		214			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.642C>T	CCDS33502.1																																																																																				0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		19	54	0	0	0	1	0	19	54				
TRPM2	7226	broad.mit.edu	37	21	45810891	45810891	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:45810891G>A	ENST00000397928.1	+	10	1868	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	TRPM2_ENST00000300481.9_Missense_Mutation_p.D475N|TRPM2_ENST00000300482.5_Missense_Mutation_p.D475N|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.D475N	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	475					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GATCTTCATGGATGAGTGGCA	0.582																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1423-1425)Gat>Aat		transient receptor potential cation channel, subfamily M, member 2							137.0	128.0	131.0					21																	45810891		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45810891G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1423G>A	21.37:g.45810891G>A	ENSP00000381023:p.Asp475Asn					TRPM2_ENST00000300481.9_Missense_Mutation_p.D475N|TRPM2_ENST00000397932.2_Missense_Mutation_p.D475N|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.D475N	p.D475N	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			10	1868	+			475					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1423G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362671	0.24684	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	4.6	4.6	0.57074	.	0.056585	0.64402	D	0.000001	T	0.26774	0.0655	L	0.36672	1.1	0.58432	D	0.999998	B;B	0.29766	0.256;0.256	B;B	0.25614	0.062;0.051	T	0.08351	-1.0726	10	0.06236	T	0.91	-25.0171	17.8022	0.88591	0.0:0.0:1.0:0.0	.	475;475	E9PGK7;O94759	.;TRPM2_HUMAN	N	475	ENSP00000300482:D475N;ENSP00000381023:D475N;ENSP00000300481:D475N;ENSP00000381026:D475N	ENSP00000300481:D475N	D	+	1	0	TRPM2	44635319	1.000000	0.71417	0.620000	0.29132	0.926000	0.56050	5.546000	0.67243	2.282000	0.76494	0.655000	0.94253	GAT		0.582	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		58	57	0	0	0	1	0	58	57				
HTRA4	203100	broad.mit.edu	37	8	38835513	38835513	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:38835513T>C	ENST00000302495.4	+	4	913	c.813T>C	c.(811-813)ctT>ctC	p.L271L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	271	Serine protease.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CATCTGACCTTCGGGCTGGAG	0.517																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(811-813)ctT>ctC		HtrA serine peptidase 4							136.0	113.0	121.0					8																	38835513		2203	4300	6503	SO:0001819	synonymous_variant	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38835513T>C	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.813T>C	8.37:g.38835513T>C							p.L271L	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		4	913	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	271			Serine protease.		Q542Z4|Q6PF13	Silent	SNP	ENST00000302495.4	37	c.813T>C	CCDS6110.1																																																																																				0.517	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		52	168	0	0	0	1	0	52	168				
ADH4	127	broad.mit.edu	37	4	100045604	100045604	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:100045604G>T	ENST00000265512.7	-	9	1206	c.1132C>A	c.(1132-1134)Ctc>Atc	p.L378I	ADH4_ENST00000505590.1_Missense_Mutation_p.L397I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Missense_Mutation_p.L397I|ADH4_ENST00000508393.1_Missense_Mutation_p.L397I	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	378					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		CAAAAGATGAGGATTGTTCGG	0.323																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(1189-1191)Ctc>Atc		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						35.0	35.0	35.0					4																	100045604		2200	4298	6498	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100045604G>T	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1132C>A	4.37:g.100045604G>T	ENSP00000265512:p.Leu378Ile					RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Missense_Mutation_p.L378I|ADH4_ENST00000505590.1_Missense_Mutation_p.L397I|ADH4_ENST00000423445.1_Missense_Mutation_p.L397I	p.L397I			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	10	1354	-			378					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.1189C>A	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	G	7.430	0.638518	0.14386	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590	T;T;T;T	0.03330	3.97;3.97;3.97;3.97	3.16	2.32	0.28847	GroES-like (1);	0.695556	0.11659	U	0.541994	T	0.02727	0.0082	N	0.16201	0.385	0.40545	D	0.981065	B;B	0.26845	0.048;0.161	B;B	0.38880	0.09;0.284	T	0.36986	-0.9725	10	0.02654	T	1	-2.623	6.3115	0.21166	0.1363:0.0:0.8637:0.0	.	397;378	P08319-2;P08319	.;ADH4_HUMAN	I	397;378;397;397	ENSP00000424630:L397I;ENSP00000265512:L378I;ENSP00000397939:L397I;ENSP00000425416:L397I	ENSP00000265512:L378I	L	-	1	0	ADH4	100264627	0.998000	0.40836	0.359000	0.25824	0.167000	0.22549	1.880000	0.39628	0.910000	0.36722	0.655000	0.94253	CTC		0.323	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		3	8	1	0	0.00909568	1	0.00916886	3	8				
NOTCH3	4854	broad.mit.edu	37	19	15295220	15295220	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:15295220C>T	ENST00000263388.2	-	16	2527	c.2452G>A	c.(2452-2454)Gca>Aca	p.A818T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	818	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A818S(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACAGGGTGCGGGGCCAGCA	0.612																																						ENST00000263388.2																			2	Substitution - Missense(2)	p.A818S(2)	lung(2)	breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(2452-2454)Gca>Aca		notch 3							74.0	62.0	66.0					19																	15295220		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15295220C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2452G>A	19.37:g.15295220C>T	ENSP00000263388:p.Ala818Thr						p.A818T	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		16	2527	-			818			EGF-like 21; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.2452G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	9.654	1.142237	0.21205	.	.	ENSG00000074181	ENST00000263388	T	0.66815	-0.23	4.66	-2.39	0.06602	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.350163	0.16457	N	0.213574	T	0.42471	0.1204	N	0.16790	0.44	0.09310	N	1	B	0.20550	0.046	B	0.22880	0.042	T	0.21211	-1.0252	10	0.40728	T	0.16	.	5.6489	0.17604	0.2715:0.4284:0.0:0.3001	.	818	Q9UM47	NOTC3_HUMAN	T	818	ENSP00000263388:A818T	ENSP00000263388:A818T	A	-	1	0	NOTCH3	15156220	0.876000	0.30132	0.381000	0.26106	0.269000	0.26545	0.971000	0.29396	-0.304000	0.08843	-1.433000	0.01084	GCA		0.612	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		23	50	0	0	0	1	0	23	50				
ANK3	288	broad.mit.edu	37	10	61832912	61832912	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:61832912C>A	ENST00000280772.2	-	37	7918	c.7727G>T	c.(7726-7728)aGg>aTg	p.R2576M	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2576					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTGTCCACCCTATCTTCATA	0.423																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(7726-7728)aGg>aTg		ankyrin 3, node of Ranvier (ankyrin G)							127.0	117.0	120.0					10																	61832912		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832912C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7727G>T	10.37:g.61832912C>A	ENSP00000280772:p.Arg2576Met					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.R2576M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	7918	-			2576					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.7727G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430746	0.62844	.	.	ENSG00000151150	ENST00000280772	T	0.74526	-0.85	5.47	5.47	0.80525	.	0.000000	0.47093	D	0.000245	D	0.84946	0.5585	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85817	0.1383	10	0.72032	D	0.01	.	19.3349	0.94312	0.0:1.0:0.0:0.0	.	2576	Q12955	ANK3_HUMAN	M	2576	ENSP00000280772:R2576M	ENSP00000280772:R2576M	R	-	2	0	ANK3	61502918	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.810000	0.86072	2.564000	0.86499	0.462000	0.41574	AGG		0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		37	104	1	0	6.53348e-20	1	7.20737e-20	37	104				
LRRC1	55227	broad.mit.edu	37	6	53787465	53787465	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:53787465A>G	ENST00000370888.1	+	14	1726	c.1449A>G	c.(1447-1449)ccA>ccG	p.P483P	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	483						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTCCACACCCAGGGGAGTTAA	0.413																																						ENST00000370888.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1447-1449)ccA>ccG		leucine rich repeat containing 1							155.0	154.0	154.0					6																	53787465		1896	4120	6016	SO:0001819	synonymous_variant	55227					cytoplasm|membrane		g.chr6:53787465A>G	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1449A>G	6.37:g.53787465A>G							p.P483P	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	14	1726	+	Lung NSC(77;0.0147)		483					Q5TGN3|Q9HAC0|Q9NVF1	Silent	SNP	ENST00000370888.1	37	c.1449A>G	CCDS4953.2																																																																																				0.413	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		76	217	0	0	0	1	0	76	217				
UGT2B28	54490	broad.mit.edu	37	4	70156526	70156526	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:70156526C>A	ENST00000335568.5	+	5	1309	c.1307C>A	c.(1306-1308)cCt>cAt	p.P436H	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	436					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						ATTAATGATCCTTCGTGAGTA	0.398																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1306-1308)cCt>cAt		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						111.0	120.0	117.0					4																	70156526		2047	4238	6285	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156526C>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1307C>A	4.37:g.70156526C>A	ENSP00000334276:p.Pro436His					UGT2B28_ENST00000511240.1_Intron	p.P436H	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			5	1309	+			436					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1307C>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	12.86	2.065275	0.36470	.	.	ENSG00000135226	ENST00000335568	T	0.64618	-0.11	1.85	1.85	0.25348	.	0.262657	0.29342	U	0.012432	T	0.82102	0.4964	H	0.96208	3.785	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	D	0.84488	0.0609	10	0.87932	D	0	.	9.3109	0.37903	0.0:1.0:0.0:0.0	.	436	Q9BY64	UDB28_HUMAN	H	436	ENSP00000334276:P436H	ENSP00000334276:P436H	P	+	2	0	UGT2B28	70191115	0.048000	0.20356	0.744000	0.31058	0.130000	0.20726	3.444000	0.52914	1.023000	0.39654	0.184000	0.17185	CCT		0.398	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		48	68	1	0	4.86159e-25	1	5.41756e-25	48	68				
CANT1	124583	broad.mit.edu	37	17	76989847	76989847	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:76989847C>T	ENST00000302345.2	-	4	1485	c.991G>A	c.(991-993)Gct>Act	p.A331T	CANT1_ENST00000392446.5_Missense_Mutation_p.A331T|CANT1_ENST00000591773.1_Missense_Mutation_p.A331T	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	331					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TGGCTCACAGCGATGTCGCCG	0.657			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(991-993)Gct>Act		calcium activated nucleotidase 1							66.0	54.0	58.0					17																	76989847		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76989847C>T	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.991G>A	17.37:g.76989847C>T	ENSP00000307674:p.Ala331Thr					CANT1_ENST00000591773.1_Missense_Mutation_p.A331T|CANT1_ENST00000392446.5_Missense_Mutation_p.A331T	p.A331T	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		4	1485	-			331					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.991G>A	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	C	4.669	0.124308	0.08931	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000339300	D;D	0.84800	-1.9;-1.9	5.26	-6.59	0.01830	.	1.103620	0.06787	N	0.786307	T	0.60301	0.2258	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51116	-0.8746	10	0.27082	T	0.32	-6.2785	8.505	0.33181	0.1433:0.3679:0.0:0.4888	.	331	Q8WVQ1	CANT1_HUMAN	T	331;331;280	ENSP00000307674:A331T;ENSP00000376241:A331T	ENSP00000307674:A331T	A	-	1	0	CANT1	74501442	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.783000	0.04638	-1.199000	0.02666	-1.130000	0.01982	GCT		0.657	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		28	39	0	0	0	1	0	28	39				
KLF16	83855	broad.mit.edu	37	19	1854672	1854672	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:1854672G>A	ENST00000250916.4	-	2	615	c.545C>T	c.(544-546)aCg>aTg	p.T182M	CTB-31O20.6_ENST00000592884.1_RNA|KLF16_ENST00000592313.1_5'UTR	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	182					dopamine receptor signaling pathway (GO:0007212)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCGCCCGTGTGCGTCCG	0.687																																						ENST00000250916.4																			0				lung(1)	1						c.(544-546)aCg>aTg		Kruppel-like factor 16							39.0	44.0	43.0					19																	1854672		2203	4299	6502	SO:0001583	missense	83855					nucleus	DNA binding|zinc ion binding	g.chr19:1854672G>A	AF327440	CCDS12075.1	19p13.3	2013-10-15			ENSG00000129911	ENSG00000129911		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16857	protein-coding gene	gene with protein product		606139				11438660	Standard	NM_031918		Approved	NSLP2, BTEB4, DRRF	uc002luc.3	Q9BXK1	OTTHUMG00000179994	ENST00000250916.4:c.545C>T	19.37:g.1854672G>A	ENSP00000250916:p.Thr182Met					KLF16_ENST00000592313.1_5'UTR	p.T182M	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	615	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	182						Missense_Mutation	SNP	ENST00000250916.4	37	c.545C>T	CCDS12075.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409466	0.83340	.	.	ENSG00000129911	ENST00000250916;ENST00000541015	T;T	0.26373	1.74;1.74	3.31	3.31	0.37934	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46983	0.1421	M	0.66560	2.04	0.45035	D	0.998058	D	0.89917	1.0	D	0.87578	0.998	T	0.50890	-0.8774	9	0.87932	D	0	.	12.1875	0.54247	0.0:0.0:1.0:0.0	.	182	Q9BXK1	KLF16_HUMAN	M	182	ENSP00000250916:T182M;ENSP00000439973:T182M	ENSP00000250916:T182M	T	-	2	0	KLF16	1805672	1.000000	0.71417	0.877000	0.34402	0.748000	0.42578	7.598000	0.82745	1.698000	0.51180	0.472000	0.43445	ACG		0.687	KLF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449214.1			34	44	0	0	0	1	0	34	44				
TNFRSF6B	8771	broad.mit.edu	37	20	62328274	62328274	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62328274T>A	ENST00000369996.1	+	1	254	c.154T>A	c.(154-156)Tgc>Agc	p.C52S	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V1354E|RTEL1_ENST00000318100.4_Missense_Mutation_p.V1354E|ARFRP1_ENST00000485858.1_5'Flank	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	52					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GTGCGCCCAGTGCCCCCCAGG	0.701																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(4060-4062)gTg>gAg		regulator of telomere elongation helicase 1							15.0	19.0	17.0					20																	62328274		2172	4274	6446	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62328274T>A	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.154T>A	20.37:g.62328274T>A	ENSP00000359013:p.Cys52Ser					TNFRSF6B_ENST00000369996.1_Missense_Mutation_p.C52S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V1354E	p.V1354E			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		36	4888	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		0						Missense_Mutation	SNP	ENST00000369996.1	37	c.4061T>A	CCDS13532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.9|21.9	4.213315|4.213315	0.79352|0.79352	.|.	.|.	ENSG00000243509|ENSG00000258366	ENST00000370006;ENST00000369996;ENST00000342852|ENST00000318100	D|D	0.99422|0.83250	-5.88|-1.7	4.06|4.06	2.89|2.89	0.33648|0.33648	TNFR/CD27/30/40/95 cysteine-rich region (1);|.	.|0.662303	.|0.11457	.|U	.|0.562105	D|D	0.88407|0.88407	0.6428|0.6428	M|M	0.81614|0.81614	2.55|2.55	0.36968|0.36968	D|D	0.893676|0.893676	D|.	0.89917|.	1.0|.	D|.	0.64410|.	0.925|.	D|D	0.86904|0.86904	0.2056|0.2056	9|8	0.87932|0.87932	D|D	0|0	-22.213|-22.213	10.1606|10.1606	0.42849|0.42849	0.0:0.0:0.1684:0.8316|0.0:0.0:0.1684:0.8316	.|.	52|.	O95407|.	TNF6B_HUMAN|.	S|E	52|1354	ENSP00000359013:C52S|ENSP00000322287:V1354E	ENSP00000342328:C52S|ENSP00000322287:V1354E	C|V	+|+	1|2	0|0	TNFRSF6B|AL353715.1	61798718|61798718	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.498000|0.498000	0.33706|0.33706	2.181000|2.181000	0.42547|0.42547	0.402000|0.402000	0.25451|0.25451	0.379000|0.379000	0.24179|0.24179	TGC|GTG		0.701	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			32	22	0	0	0	1	0	32	22				
JAKMIP3	282973	broad.mit.edu	37	10	133958682	133958682	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:133958682G>A	ENST00000298622.4	+	11	1812	c.1674G>A	c.(1672-1674)gcG>gcA	p.A558A	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	558						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGCCCTGGCGGAGCAGGGGC	0.607																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(1672-1674)gcG>gcA		Janus kinase and microtubule interacting protein 3							22.0	21.0	21.0					10																	133958682		2200	4295	6495	SO:0001819	synonymous_variant	282973							g.chr10:133958682G>A	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1674G>A	10.37:g.133958682G>A						JAKMIP3_ENST00000477275.1_3'UTR	p.A558A	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	11	1812	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.1674G>A	CCDS44494.1																																																																																				0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		11	29	0	0	0	1	0	11	29				
GFOD2	81577	broad.mit.edu	37	16	67709560	67709560	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67709560C>T	ENST00000268797.7	-	3	1001	c.656G>A	c.(655-657)aGc>aAc	p.S219N	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	219					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GAAGTCATCGCTAGTGACGTG	0.577																																						ENST00000268797.7																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(655-657)aGc>aAc		glucose-fructose oxidoreductase domain containing 2							80.0	69.0	73.0					16																	67709560		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709560C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.656G>A	16.37:g.67709560C>T	ENSP00000268797:p.Ser219Asn					GFOD2_ENST00000602377.1_5'UTR	p.S219N	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	1001	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	219					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.656G>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615240	0.87359	.	.	ENSG00000141098	ENST00000268797	T	0.42513	0.97	5.28	5.28	0.74379	.	0.124708	0.64402	D	0.000001	T	0.63792	0.2541	M	0.80422	2.495	0.45025	D	0.998045	P	0.51653	0.947	P	0.58820	0.846	T	0.62001	-0.6946	10	0.32370	T	0.25	-25.723	18.8749	0.92331	0.0:1.0:0.0:0.0	.	219	Q3B7J2	GFOD2_HUMAN	N	219	ENSP00000268797:S219N	ENSP00000268797:S219N	S	-	2	0	GFOD2	66267061	1.000000	0.71417	0.992000	0.48379	0.947000	0.59692	5.941000	0.70195	2.625000	0.88918	0.557000	0.71058	AGC		0.577	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		31	29	0	0	0	1	0	31	29				
FRMPD4	9758	broad.mit.edu	37	X	12693029	12693029	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:12693029T>C	ENST00000380682.1	+	5	974		c.e5+2			NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4						positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTTACCCTGTAAGTGTTCTG	0.393																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.e5+2		FERM and PDZ domain containing 4							188.0	164.0	172.0					X																	12693029		2203	4300	6503	SO:0001630	splice_region_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12693029T>C	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.468+2T>C	X.37:g.12693029T>C								NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			5	974	+								A8K0X9|O15032	Splice_Site	SNP	ENST00000380682.1	37		CCDS35201.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998927	0.74818	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.778	0.57459	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRMPD4	12602950	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.814000	0.75236	1.767000	0.52121	0.486000	0.48141	.		0.393	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	Intron	5	114	0	0	0	1	0	5	114				
DUSP27	92235	broad.mit.edu	37	1	167095958	167095958	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:167095958C>A	ENST00000361200.2	+	6	1756	c.1590C>A	c.(1588-1590)ttC>ttA	p.F530L	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.F530L|DUSP27_ENST00000271385.5_Missense_Mutation_p.F530L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	530					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCAGTTCCTTCTACAACTTCT	0.542																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1588-1590)ttC>ttA		dual specificity phosphatase 27 (putative)							86.0	82.0	84.0					1																	167095958		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095958C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1590C>A	1.37:g.167095958C>A	ENSP00000354483:p.Phe530Leu					DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.F530L|DUSP27_ENST00000271385.5_Missense_Mutation_p.F530L	p.F530L			Q5VZP5	DUS27_HUMAN			6	1756	+			530					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.1590C>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574091	0.28092	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.02974	4.09;4.09;4.09	5.09	3.22	0.36961	.	0.172776	0.39146	N	0.001456	T	0.01061	0.0035	L	0.53249	1.67	0.36053	D	0.840927	B	0.29188	0.236	B	0.20767	0.031	T	0.51284	-0.8725	10	0.36615	T	0.2	-23.8781	5.0208	0.14360	0.1458:0.6299:0.0:0.2243	.	530	Q5VZP5	DUS27_HUMAN	L	530	ENSP00000354483:F530L;ENSP00000271385:F530L;ENSP00000404874:F530L	ENSP00000271385:F530L	F	+	3	2	DUSP27	165362582	1.000000	0.71417	0.915000	0.36163	0.923000	0.55619	1.163000	0.31798	0.538000	0.28769	0.643000	0.83706	TTC		0.542	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		47	60	1	0	2.24722e-20	1	2.48213e-20	47	60				
FGFR2	2263	broad.mit.edu	37	10	123279677	123279677	+	Missense_Mutation	SNP	G	G	C	rs79184941|rs121918498|rs281865420		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:123279677G>C	ENST00000358487.5	-	7	1027	c.755C>G	c.(754-756)tCg>tGg	p.S252W	FGFR2_ENST00000357555.5_Missense_Mutation_p.S163W|FGFR2_ENST00000457416.2_Missense_Mutation_p.S252W|FGFR2_ENST00000360144.3_Missense_Mutation_p.S163W|FGFR2_ENST00000346997.2_Missense_Mutation_p.S252W|FGFR2_ENST00000369059.1_Missense_Mutation_p.S137W|FGFR2_ENST00000351936.6_Missense_Mutation_p.S252W|FGFR2_ENST00000478859.1_Missense_Mutation_p.S24W|FGFR2_ENST00000356226.4_Missense_Mutation_p.S137W|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369060.4_Missense_Mutation_p.S252W|FGFR2_ENST00000369056.1_Missense_Mutation_p.S252W	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	252			S -> F (in APRS; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:9002682}.|S -> L (in CS). {ECO:0000269|PubMed:9002682}.|S -> W (in APRS and PS; common mutation). {ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:7668257, ECO:0000269|PubMed:7719344, ECO:0000269|PubMed:9452027, ECO:0000269|PubMed:9677057, ECO:0000269|PubMed:9719378}.|SP -> FS (in PS).		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.S252W(68)|p.S163W(13)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CCGGTGAGGCGATCGCTCTGG	0.557	S252W(MFE280_ENDOMETRIUM)	5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5	S252W(MFE280_ENDOMETRIUM)	5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		81	Substitution - Missense(81)	p.S252W(68)|p.S163W(13)	endometrium(81)	breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181	GRCh37	CM950458|CM970526	FGFR2	M	rs79184941	c.(754-756)tCg>tGg		fibroblast growth factor receptor 2	Palifermin(DB00039)						54.0	44.0	47.0					10																	123279677		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123279677G>C	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.755C>G	10.37:g.123279677G>C	ENSP00000351276:p.Ser252Trp					FGFR2_ENST00000369056.1_Missense_Mutation_p.S252W|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369059.1_Missense_Mutation_p.S137W|FGFR2_ENST00000478859.1_Missense_Mutation_p.S24W|FGFR2_ENST00000457416.2_Missense_Mutation_p.S252W|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000356226.4_Missense_Mutation_p.S137W|FGFR2_ENST00000360144.3_Missense_Mutation_p.S163W|FGFR2_ENST00000351936.6_Missense_Mutation_p.S252W|FGFR2_ENST00000346997.2_Missense_Mutation_p.S252W|FGFR2_ENST00000357555.5_Missense_Mutation_p.S163W|FGFR2_ENST00000369060.4_Missense_Mutation_p.S252W	p.S252W	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	7	1027	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	252		S -> F (in APRS; requires 2 nucleotide substitutions).|S -> L (in CS).|S -> W (in APRS and PS; common mutation).|SP -> FS (in PS).			B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.755C>G	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419975	0.83559	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	T;T;T;T;T;T;T;T;T;T;T;T	0.80909	-1.34;-1.36;-1.33;-1.43;-1.31;-1.36;-1.36;-1.36;-1.34;-1.35;-1.35;-1.33	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.92341	0.7570	M	0.91300	3.195	0.80722	A	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.989;0.994;1.0;1.0;1.0;0.998;1.0	D;D;D;P;D;D;D;D;D;D	0.87578	0.967;0.992;0.998;0.786;0.933;0.994;0.997;0.998;0.931;0.995	D	0.92850	0.6296	9	0.59425	D	0.04	.	20.0368	0.97565	0.0:0.0:1.0:0.0	.	271;137;252;271;252;163;137;271;163;252	D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;.;.	W	163;252;252;137;252;137;252;252;252;163;252;252;163	ENSP00000350166:S163W;ENSP00000351276:S252W;ENSP00000348559:S137W;ENSP00000358056:S252W;ENSP00000358055:S137W;ENSP00000263451:S252W;ENSP00000410294:S252W;ENSP00000309878:S252W;ENSP00000353262:S163W;ENSP00000358052:S252W;ENSP00000358054:S252W;ENSP00000337665:S163W	ENSP00000337665:S163W	S	-	2	0	FGFR2	123269667	1.000000	0.71417	0.457000	0.27056	0.735000	0.41995	9.860000	0.99555	2.735000	0.93741	0.563000	0.77884	TCG		0.557	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		12	27	0	0	0	1	0	12	27				
KIAA1549	57670	broad.mit.edu	37	7	138522791	138522791	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:138522791C>T	ENST00000422774.1	-	20	5761	c.5713G>A	c.(5713-5715)Ggc>Agc	p.G1905S	TMEM213_ENST00000413208.1_3'UTR|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G1889S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1839S			Q9HCM3	K1549_HUMAN	KIAA1549	1905						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGCCCAGGGCCCTGCAGTCCC	0.622			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(5665-5667)Ggc>Agc		KIAA1549							29.0	30.0	30.0					7																	138522791		1900	4102	6002	SO:0001583	missense	57670					integral to membrane		g.chr7:138522791C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5713G>A	7.37:g.138522791C>T	ENSP00000416040:p.Gly1905Ser					KIAA1549_ENST00000422774.1_Missense_Mutation_p.G1905S|TMEM213_ENST00000413208.1_3'UTR|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1839S	p.G1889S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			20	5713	-			1905					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5665G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260224	0.80246	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.24151	1.87;1.88;1.88	5.4	5.4	0.78164	.	0.453724	0.20574	N	0.089680	T	0.30541	0.0768	N	0.14661	0.345	0.36930	D	0.891858	D;D;D;D	0.65815	0.991;0.99;0.995;0.99	P;P;D;P	0.62955	0.813;0.864;0.909;0.864	T	0.16778	-1.0391	10	0.19147	T	0.46	.	16.3363	0.83062	0.0:1.0:0.0:0.0	.	1905;689;1889;673	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	S	1889;1839;1905	ENSP00000406661:G1889S;ENSP00000242365:G1839S;ENSP00000416040:G1905S	ENSP00000242365:G1839S	G	-	1	0	KIAA1549	138173331	0.989000	0.36119	0.990000	0.47175	0.975000	0.68041	1.641000	0.37197	2.529000	0.85273	0.655000	0.94253	GGC		0.622	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			13	11	0	0	0	1	0	13	11				
NUDT5	11164	broad.mit.edu	37	10	12214859	12214859	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:12214859C>T	ENST00000491614.1	-	7	787	c.392G>A	c.(391-393)tGt>tAt	p.C131Y	NUDT5_ENST00000378940.3_Missense_Mutation_p.C131Y|NUDT5_ENST00000537776.1_Missense_Mutation_p.C131Y|NUDT5_ENST00000378927.3_Missense_Mutation_p.C131Y|NUDT5_ENST00000378937.3_Missense_Mutation_p.C144Y|NUDT5_ENST00000378952.3_5'UTR			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	131	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				TGGGTCCATACAGACCGCTGT	0.507																																						ENST00000491614.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(391-393)tGt>tAt		nudix (nucleoside diphosphate linked moiety X)-type motif 5							195.0	137.0	157.0					10																	12214859		2203	4300	6503	SO:0001583	missense	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12214859C>T	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.392G>A	10.37:g.12214859C>T	ENSP00000419628:p.Cys131Tyr					NUDT5_ENST00000537776.1_Missense_Mutation_p.C131Y|NUDT5_ENST00000378940.3_Missense_Mutation_p.C131Y|NUDT5_ENST00000378927.3_Missense_Mutation_p.C131Y|NUDT5_ENST00000378937.3_Missense_Mutation_p.C144Y|NUDT5_ENST00000378952.3_5'UTR	p.C131Y			Q9UKK9	NUDT5_HUMAN			7	787	-		Renal(717;0.228)	131			Nudix hydrolase.		A8K516|Q6IAG0|Q9UH49	Missense_Mutation	SNP	ENST00000491614.1	37	c.392G>A	CCDS7089.1	.	.	.	.	.	.	.	.	.	.	C	7.050	0.564231	0.13498	.	.	ENSG00000165609	ENST00000491614;ENST00000378929;ENST00000378937;ENST00000537776;ENST00000378940;ENST00000378927	T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48	5.78	5.78	0.91487	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.041338	0.85682	D	0.000000	T	0.07369	0.0186	N	0.01686	-0.76	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.72075	0.976;0.947	T	0.52997	-0.8500	10	0.06891	T	0.86	-8.3485	18.2009	0.89838	0.0:1.0:0.0:0.0	.	131;131	A6NCQ0;Q9UKK9	.;NUDT5_HUMAN	Y	131;131;144;131;131;131	ENSP00000419628:C131Y;ENSP00000368219:C144Y;ENSP00000445116:C131Y;ENSP00000368222:C131Y;ENSP00000368209:C131Y	ENSP00000368209:C131Y	C	-	2	0	NUDT5	12254865	1.000000	0.71417	0.950000	0.38849	0.131000	0.20780	6.102000	0.71486	2.729000	0.93468	0.650000	0.86243	TGT		0.507	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			17	25	0	0	0	1	0	17	25				
MSX2	4488	broad.mit.edu	37	5	174151740	174151740	+	Silent	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:174151740G>C	ENST00000239243.6	+	1	205	c.78G>C	c.(76-78)ccG>ccC	p.P26P	MSX2_ENST00000507785.1_Silent_p.P26P	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	26					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GACCAGGCCCGGGGCCTGGGG	0.682																																						ENST00000239243.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(76-78)ccG>ccC		msh homeobox 2							4.0	6.0	5.0					5																	174151740		1998	4046	6044	SO:0001819	synonymous_variant	4488				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:174151740G>C	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.78G>C	5.37:g.174151740G>C						MSX2_ENST00000507785.1_Silent_p.P26P	p.P26P	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	205	+	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	26					D3DQN1|Q53XM4|Q9UD60	Silent	SNP	ENST00000239243.6	37	c.78G>C	CCDS4392.1																																																																																				0.682	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			5	20	0	0	0	1	0	5	20				
RBCK1	10616	broad.mit.edu	37	20	398171	398171	+	Splice_Site	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:398171C>G	ENST00000356286.5	+	3	874	c.169C>G	c.(169-171)Ctg>Gtg	p.L57V	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Splice_Site_p.L15V	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	57	Interaction with IRF3.|Interaction with TAB2.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TCTCTGCAGGCTGTGGGTGAG	0.592																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.e3-1		RanBP-type and C3HC4-type zinc finger containing 1							62.0	53.0	56.0					20																	398171		2203	4300	6503	SO:0001630	splice_region_variant	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:398171C>G	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.168-1C>G	20.37:g.398171C>G						RBCK1_ENST00000353660.3_Splice_Site_p.L15_splice|RBCK1_ENST00000382181.2_5'UTR	p.L57_splice	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			3	874	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	57			Interaction with IRF3.|Interaction with TAB2.|Ubiquitin-like.		O95623|Q86SL2|Q96BS3|Q9BYM9	Splice_Site	SNP	ENST00000356286.5	37	c.167_splice	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136193	0.56936	.	.	ENSG00000125826	ENST00000411647;ENST00000356286;ENST00000441733;ENST00000353660;ENST00000400244;ENST00000400243	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.12	4.15	0.48705	Ubiquitin supergroup (1);	0.000000	0.64402	D	0.000007	T	0.28400	0.0702	L	0.59436	1.845	0.80722	D	1	D;D;P	0.76494	0.957;0.999;0.911	P;D;B	0.65443	0.536;0.935;0.382	T	0.00503	-1.1701	10	0.72032	D	0.01	-11.8658	9.7734	0.40603	0.0:0.9039:0.0:0.0961	.	47;15;57	B4E0F5;Q9BYM8-3;Q9BYM8	.;.;HOIL1_HUMAN	V	57;57;56;15;57;98	ENSP00000415080:L57V;ENSP00000348632:L57V;ENSP00000387799:L56V;ENSP00000254960:L15V	ENSP00000254960:L15V	L	+	1	2	RBCK1	346171	0.998000	0.40836	1.000000	0.80357	0.719000	0.41307	0.419000	0.21247	2.653000	0.90120	0.557000	0.71058	CTG		0.592	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229	Missense_Mutation	17	58	0	0	0	1	0	17	58				
HELZ2	85441	broad.mit.edu	37	20	62201882	62201882	+	Missense_Mutation	SNP	C	C	T	rs138005803		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62201882C>T	ENST00000467148.1	-	3	614	c.545G>A	c.(544-546)aGc>aAc	p.S182N	HELZ2_ENST00000479540.1_5'UTR|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	182					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AAACGTCCAGCTGTACTGGGT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		15755	0.0		0.001	False		,,,				2504	0.0					ENST00000467148.1																			0											c.(544-546)aGc>aAc		helicase with zinc finger 2, transcriptional coactivator		C	ASN/SER	4,4400	8.1+/-20.4	0,4,2198	89.0	76.0	80.0		545	0.1	0.1	20	dbSNP_134	80	1,8597		0,1,4298	no	missense	PRIC285	NM_001037335.2	46	0,5,6496	TT,TC,CC		0.0116,0.0908,0.0385	benign	182/2650	62201882	5,12997	2202	4299	6501	SO:0001583	missense	85441							g.chr20:62201882C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.545G>A	20.37:g.62201882C>T	ENSP00000417401:p.Ser182Asn					HELZ2_ENST00000479540.1_5'UTR	p.S182N	NM_001037335.2	NP_001032412.2					3	614	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.545G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	0.682	-0.797856	0.02862	9.08E-4	1.16E-4	ENSG00000130589	ENST00000467148	T	0.02236	4.38	4.28	0.0516	0.14298	.	1.515840	0.03978	N	0.292737	T	0.03783	0.0107	L	0.56769	1.78	0.09310	N	1	B;B	0.24258	0.1;0.012	B;B	0.22152	0.038;0.004	T	0.45848	-0.9233	10	0.42905	T	0.14	-13.7404	7.4825	0.27413	0.0:0.493:0.0:0.507	.	182;182	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	N	182	ENSP00000417401:S182N	ENSP00000417401:S182N	S	-	2	0	RP4-697K14.7	61672326	0.000000	0.05858	0.113000	0.21522	0.072000	0.16883	-0.731000	0.04909	-0.003000	0.14444	-0.259000	0.10710	AGC		0.627	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		49	32	0	0	0	1	0	49	32				
GMEB2	26205	broad.mit.edu	37	20	62236098	62236098	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62236098A>G	ENST00000266068.1	-	2	705	c.227T>C	c.(226-228)tTa>tCa	p.L76S	GMEB2_ENST00000370069.1_Missense_Mutation_p.L25S|GMEB2_ENST00000370077.1_Missense_Mutation_p.L76S			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	76					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CTTCCTACCTAACACGGCTTC	0.572																																						ENST00000266068.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(226-228)tTa>tCa		glucocorticoid modulatory element binding protein 2							74.0	72.0	73.0					20																	62236098		2203	4300	6503	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62236098A>G	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.227T>C	20.37:g.62236098A>G	ENSP00000266068:p.Leu76Ser					GMEB2_ENST00000370077.1_Missense_Mutation_p.L76S|GMEB2_ENST00000370069.1_Missense_Mutation_p.L25S	p.L76S			Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		2	705	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		76					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.227T>C	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980967	0.53827	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.64803	-0.12;0.44;0.44	4.87	4.87	0.63330	.	0.090745	0.46758	D	0.000270	T	0.49695	0.1572	N	0.08118	0	0.37206	D	0.904604	D	0.63880	0.993	P	0.53649	0.731	T	0.51284	-0.8725	10	0.08599	T	0.76	-8.4045	14.1277	0.65233	1.0:0.0:0.0:0.0	.	76	Q9UKD1	GMEB2_HUMAN	S	25;76;76	ENSP00000359086:L25S;ENSP00000359094:L76S;ENSP00000266068:L76S	ENSP00000266068:L76S	L	-	2	0	GMEB2	61706542	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.709000	0.68384	1.822000	0.53115	0.379000	0.24179	TTA		0.572	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		23	128	0	0	0	1	0	23	128				
DRD5	1816	broad.mit.edu	37	4	9784646	9784646	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:9784646C>T	ENST00000304374.2	+	1	1389	c.993C>T	c.(991-993)gcC>gcT	p.A331A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	331					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCCCTCCGGCCGGCTTCCCCT	0.592																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(991-993)gcC>gcT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						91.0	92.0	91.0					4																	9784646		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784646C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.993C>T	4.37:g.9784646C>T							p.A331A	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	1389	+			331					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.993C>T	CCDS3405.1																																																																																				0.592	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			84	84	0	0	0	1	0	84	84				
FAM160A2	84067	broad.mit.edu	37	11	6238902	6238902	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:6238902C>T	ENST00000449352.2	-	9	2177	c.1914G>A	c.(1912-1914)gtG>gtA	p.V638V	FAM160A2_ENST00000524416.1_Silent_p.V638V|FAM160A2_ENST00000265978.4_Silent_p.V652V|FAM160A2_ENST00000529360.1_5'Flank			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	638					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGATCCTGGCACTCCATTGA	0.672																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1954-1956)gtG>gtA		family with sequence similarity 160, member A2							34.0	36.0	35.0					11																	6238902		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6238902C>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1914G>A	11.37:g.6238902C>T						FAM160A2_ENST00000524416.1_Silent_p.V638V|FAM160A2_ENST00000449352.2_Silent_p.V638V	p.V652V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			9	2314	-			638					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.1956G>A	CCDS44530.1																																																																																				0.672	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		18	33	0	0	0	1	0	18	33				
ATF4P4	100127952	broad.mit.edu	37	11	113660947	113660947	+	RNA	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:113660947C>T	ENST00000393544.2	+	0	995									activating transcription factor 4 pseudogene 4																		TAAGCCATGGCGCTTCTCAGG	0.592																																						ENST00000393544.2																			0																																																			0							g.chr11:113660947C>T			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113660947C>T														0	995	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.592	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		5	11	0	0	0	1	0	5	11				
VCAN	1462	broad.mit.edu	37	5	82837257	82837257	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:82837257T>C	ENST00000265077.3	+	8	9000	c.8435T>C	c.(8434-8436)tTa>tCa	p.L2812S	VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.L1825S|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2812	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GATACAACATTAGCAGTTTCA	0.458																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(8434-8436)tTa>tCa		versican							144.0	136.0	139.0					5																	82837257		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837257T>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8435T>C	5.37:g.82837257T>C	ENSP00000265077:p.Leu2812Ser					VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.L1825S	p.L2812S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	9000	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2812			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8435T>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	9.383	1.073442	0.20147	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.83163	-1.65;-1.69	5.55	-0.995	0.10222	.	1.924520	0.02145	N	0.057492	T	0.46946	0.1419	N	0.00119	-2.075	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.61486	-0.7053	10	0.02654	T	1	.	9.1238	0.36803	0.0:0.4629:0.0:0.5371	.	1825;2812	P13611-2;P13611	.;CSPG2_HUMAN	S	2812;1825	ENSP00000265077:L2812S;ENSP00000340062:L1825S	ENSP00000265077:L2812S	L	+	2	0	VCAN	82873013	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.208000	0.09371	-0.129000	0.11620	-0.959000	0.02639	TTA		0.458	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		88	77	0	0	0	1	0	88	77				
BUB1B	701	broad.mit.edu	37	15	40502378	40502378	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:40502378G>A	ENST00000287598.6	+	18	2547	c.2352G>A	c.(2350-2352)gcG>gcA	p.A784A	BUB1B_ENST00000412359.3_Silent_p.A798A	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	784	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCTGGGTGGCGCCAAGAAACT	0.338			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(2350-2352)gcG>gcA		BUB1 mitotic checkpoint serine/threonine kinase B							114.0	110.0	111.0					15																	40502378		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40502378G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2352G>A	15.37:g.40502378G>A						BUB1B_ENST00000412359.3_Silent_p.A798A	p.A784A	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	18	2547	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	784			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.2352G>A	CCDS10053.1																																																																																				0.338	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			36	37	0	0	0	1	0	36	37				
NLRX1	79671	broad.mit.edu	37	11	119044561	119044561	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:119044561C>T	ENST00000409109.1	+	5	1190	c.603C>T	c.(601-603)gaC>gaT	p.D201D	NLRX1_ENST00000409991.1_Silent_p.D201D|NLRX1_ENST00000409265.4_Silent_p.D201D|NLRX1_ENST00000525863.1_Silent_p.D201D|NLRX1_ENST00000292199.2_Silent_p.D201D	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	201	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCTGTGAGGACCTGTCATCCC	0.647																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(601-603)gaC>gaT		NLR family member X1							60.0	51.0	54.0					11																	119044561		2200	4295	6495	SO:0001819	synonymous_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119044561C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.603C>T	11.37:g.119044561C>T						NLRX1_ENST00000292199.2_Silent_p.D201D|NLRX1_ENST00000409991.1_Silent_p.D201D|NLRX1_ENST00000525863.1_Silent_p.D201D|NLRX1_ENST00000409265.4_Silent_p.D201D	p.D201D			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	5	1190	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	201			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	c.603C>T	CCDS8416.1																																																																																				0.647	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		26	45	0	0	0	1	0	26	45				
NBEA	26960	broad.mit.edu	37	13	35624439	35624439	+	Silent	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:35624439T>A	ENST00000400445.3	+	6	1413	c.879T>A	c.(877-879)gcT>gcA	p.A293A	NBEA_ENST00000379939.2_Silent_p.A293A|NBEA_ENST00000540320.1_Silent_p.A293A|NBEA_ENST00000310336.4_Silent_p.A293A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	293					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTTACTCTGCTCATTTTGTTG	0.353																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(877-879)gcT>gcA		neurobeachin							73.0	63.0	66.0					13																	35624439		1828	4081	5909	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35624439T>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.879T>A	13.37:g.35624439T>A						NBEA_ENST00000379939.2_Silent_p.A293A|NBEA_ENST00000310336.4_Silent_p.A293A|NBEA_ENST00000540320.1_Silent_p.A293A	p.A293A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	6	1413	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	293					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.879T>A	CCDS45026.1																																																																																				0.353	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		8	8	0	0	0	1	0	8	8				
RNF39	80352	broad.mit.edu	37	6	30039052	30039052	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:30039052C>T	ENST00000244360.6	-	4	1196	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	RNF39_ENST00000376751.3_Intron	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	367	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										TCCAGGTCCACGCGAATGCGC	0.751																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(1099-1101)Gtg>Atg		ring finger protein 39							11.0	10.0	11.0					6																	30039052		1488	2667	4155	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30039052C>T	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.1099G>A	6.37:g.30039052C>T	ENSP00000244360:p.Val367Met					RNF39_ENST00000376751.3_Intron	p.V367M	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			4	1196	-			367			B30.2/SPRY.		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.1099G>A	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	16.37	3.104000	0.56291	.	.	ENSG00000204618	ENST00000244360	T	0.74632	-0.86	4.43	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.38548	N	0.001655	D	0.85665	0.5749	M	0.93720	3.45	0.39166	D	0.962492	D	0.89917	1.0	D	0.91635	0.999	D	0.88155	0.2853	9	.	.	.	-39.6507	8.7837	0.34807	0.0:0.8946:0.0:0.1054	.	367	Q9H2S5	RNF39_HUMAN	M	367	ENSP00000244360:V367M	.	V	-	1	0	RNF39	30147031	0.986000	0.35501	1.000000	0.80357	0.309000	0.27889	2.741000	0.47426	2.195000	0.70347	0.282000	0.19409	GTG		0.751	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		4	15	0	0	0	1	0	4	15				
TMPRSS13	84000	broad.mit.edu	37	11	117779388	117779388	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:117779388G>A	ENST00000430170.2	-	9	1308	c.1221C>T	c.(1219-1221)acC>acT	p.T407T	TMPRSS13_ENST00000445164.2_Silent_p.T407T|TMPRSS13_ENST00000528626.1_Silent_p.T372T|TMPRSS13_ENST00000526090.1_Silent_p.T407T|TMPRSS13_ENST00000524993.1_Silent_p.T407T	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	407	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCTCCTCATCGGTGTAATTGC	0.617																																						ENST00000528626.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(1114-1116)acC>acT		transmembrane protease, serine 13							42.0	47.0	45.0					11																	117779388		2155	4255	6410	SO:0001819	synonymous_variant	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117779388G>A	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.1221C>T	11.37:g.117779388G>A						TMPRSS13_ENST00000526090.1_Silent_p.T407T|TMPRSS13_ENST00000524993.1_Silent_p.T407T|TMPRSS13_ENST00000445164.2_Silent_p.T407T|TMPRSS13_ENST00000430170.2_Silent_p.T407T	p.T372T	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	8	1189	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	402			Peptidase S1.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	c.1116C>T	CCDS58185.1																																																																																				0.617	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		11	5	0	0	0	1	0	11	5				
GPR78	27201	broad.mit.edu	37	4	8588799	8588799	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:8588799C>A	ENST00000382487.4	+	3	1218	c.801C>A	c.(799-801)ccC>ccA	p.P267P	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	267					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AGCTCGTGCCCTTCGTCACCG	0.652																																						ENST00000382487.4																			0				central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(799-801)ccC>ccA		G protein-coupled receptor 78							36.0	36.0	36.0					4																	8588799		2203	4299	6502	SO:0001819	synonymous_variant	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8588799C>A	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.801C>A	4.37:g.8588799C>A						GPR78_ENST00000509216.1_3'UTR	p.P267P	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN			3	1218	+			267					Q8NGV3	Silent	SNP	ENST00000382487.4	37	c.801C>A	CCDS3403.1																																																																																				0.652	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			24	36	1	0	5.45024e-15	1	5.86486e-15	24	36				
MAP1S	55201	broad.mit.edu	37	19	17836817	17836817	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17836817C>T	ENST00000324096.4	+	5	775	c.624C>T	c.(622-624)tgC>tgT	p.C208C	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.C182C|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	208	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						AGGGCCTGTGCGAATTCCTGG	0.716																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(622-624)tgC>tgT		microtubule-associated protein 1S							23.0	24.0	24.0					19																	17836817		2201	4297	6498	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17836817C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.624C>T	19.37:g.17836817C>T						MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.C182C	p.C208C	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	775	+			208			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.624C>T	CCDS32954.1																																																																																				0.716	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		13	15	0	0	0	1	0	13	15				
LPCAT3	10162	broad.mit.edu	37	12	7090985	7090985	+	Silent	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:7090985A>T	ENST00000261407.4	-	4	532	c.447T>A	c.(445-447)acT>acA	p.T149T	LPCAT3_ENST00000535021.1_5'Flank|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	149					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TCAGCTTCAAAGTCAGAACAC	0.522																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(445-447)acT>acA		lysophosphatidylcholine acyltransferase 3							179.0	147.0	158.0					12																	7090985		2203	4300	6503	SO:0001819	synonymous_variant	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7090985A>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.447T>A	12.37:g.7090985A>T						U47924.19_ENST00000564245.1_RNA	p.T149T	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			4	532	-			149					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Silent	SNP	ENST00000261407.4	37	c.447T>A	CCDS8572.1																																																																																				0.522	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		5	81	0	0	0	1	0	5	81				
UBC	7316	broad.mit.edu	37	12	125397363	125397363	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:125397363G>A	ENST00000536769.1	-	1	2531	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	UBC_ENST00000546120.1_Missense_Mutation_p.L243F|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Missense_Mutation_p.L319F|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	319	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCACTTCGAGAGTGATGGTC	0.517																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(955-957)Ctc>Ttc		ubiquitin C							91.0	77.0	82.0					12																	125397363		2202	4282	6484	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397363G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.955C>T	12.37:g.125397363G>A	ENSP00000441543:p.Leu319Phe					UBC_ENST00000339647.5_Missense_Mutation_p.L319F|UBC_ENST00000546120.1_Missense_Mutation_p.L243F|UBC_ENST00000538617.1_Intron	p.L319F			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2531	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		319			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.955C>T	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318810	0.23994	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.75050	-0.9;-0.9;-0.9	2.94	2.02	0.26589	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.38720	U	0.001586	T	0.82208	0.4987	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.63046	0.982;0.992;0.982	D;D;D	0.70935	0.92;0.971;0.92	T	0.81195	-0.1043	10	0.87932	D	0	.	7.9978	0.30277	0.1302:0.0:0.8698:0.0	.	408;319;319	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	F	319;319;243;319;243	ENSP00000441543:L319F;ENSP00000344818:L319F;ENSP00000438394:L243F	ENSP00000344818:L319F	L	-	1	0	UBC	123963316	1.000000	0.71417	0.993000	0.49108	0.070000	0.16714	6.233000	0.72320	0.595000	0.29777	0.549000	0.68633	CTC		0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		70	189	0	0	0	1	0	70	189				
NR2F1	7025	broad.mit.edu	37	5	92929320	92929320	+	Silent	SNP	G	G	A	rs142689077		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:92929320G>A	ENST00000327111.3	+	3	2731	c.1044G>A	c.(1042-1044)tcG>tcA	p.S348S	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	348					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AGGAGAAGTCGCAGTGCGCAC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		11920	0.0		0.001	False		,,,				2504	0.0					ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1042-1044)tcG>tcA		nuclear receptor subfamily 2, group F, member 1		G		0,4406		0,0,2203	70.0	76.0	74.0		1044	-6.7	0.9	5	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NR2F1	NM_005654.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		348/424	92929320	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92929320G>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1044G>A	5.37:g.92929320G>A						NR2F1_ENST00000506162.1_3'UTR	p.S348S	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	3	2731	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	348						Silent	SNP	ENST00000327111.3	37	c.1044G>A	CCDS4068.1																																																																																				0.647	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		69	110	0	0	0	1	0	69	110				
EIF4ENIF1	56478	broad.mit.edu	37	22	31836101	31836101	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:31836101T>C	ENST00000397525.1	-	19	2946	c.2723A>G	c.(2722-2724)cAt>cGt	p.H908R	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.H908R|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.H884R|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.H563R|EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.H734R	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	908						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCCTGGAGGATGCAGAACTGT	0.512																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2722-2724)cAt>cGt		eukaryotic translation initiation factor 4E nuclear import factor 1							48.0	49.0	48.0					22																	31836101		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31836101T>C	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2723A>G	22.37:g.31836101T>C	ENSP00000380659:p.His908Arg					EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.H563R|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.H884R|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.H734R|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.H908R	p.H908R	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			19	2946	-			908					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.2723A>G	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523725	0.44866	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.52273	0.1724	L	0.45581	1.43	0.40281	D	0.978392	P;P;B;D	0.53885	0.651;0.651;0.003;0.963	B;B;B;P	0.46796	0.15;0.107;0.006;0.527	T	0.54118	-0.8341	9	0.40728	T	0.16	-16.2314	14.1353	0.65284	0.0:0.0:0.0:1.0	.	734;908;733;884	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	R	734;908;908;884;563	.	ENSP00000328103:H908R	H	-	2	0	EIF4ENIF1	30166101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.867000	0.48428	2.281000	0.76405	0.533000	0.62120	CAT		0.512	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		44	60	0	0	0	1	0	44	60				
ANKRD27	84079	broad.mit.edu	37	19	33095253	33095253	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:33095253G>A	ENST00000306065.4	-	25	2729	c.2571C>T	c.(2569-2571)ttC>ttT	p.F857F		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	857					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.F857F(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCTCTACCACGAAGACGTGCT	0.557																																						ENST00000306065.4																			1	Substitution - coding silent(1)	p.F857F(1)	breast(1)	breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(2569-2571)ttC>ttT		ankyrin repeat domain 27 (VPS9 domain)							75.0	56.0	62.0					19																	33095253		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33095253G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2571C>T	19.37:g.33095253G>A							p.F857F	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			25	2729	-	Esophageal squamous(110;0.137)		857					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.2571C>T	CCDS32986.1																																																																																				0.557	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		23	25	0	0	0	1	0	23	25				
CD37	951	broad.mit.edu	37	19	49841230	49841230	+	Missense_Mutation	SNP	G	G	A	rs147415665		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49841230G>A	ENST00000323906.4	+	5	532	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	CD37_ENST00000426897.2_Missense_Mutation_p.G63S|CD37_ENST00000598095.1_Missense_Mutation_p.G63S|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000535669.2_Missense_Mutation_p.G131S|CD37_ENST00000596426.1_3'UTR	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	131					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CCAAAAGTACGGCACCAACCC	0.642																																						ENST00000535669.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11						c.(391-393)Ggc>Agc		CD37 molecule							112.0	101.0	105.0					19																	49841230		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr19:49841230G>A		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.391G>A	19.37:g.49841230G>A	ENSP00000325708:p.Gly131Ser					CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_Missense_Mutation_p.G63S|CD37_ENST00000323906.4_Missense_Mutation_p.G131S|CD37_ENST00000426897.2_Missense_Mutation_p.G63S|CD37_ENST00000596426.1_3'UTR	p.G131S			P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	5	505	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	131					B4DVC1|Q3KPF9	Missense_Mutation	SNP	ENST00000323906.4	37	c.391G>A	CCDS12760.1	.	.	.	.	.	.	.	.	.	.	g	5.912	0.352321	0.11182	.	.	ENSG00000104894	ENST00000323906;ENST00000426897;ENST00000535669	T;T;T	0.78595	-1.19;-1.19;-1.19	3.69	0.0683	0.14369	Tetraspanin, EC2 domain (1);	0.913828	0.09217	N	0.832386	T	0.59018	0.2163	N	0.12961	0.28	0.09310	N	1	B;P;P;P	0.40794	0.045;0.729;0.729;0.727	B;B;B;B	0.38562	0.053;0.195;0.195;0.276	T	0.40440	-0.9563	10	0.09084	T	0.74	.	12.1629	0.54113	0.0:0.6707:0.3293:0.0	.	63;131;131;131	B4DVC1;B7ZAN3;B4DW15;P11049	.;.;.;CD37_HUMAN	S	131;63;131	ENSP00000325708:G131S;ENSP00000413151:G63S;ENSP00000441037:G131S	ENSP00000325708:G131S	G	+	1	0	CD37	54533042	0.044000	0.20184	0.111000	0.21465	0.007000	0.05969	0.003000	0.13083	-0.088000	0.12506	-1.988000	0.00451	GGC		0.642	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			22	33	0	0	0	1	0	22	33				
NLRP9	338321	broad.mit.edu	37	19	56249561	56249561	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:56249561G>A	ENST00000332836.2	-	1	207	c.180C>T	c.(178-180)gaC>gaT	p.D60D	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	60	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGTAATGTTTGTCCAGCAGCT	0.468																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(178-180)gaC>gaT		NLR family, pyrin domain containing 9							400.0	396.0	397.0					19																	56249561		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56249561G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.180C>T	19.37:g.56249561G>A							p.D60D	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	1	207	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	60			DAPIN.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.180C>T	CCDS12934.1																																																																																				0.468	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		248	323	0	0	0	1	0	248	323				
TAF8	129685	broad.mit.edu	37	6	42036324	42036324	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:42036324C>T	ENST00000372977.3	+	7	777	c.759C>T	c.(757-759)aaC>aaT	p.N253N	TAF8_ENST00000456846.2_Silent_p.N253N|TAF8_ENST00000372982.4_Silent_p.N253N|TAF8_ENST00000494547.1_Silent_p.N253N|TAF8_ENST00000465926.1_Silent_p.N177N	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	253					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ACACAGAGAACCTTGCTCTTC	0.532																																						ENST00000372977.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(757-759)aaC>aaT		TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa							175.0	184.0	181.0					6																	42036324		2074	4204	6278	SO:0001819	synonymous_variant	129685				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding	g.chr6:42036324C>T	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.759C>T	6.37:g.42036324C>T						TAF8_ENST00000456846.2_Silent_p.N253N|TAF8_ENST00000465926.1_Silent_p.N177N|TAF8_ENST00000494547.1_Silent_p.N253N|TAF8_ENST00000372982.4_Silent_p.N253N	p.N253N	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)		7	777	+	Colorectal(47;0.196)		253					Q5T0K1|Q8N4R9|Q96M52	Silent	SNP	ENST00000372977.3	37	c.759C>T	CCDS43462.1																																																																																				0.532	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1	NM_138572		80	212	0	0	0	1	0	80	212				
POU3F2	5454	broad.mit.edu	37	6	99283719	99283719	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:99283719C>T	ENST00000328345.5	+	1	1140	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	324	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L324L(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CATGTGCAAGCTGAAGCCTTT	0.587																																						ENST00000328345.5																			1	Substitution - coding silent(1)	p.L324L(1)	large_intestine(1)	endometrium(2)|large_intestine(3)|lung(5)	10						c.(970-972)Ctg>Ttg		POU class 3 homeobox 2							135.0	137.0	136.0					6																	99283719		2203	4300	6503	SO:0001819	synonymous_variant	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283719C>T	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.970C>T	6.37:g.99283719C>T							p.L324L	NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	1140	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	324			POU-specific.		Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	c.970C>T	CCDS5040.1																																																																																				0.587	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			237	163	0	0	0	1	0	237	163				
KCND2	3751	broad.mit.edu	37	7	120386010	120386010	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:120386010C>T	ENST00000331113.4	+	5	2609	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	548					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TATCAGGAAGCCATCAAGGTA	0.443																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1642-1644)agC>agT		potassium voltage-gated channel, Shal-related subfamily, member 2							133.0	109.0	117.0					7																	120386010		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120386010C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1644C>T	7.37:g.120386010C>T							p.S548S	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			5	2609	+	all_neural(327;0.117)		548					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.1644C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216453	0.22373	.	.	ENSG00000184408	ENST00000425288	.	.	.	6.06	4.09	0.47781	.	.	.	.	.	T	0.69717	0.3142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67158	-0.5741	4	.	.	.	.	14.2759	0.66179	0.0:0.9124:0.0:0.0876	.	.	.	.	V	134	.	.	A	+	2	0	KCND2	120173246	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.114000	0.41911	0.698000	0.31739	0.655000	0.94253	GCC		0.443	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		23	52	0	0	0	1	0	23	52				
HLA-DMB	3109	broad.mit.edu	37	6	32904929	32904929	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:32904929T>C	ENST00000416244.2	-	3	836	c.642A>G	c.(640-642)ggA>ggG	p.G214G	AL645941.1_ENST00000390777.1_RNA|HLA-DMB_ENST00000418107.2_Intron			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	0	Connecting peptide. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CCTAATTCCATCCATCTGCCA	0.507																																						ENST00000416244.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(640-642)ggA>ggG		major histocompatibility complex, class II, DM beta							71.0	73.0	72.0					6																	32904929		2203	4300	6503	SO:0001819	synonymous_variant	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32904929T>C		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000416244.2:c.642A>G	6.37:g.32904929T>C						HLA-DMB_ENST00000418107.2_Intron	p.G214G			P28068	DMB_HUMAN			3	836	-			0			Connecting peptide (Potential).		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	ENST00000416244.2	37	c.642A>G																																																																																					0.507	HLA-DMB-213	KNOWN	basic	protein_coding	protein_coding		NM_002118		5	98	0	0	0	1	0	5	98				
GNAS	2778	broad.mit.edu	37	20	57428472	57428472	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:57428472C>T	ENST00000371100.4	+	1	704	c.152C>T	c.(151-153)aCc>aTc	p.T51I	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.T51I|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_5'Flank|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.T51I	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGATGGAGACCGAACCGCCT	0.652			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(151-153)aCc>aTc		GNAS complex locus							16.0	19.0	18.0					20																	57428472		1880	4106	5986	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57428472C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.152C>T	20.37:g.57428472C>T	ENSP00000360141:p.Thr51Ile	TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.T51I|GNAS_ENST00000371102.4_Missense_Mutation_p.T51I|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR	p.T51I	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	704	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.152C>T	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905665	0.52333	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.90620	-2.7;-2.69	4.56	4.56	0.56223	.	.	.	.	.	D	0.87720	0.6248	L	0.51422	1.61	0.80722	D	1	P	0.48162	0.906	B	0.41036	0.346	D	0.89279	0.3610	9	0.72032	D	0.01	.	13.5289	0.61611	0.0:1.0:0.0:0.0	.	51	Q5JWF2	GNAS1_HUMAN	I	51	ENSP00000360141:T51I;ENSP00000360143:T51I	ENSP00000360140:T51I	T	+	2	0	GNAS	56861867	0.977000	0.34250	0.950000	0.38849	0.956000	0.61745	3.666000	0.54540	2.469000	0.83416	0.563000	0.77884	ACC		0.652	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		16	4	0	0	0	1	0	16	4				
SLC25A53	401612	broad.mit.edu	37	X	103349203	103349203	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:103349203C>A	ENST00000357421.4	-	2	918	c.738G>T	c.(736-738)caG>caT	p.Q246H		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	246					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TTGGCATGTTCTGCCATCCAA	0.527																																						ENST00000357421.4																			0											c.(736-738)caG>caT		solute carrier family 25, member 53							52.0	44.0	47.0					X																	103349203		2203	4300	6503	SO:0001583	missense	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349203C>A		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.738G>T	X.37:g.103349203C>A	ENSP00000361681:p.Gln246His						p.Q246H	NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN			2	918	-			246					B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	c.738G>T	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	c	11.88	1.769682	0.31320	.	.	ENSG00000176274	ENST00000357421	T	0.79454	-1.27	4.18	2.36	0.29203	Mitochondrial carrier domain (2);	0.212173	0.40818	N	0.001012	T	0.63558	0.2521	L	0.36672	1.1	0.33508	D	0.590717	B	0.02656	0.0	B	0.04013	0.001	T	0.60475	-0.7256	10	0.46703	T	0.11	-25.0101	5.1419	0.14963	0.0:0.6719:0.2069:0.1212	.	246	Q5H9E4	MCAR6_HUMAN	H	246	ENSP00000361681:Q246H	ENSP00000361681:Q246H	Q	-	3	2	MCART6	103235859	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.878000	0.28126	0.346000	0.23899	0.594000	0.82650	CAG		0.527	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		24	48	1	0	1.22574e-08	1	1.28894e-08	24	48				
ATP1A4	480	broad.mit.edu	37	1	160141103	160141103	+	Silent	SNP	G	G	A	rs142215427		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:160141103G>A	ENST00000368081.4	+	11	2025	c.1554G>A	c.(1552-1554)ccG>ccA	p.P518P		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	518					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGGTGCTCCGGAGAGGATCT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		17489	0.001		0.0	False		,,,				2504	0.0					ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(1552-1554)ccG>ccA		ATPase, Na+/K+ transporting, alpha 4 polypeptide							138.0	131.0	133.0					1																	160141103		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160141103G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1554G>A	1.37:g.160141103G>A							p.P518P	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	2025	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		518					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.1554G>A	CCDS1197.1																																																																																				0.502	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		56	62	0	0	0	1	0	56	62				
JAK3	3718	broad.mit.edu	37	19	17955064	17955064	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17955064C>T	ENST00000527670.1	-	1	192	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	JAK3_ENST00000534444.1_Missense_Mutation_p.V55M|JAK3_ENST00000458235.1_Missense_Mutation_p.V55M|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	55	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.V55L(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GCAGCCTGCACGCACAGGTCC	0.657		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		2	Substitution - Missense(2)	p.V55L(2)	lung(2)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(163-165)Gtg>Atg		Janus kinase 3							15.0	17.0	17.0					19																	17955064		2200	4292	6492	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17955064C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.163G>A	19.37:g.17955064C>T	ENSP00000432511:p.Val55Met					JAK3_ENST00000534444.1_Missense_Mutation_p.V55M|JAK3_ENST00000527670.1_Missense_Mutation_p.V55M|JAK3_ENST00000526008.1_5'UTR	p.V55M	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			2	262	-			55			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.163G>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310027	0.60414	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.76839	-1.05;-1.05;-1.05	5.28	4.24	0.50183	Band 4.1 domain (1);FERM domain (1);	0.291781	0.30752	N	0.008946	D	0.82481	0.5046	L	0.55481	1.735	0.35454	D	0.795949	D;D;D;P	0.89917	1.0;1.0;0.989;0.945	D;D;P;B	0.69479	0.964;0.964;0.606;0.194	D	0.86316	0.1689	10	0.87932	D	0	-24.4757	8.8494	0.35190	0.0:0.9002:0.0:0.0998	.	98;55;55;55	B4E2R5;B4DK43;P52333-2;P52333	.;.;.;JAK3_HUMAN	M	55	ENSP00000391676:V55M;ENSP00000432511:V55M;ENSP00000436421:V55M	ENSP00000413248:V55M	V	-	1	0	JAK3	17816064	0.976000	0.34144	0.724000	0.30704	0.983000	0.72400	2.785000	0.47782	2.452000	0.82932	0.655000	0.94253	GTG		0.657	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		8	11	0	0	0	1	0	8	11				
ADCY3	109	broad.mit.edu	37	2	25050931	25050931	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:25050931C>T	ENST00000260600.5	-	13	3123	c.2272G>A	c.(2272-2274)Gcc>Acc	p.A758T	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	758					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GACAGCACGGCCACATAGTTG	0.597											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2272-2274)Gcc>Acc		adenylate cyclase 3							111.0	86.0	95.0					2																	25050931		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25050931C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2272G>A	2.37:g.25050931C>T	ENSP00000260600:p.Ala758Thr		OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	776	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	p.A758T	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			13	3123	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		758					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2272G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803993	0.70682	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T	0.76578	-1.03;-1.03;-1.03	5.0	5.0	0.66597	.	0.053826	0.85682	D	0.000000	T	0.69242	0.3089	L	0.31664	0.95	0.80722	D	1	B;B	0.33883	0.43;0.43	B;B	0.34038	0.122;0.174	T	0.67937	-0.5541	10	0.33141	T	0.24	.	18.1003	0.89504	0.0:1.0:0.0:0.0	.	758;758	B7ZLX9;O60266	.;ADCY3_HUMAN	T	758;733;97;101	ENSP00000260600:A758T;ENSP00000402008:A97T;ENSP00000410972:A101T	ENSP00000260600:A758T	A	-	1	0	ADCY3	24904435	1.000000	0.71417	0.642000	0.29436	0.861000	0.49209	7.573000	0.82421	2.608000	0.88229	0.561000	0.74099	GCC		0.597	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			29	27	0	0	0	1	0	29	27				
HK2	3099	broad.mit.edu	37	2	75113749	75113749	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:75113749C>T	ENST00000290573.2	+	15	2768	c.2168C>T	c.(2167-2169)aCa>aTa	p.T723I	HK2_ENST00000409174.1_Missense_Mutation_p.T695I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	723	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GACTTCCGCACAGAATTTGAT	0.562																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(2167-2169)aCa>aTa		hexokinase 2							103.0	107.0	106.0					2																	75113749		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75113749C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2168C>T	2.37:g.75113749C>T	ENSP00000290573:p.Thr723Ile					HK2_ENST00000409174.1_Missense_Mutation_p.T695I	p.T723I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			15	2768	+			723			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2168C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458139	0.84317	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.99136	-5.47;-5.47	5.49	5.49	0.81192	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98294	1.0515	10	0.87932	D	0	-17.8065	16.9239	0.86170	0.0:1.0:0.0:0.0	.	723	P52789	HXK2_HUMAN	I	723;723;695	ENSP00000290573:T723I;ENSP00000387140:T695I	ENSP00000290573:T723I	T	+	2	0	HK2	74967257	1.000000	0.71417	0.970000	0.41538	0.720000	0.41350	7.598000	0.82745	2.865000	0.98341	0.655000	0.94253	ACA		0.562	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		54	80	0	0	0	1	0	54	80				
SPACA3	124912	broad.mit.edu	37	17	31323957	31323957	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:31323957G>A	ENST00000269053.3	+	3	510	c.440G>A	c.(439-441)aGc>aAc	p.S147N	SPACA3_ENST00000394638.1_Missense_Mutation_p.S44N|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.S78N	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	147					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CAGATCAACAGCCGGAGGTGG	0.607																																						ENST00000580599.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18						c.(232-234)aGc>aAc		sperm acrosome associated 3							109.0	97.0	101.0					17																	31323957		2203	4300	6503	SO:0001583	missense	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31323957G>A	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.440G>A	17.37:g.31323957G>A	ENSP00000269053:p.Ser147Asn					SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Missense_Mutation_p.S147N|SPACA3_ENST00000394638.1_Missense_Mutation_p.S44N	p.S78N			Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		4	642	+			147					Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.233G>A	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855731	0.51376	.	.	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	T;T	0.78246	-1.16;-1.16	4.71	2.71	0.32032	Lysozyme-like domain (1);	0.058792	0.64402	N	0.000005	T	0.80778	0.4688	L	0.56769	1.78	0.26946	N	0.966133	P	0.47191	0.891	P	0.58780	0.845	T	0.71059	-0.4702	10	0.66056	D	0.02	-0.3464	7.0335	0.24980	0.2058:0.0:0.7942:0.0	.	147	Q8IXA5	SACA3_HUMAN	N	147;44;148;55	ENSP00000269053:S147N;ENSP00000378134:S44N	ENSP00000269053:S147N	S	+	2	0	SPACA3	28348070	1.000000	0.71417	0.867000	0.34043	0.541000	0.35023	5.970000	0.70431	1.203000	0.43233	0.297000	0.19635	AGC		0.607	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		61	72	0	0	0	1	0	61	72				
ECE2	9718	broad.mit.edu	37	3	183994375	183994375	+	Intron	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:183994375C>T	ENST00000402825.3	+	3	480				ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.P49L|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGCTTCCCCTTTCTCACCA	0.687																																						ENST00000357474.5																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(145-147)cCt>cTt		endothelin converting enzyme 2							17.0	20.0	19.0					3																	183994375		1966	4130	6096	SO:0001627	intron_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183994375C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.481-305C>T	3.37:g.183994375C>T						ECE2_ENST00000359140.4_Intron|ECE2_ENST00000404464.3_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron	p.P49L			O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	265	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		0			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.146C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621520	0.46736	.	.	ENSG00000145194	ENST00000357474	D	0.81659	-1.52	3.36	1.42	0.22433	.	1.045000	0.07803	U	0.956839	T	0.59569	0.2203	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44421	-0.9329	9	.	.	.	.	5.4005	0.16293	0.0:0.6673:0.2082:0.1246	.	49;49	B7Z1P1;O60344-5	.;.	L	49	ENSP00000350066:P49L	.	P	+	2	0	ECE2	185477069	0.000000	0.05858	0.004000	0.12327	0.858000	0.48976	-0.110000	0.10824	0.366000	0.24427	0.462000	0.41574	CCT		0.687	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		7	17	0	0	0	1	0	7	17				
OAF	220323	broad.mit.edu	37	11	120097673	120097673	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:120097673G>A	ENST00000328965.4	+	3	1028	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OAF_ENST00000531220.1_Missense_Mutation_p.R56H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	172						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ATCTACACCCGCCAGGAGGAT	0.647																																						ENST00000328965.4																			0				kidney(1)|lung(5)	6						c.(514-516)cGc>cAc		OAF homolog (Drosophila)							43.0	38.0	39.0					11																	120097673		2203	4300	6503	SO:0001583	missense	220323							g.chr11:120097673G>A	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.515G>A	11.37:g.120097673G>A	ENSP00000332613:p.Arg172His					OAF_ENST00000531220.1_Missense_Mutation_p.R56H	p.R172H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	3	1028	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	172						Missense_Mutation	SNP	ENST00000328965.4	37	c.515G>A	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229765	0.79688	.	.	ENSG00000184232	ENST00000328965;ENST00000531220	T;T	0.47177	0.85;0.85	5.3	4.39	0.52855	.	0.108226	0.64402	D	0.000008	T	0.68933	0.3055	M	0.80847	2.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.74210	-0.3739	10	0.87932	D	0	-20.0037	13.8657	0.63588	0.0738:0.0:0.9262:0.0	.	172	Q86UD1	OAF_HUMAN	H	172;56	ENSP00000332613:R172H;ENSP00000431865:R56H	ENSP00000332613:R172H	R	+	2	0	OAF	119602883	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	9.402000	0.97298	1.228000	0.43614	0.462000	0.41574	CGC		0.647	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		27	24	0	0	0	1	0	27	24				
KIAA2022	340533	broad.mit.edu	37	X	73960123	73960123	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:73960123G>A	ENST00000055682.6	-	3	4880	c.4269C>T	c.(4267-4269)cgC>cgT	p.R1423R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1423					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAAGGTAGAGCGAGAGTCCT	0.443																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(4267-4269)cgC>cgT		KIAA2022							199.0	166.0	177.0					X																	73960123		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960123G>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4269C>T	X.37:g.73960123G>A						KIAA2022_ENST00000055682.5_Silent_p.R1423R	p.R1423R			Q5QGS0	K2022_HUMAN			3	4920	-			1423					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.4269C>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	1.579	-0.532140	0.04112	.	.	ENSG00000050030	ENST00000424929	.	.	.	5.36	-0.976	0.10286	.	.	.	.	.	T	0.23766	0.0575	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27806	-1.0063	4	.	.	.	9.7036	5.024	0.14376	0.2659:0.0:0.505:0.2291	.	.	.	.	F	25	.	.	L	-	1	0	KIAA2022	73876848	0.996000	0.38824	0.015000	0.15790	0.917000	0.54804	0.602000	0.24134	-0.409000	0.07553	-0.245000	0.11935	CTC		0.443	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		59	73	0	0	0	1	0	59	73				
PRKDC	5591	broad.mit.edu	37	8	48801143	48801143	+	Missense_Mutation	SNP	G	G	A	rs567674136		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:48801143G>A	ENST00000314191.2	-	35	4402	c.4346C>T	c.(4345-4347)gCt>gTt	p.A1449V	PRKDC_ENST00000523565.1_5'UTR|AC103686.1_ENST00000390136.2_RNA|PRKDC_ENST00000338368.3_Missense_Mutation_p.A1449V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1450					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGACACAACAGCAGCCAGCCT	0.448								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(4345-4347)gCt>gTt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							29.0	31.0	30.0					8																	48801143		1988	4188	6176	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48801143G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4346C>T	8.37:g.48801143G>A	ENSP00000313420:p.Ala1449Val					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A1449V	p.A1449V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			35	4402	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1450					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4346C>T		.	.	.	.	.	.	.	.	.	.	G	13.90	2.376311	0.42105	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02525	4.33;4.26	5.37	5.37	0.77165	.	0.570773	0.18553	N	0.137856	T	0.03305	0.0096	N	0.19112	0.55	0.09310	N	1	B;B	0.22800	0.075;0.075	B;B	0.27500	0.08;0.055	T	0.49634	-0.8919	10	0.18276	T	0.48	.	19.1121	0.93319	0.0:0.0:1.0:0.0	.	1449;1450	E7EUY0;P78527	.;PRKDC_HUMAN	V	1449	ENSP00000313420:A1449V;ENSP00000345182:A1449V	ENSP00000313420:A1449V	A	-	2	0	PRKDC	48963696	1.000000	0.71417	0.006000	0.13384	0.506000	0.33950	7.050000	0.76620	2.517000	0.84864	0.591000	0.81541	GCT		0.448	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	15	0	0	0	1	0	7	15				
TBC1D3P5	440419	broad.mit.edu	37	17	25748146	25748146	+	RNA	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:25748146G>A	ENST00000586223.1	+	0	533					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GGAACTGCCCGGTCAGAGCCC	0.627																																						ENST00000586223.1																			0																																																			0							g.chr17:25748146G>A			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25748146G>A								NR_033892.1						0	533	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.627	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		11	11	0	0	0	1	0	11	11				
ESX1	80712	broad.mit.edu	37	X	103495020	103495020	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:103495020C>T	ENST00000372588.4	-	4	1193	c.1110G>A	c.(1108-1110)ccG>ccA	p.P370P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	370	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)	p.P370P(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGCCATGGGCGGCCCGGGTG	0.697																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			1	Substitution - coding silent(1)	p.P370P(1)	lung(1)	endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(1108-1110)ccG>ccA		ESX homeobox 1							24.0	23.0	23.0					X																	103495020		2203	4300	6503	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495020C>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1110G>A	X.37:g.103495020C>T							p.P370P	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			4	1193	-			370			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.1110G>A	CCDS14516.1																																																																																				0.697	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		27	37	0	0	0	1	0	27	37				
CTRB1	1504	broad.mit.edu	37	16	75258615	75258615	+	Missense_Mutation	SNP	G	G	A	rs375112297		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:75258615G>A	ENST00000361017.4	+	7	651	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	RP11-331F4.4_ENST00000489723.1_RNA	NM_001906.4	NP_001897.4	P17538	CTRB1_HUMAN	chymotrypsinogen B1	215	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.166)	Aprotinin(DB06692)	CGACTCTGGCGGCCCCCTGGT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16048	0.0		0.001	False		,,,				2504	0.0					ENST00000361017.4																			0				central_nervous_system(1)|lung(1)	2						c.(643-645)Ggc>Agc		chymotrypsinogen B1		G	SER/GLY	0,4396		0,0,2198	43.0	45.0	44.0		643	3.6	0.7	16		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTRB1	NM_001906.4	56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	215/264	75258615	1,12995	2198	4300	6498	SO:0001583	missense	1504							g.chr16:75258615G>A		CCDS32490.1	16q23.1	2008-02-05			ENSG00000168925	ENSG00000168925	3.4.21.1		2521	protein-coding gene	gene with protein product		118890		CTRB		2917002, 8186414	Standard	NM_001906		Approved		uc002fds.3	P17538	OTTHUMG00000159272	ENST00000361017.4:c.643G>A	16.37:g.75258615G>A	ENSP00000354294:p.Gly215Ser						p.G215S	NM_001906.4	NP_001897.4				BRCA - Breast invasive adenocarcinoma(221;0.166)	7	651	+									Missense_Mutation	SNP	ENST00000361017.4	37	c.643G>A	CCDS32490.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035773	0.75617	0.0	1.16E-4	ENSG00000168925	ENST00000361017	D	0.95788	-3.81	4.57	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	U	0.000001	D	0.97405	0.9151	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97631	1.0142	9	0.87932	D	0	.	12.1399	0.53993	0.0846:0.0:0.9154:0.0	.	215	P17538	CTRB1_HUMAN	S	215	ENSP00000354294:G215S	ENSP00000354294:G215S	G	+	1	0	CTRB1	73816116	1.000000	0.71417	0.709000	0.30452	0.507000	0.33981	6.418000	0.73341	1.142000	0.42291	0.462000	0.41574	GGC		0.662	CTRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354300.2	NM_001906		28	40	0	0	0	1	0	28	40				
RGS3	5998	broad.mit.edu	37	9	116356773	116356773	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:116356773T>C	ENST00000374140.2	+	23	3353	c.3144T>C	c.(3142-3144)ccT>ccC	p.P1048P	RGS3_ENST00000462143.1_Silent_p.P369P|RGS3_ENST00000342620.5_Silent_p.P18P|RGS3_ENST00000462403.1_Silent_p.P161P|RGS3_ENST00000374134.3_Silent_p.P369P|RGS3_ENST00000343817.5_Silent_p.P767P|RGS3_ENST00000394646.3_Silent_p.P441P|RGS3_ENST00000350696.5_Silent_p.P1048P	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1048					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGGAGCCCCTCCCGCGGGCA	0.587																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3142-3144)ccT>ccC		regulator of G-protein signaling 3							56.0	67.0	64.0					9																	116356773		2203	4300	6503	SO:0001819	synonymous_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356773T>C	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3144T>C	9.37:g.116356773T>C						RGS3_ENST00000462403.1_Silent_p.P161P|RGS3_ENST00000350696.5_Silent_p.P1048P|RGS3_ENST00000394646.3_Silent_p.P441P|RGS3_ENST00000374134.3_Silent_p.P369P|RGS3_ENST00000462143.1_Silent_p.P369P|RGS3_ENST00000343817.5_Silent_p.P767P|RGS3_ENST00000342620.5_Silent_p.P18P	p.P1048P	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			23	3353	+			1048					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	c.3144T>C	CCDS43869.1																																																																																				0.587	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		35	70	0	0	0	1	0	35	70				
ATM	472	broad.mit.edu	37	11	108165727	108165727	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:108165727T>G	ENST00000452508.2	+	33	5039	c.4850T>G	c.(4849-4851)cTt>cGt	p.L1617R	ATM_ENST00000278616.4_Missense_Mutation_p.L1617R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1617					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E1612_Q1620>*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTAAAGGATCTTCGAAGACAA	0.358			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		1	Complex - deletion inframe(1)	p.E1612_Q1620>*(1)	haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4849-4851)cTt>cGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							157.0	157.0	157.0					11																	108165727		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108165727T>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4850T>G	11.37:g.108165727T>G	ENSP00000388058:p.Leu1617Arg	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.L1617R	p.L1617R	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	32	5235	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1617					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.4850T>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472672	0.84640	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.78816	-1.21;-1.21	5.55	5.55	0.83447	Armadillo-type fold (1);	0.063724	0.64402	D	0.000006	D	0.85111	0.5622	M	0.68952	2.095	0.52099	D	0.999941	D	0.60575	0.988	P	0.59703	0.862	D	0.86965	0.2094	10	0.87932	D	0	.	15.6825	0.77381	0.0:0.0:0.0:1.0	.	1617	Q13315	ATM_HUMAN	R	1617	ENSP00000278616:L1617R;ENSP00000388058:L1617R	ENSP00000278616:L1617R	L	+	2	0	ATM	107670937	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.079000	0.76829	2.097000	0.63578	0.528000	0.53228	CTT		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		45	69	0	0	0	1	0	45	69				
PTBP2	58155	broad.mit.edu	37	1	97235320	97235320	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:97235320T>C	ENST00000426398.2	+	4	220	c.177T>C	c.(175-177)cgT>cgC	p.R59R	PTBP2_ENST00000370198.1_Silent_p.R59R|PTBP2_ENST00000370197.1_Silent_p.R59R|PTBP2_ENST00000394184.3_Silent_p.R70R|PTBP2_ENST00000541987.1_Silent_p.R28R|PTBP2_ENST00000609116.1_Silent_p.R59R|PTBP2_ENST00000482253.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	59	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CTCCTTCTCGTGTACTTCATA	0.343																																						ENST00000236228.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(175-177)cgT>cgC		polypyrimidine tract binding protein 2							114.0	124.0	121.0					1																	97235320		2203	4300	6503	SO:0001819	synonymous_variant	58155						nucleotide binding	g.chr1:97235320T>C	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.177T>C	1.37:g.97235320T>C						PTBP2_ENST00000426398.2_Silent_p.R59R|PTBP2_ENST00000541987.1_Silent_p.R28R|PTBP2_ENST00000370197.1_Silent_p.R59R|PTBP2_ENST00000394184.3_Silent_p.R70R|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Silent_p.R59R	p.R59R	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	4	259	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	59			RRM 1.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	ENST00000426398.2	37	c.177T>C	CCDS754.1																																																																																				0.343	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			45	72	0	0	0	1	0	45	72				
AHI1	54806	broad.mit.edu	37	6	135811796	135811796	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:135811796T>C	ENST00000367800.4	-	3	316	c.100A>G	c.(100-102)Aag>Gag	p.K34E	AHI1_ENST00000534469.1_Missense_Mutation_p.K34E|AHI1_ENST00000488690.2_Missense_Mutation_p.K34E|AHI1_ENST00000367798.2_Missense_Mutation_p.K34E|AHI1_ENST00000528103.1_Missense_Mutation_p.K34E|AHI1_ENST00000327035.6_Missense_Mutation_p.K34E|AHI1_ENST00000457866.2_Missense_Mutation_p.K34E|AHI1_ENST00000531527.1_5'Flank	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	34					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AGTTTTTTCTTCAGTTTTTTC	0.348																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(100-102)Aag>Gag		Abelson helper integration site 1							205.0	190.0	194.0					6																	135811796		1824	4074	5898	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135811796T>C	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.100A>G	6.37:g.135811796T>C	ENSP00000356774:p.Lys34Glu					AHI1_ENST00000367798.2_Missense_Mutation_p.K34E|AHI1_ENST00000534469.1_Missense_Mutation_p.K34E|AHI1_ENST00000457866.2_Missense_Mutation_p.K34E|AHI1_ENST00000327035.6_Missense_Mutation_p.K34E|AHI1_ENST00000488690.2_Missense_Mutation_p.K34E|AHI1_ENST00000528103.1_Missense_Mutation_p.K34E	p.K34E	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	3	316	-	Breast(56;0.239)|Colorectal(23;0.24)		34					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.100A>G	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246561	0.22796	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469;ENST00000488690;ENST00000367798;ENST00000528103;ENST00000534469	T;T;T;T;T	0.55588	1.02;1.02;1.02;1.02;0.51	4.97	3.77	0.43336	.	0.501889	0.17870	N	0.159216	T	0.33556	0.0867	L	0.54323	1.7	0.30008	N	0.815405	P;P	0.49961	0.93;0.884	P;B	0.45276	0.475;0.283	T	0.16778	-1.0391	10	0.66056	D	0.02	-5.9354	8.6188	0.33849	0.0:0.0:0.1943:0.8057	.	34;34	Q8N157-2;Q8N157	.;AHI1_HUMAN	E	34	ENSP00000356774:K34E;ENSP00000388650:K34E;ENSP00000265602:K34E;ENSP00000322478:K34E;ENSP00000433063:K34E	ENSP00000265602:K34E	K	-	1	0	AHI1	135853489	0.980000	0.34600	0.983000	0.44433	0.214000	0.24535	1.950000	0.40323	0.710000	0.31997	0.455000	0.32223	AAG		0.348	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		39	96	0	0	0	1	0	39	96				
ATP6V0D2	245972	broad.mit.edu	37	8	87165043	87165043	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:87165043A>G	ENST00000285393.3	+	8	1033		c.e8-1		CTD-3118D11.2_ENST00000522679.1_RNA|CTD-3118D11.2_ENST00000524253.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TTCTTTCCTCAGGTACAAATG	0.358																																						ENST00000285393.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.e8-1		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2							146.0	136.0	139.0					8																	87165043		2203	4300	6503	SO:0001630	splice_region_variant	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87165043A>G	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.892-1A>G	8.37:g.87165043A>G						CTD-3118D11.2_ENST00000522679.1_RNA		NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN			8	1033	+									Splice_Site	SNP	ENST00000285393.3	37		CCDS6241.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336399	0.60963	.	.	ENSG00000147614	ENST00000285393	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8056	0.78506	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6V0D2	87234159	1.000000	0.71417	0.999000	0.59377	0.635000	0.38103	9.248000	0.95456	2.323000	0.78572	0.528000	0.53228	.		0.358	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	Intron	106	68	0	0	0	1	0	106	68				
POMGNT2	84892	broad.mit.edu	37	3	43122426	43122426	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:43122426G>A	ENST00000344697.2	-	2	843	c.498C>T	c.(496-498)caC>caT	p.H166H	POMGNT2_ENST00000441964.1_Silent_p.H166H	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	166					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										CATGAAAGACGTGCATGAGGT	0.642																																						ENST00000344697.2																			0											c.(496-498)caC>caT									98.0	80.0	86.0					3																	43122426		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr3:43122426G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.498C>T	3.37:g.43122426G>A						GTDC2_ENST00000441964.1_Silent_p.H166H	p.H166H	NM_032806.4	NP_116195.2					2	843	-								B3KWC3|Q96SY3	Silent	SNP	ENST00000344697.2	37	c.498C>T	CCDS2709.1																																																																																				0.642	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		42	62	0	0	0	1	0	42	62				
PLEC	5339	broad.mit.edu	37	8	144997961	144997961	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144997961G>A	ENST00000322810.4	-	31	6716	c.6547C>T	c.(6547-6549)Cgg>Tgg	p.R2183W	PLEC_ENST00000398774.2_Missense_Mutation_p.R2014W|PLEC_ENST00000356346.3_Missense_Mutation_p.R2032W|PLEC_ENST00000436759.2_Missense_Mutation_p.R2073W|PLEC_ENST00000354589.3_Missense_Mutation_p.R2046W|PLEC_ENST00000527096.1_Missense_Mutation_p.R2069W|PLEC_ENST00000357649.2_Missense_Mutation_p.R2050W|PLEC_ENST00000345136.3_Missense_Mutation_p.R2046W|PLEC_ENST00000354958.2_Missense_Mutation_p.R2024W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2183	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGCAGCCGCTTCTGGGCG	0.701																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(6547-6549)Cgg>Tgg		plectin							4.0	5.0	4.0					8																	144997961		1774	3656	5430	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144997961G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6547C>T	8.37:g.144997961G>A	ENSP00000323856:p.Arg2183Trp					PLEC_ENST00000356346.3_Missense_Mutation_p.R2032W|PLEC_ENST00000354589.3_Missense_Mutation_p.R2046W|PLEC_ENST00000398774.2_Missense_Mutation_p.R2014W|PLEC_ENST00000436759.2_Missense_Mutation_p.R2073W|PLEC_ENST00000527096.1_Missense_Mutation_p.R2069W|PLEC_ENST00000357649.2_Missense_Mutation_p.R2050W|PLEC_ENST00000345136.3_Missense_Mutation_p.R2046W|PLEC_ENST00000354958.2_Missense_Mutation_p.R2024W	p.R2183W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	6716	-			2183			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6547C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833532	0.16820	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.80566	-1.36;-1.36;-1.37;-1.37;-1.38;-1.36;-1.33;-1.39;-1.33	4.31	4.31	0.51392	.	0.093595	0.45361	U	0.000362	T	0.79482	0.4453	N	0.22421	0.69	0.35419	D	0.793075	D;D;D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.997;0.998;0.998;0.998;0.998	P;P;P;P;P;P;P;P	0.59546	0.859;0.859;0.859;0.727;0.859;0.859;0.859;0.859	D	0.85048	0.0927	10	0.62326	D	0.03	.	11.9449	0.52922	0.0:0.0:0.8257:0.1742	.	2073;2032;2024;2183;2014;2046;2050;2046	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	W	2046;2050;2046;2014;2183;2024;2032;2073;2069	ENSP00000344848:R2046W;ENSP00000350277:R2050W;ENSP00000346602:R2046W;ENSP00000381756:R2014W;ENSP00000323856:R2183W;ENSP00000347044:R2024W;ENSP00000348702:R2032W;ENSP00000388180:R2073W;ENSP00000434583:R2069W	ENSP00000323856:R2183W	R	-	1	2	PLEC	145069949	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	1.811000	0.38942	2.112000	0.64535	0.448000	0.29417	CGG		0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	19	0	0	0	1	0	5	19				
LZTFL1	54585	broad.mit.edu	37	3	45879420	45879420	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:45879420T>C	ENST00000296135.6	-	2	301	c.127A>G	c.(127-129)Agg>Ggg	p.R43G	LZTFL1_ENST00000536047.1_Splice_Site_p.R26G|LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000539217.1_Intron	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	43					establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTCTGATACCTGCTCTCCTTG	0.438																																						ENST00000296135.6																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.e2+1		leucine zipper transcription factor-like 1							69.0	70.0	70.0					3																	45879420		2203	4300	6503	SO:0001630	splice_region_variant	54585							g.chr3:45879420T>C	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.128+1A>G	3.37:g.45879420T>C						LZTFL1_ENST00000536047.1_Splice_Site_p.R26_splice|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000490463.1_5'UTR	p.R43_splice	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	2	301	-			43					B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Splice_Site	SNP	ENST00000296135.6	37	c.128_splice	CCDS2731.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557791	0.86231	.	.	ENSG00000163818	ENST00000296135;ENST00000536047;ENST00000445698	T;T;T	0.31510	1.49;1.49;1.49	5.49	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	M	0.84433	2.695	0.80722	D	1	D	0.65815	0.995	D	0.66847	0.947	T	0.62959	-0.6743	10	0.72032	D	0.01	-21.1324	12.6047	0.56516	0.0:0.0:0.1387:0.8613	.	43	Q9NQ48	LZTL1_HUMAN	G	43;26;26	ENSP00000296135:R43G;ENSP00000439522:R26G;ENSP00000412240:R26G	ENSP00000296135:R43G	R	-	1	2	LZTFL1	45854424	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.482000	0.81143	0.885000	0.36088	0.533000	0.62120	AGG		0.438	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347	Missense_Mutation	37	45	0	0	0	1	0	37	45				
ADCY6	112	broad.mit.edu	37	12	49176478	49176478	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49176478T>C	ENST00000307885.4	-	1	1434	c.740A>G	c.(739-741)tAc>tGc	p.Y247C	ADCY6_ENST00000357869.3_Missense_Mutation_p.Y247C|ADCY6_ENST00000550422.1_Missense_Mutation_p.Y247C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	247					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GTAGGCGATGTAGACAAAGAA	0.662																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(739-741)tAc>tGc		adenylate cyclase 6							27.0	31.0	30.0					12																	49176478		2202	4297	6499	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49176478T>C		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.740A>G	12.37:g.49176478T>C	ENSP00000311405:p.Tyr247Cys					ADCY6_ENST00000550422.1_Missense_Mutation_p.Y247C|ADCY6_ENST00000357869.3_Missense_Mutation_p.Y247C	p.Y247C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			1	1434	-			247					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.740A>G	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176016	0.78564	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.23552	1.9;1.9;1.9	5.19	5.19	0.71726	.	0.156254	0.43919	D	0.000502	T	0.53562	0.1804	M	0.83483	2.645	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.74023	0.978;0.982	T	0.60984	-0.7154	10	0.87932	D	0	.	14.0326	0.64624	0.0:0.0:0.0:1.0	.	247;247	O43306-2;O43306	.;ADCY6_HUMAN	C	247	ENSP00000350536:Y247C;ENSP00000446730:Y247C;ENSP00000311405:Y247C	ENSP00000311405:Y247C	Y	-	2	0	ADCY6	47462745	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.040000	0.89188	1.970000	0.57323	0.459000	0.35465	TAC		0.662	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		5	13	0	0	0	1	0	5	13				
UBE2G1	7326	broad.mit.edu	37	17	4200057	4200057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4200057G>A	ENST00000396981.2	-	3	367	c.202C>T	c.(202-204)Cga>Tga	p.R68*	UBE2G1_ENST00000572484.1_5'UTR	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	68					protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|ubiquitin-dependent protein catabolic process (GO:0006511)	extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.R68R(1)		large_intestine(2)|lung(4)|skin(1)	7						TTAGGAGGTCGGAGGGGATAA	0.353																																						ENST00000396981.2																			1	Substitution - coding silent(1)	p.R68R(1)	lung(1)	large_intestine(2)|lung(4)|skin(1)	7						c.(202-204)Cga>Tga		ubiquitin-conjugating enzyme E2G 1							177.0	190.0	186.0					17																	4200057		2203	4300	6503	SO:0001587	stop_gained	7326				protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr17:4200057G>A	BC026288	CCDS32532.1	17p13.2	2014-05-30	2011-05-19		ENSG00000132388	ENSG00000132388		"""Ubiquitin-conjugating enzymes E2"""	12482	protein-coding gene	gene with protein product		601569	"""ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7)"", ""ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans)"", ""ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast)"""	UBE2G		8893823	Standard	NM_003342		Approved	UBC7	uc002fxs.3	P62253	OTTHUMG00000177826	ENST00000396981.2:c.202C>T	17.37:g.4200057G>A	ENSP00000380178:p.Arg68*					UBE2G1_ENST00000572484.1_5'UTR	p.R68*	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN			3	367	-			68					B2R7P2|D3DTK0|Q99462	Nonsense_Mutation	SNP	ENST00000396981.2	37	c.202C>T	CCDS32532.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157271	0.78114	.	.	ENSG00000132388	ENST00000396981	.	.	.	5.42	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-6.7478	13.1327	0.59391	0.0:0.0:0.7848:0.2152	.	.	.	.	X	68	.	ENSP00000380178:R68X	R	-	1	2	UBE2G1	4146806	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.422000	0.59854	2.715000	0.92844	0.655000	0.94253	CGA		0.353	UBE2G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439099.1	NM_003342		101	170	0	0	0	1	0	101	170				
ABCA13	154664	broad.mit.edu	37	7	48284175	48284175	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:48284175T>C	ENST00000435803.1	+	11	1289	c.1265T>C	c.(1264-1266)tTa>tCa	p.L422S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	422					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCCTCAGATTACAGCATCTG	0.393																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(1264-1266)tTa>tCa		ATP-binding cassette, sub-family A (ABC1), member 13							39.0	38.0	39.0					7																	48284175		1809	4069	5878	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48284175T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1265T>C	7.37:g.48284175T>C	ENSP00000411096:p.Leu422Ser						p.L422S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			11	1289	+			422					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.1265T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.021254	0.35701	.	.	ENSG00000179869	ENST00000435803	D	0.89196	-2.48	5.05	3.9	0.45041	.	0.551442	0.15261	N	0.271763	D	0.86159	0.5866	L	0.27053	0.805	0.49299	D	0.999776	D	0.58620	0.983	P	0.53401	0.725	D	0.83699	0.0181	10	0.72032	D	0.01	.	7.4969	0.27494	0.0:0.0988:0.0:0.9012	.	422	Q86UQ4	ABCAD_HUMAN	S	422	ENSP00000411096:L422S	ENSP00000411096:L422S	L	+	2	0	ABCA13	48254721	0.403000	0.25319	0.254000	0.24359	0.758000	0.43043	1.517000	0.35867	0.771000	0.33359	0.528000	0.53228	TTA		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		12	23	0	0	0	1	0	12	23				
EDIL3	10085	broad.mit.edu	37	5	83239262	83239262	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:83239262C>A	ENST00000296591.5	-	11	1837	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	EDIL3_ENST00000380138.3_Silent_p.L463L	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	473	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGCAGCCCAGCAGCTCTGACC	0.483																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(1417-1419)ctG>ctT		EGF-like repeats and discoidin I-like domains 3							138.0	125.0	129.0					5																	83239262		2203	4300	6503	SO:0001819	synonymous_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83239262C>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1419G>T	5.37:g.83239262C>A						EDIL3_ENST00000380138.3_Silent_p.L463L	p.L473L	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	11	1837	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	473			F5/8 type C 2.		B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	c.1419G>T	CCDS4062.1																																																																																				0.483	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		25	50	1	0	4.4004e-07	1	4.57246e-07	25	50				
IFIT1	3434	broad.mit.edu	37	10	91163163	91163163	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:91163163G>A	ENST00000371804.3	+	2	1298	c.1131G>A	c.(1129-1131)atG>atA	p.M377I	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Missense_Mutation_p.M346I	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	377					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGAAACAATGCAAGACATAC	0.338																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(1036-1038)atG>atA		interferon-induced protein with tetratricopeptide repeats 1							43.0	44.0	43.0					10																	91163163		2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91163163G>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.1131G>A	10.37:g.91163163G>A	ENSP00000360869:p.Met377Ile					IFIT1_ENST00000371804.3_Missense_Mutation_p.M377I|LIPA_ENST00000371837.1_Intron	p.M346I	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	2325	+			377					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.1038G>A	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891148	0.52014	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.12879	2.64;2.64	5.62	2.7	0.31948	Tetratricopeptide-like helical (1);	2.105050	0.02994	N	0.147276	T	0.08268	0.0206	N	0.08118	0	0.20403	N	0.99991	B;B	0.17038	0.02;0.02	B;B	0.16289	0.015;0.015	T	0.28744	-1.0034	10	0.23302	T	0.38	.	6.7177	0.23312	0.3998:0.0:0.6002:0.0	.	377;377	Q5T7J1;P09914	.;IFIT1_HUMAN	I	377;346	ENSP00000360869:M377I;ENSP00000441968:M346I	ENSP00000360869:M377I	M	+	3	0	IFIT1	91153143	0.002000	0.14202	0.363000	0.25875	0.372000	0.29890	0.406000	0.21032	0.811000	0.34303	0.650000	0.86243	ATG		0.338	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		48	25	0	0	0	1	0	48	25				
CROT	54677	broad.mit.edu	37	7	86990793	86990793	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:86990793T>C	ENST00000331536.3	+	5	513	c.328T>C	c.(328-330)Ttt>Ctt	p.F110L	CROT_ENST00000442291.1_Missense_Mutation_p.F110L|CROT_ENST00000419147.2_Missense_Mutation_p.F138L	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	110					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGCAGCTCATTTTGAACACTA	0.418																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(328-330)Ttt>Ctt		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						116.0	106.0	109.0					7																	86990793		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86990793T>C		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.328T>C	7.37:g.86990793T>C	ENSP00000331981:p.Phe110Leu					CROT_ENST00000419147.2_Missense_Mutation_p.F138L|CROT_ENST00000442291.1_Missense_Mutation_p.F110L	p.F110L	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			5	513	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		110					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.328T>C	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	T	7.476	0.647729	0.14516	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.88586	-2.4;-2.4;-2.4	5.86	-0.692	0.11301	.	0.522401	0.22864	N	0.054703	T	0.68568	0.3015	N	0.05124	-0.11	0.21897	N	0.999484	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.55173	-0.8182	10	0.20046	T	0.44	-2.7819	2.7817	0.05362	0.2027:0.0874:0.1484:0.5615	.	138;110	E7EQF2;Q9UKG9	.;OCTC_HUMAN	L	138;110;110	ENSP00000413575:F138L;ENSP00000331981:F110L;ENSP00000411983:F110L	ENSP00000331981:F110L	F	+	1	0	CROT	86828729	0.437000	0.25593	0.009000	0.14445	0.992000	0.81027	0.171000	0.16685	-0.111000	0.12001	0.533000	0.62120	TTT		0.418	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		43	67	0	0	0	1	0	43	67				
KLHL25	64410	broad.mit.edu	37	15	86312497	86312497	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:86312497C>T	ENST00000337975.5	-	2	819	c.545G>A	c.(544-546)aGc>aAc	p.S182N	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Missense_Mutation_p.S182N|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	182	BACK.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAAGTCCTCGCTCTGCCTCAC	0.617																																						ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(544-546)aGc>aAc		kelch-like family member 25							80.0	60.0	67.0					15																	86312497		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86312497C>T		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.545G>A	15.37:g.86312497C>T	ENSP00000336800:p.Ser182Asn					KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.S182N	p.S182N	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	819	-			182					B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.545G>A	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	9.707	1.155916	0.21454	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.69926	-0.44;-0.44	5.03	5.03	0.67393	BTB/Kelch-associated (2);	0.229469	0.42964	D	0.000626	T	0.51890	0.1701	L	0.33189	0.99	0.37082	D	0.899048	B	0.02656	0.0	B	0.10450	0.005	T	0.50890	-0.8774	10	0.08179	T	0.78	.	13.15	0.59484	0.0:0.8396:0.1604:0.0	.	182	Q9H0H3	ENC2_HUMAN	N	182;151;182	ENSP00000336800:S182N;ENSP00000444739:S182N	ENSP00000336800:S182N	S	-	2	0	KLHL25	84113501	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.061000	0.57485	2.351000	0.79841	0.462000	0.41574	AGC		0.617	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		30	36	0	0	0	1	0	30	36				
MYF6	4618	broad.mit.edu	37	12	81102659	81102659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:81102659C>T	ENST00000228641.3	+	3	871	c.649C>T	c.(649-651)Cga>Tga	p.R217*		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	217					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAGTAGCCTTCGATGCCTTTC	0.527																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(649-651)Cga>Tga		myogenic factor 6 (herculin)							171.0	148.0	156.0					12																	81102659		2203	4300	6503	SO:0001587	stop_gained	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81102659C>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.649C>T	12.37:g.81102659C>T	ENSP00000228641:p.Arg217*						p.R217*	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			3	871	+			217					B2R898|Q53X80|Q6FHI9	Nonsense_Mutation	SNP	ENST00000228641.3	37	c.649C>T	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	C	37	6.437397	0.97568	.	.	ENSG00000111046	ENST00000228641	.	.	.	5.6	5.6	0.85130	.	0.191189	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-17.1862	17.393	0.87437	0.0:1.0:0.0:0.0	.	.	.	.	X	217	.	ENSP00000228641:R217X	R	+	1	2	MYF6	79626790	0.959000	0.32827	0.985000	0.45067	0.981000	0.71138	5.048000	0.64238	2.638000	0.89438	0.591000	0.81541	CGA		0.527	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		58	51	0	0	0	1	0	58	51				
TMEM143	55260	broad.mit.edu	37	19	48848477	48848477	+	Silent	SNP	C	C	T	rs200070999		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:48848477C>T	ENST00000293261.3	-	4	820	c.504G>A	c.(502-504)ccG>ccA	p.P168P	TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000541566.1_Silent_p.P58P|TMEM143_ENST00000435956.3_Silent_p.P133P|TMEM143_ENST00000377431.2_Intron	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	168					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CCTCAGACAGCGGGGAGAAGT	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13931	0.0		0.0	False		,,,				2504	0.0					ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(502-504)ccG>ccA		transmembrane protein 143		C		0,4406		0,0,2203	94.0	91.0	92.0		504	-8.6	0.0	19		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM143	NM_018273.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/460	48848477	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55260					integral to membrane|mitochondrion		g.chr19:48848477C>T	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.504G>A	19.37:g.48848477C>T						TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Silent_p.P133P|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000541566.1_Silent_p.P58P	p.P168P	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	4	820	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	168					A8K656|Q6UXY4|Q9NV49	Silent	SNP	ENST00000293261.3	37	c.504G>A	CCDS12716.1																																																																																				0.622	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		67	96	0	0	0	1	0	67	96				
PIF1	80119	broad.mit.edu	37	15	65110488	65110488	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:65110488C>A	ENST00000268043.4	-	10	1590	c.1496G>T	c.(1495-1497)gGg>gTg	p.G499V	PIF1_ENST00000333425.6_Missense_Mutation_p.G499V|PIF1_ENST00000559239.1_Missense_Mutation_p.G499V					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						AACTACCACCCCTCGGGCACC	0.612																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(1495-1497)gGg>gTg		PIF1 5'-to-3' DNA helicase							150.0	117.0	128.0					15																	65110488		2202	4299	6501	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65110488C>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1496G>T	15.37:g.65110488C>A	ENSP00000268043:p.Gly499Val					PIF1_ENST00000559239.1_Missense_Mutation_p.G499V|PIF1_ENST00000333425.6_Missense_Mutation_p.G499V	p.G499V			Q9H611	PIF1_HUMAN			10	1590	-			499			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.1496G>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754963	0.89843	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.75938	-0.98;-0.98	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93775	0.7078	10	0.87932	D	0	-31.6424	16.7182	0.85402	0.0:1.0:0.0:0.0	.	499	Q9H611	PIF1_HUMAN	V	499	ENSP00000268043:G499V;ENSP00000328174:G499V	ENSP00000268043:G499V	G	-	2	0	PIF1	62897541	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.312000	0.78968	2.539000	0.85634	0.561000	0.74099	GGG		0.612	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		24	49	1	0	1.77063e-15	1	1.91002e-15	24	49				
KDM4B	23030	broad.mit.edu	37	19	5131092	5131092	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:5131092G>A	ENST00000159111.4	+	12	1539	c.1321G>A	c.(1321-1323)Ggg>Agg	p.G441R	KDM4B_ENST00000536461.1_Missense_Mutation_p.G475R	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	441					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CACAGAGGACGGGAGGGGCAA	0.652																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1321-1323)Ggg>Agg		lysine (K)-specific demethylase 4B							16.0	20.0	19.0					19																	5131092		2172	4284	6456	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5131092G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1321G>A	19.37:g.5131092G>A	ENSP00000159111:p.Gly441Arg					KDM4B_ENST00000536461.1_Missense_Mutation_p.G475R	p.G441R	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			12	1539	+			441					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.1321G>A	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290079	0.23478	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.18657	2.2;2.24	4.09	1.95	0.26073	.	1.406310	0.04489	N	0.379144	T	0.18800	0.0451	L	0.54323	1.7	0.09310	N	1	B;B	0.21381	0.055;0.033	B;B	0.16722	0.016;0.007	T	0.29119	-1.0022	10	0.16420	T	0.52	-24.7636	2.9343	0.05809	0.3287:0.0:0.4748:0.1965	.	475;441	F5GX28;O94953	.;KDM4B_HUMAN	R	441;475	ENSP00000159111:G441R;ENSP00000440495:G475R	ENSP00000159111:G441R	G	+	1	0	KDM4B	5082092	0.080000	0.21391	0.287000	0.24848	0.638000	0.38207	0.094000	0.15107	0.389000	0.25086	0.561000	0.74099	GGG		0.652	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		6	8	0	0	0	1	0	6	8				
OLFM2	93145	broad.mit.edu	37	19	9964925	9964925	+	Silent	SNP	G	G	A	rs139281596		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:9964925G>A	ENST00000264833.4	-	6	1487	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	AC008752.3_ENST00000582439.1_RNA|OLFM2_ENST00000590841.1_Silent_p.N356N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	434	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCTGGTGGCCGTTGTTCCAGG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		16058	0.0		0.001	False		,,,				2504	0.0					ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1300-1302)aaC>aaT		olfactomedin 2		G		1,4405	2.1+/-5.4	0,1,2202	94.0	82.0	86.0		1302	-2.2	1.0	19	dbSNP_134	86	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	OLFM2	NM_058164.2		0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846		434/455	9964925	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9964925G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1302C>T	19.37:g.9964925G>A						OLFM2_ENST00000590841.1_Silent_p.N356N	p.N434N	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	1487	-			434			Olfactomedin-like.		Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.1302C>T	CCDS12221.1																																																																																				0.602	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			52	61	0	0	0	1	0	52	61				
EVA1B	55194	broad.mit.edu	37	1	36788049	36788049	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:36788049C>A	ENST00000270824.1	-	3	636	c.345G>T	c.(343-345)tcG>tcT	p.S115S	RP11-268J15.5_ENST00000373137.2_5'Flank|EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	115						integral component of membrane (GO:0016021)											GCTCCTCCGCCGACGTGAAGA	0.731																																						ENST00000270824.1																			0											c.(343-345)tcG>tcT		eva-1 homolog B (C. elegans)							14.0	17.0	16.0					1																	36788049		2130	4179	6309	SO:0001819	synonymous_variant	55194							g.chr1:36788049C>A	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 78"", ""family with sequence similarity 176, member B"""	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.345G>T	1.37:g.36788049C>A						EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	p.S115S	NM_018166.1	NP_060636.1					3	636	-								D3DPS7	Silent	SNP	ENST00000270824.1	37	c.345G>T	CCDS406.1																																																																																				0.731	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021689.1	NM_018166		21	25	1	0	2.41591e-17	1	2.61575e-17	21	25				
DGKI	9162	broad.mit.edu	37	7	137339501	137339501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:137339501C>A	ENST00000288490.5	-	5	715	c.715G>T	c.(715-717)Gga>Tga	p.G239*	DGKI_ENST00000424189.2_Nonsense_Mutation_p.G239*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.G239*|DGKI_ENST00000453654.2_De_novo_Start_OutOfFrame	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	239					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTTGAGCCTCCTTCTCGAAAT	0.338																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84								diacylglycerol kinase, iota							114.0	103.0	106.0					7																	137339501		2203	4300	6503	SO:0001587	stop_gained	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137339501C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.715G>T	7.37:g.137339501C>A	ENSP00000288490:p.Gly239*					DGKI_ENST00000424189.2_Nonsense_Mutation_p.G239*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.G239*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.G239*				O75912	DGKI_HUMAN			0	354	-								A4D1Q9|Q9NZ49	Translation_Start_Site	SNP	ENST00000288490.5	37		CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	40	7.986694	0.98596	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	17.0943	0.86630	0.0:1.0:0.0:0.0	.	.	.	.	X	187;239;239;239	.	ENSP00000288490:G239X	G	-	1	0	DGKI	136990041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.446000	0.44908	2.771000	0.95319	0.561000	0.74099	GGA		0.338	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		21	36	1	0	1.66031e-10	1	1.76069e-10	21	36				
RIMBP2	23504	broad.mit.edu	37	12	130926863	130926863	+	Missense_Mutation	SNP	G	G	A	rs370841973		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:130926863G>A	ENST00000261655.4	-	8	1146	c.983C>T	c.(982-984)aCg>aTg	p.T328M	RIMBP2_ENST00000535703.1_Missense_Mutation_p.T236M|RIMBP2_ENST00000536002.1_Missense_Mutation_p.T236M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	328	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCTGCTCACCGTTCCCCATCC	0.562																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(982-984)aCg>aTg		RIMS binding protein 2			MET/THR	0,4406		0,0,2203	167.0	156.0	160.0		983	4.3	0.1	12		160	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIMBP2	NM_015347.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	328/1053	130926863	1,13005	2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130926863G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.983C>T	12.37:g.130926863G>A	ENSP00000261655:p.Thr328Met					RIMBP2_ENST00000536002.1_Missense_Mutation_p.T236M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T236M	p.T328M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1146	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	328			Fibronectin type-III 1.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.983C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	g	14.33	2.503611	0.44558	0.0	1.16E-4	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.54279	0.58;0.58;0.58	4.27	4.27	0.50696	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.263145	0.38436	N	0.001684	T	0.67951	0.2948	M	0.65975	2.015	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.884;0.996	T	0.59386	-0.7464	10	0.48119	T	0.1	-18.3797	11.892	0.52635	0.0:0.0:0.8255:0.1745	.	236;328	O15034-2;O15034	.;RIMB2_HUMAN	M	328;236;236;236	ENSP00000261655:T328M;ENSP00000440347:T236M;ENSP00000439159:T236M	ENSP00000261655:T328M	T	-	2	0	RIMBP2	129492816	0.975000	0.34042	0.075000	0.20258	0.716000	0.41182	5.691000	0.68249	1.907000	0.55213	0.431000	0.28591	ACG		0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		54	67	0	0	0	1	0	54	67				
CLGN	1047	broad.mit.edu	37	4	141334145	141334145	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:141334145C>A	ENST00000325617.5	-	2	528	c.88G>T	c.(88-90)Gac>Tac	p.D30Y	CLGN_ENST00000414773.1_Missense_Mutation_p.D30Y|CLGN_ENST00000537281.1_Missense_Mutation_p.D30Y	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	30					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.D30N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCTTCAAAGTCTTCCGTCTCA	0.328																																						ENST00000325617.5																			1	Substitution - Missense(1)	p.D30N(1)	lung(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(88-90)Gac>Tac		calmegin							96.0	90.0	92.0					4																	141334145		2203	4299	6502	SO:0001583	missense	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141334145C>A	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.88G>T	4.37:g.141334145C>A	ENSP00000326699:p.Asp30Tyr					CLGN_ENST00000414773.1_Missense_Mutation_p.D30Y|CLGN_ENST00000537281.1_Missense_Mutation_p.D30Y	p.D30Y	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			2	528	-	all_hematologic(180;0.162)		30					B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	c.88G>T	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258090	0.39896	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000509477	T;T;T;T	0.79141	0.25;0.25;0.25;-1.24	5.3	4.46	0.54185	.	0.148142	0.64402	D	0.000012	D	0.84183	0.5416	M	0.75264	2.295	0.58432	D	0.999999	D	0.67145	0.996	P	0.61201	0.885	D	0.85059	0.0933	10	0.72032	D	0.01	-14.0116	9.0223	0.36206	0.0:0.7708:0.1499:0.0793	.	30	O14967	CLGN_HUMAN	Y	30	ENSP00000326699:D30Y;ENSP00000392782:D30Y;ENSP00000439381:D30Y;ENSP00000424593:D30Y	ENSP00000326699:D30Y	D	-	1	0	CLGN	141553595	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	1.268000	0.33062	1.384000	0.46424	-0.196000	0.12772	GAC		0.328	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		11	31	1	0	1.58986e-06	1	1.64812e-06	11	31				
ZCWPW1	55063	broad.mit.edu	37	7	99998670	99998670	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:99998670G>A	ENST00000398027.2	-	18	2161	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G	ZCWPW1_ENST00000490721.1_Silent_p.G467G|ZCWPW1_ENST00000324725.6_Silent_p.G467G|ZCWPW1_ENST00000360951.4_3'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	638							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAAGTCCTCGCCATCACTGT	0.597																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1912-1914)ggC>ggT		zinc finger, CW type with PWWP domain 1							46.0	51.0	49.0					7																	99998670		2084	4206	6290	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:99998670G>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1914C>T	7.37:g.99998670G>A						ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000490721.1_Silent_p.G467G|ZCWPW1_ENST00000324725.6_Silent_p.G467G	p.G638G	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			18	2161	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		638					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.1914C>T	CCDS43623.1																																																																																				0.597	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		15	31	0	0	0	1	0	15	31				
C7	730	broad.mit.edu	37	5	40964971	40964971	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:40964971T>A	ENST00000313164.9	+	14	2237	c.1878T>A	c.(1876-1878)tgT>tgA	p.C626*		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	626	CCP 2.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				AAATGCATTGTCAGAGTGAGT	0.398																																						ENST00000313164.9																			0											c.(1876-1878)tgT>tgA		complement component 7							149.0	148.0	148.0					5																	40964971		1986	4162	6148	SO:0001587	stop_gained	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40964971T>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1878T>A	5.37:g.40964971T>A	ENSP00000322061:p.Cys626*						p.C626*	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			14	2237	+		Ovarian(839;0.0112)	626			Sushi 1.		Q6P3T5|Q92489	Nonsense_Mutation	SNP	ENST00000313164.9	37	c.1878T>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	T	43	10.502791	0.99417	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	.	.	.	6.04	3.71	0.42584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.2285	4.5287	0.11994	0.0:0.4301:0.0:0.5699	.	.	.	.	X	626;466	.	ENSP00000322061:C626X	C	+	3	2	C7	41000728	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.296000	0.51802	1.115000	0.41800	0.460000	0.39030	TGT		0.398	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			59	98	0	0	0	1	0	59	98				
FLT3LG	2323	broad.mit.edu	37	19	49982287	49982287	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49982287A>T	ENST00000594009.1	+	5	543	c.464A>T	c.(463-465)gAg>gTg	p.E155V	FLT3LG_ENST00000596435.1_Missense_Mutation_p.E137V|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000597551.1_Missense_Mutation_p.E155V|FLT3LG_ENST00000595510.1_Missense_Mutation_p.E73V|FLT3LG_ENST00000344019.3_Missense_Mutation_p.E155V|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_Missense_Mutation_p.E155V|FLT3LG_ENST00000204637.2_Missense_Mutation_p.E73V	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	155					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CGGTGCCTGGAGCTGCAGTGT	0.647																																						ENST00000595510.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(217-219)gAg>gTg		fms-related tyrosine kinase 3 ligand							20.0	20.0	20.0					19																	49982287		2203	4299	6502	SO:0001583	missense	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49982287A>T	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.464A>T	19.37:g.49982287A>T	ENSP00000469613:p.Glu155Val					CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_Missense_Mutation_p.E73V|FLT3LG_ENST00000600429.1_Missense_Mutation_p.E155V|FLT3LG_ENST00000344019.3_Missense_Mutation_p.E155V|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000596435.1_Missense_Mutation_p.E137V|FLT3LG_ENST00000597551.1_Missense_Mutation_p.E155V|FLT3LG_ENST00000594009.1_Missense_Mutation_p.E155V	p.E73V			P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	5	519	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	155					A0AVC2|B9EGH2|Q05C96	Missense_Mutation	SNP	ENST00000594009.1	37	c.218A>T	CCDS12767.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689284	0.48097	.	.	ENSG00000090554	ENST00000204637;ENST00000344019	.	.	.	4.5	3.46	0.39613	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.134846	0.47852	U	0.000209	T	0.45816	0.1361	L	0.29908	0.895	0.31704	N	0.640414	D	0.76494	0.999	D	0.68943	0.961	T	0.52102	-0.8620	9	0.72032	D	0.01	-11.0888	7.077	0.25209	0.8868:0.0:0.1132:0.0	.	155	P49771	FLT3L_HUMAN	V	155	.	ENSP00000204637:E155V	E	+	2	0	FLT3LG	54674099	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	2.824000	0.48088	1.777000	0.52277	0.147000	0.16070	GAG		0.647	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			8	11	0	0	0	1	0	8	11				
ITPR3	3710	broad.mit.edu	37	6	33630351	33630351	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:33630351C>T	ENST00000374316.5	+	9	1818	c.758C>T	c.(757-759)aCg>aTg	p.T253M	ITPR3_ENST00000605930.1_Missense_Mutation_p.T253M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	253	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	AAGTTCCTGACGTGTGACGAG	0.632																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(757-759)aCg>aTg		inositol 1,4,5-trisphosphate receptor, type 3							103.0	76.0	85.0					6																	33630351		2203	4299	6502	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33630351C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.758C>T	6.37:g.33630351C>T	ENSP00000363435:p.Thr253Met					ITPR3_ENST00000605930.1_Missense_Mutation_p.T253M	p.T253M			Q14573	ITPR3_HUMAN			9	1818	+			253			MIR 3.		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.758C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113224	0.77210	.	.	ENSG00000096433	ENST00000374316	D	0.90261	-2.64	5.61	5.61	0.85477	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96719	0.9531	10	0.87932	D	0	-24.0745	19.6298	0.95698	0.0:1.0:0.0:0.0	.	253	Q14573	ITPR3_HUMAN	M	253	ENSP00000363435:T253M	ENSP00000363435:T253M	T	+	2	0	ITPR3	33738329	1.000000	0.71417	0.968000	0.41197	0.213000	0.24496	7.811000	0.86092	2.647000	0.89833	0.313000	0.20887	ACG		0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		25	18	0	0	0	1	0	25	18				
PIP5K1B	8395	broad.mit.edu	37	9	71491650	71491650	+	Silent	SNP	C	C	T	rs143726902	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:71491650C>T	ENST00000265382.3	+	6	563	c.258C>T	c.(256-258)taC>taT	p.Y86Y	PIP5K1B_ENST00000541509.1_Silent_p.Y86Y	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	86	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TTAAGACATACGCTCCATTAG	0.373																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(256-258)taC>taT		phosphatidylinositol-4-phosphate 5-kinase, type I, beta		C		9,4397	15.5+/-35.6	0,9,2194	121.0	121.0	121.0		258	-0.7	1.0	9	dbSNP_134	121	0,8600		0,0,4300	no	coding-synonymous	PIP5K1B	NM_003558.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		86/541	71491650	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71491650C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.258C>T	9.37:g.71491650C>T						PIP5K1B_ENST00000541509.1_Silent_p.Y86Y	p.Y86Y	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	6	563	+			86			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Silent	SNP	ENST00000265382.3	37	c.258C>T	CCDS6624.1																																																																																				0.373	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		28	36	0	0	0	1	0	28	36				
RPL22	6146	broad.mit.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000497965.1_5'UTR|RPL22_ENST00000484532.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																	ENST00000234875.4				Dom	yes		1	1p36.31	6146	T	ribosomal protein L22 (EAP)			L	RUNX1		"""AML, CML"""		1	Deletion - Frameshift(1)	p.K15fs*5(1)	large_intestine(1)	kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(43-45)agfs		ribosomal protein L22							62.0	55.0	57.0					1																	6257785		2203	4300	6503	SO:0001589	frameshift_variant	6146				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	g.chr1:6257785delT	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs					RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	p.K16fs	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	2	82	-	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	16					B2R495|Q6IBD1	Frame_Shift_Del	DEL	ENST00000234875.4	37	c.44delA	CCDS58.1																																																																																				0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983		16	22						16	22	---	---	---	---
ERRFI1	54206	broad.mit.edu	37	1	8074168	8074169	+	Frame_Shift_Del	DEL	AG	AG	-	rs535537176		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:8074168_8074169delAG	ENST00000377482.5	-	4	713_714	c.490_491delCT	c.(490-492)ctgfs	p.L164fs	ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	164					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TGTGTCATCCAGAGAGAGGGCT	0.475																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(490-492)gfs		ERBB receptor feedback inhibitor 1																																				SO:0001589	frameshift_variant	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8074168_8074169delAG	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.490_491delCT	1.37:g.8074174_8074175delAG	ENSP00000366702:p.Leu164fs					ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	p.L164fs	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	713_714	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	164					B2RDX9|Q9NTG9|Q9UD05	Frame_Shift_Del	DEL	ENST00000377482.5	37	c.490_491delCT	CCDS94.1																																																																																				0.475	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		53	70						53	70	---	---	---	---
SPSB1	80176	broad.mit.edu	37	1	9416315	9416315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:9416315delC	ENST00000328089.6	+	2	706	c.365delC	c.(364-366)gccfs	p.A122fs	SPSB1_ENST00000357898.3_Frame_Shift_Del_p.A122fs|SPSB1_ENST00000377399.2_Frame_Shift_Del_p.A122fs	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	122	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		ACGGCAGACGCCCCCCTGCAC	0.657																																						ENST00000328089.6																			0				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13						c.(364-366)gcfs		splA/ryanodine receptor domain and SOCS box containing 1							44.0	47.0	46.0					1																	9416315		2203	4300	6503	SO:0001589	frameshift_variant	80176				intracellular signal transduction	cytoplasm		g.chr1:9416315delC		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.365delC	1.37:g.9416315delC	ENSP00000330221:p.Ala122fs					SPSB1_ENST00000377399.2_Frame_Shift_Del_p.A122fs|SPSB1_ENST00000357898.3_Frame_Shift_Del_p.A122fs	p.A122fs	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	706	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	122			B30.2/SPRY.		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Frame_Shift_Del	DEL	ENST00000328089.6	37	c.365delC	CCDS102.1																																																																																				0.657	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		40	63						40	63	---	---	---	---
DNAJC16	23341	broad.mit.edu	37	1	15873320	15873321	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:15873320_15873321delAT	ENST00000375847.3	+	6	982_983	c.818_819delAT	c.(817-819)catfs	p.H273fs	DNAJC16_ENST00000375838.1_Frame_Shift_Del_p.H273fs|DNAJC16_ENST00000375849.1_Frame_Shift_Del_p.H273fs	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	273					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AATAAGCCTCATGTCCTTCTGT	0.327																																						ENST00000375847.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(817-819)cfs		DnaJ (Hsp40) homolog, subfamily C, member 16																																				SO:0001589	frameshift_variant	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15873320_15873321delAT	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.818_819delAT	1.37:g.15873320_15873321delAT	ENSP00000365007:p.His273fs					DNAJC16_ENST00000375838.1_Frame_Shift_Del_p.H273fs|DNAJC16_ENST00000375849.1_Frame_Shift_Del_p.H273fs	p.H273fs	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	6	982_983	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	273					Q68D57|Q86X32|Q8N5P4	Frame_Shift_Del	DEL	ENST00000375847.3	37	c.818_819delAT	CCDS30606.1																																																																																				0.327	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		43	83						43	83	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43909340	43909340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:43909340delC	ENST00000562955.1	+	61	8527	c.8527delC	c.(8527-8529)cccfs	p.P2844fs	SZT2_ENST00000372442.1_Frame_Shift_Del_p.P2002fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2901					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGATGTGTCGCCCCCGGGAGC	0.577																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8527-8529)ccfs		seizure threshold 2 homolog (mouse)							109.0	112.0	111.0					1																	43909340		2203	4300	6503	SO:0001589	frameshift_variant	23334					peroxisome		g.chr1:43909340delC	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8527delC	1.37:g.43909340delC	ENSP00000457168:p.Pro2844fs					SZT2_ENST00000372442.1_Frame_Shift_Del_p.P2002fs	p.P2844fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			61	8527	+			2901					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	ENST00000562955.1	37	c.8527delC	CCDS30694.2																																																																																				0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		60	115						60	115	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47365870	47365870	+	RNA	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:47365870delT	ENST00000505841.1	-	0	180					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										atatgtgctgttttttttaAT	0.398																																						ENST00000505841.1																			0																																																			0							g.chr1:47365870delT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47365870delT								NR_002788.2						0	180	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.398	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		11	15						11	15	---	---	---	---
C8A	731	broad.mit.edu	37	1	57373743	57373743	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:57373743delG	ENST00000361249.3	+	9	1433	c.1337delG	c.(1336-1338)tggfs	p.W446fs		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	446	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TACCGTTCCTGGGGGAGGTCA	0.483																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1336-1338)tgfs		complement component 8, alpha polypeptide							161.0	162.0	162.0					1																	57373743		2203	4300	6503	SO:0001589	frameshift_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57373743delG	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1337delG	1.37:g.57373743delG	ENSP00000354458:p.Trp446fs						p.W446fs	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			9	1433	+			446			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Frame_Shift_Del	DEL	ENST00000361249.3	37	c.1337delG	CCDS606.1																																																																																				0.483	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		41	43						41	43	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57537235	57537235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:57537235delT	ENST00000371231.1	-	5	552	c.518delA	c.(517-519)aagfs	p.K173fs	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371236.2_Frame_Shift_Del_p.K173fs			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	173	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTTGTGCCTTTTTTTCTAA	0.393																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(517-519)agfs		Dab, reelin signal transducer, homolog 1 (Drosophila)							225.0	198.0	207.0					1																	57537235		2203	4300	6503	SO:0001589	frameshift_variant	1600				cell differentiation|nervous system development			g.chr1:57537235delT	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.518delA	1.37:g.57537235delT	ENSP00000360275:p.Lys173fs					DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371231.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR	p.K173fs			O75553	DAB1_HUMAN			6	781	-			173			PID.		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Frame_Shift_Del	DEL	ENST00000371231.1	37	c.518delA																																																																																					0.393	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		18	44						18	44	---	---	---	---
NEXN	91624	broad.mit.edu	37	1	78408251	78408251	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:78408251delA	ENST00000334785.7	+	13	1949	c.1765delA	c.(1765-1767)aaafs	p.K589fs	NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000330010.8_Frame_Shift_Del_p.K525fs|FUBP1_ENST00000489495.1_5'Flank|NEXN_ENST00000457030.1_Frame_Shift_Del_p.K575fs	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGCCTCTTAAAAACACATC	0.438																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1573-1575)aafs		nexilin (F actin binding protein)							100.0	98.0	99.0					1																	78408251		1893	4103	5996	SO:0001589	frameshift_variant	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78408251delA	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1765delA	1.37:g.78408251delA	ENSP00000333938:p.Lys589fs					NEXN_ENST00000457030.1_Frame_Shift_Del_p.K575fs|NEXN_ENST00000334785.7_Frame_Shift_Del_p.K589fs|NEXN_ENST00000480732.1_3'UTR	p.K525fs	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	12	1870	+			589			Glu-rich.			Frame_Shift_Del	DEL	ENST00000334785.7	37	c.1573delA	CCDS41351.1																																																																																				0.438	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		33	57						33	57	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91845795	91845796	+	Splice_Site	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:91845795_91845796insA	ENST00000370425.3	-	8	972		c.e8-2		HFM1_ENST00000294696.5_Splice_Site|HFM1_ENST00000370424.3_Splice_Site	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)						resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTAAAGAAGCTAAAAAATAAAA	0.282																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.e8-2		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)																																				SO:0001630	splice_region_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91845795_91845796insA	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.874-2->T	1.37:g.91845801_91845801dupA						HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Splice_Site		NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	8	972	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)						B1B0B6|Q8N9Q0	Splice_Site	INS	ENST00000370425.3	37		CCDS30769.2																																																																																				0.282	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Intron	22	49						22	49	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116648	121116648	+	lincRNA	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:121116648delA	ENST00000437515.1	-	0	329					NR_104189.1																						GCCCCCCTTTAAAAAAAAAGG	0.398																																						ENST00000437515.1																			0																																																			0							g.chr1:121116648delA																													1.37:g.121116648delA														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.398	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			7	55						7	55	---	---	---	---
PI4KB	5298	broad.mit.edu	37	1	151265430	151265432	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:151265430_151265432delCTC	ENST00000368873.1	-	12	2515_2517	c.2347_2349delGAG	c.(2347-2349)gagdel	p.E783del	PI4KB_ENST00000368875.2_In_Frame_Del_p.E795del|PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del|PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	783					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCAGCTGCTCCTCAGTCATG	0.542																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2383-2385)del		phosphatidylinositol 4-kinase, catalytic, beta																																				SO:0001651	inframe_deletion	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151265430_151265432delCTC	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2347_2349delGAG	1.37:g.151265433_151265435delCTC	ENSP00000357867:p.Glu783del					PI4KB_ENST00000368873.1_In_Frame_Del_p.E783del|PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del|PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del	p.E795del	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		13	2963_2965	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		783					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	In_Frame_Del	DEL	ENST00000368873.1	37	c.2383_2385delGAG																																																																																					0.542	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		38	55						38	55	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2734-2736)del		trichohyalin																																				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082957_152082959delCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2734_2736delGAG	1.37:g.152082966_152082968delCTC	ENSP00000357794:p.Glu912del						p.E912del	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2733_2735	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		912			10 X 30 AA tandem repeats.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.2734_2736delGAG	CCDS41396.1																																																																																				0.586	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	286						7	286	---	---	---	---
CRTC2	200186	broad.mit.edu	37	1	153923897	153923898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:153923897_153923898insG	ENST00000368633.1	-	11	1369_1370	c.1242_1243insC	c.(1240-1245)ccctctfs	p.S415fs	CRTC2_ENST00000368630.3_Frame_Shift_Ins_p.S95fs|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	415					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGGGTAAGAGGGGGCGCCCA	0.673																																						ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1240-1245)cccttafs		CREB regulated transcription coactivator 2																																				SO:0001589	frameshift_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153923897_153923898insG	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1243dupC	1.37:g.153923902_153923902dupG	ENSP00000357622:p.Ser415fs					CRTC2_ENST00000368630.3_Frame_Shift_Ins_p.PL94fs	p.PL414fs	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	1369_1370	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		414					Q6UUV8|Q7Z3X7|Q8N332	Frame_Shift_Ins	INS	ENST00000368633.1	37	c.1242_1243insC	CCDS30875.1																																																																																				0.673	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		10	18						10	18	---	---	---	---
NES	10763	broad.mit.edu	37	1	156642804	156642804	+	Frame_Shift_Del	DEL	G	G	-	rs372020167		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:156642804delG	ENST00000368223.3	-	4	1308	c.1176delC	c.(1174-1176)cccfs	p.P392fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	392	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGAGGTGTGGGGGGGATGG	0.597																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1174-1176)ccfs		nestin							74.0	93.0	86.0					1																	156642804		2203	4299	6502	SO:0001589	frameshift_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642804delG	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1176delC	1.37:g.156642804delG	ENSP00000357206:p.Pro392fs						p.P392fs	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1308	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		392			Tail.		O00552|Q3LIF5|Q5SYZ6	Frame_Shift_Del	DEL	ENST00000368223.3	37	c.1176delC	CCDS1151.1																																																																																				0.597	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		126	205						126	205	---	---	---	---
ARV1	64801	broad.mit.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:231131567delA	ENST00000310256.2	+	4	567	c.510delA	c.(508-510)gcafs	p.A170fs	ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383																																						ENST00000310256.2																			0				breast(3)|large_intestine(2)|lung(2)	7						c.(508-510)gcfs		ARV1 homolog (S. cerevisiae)							81.0	79.0	80.0					1																	231131567		2203	4300	6503	SO:0001589	frameshift_variant	64801				sphingolipid metabolic process	integral to membrane		g.chr1:231131567delA	AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.510delA	1.37:g.231131567delA	ENSP00000312458:p.Ala170fs					ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs|ARV1_ENST00000497753.1_3'UTR	p.A170fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)	4	567	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	170					A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Frame_Shift_Del	DEL	ENST00000310256.2	37	c.510delA	CCDS1589.1																																																																																				0.383	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786		33	43						33	43	---	---	---	---
ROCK2	9475	broad.mit.edu	37	2	11332603	11332603	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:11332603delT	ENST00000315872.6	-	31	4371	c.3923delA	c.(3922-3924)aagfs	p.K1308fs	ROCK2_ENST00000401753.1_Frame_Shift_Del_p.K1065fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1308	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AATCTCCTCCTTTTTGTCCAT	0.388																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(3922-3924)agfs		Rho-associated, coiled-coil containing protein kinase 2							103.0	96.0	98.0					2																	11332603		1866	4097	5963	SO:0001589	frameshift_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11332603delT	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3923delA	2.37:g.11332603delT	ENSP00000317985:p.Lys1308fs					ROCK2_ENST00000401753.1_Frame_Shift_Del_p.K1065fs	p.K1308fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	31	4371	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1308			PH.		Q53QZ0|Q53SJ7|Q9UQN5	Frame_Shift_Del	DEL	ENST00000315872.6	37	c.3923delA	CCDS42654.1																																																																																				0.388	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			34	64						34	64	---	---	---	---
RAD51AP2	729475	broad.mit.edu	37	2	17698825	17698825	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:17698825delT	ENST00000399080.2	-	1	881	c.858delA	c.(856-858)aaafs	p.K286fs		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	286										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATATGCCTCTTTTTTGTCAT	0.353																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(856-858)aafs		RAD51 associated protein 2							187.0	167.0	173.0					2																	17698825		1818	4075	5893	SO:0001589	frameshift_variant	729475							g.chr2:17698825delT	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.858delA	2.37:g.17698825delT	ENSP00000382030:p.Lys286fs						p.K286fs	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	881	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		286						Frame_Shift_Del	DEL	ENST00000399080.2	37	c.858delA	CCDS42656.1																																																																																				0.353	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		17	31						17	31	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452260	43452260	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:43452260delC	ENST00000282388.3	-	2	976	c.683delG	c.(682-684)ggcfs	p.G228fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	228					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCCGGAggcgccccccgacgg	0.706																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(682-684)gcfs		ZFP36 ring finger protein-like 2							7.0	9.0	8.0					2																	43452260		2058	4125	6183	SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452260delC	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.683delG	2.37:g.43452260delC	ENSP00000282388:p.Gly228fs					THADA_ENST00000330266.7_Intron	p.G228fs	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	976	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	228					Q53TB4|Q9BSJ3	Frame_Shift_Del	DEL	ENST00000282388.3	37	c.683delG	CCDS1811.1																																																																																				0.706	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		16	31						16	31	---	---	---	---
ASPRV1	151516	broad.mit.edu	37	2	70188284	70188284	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70188284delG	ENST00000320256.4	-	1	1113	c.537delC	c.(535-537)cccfs	p.P179fs	PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1									p.P179P(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GCAGGTGGCTGGGGGCAGCCC	0.587																																						ENST00000320256.4																			1	Substitution - coding silent(1)	p.P179P(1)	lung(1)	endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(535-537)ccfs		aspartic peptidase, retroviral-like 1							45.0	50.0	48.0					2																	70188284		2203	4300	6503	SO:0001589	frameshift_variant	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188284delG	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.537delC	2.37:g.70188284delG	ENSP00000315383:p.Pro179fs						p.P179fs	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1113	-			179						Frame_Shift_Del	DEL	ENST00000320256.4	37	c.537delC	CCDS1897.1																																																																																				0.587	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		51	48						51	48	---	---	---	---
C2orf42	54980	broad.mit.edu	37	2	70392681	70392682	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70392681_70392682insT	ENST00000264434.2	-	7	1609_1610	c.1230_1231insA	c.(1228-1233)aaacggfs	p.R411fs	C2orf42_ENST00000420306.1_Frame_Shift_Ins_p.R411fs	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	411										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TTGGGGAGCCGTTTTTTTGCAC	0.406																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1228-1233)aaggctfs		chromosome 2 open reading frame 42																																				SO:0001589	frameshift_variant	54980							g.chr2:70392681_70392682insT	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1231dupA	2.37:g.70392688_70392688dupT	ENSP00000264434:p.Arg411fs					C2orf42_ENST00000420306.1_Frame_Shift_Ins_p.A411fs	p.A411fs	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			7	1609_1610	-			411					D6W5G3|Q9H629	Frame_Shift_Ins	INS	ENST00000264434.2	37	c.1230_1231insA	CCDS1899.1																																																																																				0.406	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		29	57						29	57	---	---	---	---
FBXO41	150726	broad.mit.edu	37	2	73490910	73490910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:73490910delC	ENST00000521871.1	-	8	2386	c.1971delG	c.(1969-1971)gggfs	p.G657fs	FBXO41_ENST00000520530.2_Frame_Shift_Del_p.G657fs|FBXO41_ENST00000295133.5_Frame_Shift_Del_p.G718fs			Q8TF61	FBX41_HUMAN	F-box protein 41	657										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TCAGCAGGTTCCCCCCAGCTG	0.637																																						ENST00000521871.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(1969-1971)ggfs		F-box protein 41							73.0	89.0	84.0					2																	73490910		2096	4224	6320	SO:0001589	frameshift_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73490910delC	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1971delG	2.37:g.73490910delC	ENSP00000428646:p.Gly657fs					FBXO41_ENST00000295133.5_Frame_Shift_Del_p.G718fs|FBXO41_ENST00000520530.2_Frame_Shift_Del_p.G657fs	p.G657fs			Q8TF61	FBX41_HUMAN			8	2386	-			657					G3V0Z7|Q2M1V8	Frame_Shift_Del	DEL	ENST00000521871.1	37	c.1971delG	CCDS46337.2																																																																																				0.637	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			13	102						13	102	---	---	---	---
FER1L5	90342	broad.mit.edu	37	2	97363350	97363350	+	RNA	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:97363350delG	ENST00000457909.1	+	0	3637							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GCAGGGAGGTGGGGGGCTGCC	0.547																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							46.0	48.0	47.0					2																	97363350		2013	4174	6187			90342					integral to membrane		g.chr2:97363350delG	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97363350delG										A0AVI2	FR1L5_HUMAN			0	3637	+								Q17RH2|Q6ZU24	RNA	DEL	ENST00000457909.1	37																																																																																						0.547	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		16	20						16	20	---	---	---	---
SEPT10	151011	broad.mit.edu	37	2	110301827	110301828	+	3'UTR	INS	-	-	T	rs562796959|rs545969753	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:110301827_110301828insT	ENST00000397712.2	-	0	1801_1802				SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000468616.1_5'Flank|SEPT10_ENST00000437928.1_3'UTR|SEPT10_ENST00000356688.4_Frame_Shift_Ins_p.L503fs	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CACACTTCTAGTTTTTTTTTAA	0.317													TTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|insertion	16	0.00319489	0.0	0.0086	5008	,	,		16525	0.001		0.008	False		,,,				2504	0.001					ENST00000356688.4																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						c.(1504-1509)aatagafs		septin 10			,	5,3487		0,5,1741					,	-0.1	0.0			63	31,7779		0,31,3874	no	utr-3,utr-3	SEPT10	NM_178584.1,NM_144710.2	,	0,36,5615	A1A1,A1R,RR		0.3969,0.1432,0.3185	,	,		36,11266				SO:0001624	3_prime_UTR_variant	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110301827_110301828insT	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.*59->A	2.37:g.110301836_110301836dupT						SEPT10_ENST00000437928.1_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000397712.2_3'UTR	p.NR502fs			Q9P0V9	SEP10_HUMAN			12	1821_1822	-			0					B3KRQ9|Q86VP5|Q9HAH6	Frame_Shift_Ins	INS	ENST00000397712.2	37	c.1506_1507insA	CCDS46383.1																																																																																				0.317	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710		20	28						20	28	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133543031	133543031	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:133543031delG	ENST00000409261.1	-	14	1726	c.1353delC	c.(1351-1353)cccfs	p.P451fs	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P451fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	451								p.C452fs*21(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGTTTTGCAGGGGGGATACT	0.463																																						ENST00000409261.1																			1	Deletion - Frameshift(1)	p.C452fs*21(1)	large_intestine(1)	NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1351-1353)ccfs		NCK-associated protein 5							54.0	52.0	53.0					2																	133543031		1854	4097	5951	SO:0001589	frameshift_variant	344148						protein binding	g.chr2:133543031delG	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1353delC	2.37:g.133543031delG	ENSP00000387128:p.Pro451fs					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P451fs	p.P451fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	1726	-			451					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Del	DEL	ENST00000409261.1	37	c.1353delC	CCDS46418.1																																																																																				0.463	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		24	21						24	21	---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136409480	136409482	+	In_Frame_Del	DEL	CCT	CCT	-	rs139457585		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:136409480_136409482delCCT	ENST00000264160.4	+	17	2171_2173	c.1801_1803delCCT	c.(1801-1803)cctdel	p.P605del	R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	605	Poly-Pro.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		accaccaccacctcctcctcctc	0.586																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1801-1803)del		R3H domain containing 1																																				SO:0001651	inframe_deletion	23518						nucleic acid binding	g.chr2:136409480_136409482delCCT	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1801_1803delCCT	2.37:g.136409489_136409491delCCT	ENSP00000264160:p.Pro605del					R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del	p.P605del	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2171_2173	+			605			Poly-Pro.		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	In_Frame_Del	DEL	ENST00000264160.4	37	c.1801_1803delCCT	CCDS2177.1																																																																																				0.586	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		38	71						38	71	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141819647	141819648	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:141819647_141819648insT	ENST00000389484.3	-	8	2179_2180	c.1208_1209insA	c.(1207-1209)aatfs	p.N403fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	403					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTGTGTCTATTTTTTCCTTG	0.391										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1207-1209)aagfs		low density lipoprotein receptor-related protein 1B																																				SO:0001589	frameshift_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141819647_141819648insT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1209dupA	2.37:g.141819653_141819653dupT	ENSP00000374135:p.Asn403fs	TSP Lung(27;0.18)					p.K403fs	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	8	2179_2180	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	403					Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Ins	INS	ENST00000389484.3	37	c.1208_1209insA	CCDS2182.1																																																																																				0.391	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		35	78						35	78	---	---	---	---
GRB14	2888	broad.mit.edu	37	2	165350964	165350964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:165350964delT	ENST00000263915.3	-	13	1991	c.1453delA	c.(1453-1455)atafs	p.I485fs	GRB14_ENST00000543549.1_Frame_Shift_Del_p.I398fs|GRB14_ENST00000497306.1_Intron	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	485	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGTGCTTTATTTTTTGTCCA	0.333																																						ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1453-1455)tafs		growth factor receptor-bound protein 14							147.0	153.0	151.0					2																	165350964		2203	4300	6503	SO:0001589	frameshift_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165350964delT		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1453delA	2.37:g.165350964delT	ENSP00000263915:p.Ile485fs					GRB14_ENST00000543549.1_Frame_Shift_Del_p.I398fs|GRB14_ENST00000497306.1_Intron	p.I485fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			13	1991	-			485			SH2.		B7Z7F9|Q7Z6I1	Frame_Shift_Del	DEL	ENST00000263915.3	37	c.1453delA	CCDS2222.1																																																																																				0.333	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			26	48						26	48	---	---	---	---
DFNB59	494513	broad.mit.edu	37	2	179325760	179325760	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:179325760delT	ENST00000409117.3	+	7	1174	c.818delT	c.(817-819)cttfs	p.L273fs	DFNB59_ENST00000375129.4_Frame_Shift_Del_p.L273fs	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	273					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)		p.L273P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTGGATGATCTTTTTTCTGAC	0.348																																						ENST00000409117.3																			1	Substitution - Missense(1)	p.L273P(1)	kidney(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18						c.(817-819)ctfs		deafness, autosomal recessive 59							233.0	206.0	215.0					2																	179325760		1867	4107	5974	SO:0001589	frameshift_variant	494513				sensory perception of sound			g.chr2:179325760delT	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.818delT	2.37:g.179325760delT	ENSP00000386647:p.Leu273fs					DFNB59_ENST00000375129.4_Frame_Shift_Del_p.L273fs	p.L273fs	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		7	1174	+			273					A0PK14|B9EJE2	Frame_Shift_Del	DEL	ENST00000409117.3	37	c.818delT	CCDS42787.1																																																																																				0.348	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			20	153						20	153	---	---	---	---
CALCRL	10203	broad.mit.edu	37	2	188250275	188250275	+	Frame_Shift_Del	DEL	A	A	-	rs13391909	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:188250275delA	ENST00000409998.1	-	5	829	c.48delT	c.(46-48)tttfs	p.F16fs	CALCRL_ENST00000392370.3_Frame_Shift_Del_p.F16fs|CALCRL_ENST00000410068.1_Frame_Shift_Del_p.F16fs|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	16			F -> L (in dbSNP:rs13391909).		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGCTTACCATAAAAAAAGGCA	0.274																																						ENST00000409998.1																			0				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32						c.(46-48)ttfs		calcitonin receptor-like							30.0	33.0	32.0					2																	188250275		2196	4264	6460	SO:0001589	frameshift_variant	10203					integral to plasma membrane		g.chr2:188250275delA	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.48delT	2.37:g.188250275delA	ENSP00000386972:p.Phe16fs					CALCRL_ENST00000392370.3_Frame_Shift_Del_p.F16fs|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Frame_Shift_Del_p.F16fs	p.F16fs			Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		5	829	-			16		F -> L (in dbSNP:rs13391909).			A8K6G5|A8KAD3|Q53S02|Q53TS5	Frame_Shift_Del	DEL	ENST00000409998.1	37	c.48delT	CCDS2293.1																																																																																				0.274	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		10	12						10	12	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196788373	196788374	+	Frame_Shift_Ins	INS	-	-	T	rs397987193|rs71015736|rs34468832		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:196788373_196788374insT	ENST00000312428.6	-	23	3870_3871	c.3770_3771insA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCGCTAATATTTTTTTTTAC	0.421																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3769-3771)aatfs		dynein, axonemal, heavy chain 7				0,3664		0,0,1832						-9.7	0.0		dbSNP_126	97	3,7917		0,3,3957	no	frameshift	DNAH7	NM_018897.2		0,3,5789	A1A1,A1R,RR		0.0379,0.0,0.0259				3,11581				SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788373_196788374insT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3771dupA	2.37:g.196788382_196788382dupT	ENSP00000311273:p.Asn1257fs						p.N1257fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3870_3871	-			1257			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	ENST00000312428.6	37	c.3770_3771insA	CCDS42794.1																																																																																				0.421	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		21	46						21	46	---	---	---	---
BZW1	9689	broad.mit.edu	37	2	201683505	201683505	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:201683505delA	ENST00000409600.1	+	9	1302	c.847delA	c.(847-849)aaafs	p.K284fs	BZW1_ENST00000409226.1_Frame_Shift_Del_p.K288fs|BZW1_ENST00000452790.2_Frame_Shift_Del_p.K316fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	284	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GGAGGAGATGAAAAAAAACAA	0.368																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(847-849)aafs		basic leucine zipper and W2 domains 1							78.0	73.0	75.0					2																	201683505		1822	4076	5898	SO:0001589	frameshift_variant	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201683505delA	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.847delA	2.37:g.201683505delA	ENSP00000386474:p.Lys284fs					BZW1_ENST00000452790.2_Frame_Shift_Del_p.K316fs|BZW1_ENST00000409226.1_Frame_Shift_Del_p.K288fs	p.K284fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			9	1302	+			284			W2.		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Frame_Shift_Del	DEL	ENST00000409600.1	37	c.847delA	CCDS56156.1																																																																																				0.368	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		20	43						20	43	---	---	---	---
ORC2	4999	broad.mit.edu	37	2	201785020	201785021	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:201785020_201785021delAG	ENST00000234296.2	-	15	1639_1640	c.1390_1391delCT	c.(1390-1392)cttfs	p.L465fs		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	465					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CTTTACCAGAAGAGAGTTCTCA	0.426																																						ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(1390-1392)tfs		origin recognition complex, subunit 2																																				SO:0001589	frameshift_variant	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201785020_201785021delAG		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1390_1391delCT	2.37:g.201785024_201785025delAG	ENSP00000234296:p.Leu465fs						p.L465fs	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			15	1639_1640	-			465					Q13204|Q53TX5	Frame_Shift_Del	DEL	ENST00000234296.2	37	c.1390_1391delCT	CCDS2334.1																																																																																				0.426	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		31	60						31	60	---	---	---	---
GPR1	2825	broad.mit.edu	37	2	207041592	207041592	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:207041592delA	ENST00000407325.2	-	3	742	c.380delT	c.(379-381)ttcfs	p.F127fs	GPR1_ENST00000437420.1_Frame_Shift_Del_p.F127fs	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	127					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CACTGTCAGGAAAAAAACACT	0.458																																						ENST00000407325.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18						c.(379-381)tcfs		G protein-coupled receptor 1							111.0	104.0	106.0					2																	207041592		2203	4300	6503	SO:0001589	frameshift_variant	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041592delA		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.380delT	2.37:g.207041592delA	ENSP00000384345:p.Phe127fs					GPR1_ENST00000437420.1_Frame_Shift_Del_p.F127fs	p.F127fs	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	742	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	127					A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Frame_Shift_Del	DEL	ENST00000407325.2	37	c.380delT	CCDS2368.1																																																																																				0.458	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		55	67						55	67	---	---	---	---
SP110	3431	broad.mit.edu	37	2	231072718	231072718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:231072718delT	ENST00000358662.4	-	8	964	c.886delA	c.(886-888)agcfs	p.S296fs	SP110_ENST00000258382.5_Frame_Shift_Del_p.S296fs|SP110_ENST00000338556.3_Frame_Shift_Del_p.S48fs|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000258381.6_Frame_Shift_Del_p.S296fs|SP110_ENST00000392048.3_Frame_Shift_Del_p.S296fs|SP110_ENST00000540870.1_Frame_Shift_Del_p.S302fs	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	296					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CCTGGGAGGCTTTTTTTCTTA	0.393																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(886-888)gcfs		SP110 nuclear body protein							122.0	115.0	117.0					2																	231072718		2199	4298	6497	SO:0001589	frameshift_variant	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231072718delT	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.886delA	2.37:g.231072718delT	ENSP00000351488:p.Ser296fs					SP110_ENST00000486146.2_5'UTR|SP110_ENST00000338556.3_Frame_Shift_Del_p.S48fs|SP110_ENST00000258382.5_Frame_Shift_Del_p.S296fs|SP110_ENST00000358662.4_Frame_Shift_Del_p.S296fs|SP110_ENST00000540870.1_Frame_Shift_Del_p.S302fs|SP110_ENST00000392048.3_Frame_Shift_Del_p.S296fs	p.S296fs	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	8	963	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	296					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Frame_Shift_Del	DEL	ENST00000358662.4	37	c.886delA	CCDS2474.1																																																																																				0.393	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		3	6						3	6	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1371501	1371501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:1371501delA	ENST00000446702.2	+	11	1873	c.1246delA	c.(1246-1248)aaafs	p.K418fs	CNTN6_ENST00000350110.2_Frame_Shift_Del_p.K418fs|CNTN6_ENST00000539053.1_Frame_Shift_Del_p.K346fs			Q9UQ52	CNTN6_HUMAN	contactin 6	418	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K418fs*63(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGTCCAGTTAAAAAAAAGTC	0.393																																						ENST00000446702.2																			1	Deletion - Frameshift(1)	p.K418fs*63(1)	large_intestine(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1246-1248)aafs		contactin 6							79.0	82.0	81.0					3																	1371501		2203	4297	6500	SO:0001589	frameshift_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1371501delA	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1246delA	3.37:g.1371501delA	ENSP00000407822:p.Lys418fs					CNTN6_ENST00000350110.2_Frame_Shift_Del_p.K418fs|CNTN6_ENST00000539053.1_Frame_Shift_Del_p.K346fs	p.K418fs			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	11	1873	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	418			Ig-like C2-type 5.		Q2KHM2	Frame_Shift_Del	DEL	ENST00000446702.2	37	c.1246delA	CCDS2557.1																																																																																				0.393	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		24	45						24	45	---	---	---	---
SEMA3B	7869	broad.mit.edu	37	3	50311871	50311871	+	RNA	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:50311871delC	ENST00000418948.1	+	0	1449							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGCGGAACCACCCCCTCATGT	0.587											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B							113.0	116.0	115.0					3																	50311871		1954	4145	6099			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50311871delC	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311871delC			OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968					Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1449	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	DEL	ENST00000418948.1	37																																																																																						0.587	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		97	120						97	120	---	---	---	---
COL8A1	1295	broad.mit.edu	37	3	99513775	99513775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:99513775delC	ENST00000261037.3	+	5	1410	c.1030delC	c.(1030-1032)cccfs	p.P345fs	COL8A1_ENST00000273342.4_Frame_Shift_Del_p.P345fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	345	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCTACCAGGACCCCCAGGCCT	0.622																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(1030-1032)ccfs		collagen, type VIII, alpha 1							27.0	32.0	30.0					3																	99513775		2203	4299	6502	SO:0001589	frameshift_variant	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99513775delC	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1030delC	3.37:g.99513775delC	ENSP00000261037:p.Pro345fs					COL8A1_ENST00000273342.4_Frame_Shift_Del_p.P345fs	p.P345fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	1410	+			345			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Frame_Shift_Del	DEL	ENST00000261037.3	37	c.1030delC	CCDS2934.1																																																																																				0.622	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		23	36						23	36	---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112357095	112357095	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:112357095delT	ENST00000206423.3	-	2	2611	c.1658delA	c.(1657-1659)aagfs	p.K553fs	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Frame_Shift_Del_p.K553fs	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	553	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						attcttcatcttttttttctt	0.398																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1657-1659)agfs		coiled-coil domain containing 80							107.0	91.0	96.0					3																	112357095		2203	4300	6503	SO:0001589	frameshift_variant	151887							g.chr3:112357095delT	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1658delA	3.37:g.112357095delT	ENSP00000206423:p.Lys553fs					CCDC80_ENST00000439685.2_Frame_Shift_Del_p.K553fs	p.K553fs	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	2611	-			553			Lys-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Frame_Shift_Del	DEL	ENST00000206423.3	37	c.1658delA	CCDS2968.1																																																																																				0.398	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		12	29						12	29	---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127323896	127323896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:127323896delC	ENST00000265056.7	+	4	814	c.570delC	c.(568-570)ggcfs	p.G190fs		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	190	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GCATGGCGGGCCCCCGGCTGG	0.622																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(568-570)ggfs		minichromosome maintenance complex component 2							71.0	73.0	72.0					3																	127323896		2203	4300	6503	SO:0001589	frameshift_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127323896delC	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.570delC	3.37:g.127323896delC	ENSP00000265056:p.Gly190fs						p.G190fs	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			4	814	+			190			Interaction with MYST2 (By similarity).		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Frame_Shift_Del	DEL	ENST00000265056.7	37	c.570delC	CCDS3043.1																																																																																				0.622	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			38	97						38	97	---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129207227	129207227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:129207227delA	ENST00000348417.2	+	16	2056	c.1979delA	c.(1978-1980)gaafs	p.E660fs	IFT122_ENST00000347300.2_Frame_Shift_Del_p.E601fs|IFT122_ENST00000296266.3_Frame_Shift_Del_p.E711fs|IFT122_ENST00000440957.2_Frame_Shift_Del_p.E451fs|IFT122_ENST00000431818.2_Frame_Shift_Del_p.E510fs|IFT122_ENST00000349441.2_Frame_Shift_Del_p.E549fs|IFT122_ENST00000507564.1_Frame_Shift_Del_p.E652fs|IFT122_ENST00000504021.1_Frame_Shift_Del_p.E554fs	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	660					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTAGATTTTGAAACAGCAAAG	0.522																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2131-2133)gafs		intraflagellar transport 122 homolog (Chlamydomonas)							63.0	60.0	61.0					3																	129207227		2203	4300	6503	SO:0001589	frameshift_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129207227delA	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1979delA	3.37:g.129207227delA	ENSP00000324005:p.Glu660fs					IFT122_ENST00000431818.2_Frame_Shift_Del_p.E510fs|IFT122_ENST00000440957.2_Frame_Shift_Del_p.E451fs|IFT122_ENST00000349441.2_Frame_Shift_Del_p.E549fs|IFT122_ENST00000348417.2_Frame_Shift_Del_p.E660fs|IFT122_ENST00000347300.2_Frame_Shift_Del_p.E601fs|IFT122_ENST00000504021.1_Frame_Shift_Del_p.E554fs|IFT122_ENST00000507564.1_Frame_Shift_Del_p.E652fs	p.E711fs	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			17	2324	+			660					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Frame_Shift_Del	DEL	ENST00000348417.2	37	c.2132delA	CCDS3061.1																																																																																				0.522	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		29	48						29	48	---	---	---	---
ASTE1	28990	broad.mit.edu	37	3	130743461	130743461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:130743461delG	ENST00000264992.3	-	3	1131	c.690delC	c.(688-690)cccfs	p.P230fs	NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000510769.1_5'Flank|ASTE1_ENST00000514044.1_Frame_Shift_Del_p.P230fs|NEK11_ENST00000356918.4_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	230					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TCTCCATGATGGGTAGATTAA	0.448																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(688-690)ccfs		asteroid homolog 1 (Drosophila)							104.0	96.0	99.0					3																	130743461		2203	4300	6503	SO:0001589	frameshift_variant	28990				DNA repair		nuclease activity	g.chr3:130743461delG	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.690delC	3.37:g.130743461delG	ENSP00000264992:p.Pro230fs					ASTE1_ENST00000514044.1_Frame_Shift_Del_p.P230fs	p.P230fs	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			3	1131	-			230					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Del	DEL	ENST00000264992.3	37	c.690delC	CCDS3068.1																																																																																				0.448	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		28	92						28	92	---	---	---	---
SLC35G2	80723	broad.mit.edu	37	3	136573486	136573486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:136573486delA	ENST00000446465.2	+	2	812	c.184delA	c.(184-186)aaafs	p.K64fs	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Del_p.K64fs|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		GAGTGAAATGAAAAAAAAAGG	0.413																																						ENST00000446465.2																			0											c.(184-186)aafs		solute carrier family 35, member G2							88.0	99.0	95.0					3																	136573486		2203	4300	6503	SO:0001589	frameshift_variant	80723					Golgi apparatus|integral to membrane		g.chr3:136573486delA	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.184delA	3.37:g.136573486delA	ENSP00000400839:p.Lys64fs					RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Del_p.K64fs|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	p.K64fs	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	812	+			64						Frame_Shift_Del	DEL	ENST00000446465.2	37	c.184delA	CCDS3091.1																																																																																				0.413	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		7	173						7	173	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141499234	141499234	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:141499234delA	ENST00000264952.2	+	2	768	c.631delA	c.(631-633)aaafs	p.K211fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGTCCAGGTGAAAAACACTGG	0.458																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(631-633)aafs		G protein-coupled receptor kinase 7							54.0	55.0	54.0					3																	141499234		2203	4300	6503	SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141499234delA		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.631delA	3.37:g.141499234delA	ENSP00000264952:p.Lys211fs						p.K211fs	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			2	768	+			211			Protein kinase.			Frame_Shift_Del	DEL	ENST00000264952.2	37	c.631delA	CCDS3120.1																																																																																				0.458	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		17	25						17	25	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195392917	195392917	+	lincRNA	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:195392917delT	ENST00000445430.1	+	0	647									long intergenic non-protein coding RNA 969																		CTTCTTGCCCTTTTTTTTTCT	0.418																																						ENST00000445430.1																			0																																																			0							g.chr3:195392917delT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195392917delT														0	647	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.418	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	4						5	4	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:79238582_79238583insC	ENST00000325942.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1884)agccccfs	p.SP627fs	FRAS1_ENST00000264895.6_Frame_Shift_Ins_p.SP627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.SP627fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	627					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1879-1881)accfs		Fraser syndrome 1																																				SO:0001589	frameshift_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79238582_79238583insC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1887dupC	4.37:g.79238589_79238589dupC	ENSP00000326330:p.Ser627fs					FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs	p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			17	2320_2321	+			627					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Ins	INS	ENST00000325942.6	37	c.1880_1881insC	CCDS54772.1																																																																																				0.574	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			47	59						47	59	---	---	---	---
INTS12	57117	broad.mit.edu	37	4	106604358	106604360	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:106604358_106604360delTGT	ENST00000451321.2	-	7	1398_1400	c.919_921delACA	c.(919-921)acadel	p.T307del	INTS12_ENST00000340139.5_In_Frame_Del_p.T307del|INTS12_ENST00000394735.1_In_Frame_Del_p.T307del	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	307	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCAATTTTGCTGTTGAAGGACCA	0.458																																						ENST00000451321.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(919-921)del		integrator complex subunit 12																																				SO:0001651	inframe_deletion	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106604358_106604360delTGT		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.919_921delACA	4.37:g.106604358_106604360delTGT	ENSP00000415433:p.Thr307del					INTS12_ENST00000394735.1_In_Frame_Del_p.T307del|INTS12_ENST00000340139.5_In_Frame_Del_p.T307del	p.T307del	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	7	1398_1400	-			307			Ser-rich.		B2RC48|Q3B6Z3|Q9HD71	In_Frame_Del	DEL	ENST00000451321.2	37	c.919_921delACA	CCDS3671.1																																																																																				0.458	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		42	67						42	67	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151749479	151749479	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:151749479delT	ENST00000357115.3	-	30	5267	c.5024delA	c.(5023-5025)aacfs	p.N1675fs	LRBA_ENST00000510413.1_Frame_Shift_Del_p.N1675fs|LRBA_ENST00000507224.1_Frame_Shift_Del_p.N1675fs|LRBA_ENST00000535741.1_Frame_Shift_Del_p.N1675fs	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1675						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CACATTGACGTTTTTTGAAAC	0.448																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5023-5025)acfs		LPS-responsive vesicle trafficking, beach and anchor containing							156.0	142.0	147.0					4																	151749479		2203	4300	6503	SO:0001589	frameshift_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151749479delT	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5024delA	4.37:g.151749479delT	ENSP00000349629:p.Asn1675fs					LRBA_ENST00000507224.1_Frame_Shift_Del_p.N1675fs|LRBA_ENST00000510413.1_Frame_Shift_Del_p.N1675fs|LRBA_ENST00000357115.3_Frame_Shift_Del_p.N1675fs	p.N1675fs			P50851	LRBA_HUMAN			30	5497	-	all_hematologic(180;0.151)		1675					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Frame_Shift_Del	DEL	ENST00000357115.3	37	c.5024delA	CCDS3773.1																																																																																				0.448	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			30	67						30	67	---	---	---	---
FBXO8	26269	broad.mit.edu	37	4	175160263	175160263	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:175160263delA	ENST00000393674.2	-	5	1516	c.654delT	c.(652-654)tttfs	p.F218fs	FBXO8_ENST00000503293.1_Frame_Shift_Del_p.F177fs	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	218	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GGATATGACGAAAAAATTCTC	0.388																																						ENST00000393674.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(652-654)ttfs		F-box protein 8							77.0	79.0	78.0					4																	175160263		2203	4300	6503	SO:0001589	frameshift_variant	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175160263delA	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.654delT	4.37:g.175160263delA	ENSP00000377280:p.Phe218fs					FBXO8_ENST00000503293.1_Frame_Shift_Del_p.F177fs	p.F218fs	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	5	1516	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	218			SEC7.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Frame_Shift_Del	DEL	ENST00000393674.2	37	c.654delT	CCDS3820.1																																																																																				0.388	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		24	35						24	35	---	---	---	---
SREK1IP1	285672	broad.mit.edu	37	5	64023941	64023941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:64023941delT	ENST00000513458.4	-	4	438	c.271delA	c.(271-273)aggfs	p.R91fs		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	91	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						TACCttttccttttttttttc	0.264																																						ENST00000513458.4																			0				breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						c.(271-273)ggfs		SREK1-interacting protein 1							16.0	20.0	19.0					5																	64023941		2130	4171	6301	SO:0001589	frameshift_variant	285672				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding	g.chr5:64023941delT	AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.271delA	5.37:g.64023941delT	ENSP00000427401:p.Arg91fs						p.R91fs	NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN			4	438	-			91			Lys-rich.		Q32NC8	Frame_Shift_Del	DEL	ENST00000513458.4	37	c.271delA	CCDS34171.1																																																																																				0.264	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		6	1						6	1	---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101627312	101627313	+	Splice_Site	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:101627312_101627313insA	ENST00000310954.6	-	2	642		c.e2-2			NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CTACAATACCTAAAAAACAGAA	0.312																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.e2-2		solute carrier organic anion transporter family, member 4C1																																				SO:0001630	splice_region_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101627312_101627313insA	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.356-2->T	5.37:g.101627318_101627318dupA								NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	2	642	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)							Splice_Site	INS	ENST00000310954.6	37		CCDS34205.1																																																																																				0.312	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	Intron	18	28						18	28	---	---	---	---
WDR55	54853	broad.mit.edu	37	5	140049102	140049102	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140049102delA	ENST00000358337.5	+	7	1252	c.1015delA	c.(1015-1017)aaafs	p.K341fs	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	341					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.K341fs*8(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTCGGCGCAAAAAAAAGGG	0.592																																						ENST00000358337.5																			1	Deletion - Frameshift(1)	p.K341fs*8(1)	large_intestine(1)	NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9						c.(1015-1017)aafs		WD repeat domain 55							43.0	45.0	45.0					5																	140049102		2203	4300	6503	SO:0001589	frameshift_variant	54853				rRNA processing	cytoplasm|nucleolus		g.chr5:140049102delA	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.1015delA	5.37:g.140049102delA	ENSP00000351100:p.Lys341fs					WDR55_ENST00000520764.1_3'UTR	p.K341fs	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1252	+			341					Q9NXK4	Frame_Shift_Del	DEL	ENST00000358337.5	37	c.1015delA	CCDS4235.1																																																																																				0.592	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		19	20						19	20	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140604308	140604309	+	Frame_Shift_Del	DEL	AG	AG	-	rs201770988		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140604308_140604309delAG	ENST00000239449.4	+	1	1231_1232	c.1231_1232delAG	c.(1231-1233)agafs	p.R411fs	PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.R258fs	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACTGGACAGAGAGAGCCAA	0.47																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1231-1233)afs																																						SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604308_140604309delAG	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1231_1232delAG	5.37:g.140604314_140604315delAG	ENSP00000239449:p.Arg411fs					PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.R258fs	p.R411fs	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1231_1232	+			411			Cadherin 4.		B4DPE2|Q4FZA4|Q4KN11	Frame_Shift_Del	DEL	ENST00000239449.4	37	c.1231_1232delAG	CCDS4256.1																																																																																				0.470	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		105	115						105	115	---	---	---	---
TUBB2B	347733	broad.mit.edu	37	6	3225652	3225653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:3225652_3225653insC	ENST00000259818.7	-	4	861_862	c.670_671insG	c.(670-672)gacfs	p.D224fs	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	224					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GTGGTTGAGGTCCCCGTAGGTG	0.614																																						ENST00000259818.7																			0				kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10						c.(670-672)cctfs		tubulin, beta 2B class IIb																																				SO:0001589	frameshift_variant	347733				'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr6:3225652_3225653insC	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.671dupG	6.37:g.3225656_3225656dupC	ENSP00000259818:p.Asp224fs					TUBB2B_ENST00000473006.1_5'UTR	p.P224fs	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN			4	861_862	-	Ovarian(93;0.0386)	all_hematologic(90;0.108)	224					A8K068	Frame_Shift_Ins	INS	ENST00000259818.7	37	c.670_671insG	CCDS4485.1																																																																																				0.614	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		44	53						44	53	---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7247181	7247181	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:7247181delC	ENST00000349384.6	+	11	4647	c.4333delC	c.(4333-4335)cccfs	p.P1446fs	RREB1_ENST00000379938.2_Frame_Shift_Del_p.P1501fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.P1446fs|RREB1_ENST00000334984.6_Intron	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1446					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGAGGAGAAGCCCCCCGAGAC	0.746																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4498-4500)ccfs		ras responsive element binding protein 1							5.0	7.0	6.0					6																	7247181		2058	4035	6093	SO:0001589	frameshift_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7247181delC	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4333delC	6.37:g.7247181delC	ENSP00000305560:p.Pro1446fs					RREB1_ENST00000349384.6_Frame_Shift_Del_p.P1446fs|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Frame_Shift_Del_p.P1446fs	p.P1501fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			12	5035	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1446					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Frame_Shift_Del	DEL	ENST00000349384.6	37	c.4498delC	CCDS34336.1																																																																																				0.746	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			11	3						11	3	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7583793	7583793	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:7583793delT	ENST00000379802.3	+	24	6639	c.6298delT	c.(6298-6300)tttfs	p.F2100fs	DSP_ENST00000418664.2_Frame_Shift_Del_p.F1501fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2100	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGATCCATTTTCAGGCAA	0.468																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(6298-6300)ttfs		desmoplakin							109.0	115.0	113.0					6																	7583793		2203	4300	6503	SO:0001589	frameshift_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583793delT	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6298delT	6.37:g.7583793delT	ENSP00000369129:p.Phe2100fs					DSP_ENST00000418664.2_Frame_Shift_Del_p.F1501fs	p.F2100fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6639	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2100			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL	ENST00000379802.3	37	c.6298delT	CCDS4501.1																																																																																				0.468	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		225	156						225	156	---	---	---	---
C6orf10	10665	broad.mit.edu	37	6	32261771	32261772	+	Frame_Shift_Ins	INS	-	-	T	rs560505	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:32261771_32261772insT	ENST00000447241.2	-	23	850_851	c.678_679insA	c.(676-681)aaatctfs	p.S227fs	C6orf10_ENST00000527965.1_Frame_Shift_Ins_p.S211fs|C6orf10_ENST00000442822.2_Frame_Shift_Ins_p.S218fs|C6orf10_ENST00000375007.4_Frame_Shift_Ins_p.S225fs|C6orf10_ENST00000375015.4_Frame_Shift_Ins_p.S226fs|C6orf10_ENST00000533191.1_Frame_Shift_Ins_p.S225fs	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	227			S -> P (in dbSNP:rs560505). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGGAACAAGATTTTTTTGCAA	0.337																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(673-678)aacttgfs		chromosome 6 open reading frame 10																																				SO:0001589	frameshift_variant	10665					integral to membrane		g.chr6:32261771_32261772insT	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.679dupA	6.37:g.32261778_32261778dupT	ENSP00000415517:p.Ser227fs					C6orf10_ENST00000533191.1_Frame_Shift_Ins_p.N224fs|C6orf10_ENST00000442822.2_Frame_Shift_Ins_p.N217fs|C6orf10_ENST00000375007.4_Frame_Shift_Ins_p.N224fs|C6orf10_ENST00000447241.2_Frame_Shift_Ins_p.N226fs|C6orf10_ENST00000527965.1_Frame_Shift_Ins_p.N210fs	p.N225fs			Q5SRN2	CF010_HUMAN			26	875_876	-			226					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Frame_Shift_Ins	INS	ENST00000447241.2	37	c.675_676insA	CCDS34422.1																																																																																				0.337	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		61	58						61	58	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79711725	79711726	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:79711725_79711726insA	ENST00000275034.4	-	17	1936_1937	c.1769_1770insT	c.(1768-1770)ttgfs	p.L590fs		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	590					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CAACATCAACCAAAAAAGGGGG	0.426																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(1768-1770)tgtfs		pleckstrin homology domain interacting protein																																				SO:0001589	frameshift_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79711725_79711726insA	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1770dupT	6.37:g.79711731_79711731dupA	ENSP00000275034:p.Leu590fs						p.C590fs	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	17	1936_1937	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	590					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Ins	INS	ENST00000275034.4	37	c.1769_1770insT	CCDS4987.1																																																																																				0.426	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			38	95						38	95	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87970974	87970974	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:87970974delA	ENST00000369577.3	+	8	7670	c.7627delA	c.(7627-7629)aaafs	p.K2544fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.K2539fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2544						nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTCACAAAATAAAAAAAGGAA	0.358																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(7627-7629)aafs		zinc finger protein 292							42.0	41.0	41.0					6																	87970974		1820	4073	5893	SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970974delA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7627delA	6.37:g.87970974delA	ENSP00000358590:p.Lys2544fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.K2539fs	p.K2544fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7670	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2544					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.7627delA	CCDS47457.1																																																																																				0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		37	40						37	40	---	---	---	---
EZR	7430	broad.mit.edu	37	6	159188477	159188477	+	Frame_Shift_Del	DEL	G	G	-	rs139613796	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:159188477delG	ENST00000367075.3	-	13	1580	c.1412delC	c.(1411-1413)ccgfs	p.P476fs	EZR_ENST00000392177.4_Frame_Shift_Del_p.P444fs|EZR_ENST00000337147.7_Frame_Shift_Del_p.P476fs|MIR3918_ENST00000581555.1_RNA	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	476	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGGTGGGGGCGGGGGTGCTGT	0.597			T	ROS1	NSCLC																																	ENST00000367075.3				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(1411-1413)cgfs		ezrin							46.0	50.0	49.0					6																	159188477		2203	4300	6503	SO:0001589	frameshift_variant	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159188477delG	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1412delC	6.37:g.159188477delG	ENSP00000356042:p.Pro476fs					EZR_ENST00000337147.7_Frame_Shift_Del_p.P476fs|EZR_ENST00000392177.4_Frame_Shift_Del_p.P444fs	p.P476fs	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	13	1580	-		Breast(66;0.000776)|Ovarian(120;0.0303)	476			Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Frame_Shift_Del	DEL	ENST00000367075.3	37	c.1412delC	CCDS5258.1																																																																																				0.597	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		100	84						100	84	---	---	---	---
ANLN	54443	broad.mit.edu	37	7	36461586	36461588	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:36461586_36461588delCTT	ENST00000265748.2	+	13	2505_2507	c.2284_2286delCTT	c.(2284-2286)cttdel	p.L764del	ANLN_ENST00000396068.2_In_Frame_Del_p.L727del	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	764	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCAGAAAGACTTCTTCTAATTG	0.379																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2284-2286)del		anillin, actin binding protein																																				SO:0001651	inframe_deletion	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36461586_36461588delCTT	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2284_2286delCTT	7.37:g.36461589_36461591delCTT	ENSP00000265748:p.Leu764del					ANLN_ENST00000396068.2_In_Frame_Del_p.L727del	p.L764del	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			13	2505_2507	+			764			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	In_Frame_Del	DEL	ENST00000265748.2	37	c.2284_2286delCTT	CCDS5447.1																																																																																				0.379	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		37	53						37	53	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102852609	102852609	+	RNA	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:102852609delT	ENST00000312132.4	-	0	3344							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TAAAAATACCTTTTTAAAGAT	0.259																																						ENST00000312132.4																			0																																																			0							g.chr7:102852609delT	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102852609delT														0	3344	-								Q8N9V4|Q8ND62	RNA	DEL	ENST00000312132.4	37																																																																																						0.259	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	3						3	3	---	---	---	---
RP11-274B21.1	0	broad.mit.edu	37	7	128249447	128249447	+	RNA	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:128249447delT	ENST00000605862.1	+	0	665																											GAGCAAGTGCTTTTTTTTCCC	0.408																																						ENST00000605862.1																			0																																																			0							g.chr7:128249447delT																													7.37:g.128249447delT														0	665	+									RNA	DEL	ENST00000605862.1	37																																																																																						0.408	RP11-274B21.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468355.1			8	11						8	11	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140482927	140482927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:140482927delG	ENST00000288602.6	-	10	1268	c.1208delC	c.(1207-1209)cctfs	p.P403fs		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	403					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TAATGAGGCAGGGGGGGTAGC	0.428		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1207-1209)ctfs		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						58.0	56.0	57.0					7																	140482927		2203	4300	6503	SO:0001589	frameshift_variant	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140482927delG	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1208delC	7.37:g.140482927delG	ENSP00000288602:p.Pro403fs						p.P403fs	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			10	1268	-	Melanoma(164;0.00956)		403					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Frame_Shift_Del	DEL	ENST00000288602.6	37	c.1208delC	CCDS5863.1																																																																																				0.428	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	33						15	33	---	---	---	---
CHPF2	54480	broad.mit.edu	37	7	150935414	150935415	+	Frame_Shift_Ins	INS	-	-	G	rs559445545|rs542748933		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:150935414_150935415insG	ENST00000035307.2	+	4	3479_3480	c.1966_1967insG	c.(1966-1968)cggfs	p.R656fs	MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Frame_Shift_Ins_p.R648fs	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	656	Gly/Pro-rich.				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)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGACCCCTCCCGGGGGGCTCCT	0.678																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(1966-1968)gggfs		chondroitin polymerizing factor 2																																				SO:0001589	frameshift_variant	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150935414_150935415insG	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1972dupG	7.37:g.150935420_150935420dupG	ENSP00000035307:p.Arg656fs					CHPF2_ENST00000495645.1_Frame_Shift_Ins_p.G648fs	p.G656fs	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			4	3479_3480	+			656			Gly/Pro-rich.		B2DBD8|Q6P2I4|Q6UXD2	Frame_Shift_Ins	INS	ENST00000035307.2	37	c.1966_1967insG	CCDS34779.1																																																																																				0.678	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		16	20						16	20	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151873588	151873588	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:151873588delA	ENST00000262189.6	-	38	9168	c.8950delT	c.(8950-8952)tctfs	p.S2984fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.S2984fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2984					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACACCCTGAGAAAAAACATGG	0.473																																						ENST00000355193.2																			0											c.(8950-8952)ctfs		lysine (K)-specific methyltransferase 2C							55.0	54.0	54.0					7																	151873588		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151873588delA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8950delT	7.37:g.151873588delA	ENSP00000262189:p.Ser2984fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.S2984fs	p.S2984fs							38	9168	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.8950delT	CCDS5931.1																																																																																				0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			30	27						30	27	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(313-315)aafs		microcephalin 1							83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	79648					microtubule organizing center		g.chr8:6289099delA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs					MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	4	389	+		Hepatocellular(245;0.0663)	107					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	c.313delA	CCDS43689.1																																																																																				0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		103	67						103	67	---	---	---	---
SPAG11B	10407	broad.mit.edu	37	8	7308689	7308690	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:7308689_7308690insG	ENST00000297498.2	-	3	412_413	c.246_247insC	c.(244-249)ccctcafs	p.S83fs	SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000528168.1_Frame_Shift_Ins_p.S30fs|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000361111.2_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	83					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ATCCTAAATGAGGGTCCTCGAG	0.46																																						ENST00000297498.2																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(244-249)cccattfs		sperm associated antigen 11B																																				SO:0001589	frameshift_variant	10407				spermatogenesis	extracellular region		g.chr8:7308689_7308690insG	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.247dupC	8.37:g.7308692_7308692dupG	ENSP00000297498:p.Ser83fs					SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000528168.1_Frame_Shift_Ins_p.I30fs|SPAG11B_ENST00000361111.2_Intron	p.I83fs	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	3	412_413	-			83					E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Frame_Shift_Ins	INS	ENST00000297498.2	37	c.246_247insC	CCDS5966.1																																																																																				0.460	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		80	65						80	65	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18729144	18729145	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:18729144_18729145insTC	ENST00000327040.8	-	3	1331_1332	c.1229_1230insGA	c.(1228-1230)gacfs	p.D410fs	PSD3_ENST00000440756.2_Frame_Shift_Ins_p.D410fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.D345fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	410					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTTCCCTGTCTCTCTCTGG	0.45																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1228-1230)gagfs		pleckstrin and Sec7 domain containing 3																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729144_18729145insTC	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1228_1229dupGA	8.37:g.18729151_18729152dupTC	ENSP00000324127:p.Asp410fs					PSD3_ENST00000523619.1_Frame_Shift_Ins_p.E345fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.E410fs	p.E410fs			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	1331_1332	-			410					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.1229_1230insGA	CCDS43720.1																																																																																				0.450	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		77	64						77	64	---	---	---	---
RP11-380I10.4	0	broad.mit.edu	37	8	28158143	28158144	+	RNA	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:28158143_28158144insA	ENST00000521731.1	-	0	230																											GGACAACAACTAAAAAAAAAGA	0.322																																						ENST00000521731.1																			0																																																			0							g.chr8:28158143_28158144insA																													8.37:g.28158152_28158152dupA														0	230	-									RNA	INS	ENST00000521731.1	37																																																																																						0.322	RP11-380I10.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000376306.1			7	19						7	19	---	---	---	---
GSR	2936	broad.mit.edu	37	8	30539472	30539473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:30539472_30539473insG	ENST00000221130.5	-	11	1349_1350	c.1259_1260insC	c.(1258-1260)cctfs	p.P420fs	GSR_ENST00000541648.1_Frame_Shift_Ins_p.P367fs|GSR_ENST00000537535.1_Frame_Shift_Ins_p.P338fs|GSR_ENST00000414019.1_Frame_Shift_Ins_p.P377fs|GSR_ENST00000546342.1_Frame_Shift_Ins_p.P391fs	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	420					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	CTGTCCCAATAGGGGGGTGGCT	0.441																																						ENST00000221130.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23						c.(1258-1260)catfs		glutathione reductase	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)																																			SO:0001589	frameshift_variant	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30539472_30539473insG		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1260dupC	8.37:g.30539478_30539478dupG	ENSP00000221130:p.Pro420fs					GSR_ENST00000537535.1_Frame_Shift_Ins_p.H338fs|GSR_ENST00000546342.1_Frame_Shift_Ins_p.H391fs|GSR_ENST00000541648.1_Frame_Shift_Ins_p.H367fs|GSR_ENST00000414019.1_Frame_Shift_Ins_p.H377fs	p.H420fs	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	11	1349_1350	-			420					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Frame_Shift_Ins	INS	ENST00000221130.5	37	c.1259_1260insC	CCDS34877.1																																																																																				0.441	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			26	126						26	126	---	---	---	---
ADAM32	203102	broad.mit.edu	37	8	39068767	39068767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:39068767delA	ENST00000379907.4	+	12	1284	c.1157delA	c.(1156-1158)caafs	p.Q386fs	ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	386						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CCACAAATGCAAAAAAAATCT	0.383																																						ENST00000379907.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(1156-1158)cafs		ADAM metallopeptidase domain 32				30,3484		11,8,1738	72.0	68.0	69.0			3.2	1.0	8		71	64,7768		27,10,3879	no	frameshift	ADAM32	NM_145004.5		38,18,5617	A1A1,A1R,RR		0.8172,0.8537,0.8285			39068767	94,11252	1818	4085	5903	SO:0001589	frameshift_variant	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39068767delA	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1157delA	8.37:g.39068767delA	ENSP00000369238:p.Gln386fs					ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	p.Q386fs	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		12	1284	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	386					Q8TC42	Frame_Shift_Del	DEL	ENST00000379907.4	37	c.1157delA	CCDS47846.1																																																																																				0.383	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		10	31						10	31	---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42022614	42022614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:42022614delG	ENST00000518421.1	+	6	900	c.609delG	c.(607-609)cagfs	p.Q203fs	AP3M2_ENST00000174653.3_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000517922.1_Frame_Shift_Del_p.Q203fs	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	203	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CTGAGATCCAGGGGGTGATTG	0.443																																						ENST00000518421.1																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17						c.(607-609)cafs		adaptor-related protein complex 3, mu 2 subunit							89.0	83.0	85.0					8																	42022614		2203	4300	6503	SO:0001589	frameshift_variant	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42022614delG	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.609delG	8.37:g.42022614delG	ENSP00000428787:p.Gln203fs					AP3M2_ENST00000174653.3_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000396926.3_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000517922.1_Frame_Shift_Del_p.Q203fs	p.Q203fs	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	900	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	203			MHD.		B2RCR0|D3DSY2|Q7Z472	Frame_Shift_Del	DEL	ENST00000518421.1	37	c.609delG	CCDS6125.1																																																																																				0.443	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			19	89						19	89	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48701554	48701555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:48701554_48701555insT	ENST00000314191.2	-	77	10867_10868	c.10811_10812insA	c.(10810-10812)aacfs	p.N3604fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.N3604fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3605					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTTTTTCAATGTTTTTTTTATT	0.401								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(10810-10812)aatfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide																																				SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48701554_48701555insT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10812dupA	8.37:g.48701562_48701562dupT	ENSP00000313420:p.Asn3604fs					PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.N3604fs|PRKDC_ENST00000523565.1_5'UTR	p.N3604fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			77	10867_10868	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3605					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Ins	INS	ENST00000314191.2	37	c.10811_10812insA																																																																																					0.401	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		22	121						22	121	---	---	---	---
SOX17	64321	broad.mit.edu	37	8	55371765	55371766	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:55371765_55371766insG	ENST00000297316.4	+	2	659_660	c.455_456insG	c.(454-459)gagggcfs	p.EG152fs		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	152					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			AAGCGGGTGGAGGGCGGCTTCC	0.743																																						ENST00000297316.4																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(454-456)gggfs		SRY (sex determining region Y)-box 17																																				SO:0001589	frameshift_variant	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55371765_55371766insG	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.458dupG	8.37:g.55371768_55371768dupG	ENSP00000297316:p.Glu152fs						p.G152fs	NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	659_660	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	152						Frame_Shift_Ins	INS	ENST00000297316.4	37	c.455_456insG	CCDS6159.1																																																																																				0.743	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			21	7						21	7	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61778453	61778454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:61778453_61778454insG	ENST00000423902.2	+	38	9434_9435	c.8955_8956insG	c.(8956-8958)gggfs	p.G2986fs	CHD7_ENST00000524602.1_Frame_Shift_Ins_p.G937fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2986					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACTCACTTGATGGGGGGGATGA	0.446																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123	GRCh37	CI084262	CHD7	I		c.(8953-8958)gaggggfs		chromodomain helicase DNA binding protein 7																																				SO:0001589	frameshift_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61778453_61778454insG	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8962dupG	8.37:g.61778460_61778460dupG	ENSP00000392028:p.Gly2986fs					CHD7_ENST00000524602.1_Frame_Shift_Ins_p.EG936fs	p.EG2985fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	9434_9435	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2985					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Frame_Shift_Ins	INS	ENST00000423902.2	37	c.8955_8956insG	CCDS47865.1																																																																																				0.446	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		18	16						18	16	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71056964	71056964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:71056964delT	ENST00000452400.2	-	13	2906	c.2725delA	c.(2725-2727)agtfs	p.S909fs	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	909					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGTAGGGACTACTGTTTCTG	0.468			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(2725-2727)gtfs		nuclear receptor coactivator 2							198.0	183.0	188.0					8																	71056964		1920	4138	6058	SO:0001589	frameshift_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71056964delT	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2725delA	8.37:g.71056964delT	ENSP00000399968:p.Ser909fs					NCOA2_ENST00000267974.4_Intron	p.S909fs	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		13	2906	-	Breast(64;0.201)		909					Q14CD2	Frame_Shift_Del	DEL	ENST00000452400.2	37	c.2725delA	CCDS47872.1																																																																																				0.468	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			43	102						43	102	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106815052	106815052	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:106815052delA	ENST00000407775.2	+	8	2992	c.2742delA	c.(2740-2742)atafs	p.I914fs	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Frame_Shift_Del_p.I782fs|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Frame_Shift_Del_p.I645fs|ZFPM2_ENST00000520492.1_Frame_Shift_Del_p.I782fs|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	914					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAAGCATAATAAAATGTGAGA	0.453																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2740-2742)atfs		zinc finger protein, FOG family member 2							40.0	39.0	39.0					8																	106815052		1888	4117	6005	SO:0001589	frameshift_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815052delA	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2742delA	8.37:g.106815052delA	ENSP00000384179:p.Ile914fs					ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Frame_Shift_Del_p.I782fs|ZFPM2_ENST00000517361.1_Frame_Shift_Del_p.I782fs|ZFPM2_ENST00000378472.4_Frame_Shift_Del_p.I645fs|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	p.I914fs	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2992	+			914					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Frame_Shift_Del	DEL	ENST00000407775.2	37	c.2742delA	CCDS47908.1																																																																																				0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			42	20						42	20	---	---	---	---
SNTB1	6641	broad.mit.edu	37	8	121561041	121561041	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:121561041delA	ENST00000395601.3	-	6	1708	c.1294delT	c.(1294-1296)tgcfs	p.C432fs	SNTB1_ENST00000517992.1_Frame_Shift_Del_p.C432fs	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	432	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GAATTGTGGCAACCCTGTACT	0.507																																						ENST00000395601.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(1294-1296)gcfs		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							196.0	151.0	166.0					8																	121561041		2203	4300	6503	SO:0001589	frameshift_variant	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121561041delA	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1294delT	8.37:g.121561041delA	ENSP00000378965:p.Cys432fs					SNTB1_ENST00000517992.1_Frame_Shift_Del_p.C432fs	p.C432fs	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		6	1708	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		432			PH 2.		A8K9E0|O14912|Q4KMG8	Frame_Shift_Del	DEL	ENST00000395601.3	37	c.1294delT	CCDS6334.1																																																																																				0.507	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		8	112						8	112	---	---	---	---
SQLE	6713	broad.mit.edu	37	8	126011893	126011893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:126011893delC	ENST00000265896.5	+	1	1146	c.248delC	c.(247-249)tccfs	p.S83fs	SQLE_ENST00000523430.1_Intron|RP11-6D1.3_ENST00000523030.1_RNA	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	83					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGGGCCAAATCCCCCCCTGAA	0.547																																						ENST00000265896.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(247-249)tcfs		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						32.0	33.0	33.0					8																	126011893		1856	4117	5973	SO:0001589	frameshift_variant	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126011893delC	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.248delC	8.37:g.126011893delC	ENSP00000265896:p.Ser83fs					SQLE_ENST00000523430.1_Intron	p.S83fs	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		1	1146	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		83					Q9UEK6	Frame_Shift_Del	DEL	ENST00000265896.5	37	c.248delC	CCDS47918.1																																																																																				0.547	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		38	31						38	31	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144947314	144947314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144947314delG	ENST00000525985.1	-	2	179	c.108delC	c.(106-108)cccfs	p.P36fs				P58107	EPIPL_HUMAN	epiplakin 1	36						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGGGGCCTGGGGGGCGTGC	0.697																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(106-108)ccfs		epiplakin 1							20.0	27.0	25.0					8																	144947314		2091	4214	6305	SO:0001589	frameshift_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144947314delG	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.108delC	8.37:g.144947314delG	ENSP00000436337:p.Pro36fs						p.P36fs			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	179	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		36					Q76E58|Q9NSU9	Frame_Shift_Del	DEL	ENST00000525985.1	37	c.108delC																																																																																					0.697	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		38	123						38	123	---	---	---	---
ARHGAP39	80728	broad.mit.edu	37	8	145773375	145773375	+	Frame_Shift_Del	DEL	G	G	-	rs367838474		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:145773375delG	ENST00000276826.5	-	4	1296	c.1095delC	c.(1093-1095)cccfs	p.P365fs	ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.P365fs|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.P365fs			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	365	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGCAGGGCGAGGGGGGGCCCT	0.701																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1093-1095)ccfs		Rho GTPase activating protein 39				12,4138		2,8,2065	14.0	12.0	13.0			5.4	0.1	8		13	29,8049		4,21,4014	no	frameshift	ARHGAP39	NM_025251.1		6,29,6079	A1A1,A1R,RR		0.359,0.2892,0.3353			145773375	41,12187	2169	4243	6412	SO:0001589	frameshift_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773375delG		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1095delC	8.37:g.145773375delG	ENSP00000276826:p.Pro365fs					ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.P365fs|ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.P365fs	p.P365fs			Q9C0H5	RHG39_HUMAN			4	1296	-			365			Pro-rich.		B4E1I1	Frame_Shift_Del	DEL	ENST00000276826.5	37	c.1095delC																																																																																					0.701	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			20	51						20	51	---	---	---	---
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-	rs387906562|rs369807922		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													ENST00000388918.5																			2	Deletion - Frameshift(2)	p.N353fs*31(2)	NS(1)|lung(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22	GRCh37	CD085016	TYRP1	D		c.(1054-1059)acfs		tyrosinase-related protein 1																																				SO:0001589	frameshift_variant	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12702411_12702414delACAA	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs					TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA	p.TN352fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	5	1183_1186	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	352					P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.1054_1057delACAA	CCDS34990.1																																																																																				0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		14	24						14	24	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18829843	18829843	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:18829843delC	ENST00000380548.4	+	23	4456	c.4117delC	c.(4117-4119)cccfs	p.P1374fs	ADAMTSL1_ENST00000380545.5_Frame_Shift_Del_p.P75fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1374						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCACAGATCCCCCCCAAGT	0.567																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(4117-4119)ccfs		ADAMTS-like 1							92.0	95.0	94.0					9																	18829843		2066	4195	6261	SO:0001589	frameshift_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18829843delC	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4117delC	9.37:g.18829843delC	ENSP00000369921:p.Pro1374fs					ADAMTSL1_ENST00000380545.5_Frame_Shift_Del_p.P75fs	p.P1374fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	23	4456	+			1374					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Del	DEL	ENST00000380548.4	37	c.4117delC	CCDS47954.1																																																																																				0.567	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			36	51						36	51	---	---	---	---
NFX1	4799	broad.mit.edu	37	9	33294897	33294897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:33294897delA	ENST00000379540.3	+	2	567	c.505delA	c.(505-507)aaafs	p.K170fs	NFX1_ENST00000318524.6_Frame_Shift_Del_p.K170fs|NFX1_ENST00000379521.4_Frame_Shift_Del_p.K170fs	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	170					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGCAAAACCCAAAAAAGCAAC	0.483																																						ENST00000379540.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(505-507)aafs		nuclear transcription factor, X-box binding 1							80.0	81.0	81.0					9																	33294897		2203	4300	6503	SO:0001589	frameshift_variant	0				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33294897delA	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.505delA	9.37:g.33294897delA	ENSP00000368856:p.Lys170fs					NFX1_ENST00000318524.6_Frame_Shift_Del_p.K170fs|NFX1_ENST00000379521.4_Frame_Shift_Del_p.K170fs	p.K170fs	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	2	567	+			170					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Frame_Shift_Del	DEL	ENST00000379540.3	37	c.505delA	CCDS6538.1																																																																																				0.483	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			31	64						31	64	---	---	---	---
ALDH1A1	216	broad.mit.edu	37	9	75545849	75545849	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:75545849delC	ENST00000297785.3	-	3	312	c.258delG	c.(256-258)gggfs	p.G86fs	ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Frame_Shift_Del_p.G86fs	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	86					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	ATAATAGTCGCCCCCTCTCGG	0.498																																						ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(256-258)ggfs		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						97.0	96.0	97.0					9																	75545849		2203	4300	6503	SO:0001589	frameshift_variant	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75545849delC	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.258delG	9.37:g.75545849delC	ENSP00000297785:p.Gly86fs					ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Frame_Shift_Del_p.G86fs	p.G86fs	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN			3	312	-			86					O00768|Q5SYR1	Frame_Shift_Del	DEL	ENST00000297785.3	37	c.258delG	CCDS6644.1																																																																																				0.498	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			58	88						58	88	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84607691	84607692	+	Frame_Shift_Ins	INS	-	-	G	rs34942699		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:84607691_84607692insG	ENST00000344803.2	+	4	2353_2354	c.2306_2307insG	c.(2305-2310)gtggggfs	p.VG769fs		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	769					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATGGAGAATGTGGGGAATTATC	0.48																																						ENST00000344803.2																			0											c.(2305-2307)gggfs		SPATA31 subfamily D, member 1																																				SO:0001589	frameshift_variant	389763							g.chr9:84607691_84607692insG		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2310dupG	9.37:g.84607695_84607695dupG	ENSP00000341988:p.Val769fs						p.G769fs	NM_001001670.2	NP_001001670.1					4	2353_2354	+									Frame_Shift_Ins	INS	ENST00000344803.2	37	c.2306_2307insG	CCDS47986.1																																																																																				0.480	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		48	48						48	48	---	---	---	---
UGCG	7357	broad.mit.edu	37	9	114695179	114695180	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:114695179_114695180insT	ENST00000374279.3	+	9	1537_1538	c.1087_1088insT	c.(1087-1089)attfs	p.I363fs	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	363					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)	p.I363V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	GACAATATACATTTTTTTGTCT	0.401																																						ENST00000374279.3																			1	Substitution - Missense(1)	p.I363V(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12						c.(1087-1089)tttfs		UDP-glucose ceramide glucosyltransferase	Miglustat(DB00419)																																			SO:0001589	frameshift_variant	7357				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	g.chr9:114695179_114695180insT	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.1094dupT	9.37:g.114695186_114695186dupT	ENSP00000363397:p.Ile363fs						p.F363fs	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.0433)	9	1537_1538	+			363					Q5T258	Frame_Shift_Ins	INS	ENST00000374279.3	37	c.1087_1088insT	CCDS6782.1																																																																																				0.401	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		19	119						19	119	---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136633624	136633626	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:136633624_136633626delCAC	ENST00000371850.3	-	29	2558_2560	c.2527_2529delGTG	c.(2527-2529)gtgdel	p.V843del	VAV2_ENST00000406606.3_In_Frame_Del_p.V804del|VAV2_ENST00000371851.1_In_Frame_Del_p.V833del	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	843	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TGTAGATCCTCACCACGTCACCC	0.65																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(2497-2499)del		vav 2 guanine nucleotide exchange factor																																				SO:0001651	inframe_deletion	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136633624_136633626delCAC		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2527_2529delGTG	9.37:g.136633627_136633629delCAC	ENSP00000360916:p.Val843del					VAV2_ENST00000406606.3_In_Frame_Del_p.V804del|VAV2_ENST00000371850.3_In_Frame_Del_p.V843del	p.V833del			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	27	2822_2824	-			843			SH3 2.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	In_Frame_Del	DEL	ENST00000371850.3	37	c.2497_2499delGTG	CCDS48053.1																																																																																				0.650	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			36	83						36	83	---	---	---	---
QSOX2	169714	broad.mit.edu	37	9	139107074	139107074	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139107074delG	ENST00000358701.5	-	10	1323	c.1286delC	c.(1285-1287)ccgfs	p.P429fs		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	429	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GAGAGAACACGGGTAACCCCT	0.458																																						ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1285-1287)cgfs		quiescin Q6 sulfhydryl oxidase 2							113.0	95.0	101.0					9																	139107074		2203	4300	6503	SO:0001589	frameshift_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139107074delG	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1286delC	9.37:g.139107074delG	ENSP00000351536:p.Pro429fs						p.P429fs	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	10	1323	-		Myeloproliferative disorder(178;0.0511)	429			ERV/ALR sulfhydryl oxidase.		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Frame_Shift_Del	DEL	ENST00000358701.5	37	c.1286delC	CCDS35178.1																																																																																				0.458	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		17	43						17	43	---	---	---	---
NPDC1	56654	broad.mit.edu	37	9	139935633	139935633	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139935633delC	ENST00000371601.4	-	3	479	c.266delG	c.(265-267)ggcfs	p.G89fs	NPDC1_ENST00000371600.3_Frame_Shift_Del_p.G167fs|NPDC1_ENST00000488145.1_5'UTR	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	89						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CTGGGGCCGGCCCCCGCCTGG	0.687																																						ENST00000371600.3																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(499-501)gcfs		neural proliferation, differentiation and control, 1							22.0	19.0	20.0					9																	139935633		2067	4086	6153	SO:0001589	frameshift_variant	56654					integral to membrane		g.chr9:139935633delC	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.266delG	9.37:g.139935633delC	ENSP00000360660:p.Gly89fs					NPDC1_ENST00000371601.4_Frame_Shift_Del_p.G89fs|NPDC1_ENST00000488145.1_5'UTR	p.G167fs			Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1172	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	89			Pro/Ser/Thr-rich.		Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Frame_Shift_Del	DEL	ENST00000371601.4	37	c.500delG	CCDS7024.1																																																																																				0.687	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		4	3						4	3	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:890939delT	ENST00000316157.3	-	5	527	c.487delA	c.(487-489)acafs	p.T163fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AATTCCAATGTTTTTTTAAGT	0.353																																						ENST00000316157.3																			1	Substitution - Missense(1)	p.T163P(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(487-489)cafs		La ribonucleoprotein domain family, member 4B							127.0	120.0	122.0					10																	890939		2203	4300	6503	SO:0001589	frameshift_variant	23185						nucleotide binding|RNA binding	g.chr10:890939delT	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.487delA	10.37:g.890939delT	ENSP00000326128:p.Thr163fs						p.T163fs	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			5	527	-			163			HTH La-type RNA-binding.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Del	DEL	ENST00000316157.3	37	c.487delA	CCDS31131.1																																																																																				0.353	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		52	64						52	64	---	---	---	---
RBM17	84991	broad.mit.edu	37	10	6139070	6139070	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:6139070delA	ENST00000446108.1	+	2	686	c.42delA	c.(40-42)tcafs	p.S14fs	RBM17_ENST00000379888.4_Frame_Shift_Del_p.S14fs	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	14					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCAGTGACTCAAAAACAGAAG	0.463																																						ENST00000446108.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						c.(40-42)tcfs		RNA binding motif protein 17							105.0	105.0	105.0					10																	6139070		2203	4300	6503	SO:0001589	frameshift_variant	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6139070delA	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.42delA	10.37:g.6139070delA	ENSP00000388638:p.Ser14fs					RBM17_ENST00000379888.4_Frame_Shift_Del_p.S14fs	p.S14fs	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN			2	686	+			14					Q96GY6	Frame_Shift_Del	DEL	ENST00000446108.1	37	c.42delA	CCDS7077.1																																																																																				0.463	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		54	127						54	127	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24832391	24832391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:24832391delG	ENST00000376454.3	+	19	4222	c.4192delG	c.(4192-4194)gggfs	p.G1398fs	KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376451.2_Frame_Shift_Del_p.G1081fs	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1398					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCTTTCCAGTGGGGAGGTGCA	0.458																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(3241-3243)ggfs		KIAA1217							92.0	91.0	92.0					10																	24832391		2203	4300	6503	SO:0001589	frameshift_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832391delG	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4192delG	10.37:g.24832391delG	ENSP00000365637:p.Gly1398fs					KIAA1217_ENST00000376454.3_Frame_Shift_Del_p.G1398fs|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron	p.G1081fs			Q5T5P2	SKT_HUMAN			14	3501	+			1398					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Del	DEL	ENST00000376454.3	37	c.3241delG	CCDS31165.1																																																																																				0.458	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		41	54						41	54	---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24874838	24874838	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:24874838delT	ENST00000396432.2	-	26	4866	c.4380delA	c.(4378-4380)aaafs	p.K1460fs		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1459					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCTCACTTTCTTTTTTGGACT	0.393																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4378-4380)aafs		Rho GTPase activating protein 21							147.0	145.0	146.0					10																	24874838		2203	4297	6500	SO:0001589	frameshift_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874838delT	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4380delA	10.37:g.24874838delT	ENSP00000379709:p.Lys1460fs						p.K1460fs	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			26	4866	-			1459					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Del	DEL	ENST00000396432.2	37	c.4380delA	CCDS7144.2																																																																																				0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		70	129						70	129	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25861746	25861746	+	Frame_Shift_Del	DEL	G	G	-	rs138208272		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:25861746delG	ENST00000376351.3	+	7	2042	c.1683delG	c.(1681-1683)cagfs	p.Q561fs		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	561					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTATTGGCCAGGGGAAAACAT	0.453																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(1681-1683)cafs		G protein-coupled receptor 158							192.0	143.0	159.0					10																	25861746		2203	4300	6503	SO:0001589	frameshift_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25861746delG	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1683delG	10.37:g.25861746delG	ENSP00000365529:p.Gln561fs						p.Q561fs	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			7	2042	+			561					Q6QR81|Q9ULT3	Frame_Shift_Del	DEL	ENST00000376351.3	37	c.1683delG	CCDS31166.1																																																																																				0.453	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		24	41						24	41	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27702951	27702951	+	Frame_Shift_Del	DEL	G	G	-	rs570928509	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:27702951delG	ENST00000438700.3	-	1	346	c.229delC	c.(229-231)cggfs	p.R77fs		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	77					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATCGACGGCCGGGGGGGTGCA	0.716													?|GGGGGGG|GGGGGG|unsure	4	0.000798722	0.0023	0.0014	5008	,	,		10313	0.0		0.0	False		,,,				2504	0.0					ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(229-231)ggfs		patched domain containing 3				18,29,4159		0,0,18,2,25,2058	23.0	30.0	28.0			-4.6	0.0	10		28	14,53,8073		0,0,14,0,53,4003	no	codingComplex	PTCHD3	NM_001034842.3		0,0,32,2,78,6061	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8231,1.1175,0.9234			27702951	32,82,12232	2191	4279	6470	SO:0001589	frameshift_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702951delG	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.229delC	10.37:g.27702951delG	ENSP00000417658:p.Arg77fs						p.R77fs	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	346	-			77					I3L499|Q6ZU28	Frame_Shift_Del	DEL	ENST00000438700.3	37	c.229delC	CCDS31173.1																																																																																				0.716	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		7	99						7	99	---	---	---	---
GLUD1P2	100381203	broad.mit.edu	37	10	48980053	48980053	+	RNA	DEL	A	A	-	rs531900667	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:48980053delA	ENST00000594520.1	+	0	864									glutamate dehydrogenase 1 pseudogene 2																		aaaattatacaaaaaaaaaaG	0.443													|||unknown(HR)	7	0.00139776	0.0023	0.0014	5008	,	,		18299	0.002		0.001	False		,,,				2504	0.0					ENST00000594520.1																			0																																																			0							g.chr10:48980053delA	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48980053delA														0	864	+									RNA	DEL	ENST00000594520.1	37																																																																																						0.443	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		4	5						4	5	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61831290	61831290	+	Frame_Shift_Del	DEL	T	T	-	rs28932171	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:61831290delT	ENST00000280772.2	-	37	9540	c.9349delA	c.(9349-9351)atcfs	p.I3118fs	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3118					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGACTTATGATTTTTTTTACA	0.403																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9349-9351)tcfs		ankyrin 3, node of Ranvier (ankyrin G)							144.0	152.0	150.0					10																	61831290		2203	4300	6503	SO:0001589	frameshift_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831290delT	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9349delA	10.37:g.61831290delT	ENSP00000280772:p.Ile3118fs					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.I3118fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9540	-			3118					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	ENST00000280772.2	37	c.9349delA	CCDS7258.1																																																																																				0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		78	187						78	187	---	---	---	---
C10orf54	64115	broad.mit.edu	37	10	73511467	73511467	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:73511467delG	ENST00000394957.3	-	6	914	c.856delC	c.(856-858)ctgfs	p.L286fs	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	286					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGAGGAGACAGGGGGGTGCTG	0.617																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(856-858)tgfs		chromosome 10 open reading frame 54							43.0	47.0	45.0					10																	73511467		2203	4300	6503	SO:0001589	frameshift_variant	64115					integral to membrane	receptor activity	g.chr10:73511467delG	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.856delC	10.37:g.73511467delG	ENSP00000378409:p.Leu286fs					CDH23_ENST00000224721.6_Intron	p.L286fs	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN			6	914	-			286					A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Frame_Shift_Del	DEL	ENST00000394957.3	37	c.856delC	CCDS31218.1																																																																																				0.617	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		29	72						29	72	---	---	---	---
MYOZ1	58529	broad.mit.edu	37	10	75393728	75393728	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:75393728delT	ENST00000359322.4	-	5	962	c.598delA	c.(598-600)atgfs	p.M200fs	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CCAAGTTCCATTTTTTGCTGG	0.517																																						ENST00000359322.4																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12						c.(598-600)tgfs		myozenin 1							133.0	126.0	128.0					10																	75393728		2203	4300	6503	SO:0001589	frameshift_variant	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75393728delT	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.598delA	10.37:g.75393728delT	ENSP00000352272:p.Met200fs						p.M200fs	NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN			5	962	-	Prostate(51;0.0112)		200						Frame_Shift_Del	DEL	ENST00000359322.4	37	c.598delA	CCDS7330.1																																																																																				0.517	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			47	141						47	141	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89717674	89717675	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:89717674_89717675insC	ENST00000371953.3	+	7	2056_2057	c.699_700insC	c.(700-702)cggfs	p.R234fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	234	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		R -> Q (in a patient with glioma and meningioma; not capable of inducing apoptosis; induced increased cell proliferation; led to high constitutive AKT1 activation which could not be increased further by stimulation with insulin).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.R234fs*11(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R234fs*24(1)|p.G165_*404del(1)|p.?(1)|p.R234fs*10(1)|p.R233fs*10(1)|p.R234fs*27(1)|p.R234W(1)|p.R234fs*23(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R234fs*3(1)|p.R234fs*26(1)|p.R234fs*4(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACCCACACGACGGGAAGACAA	0.416		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		62	Whole gene deletion(37)|Deletion - Frameshift(10)|Insertion - Frameshift(6)|Complex - frameshift(6)|Deletion - In frame(1)|Unknown(1)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.R234fs*11(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R234fs*24(1)|p.G165_*404del(1)|p.?(1)|p.R234fs*10(1)|p.R233fs*10(1)|p.R234fs*27(1)|p.R234W(1)|p.R234fs*23(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R234fs*3(1)|p.R234fs*26(1)|p.R234fs*4(1)	haematopoietic_and_lymphoid_tissue(16)|prostate(16)|central_nervous_system(10)|skin(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|vulva(1)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(697-702)cggggafs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717674_89717675insC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.700dupC	10.37:g.89717675_89717675dupC	ENSP00000361021:p.Arg234fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.RG233fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2056_2057	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.699_700insC	CCDS31238.1																																																																																				0.416	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		43	112						43	112	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		66	141						66	141	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106976790	106976790	+	Frame_Shift_Del	DEL	G	G	-	rs369131118		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:106976790delG	ENST00000369701.3	+	19	2871	c.2644delG	c.(2644-2646)gtgfs	p.V882fs	SORCS3_ENST00000369699.4_Frame_Shift_Del_p.V168fs	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	882	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATCAAGCACGTGTATAAGAG	0.517																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2644-2646)tgfs		sortilin-related VPS10 domain containing receptor 3							179.0	138.0	152.0					10																	106976790		2203	4300	6503	SO:0001589	frameshift_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976790delG	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2644delG	10.37:g.106976790delG	ENSP00000358715:p.Val882fs					SORCS3_ENST00000369699.4_Frame_Shift_Del_p.V168fs	p.V882fs	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2871	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	882			PKD.		Q5VXF9|Q9NQJ2	Frame_Shift_Del	DEL	ENST00000369701.3	37	c.2644delG	CCDS7558.1																																																																																				0.517	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		32	76						32	76	---	---	---	---
ADRA2A	150	broad.mit.edu	37	10	112837856	112837856	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:112837856delG	ENST00000280155.2	+	1	1067	c.102delG	c.(100-102)ccgfs	p.P34fs		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	19					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.G22fs*>430(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCGAggcgccggggggcggcg	0.726																																					Esophageal Squamous(173;605 2658 7278 49362)	ENST00000280155.2																			1	Insertion - Frameshift(1)	p.G22fs*>430(1)	large_intestine(1)	breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(100-102)ccfs		adrenoceptor alpha 2A	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)			15,4101		0,15,2043	8.0	9.0	9.0			3.7	1.0	10		8	36,7974		1,34,3970	no	frameshift	ADRA2A	NM_000681.3		1,49,6013	A1A1,A1R,RR		0.4494,0.3644,0.4206			112837856	51,12075	2149	4208	6357	SO:0001589	frameshift_variant	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112837856delG	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.102delG	10.37:g.112837856delG	ENSP00000280155:p.Pro34fs						p.P34fs	NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	1067	+		Breast(234;0.0735)|Lung NSC(174;0.238)	19					B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Frame_Shift_Del	DEL	ENST00000280155.2	37	c.102delG	CCDS7569.2																																																																																				0.726	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		5	10						5	10	---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114900983	114900984	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:114900983_114900984insC	ENST00000355995.4	+	6	1100_1101	c.593_594insC	c.(592-597)caccccfs	p.HP198fs	TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000536810.1_Frame_Shift_Ins_p.HP198fs|TCF7L2_ENST00000538897.1_Frame_Shift_Ins_p.HP198fs|TCF7L2_ENST00000534894.1_Frame_Shift_Ins_p.HP198fs|TCF7L2_ENST00000369397.4_Frame_Shift_Ins_p.HP175fs|TCF7L2_ENST00000545257.1_Frame_Shift_Ins_p.HP198fs|TCF7L2_ENST00000355717.4_Frame_Shift_Ins_p.HP222fs|TCF7L2_ENST00000369395.1_Frame_Shift_Ins_p.HP223fs|TCF7L2_ENST00000369389.1_5'Flank|TCF7L2_ENST00000352065.5_Frame_Shift_Ins_p.HP175fs|TCF7L2_ENST00000349937.2_Frame_Shift_Ins_p.HP198fs|TCF7L2_ENST00000543371.1_Frame_Shift_Ins_p.HP198fs			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	198	Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CACCATGTCCACCCCCTCACGC	0.569			T	VTI1A	colorectal																																	ENST00000355995.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(592-594)cccfs		transcription factor 7-like 2 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114900983_114900984insC	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.598dupC	10.37:g.114900988_114900988dupC	ENSP00000348274:p.His198fs					TCF7L2_ENST00000349937.2_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000543371.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000352065.5_Frame_Shift_Ins_p.P175fs|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000355717.4_Frame_Shift_Ins_p.P222fs|TCF7L2_ENST00000536810.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000538897.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000369395.1_Frame_Shift_Ins_p.P223fs|TCF7L2_ENST00000534894.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000369397.4_Frame_Shift_Ins_p.P175fs|TCF7L2_ENST00000545257.1_Frame_Shift_Ins_p.P198fs	p.P198fs			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	6	1100_1101	+		Breast(234;0.058)|Colorectal(252;0.0615)	198			Pro-rich.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Frame_Shift_Ins	INS	ENST00000355995.4	37	c.593_594insC																																																																																					0.569	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		43	140						43	140	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117226764	117226765	+	Splice_Site	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:117226764_117226765insA	ENST00000355044.3	+	23	3622		c.e23+2		ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTTCAACAGGTAAAAAAATGTT	0.287																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.e23+2		attractin-like 1																																				SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:117226764_117226765insA	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3496+2->A	10.37:g.117226771_117226771dupA						ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Intron		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	23	3622	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)						O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	INS	ENST00000355044.3	37		CCDS7592.1																																																																																				0.287	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Intron	14	37						14	37	---	---	---	---
RAB11FIP2	22841	broad.mit.edu	37	10	119768725	119768725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:119768725delG	ENST00000355624.3	-	5	1762	c.1323delC	c.(1321-1323)cccfs	p.P441fs	RAB11FIP2_ENST00000476207.1_5'UTR|RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.P461fs	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	441	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TGGCATCAAAGGGGTTGCTGT	0.428																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1321-1323)ccfs		RAB11 family interacting protein 2 (class I)							87.0	83.0	84.0					10																	119768725		2203	4299	6502	SO:0001589	frameshift_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119768725delG	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1323delC	10.37:g.119768725delG	ENSP00000347839:p.Pro441fs					RAB11FIP2_ENST00000476207.1_5'UTR|RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.P461fs	p.P441fs	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	5	1762	-		Colorectal(252;0.235)	441			FIP-RBD.		A6NEI4|Q3I768|Q9Y2F0	Frame_Shift_Del	DEL	ENST00000355624.3	37	c.1323delC	CCDS7602.1																																																																																				0.428	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		11	155						11	155	---	---	---	---
PWWP2B	170394	broad.mit.edu	37	10	134218255	134218255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:134218255delC	ENST00000305233.5	+	2	310	c.251delC	c.(250-252)tccfs	p.S84fs	PWWP2B_ENST00000368609.4_Frame_Shift_Del_p.S84fs	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	84										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGGTCCAGCTCCCCCCCTCCT	0.746																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(250-252)tcfs		PWWP domain containing 2B							30.0	34.0	33.0					10																	134218255		2127	4239	6366	SO:0001589	frameshift_variant	170394							g.chr10:134218255delC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.251delC	10.37:g.134218255delC	ENSP00000306324:p.Ser84fs					PWWP2B_ENST00000368609.4_Frame_Shift_Del_p.S84fs	p.S84fs	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	310	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	84					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Frame_Shift_Del	DEL	ENST00000305233.5	37	c.251delC	CCDS7667.2																																																																																				0.746	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		7	123						7	123	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46912011	46912011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:46912011delG	ENST00000378623.1	-	14	1974	c.1732delC	c.(1732-1734)cgtfs	p.R578fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	578					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCCTCAATACGGGGGGTGTTG	0.542											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1732-1734)gtfs		low density lipoprotein receptor-related protein 4							38.0	37.0	37.0					11																	46912011		2201	4299	6500	SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46912011delG	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1732delC	11.37:g.46912011delG	ENSP00000367888:p.Arg578fs		OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942		p.R578fs	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	14	1974	-			578					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Del	DEL	ENST00000378623.1	37	c.1732delC	CCDS31478.1																																																																																				0.542	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		13	35						13	35	---	---	---	---
PACSIN3	29763	broad.mit.edu	37	11	47200457	47200457	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:47200457delG	ENST00000539589.1	-	9	1367	c.1025delC	c.(1024-1026)ccgfs	p.P342fs	PACSIN3_ENST00000298838.6_Frame_Shift_Del_p.P342fs|ARFGAP2_ENST00000319543.6_5'Flank|ARFGAP2_ENST00000419701.2_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	342					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						TGGGGACCCCGGGGACTGGGG	0.602																																						ENST00000539589.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(1024-1026)cgfs		protein kinase C and casein kinase substrate in neurons 3							46.0	50.0	48.0					11																	47200457		2201	4298	6499	SO:0001589	frameshift_variant	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47200457delG	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.1025delC	11.37:g.47200457delG	ENSP00000440945:p.Pro342fs					PACSIN3_ENST00000298838.6_Frame_Shift_Del_p.P342fs	p.P342fs	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN			9	1367	-			342					A6NH84|Q9H331|Q9NWV9	Frame_Shift_Del	DEL	ENST00000539589.1	37	c.1025delC	CCDS31481.1																																																																																				0.602	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		28	62						28	62	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432816	55432816	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:55432816delT	ENST00000314259.3	+	1	203	c.174delT	c.(172-174)tatfs	p.Y58fs		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CACCTATGTATTTTTTTCTTA	0.423																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(172-174)tafs		olfactory receptor, family 4, subfamily C, member 6							296.0	260.0	272.0					11																	55432816		2200	4296	6496	SO:0001589	frameshift_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432816delT	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.174delT	11.37:g.55432816delT	ENSP00000324769:p.Tyr58fs						p.Y58fs	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	203	+			58					B2RP11|Q6IFD2	Frame_Shift_Del	DEL	ENST00000314259.3	37	c.174delT	CCDS31506.1																																																																																				0.423	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		57	92						57	92	---	---	---	---
DTX4	23220	broad.mit.edu	37	11	58958609	58958609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:58958609delA	ENST00000227451.3	+	5	1286	c.1182delA	c.(1180-1182)ctafs	p.L394fs	DTX4_ENST00000532982.1_Frame_Shift_Del_p.L288fs|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	394					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K290fs*34(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				AGGAAGTGCTAAAAAAATATC	0.502																																						ENST00000227451.3																			1	Deletion - Frameshift(1)	p.K290fs*34(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1180-1182)ctfs		deltex homolog 4 (Drosophila)							38.0	37.0	37.0					11																	58958609		1886	4085	5971	SO:0001589	frameshift_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58958609delA	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1182delA	11.37:g.58958609delA	ENSP00000227451:p.Leu394fs					DTX4_ENST00000532982.1_Frame_Shift_Del_p.L288fs|DTX4_ENST00000531902.1_3'UTR	p.L394fs	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			5	1286	+		all_epithelial(135;0.125)	394					Q0VF38	Frame_Shift_Del	DEL	ENST00000227451.3	37	c.1182delA	CCDS44612.1																																																																																				0.502	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		5	5						5	5	---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:71948748delC	ENST00000298229.2	+	26	3664	c.3460delC	c.(3460-3462)cccfs	p.P1155fs	INPPL1_ENST00000538751.1_Frame_Shift_Del_p.P913fs|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Frame_Shift_Del_p.P913fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1155					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGAGCTGCAGCCCCCCCGGGG	0.697																																						ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2734-2736)ccfs		inositol polyphosphate phosphatase-like 1							10.0	12.0	12.0					11																	71948748		2120	4190	6310	SO:0001589	frameshift_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71948748delC	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3460delC	11.37:g.71948748delC	ENSP00000298229:p.Pro1155fs					INPPL1_ENST00000298229.2_Frame_Shift_Del_p.P1155fs|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.P913fs	p.P913fs			O15357	SHIP2_HUMAN			26	3664	+			1155					B2RTX5|Q13577|Q13578	Frame_Shift_Del	DEL	ENST00000298229.2	37	c.2734delC	CCDS8213.1																																																																																				0.697	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		12	35						12	35	---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71948755	71948755	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:71948755delG	ENST00000298229.2	+	26	3671	c.3467delG	c.(3466-3468)cggfs	p.R1156fs	INPPL1_ENST00000538751.1_Frame_Shift_Del_p.R914fs|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Frame_Shift_Del_p.R914fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1156					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGCCCCCCCGGGGACTGCCC	0.697																																						ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2740-2742)cgfs		inositol polyphosphate phosphatase-like 1							10.0	12.0	11.0					11																	71948755		2129	4210	6339	SO:0001589	frameshift_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71948755delG	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3467delG	11.37:g.71948755delG	ENSP00000298229:p.Arg1156fs					INPPL1_ENST00000298229.2_Frame_Shift_Del_p.R1156fs|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.R914fs	p.R914fs			O15357	SHIP2_HUMAN			26	3671	+			1156					B2RTX5|Q13577|Q13578	Frame_Shift_Del	DEL	ENST00000298229.2	37	c.2741delG	CCDS8213.1																																																																																				0.697	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		16	29						16	29	---	---	---	---
RNF169	254225	broad.mit.edu	37	11	74554923	74554923	+	IGR	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:74554923delG	ENST00000299563.4	+	0	7823				XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000340360.6_Frame_Shift_Del_p.R701fs|XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R426fs|RN7SL239P_ENST00000490061.2_RNA	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GTAATGTTCCGGGGATCCCGC	0.557																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(2101-2103)ggfs		X-ray radiation resistance associated 1							85.0	92.0	90.0					11																	74554923		1931	4124	6055	SO:0001628	intergenic_variant	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74554923delG	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74554923delG						XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R426fs|XRRA1_ENST00000527087.1_Intron	p.R701fs	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			18	2432	-			701					Q6N015	Frame_Shift_Del	DEL	ENST00000299563.4	37	c.2101delC	CCDS41691.1																																																																																				0.557	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		11	14						11	14	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89403521	89403522	+	RNA	INS	-	-	T	rs566310014|rs370122765	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:89403521_89403522insT	ENST00000532352.1	+	0	908							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTTTGTTTTGTTTTTTTTCAA	0.332													?|TTTTTTTT|TTTTTTTTT|unsure	3	0.000599042	0.0	0.0014	5008	,	,		20450	0.0		0.0	False		,,,				2504	0.002					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B				3,4261		0,3,2129							0.0			57	8,8246		0,8,4119	no	intron	FOLH1B	NM_153696.2		0,11,6248	A1A1,A1R,RR		0.0969,0.0704,0.0879				11,12507						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89403521_89403522insT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89403529_89403529dupT										Q9HBA9	FOH1B_HUMAN			0	908	+									RNA	INS	ENST00000532352.1	37																																																																																						0.332	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		9	20						9	20	---	---	---	---
CEP57	9702	broad.mit.edu	37	11	95552024	95552026	+	In_Frame_Del	DEL	GAA	GAA	-	rs142615007		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:95552024_95552026delGAA	ENST00000325542.5	+	6	893_895	c.655_657delGAA	c.(655-657)gaadel	p.E221del	CEP57_ENST00000538658.1_In_Frame_Del_p.E221del|CEP57_ENST00000325486.5_In_Frame_Del_p.E221del|CEP57_ENST00000537677.1_In_Frame_Del_p.E194del|CEP57_ENST00000541150.1_In_Frame_Del_p.E212del	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	221	centrosome localization domain (CLD). {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAACTCCATGAAGAAGAACAGG	0.345									Mosaic Variegated Aneuploidy Syndrome																													ENST00000325542.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(655-657)del		centrosomal protein 57kDa																																				SO:0001651	inframe_deletion	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95552024_95552026delGAA	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.655_657delGAA	11.37:g.95552030_95552032delGAA	ENSP00000317902:p.Glu221del					CEP57_ENST00000537677.1_In_Frame_Del_p.E194del|CEP57_ENST00000325486.5_In_Frame_Del_p.E221del|CEP57_ENST00000541150.1_In_Frame_Del_p.E212del|CEP57_ENST00000538658.1_In_Frame_Del_p.E221del	p.E221del	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN			6	893_895	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	221			centrosome localization domain (CLD) (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	In_Frame_Del	DEL	ENST00000325542.5	37	c.655_657delGAA	CCDS8304.1																																																																																				0.345	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		23	37						23	37	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120983885	120983885	+	Frame_Shift_Del	DEL	C	C	-	rs562490470		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:120983885delC	ENST00000392793.1	+	5	862	c.591delC	c.(589-591)gacfs	p.D197fs	TECTA_ENST00000264037.2_Frame_Shift_Del_p.D197fs			O75443	TECTA_HUMAN	tectorin alpha	197	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.		D -> N (in DFNA12). {ECO:0000269|PubMed:21520338}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGGCGGCGACCCCCTGACAG	0.582											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(589-591)gafs		tectorin alpha							69.0	68.0	68.0					11																	120983885		2203	4299	6502	SO:0001589	frameshift_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120983885delC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.591delC	11.37:g.120983885delC	ENSP00000376543:p.Asp197fs		OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1508	TECTA_ENST00000264037.2_Frame_Shift_Del_p.D197fs	p.D197fs			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	5	862	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	197			NIDO.			Frame_Shift_Del	DEL	ENST00000392793.1	37	c.591delC	CCDS8434.1																																																																																				0.582	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		40	75						40	75	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2614074	2614074	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:2614074delT	ENST00000347598.4	+	8	1180	c.1180delT	c.(1180-1182)tttfs	p.F395fs	CACNA1C_ENST00000327702.7_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399644.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000480911.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399637.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399591.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399655.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399601.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399629.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.F395fs	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	395					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATAGGGTCATTTTTTGTACT	0.403																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1180-1182)ttfs		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						116.0	114.0	114.0					12																	2614074		1916	4144	6060	SO:0001589	frameshift_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2614074delT	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1180delT	12.37:g.2614074delT	ENSP00000266376:p.Phe395fs					CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399591.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000480911.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000347598.4_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399644.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399601.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399629.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000327702.7_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399637.1_Frame_Shift_Del_p.F395fs	p.F395fs	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	8	1445	+			395					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Frame_Shift_Del	DEL	ENST00000347598.4	37	c.1180delT	CCDS44788.1																																																																																				0.403	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		18	26						18	26	---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19427544	19427545	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:19427544_19427545insA	ENST00000299275.6	+	10	928_929	c.922_923insA	c.(922-924)caafs	p.Q308fs	PLEKHA5_ENST00000429027.2_Frame_Shift_Ins_p.Q314fs|PLEKHA5_ENST00000359180.3_Frame_Shift_Ins_p.Q308fs|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000543806.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_ENST00000539256.1_Frame_Shift_Ins_p.Q66fs|PLEKHA5_ENST00000424268.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_ENST00000355397.3_Frame_Shift_Ins_p.Q308fs|PLEKHA5_ENST00000317589.4_Frame_Shift_Ins_p.Q308fs|PLEKHA5_ENST00000309364.4_Frame_Shift_Ins_p.Q308fs|PLEKHA5_ENST00000538714.1_Frame_Shift_Ins_p.Q308fs	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	308					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCAAAACAATCAAAAAAACAAG	0.327																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(922-924)aaafs		pleckstrin homology domain containing, family A member 5																																				SO:0001589	frameshift_variant	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19427544_19427545insA	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.929dupA	12.37:g.19427551_19427551dupA	ENSP00000299275:p.Gln308fs					PLEKHA5_ENST00000317589.4_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000355397.3_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000299275.6_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000543806.1_Frame_Shift_Ins_p.K200fs|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000424268.1_Frame_Shift_Ins_p.K200fs|PLEKHA5_ENST00000429027.2_Frame_Shift_Ins_p.K314fs|PLEKHA5_ENST00000359180.3_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000309364.4_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000539256.1_Frame_Shift_Ins_p.K66fs	p.K308fs	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			10	926_927	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		308					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Frame_Shift_Ins	INS	ENST00000299275.6	37	c.922_923insA	CCDS8682.1																																																																																				0.327	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		23	29						23	29	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39745622	39745623	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:39745622_39745623insT	ENST00000361418.5	-	11	1644_1645	c.1629_1630insA	c.(1627-1632)aaagatfs	p.D544fs	KIF21A_ENST00000395670.3_Frame_Shift_Ins_p.D544fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.D544fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.D544fs|KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.D544fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	544					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTCTAAATCTTTTTTTGCTA	0.337																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1627-1632)aaatttfs		kinesin family member 21A																																				SO:0001589	frameshift_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39745622_39745623insT	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1630dupA	12.37:g.39745629_39745629dupT	ENSP00000354878:p.Asp544fs					KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.F544fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.F544fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.F544fs|KIF21A_ENST00000361418.5_Frame_Shift_Ins_p.F544fs	p.F544fs			Q7Z4S6	KI21A_HUMAN			11	2048_2049	-		Lung NSC(34;0.179)|all_lung(34;0.213)	544					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Frame_Shift_Ins	INS	ENST00000361418.5	37	c.1629_1630insA	CCDS53776.1																																																																																				0.337	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		32	44						32	44	---	---	---	---
HDAC7	51564	broad.mit.edu	37	12	48181527	48181527	+	Frame_Shift_Del	DEL	G	G	-	rs577738209		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:48181527delG	ENST00000427332.2	-	21	2460	c.2304delC	c.(2302-2304)cccfs	p.P768fs	HDAC7_ENST00000080059.7_Frame_Shift_Del_p.P807fs|HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000354334.3_Frame_Shift_Del_p.P770fs|HDAC7_ENST00000552960.1_Frame_Shift_Del_p.P790fs|HDAC7_ENST00000380610.4_Frame_Shift_Del_p.P824fs			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	768	Histone deacetylase.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GATCCCCCATGGGGGGGTCCA	0.622																																						ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2419-2421)ccfs		histone deacetylase 7							26.0	28.0	27.0					12																	48181527		2202	4300	6502	SO:0001589	frameshift_variant	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48181527delG	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.2304delC	12.37:g.48181527delG	ENSP00000404394:p.Pro768fs					HDAC7_ENST00000354334.3_Frame_Shift_Del_p.P770fs|HDAC7_ENST00000427332.2_Frame_Shift_Del_p.P768fs|HDAC7_ENST00000380610.4_Frame_Shift_Del_p.P824fs|HDAC7_ENST00000552960.1_Frame_Shift_Del_p.P790fs	p.P807fs	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	21	2420	-			768			Histone deacetylase.		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Frame_Shift_Del	DEL	ENST00000427332.2	37	c.2421delC																																																																																					0.622	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			11	9						11	9	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49434073	49434074	+	Frame_Shift_Ins	INS	-	-	C	rs10747559	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49434073_49434074insC	ENST00000301067.7	-	31	7478_7479	c.7479_7480insG	c.(7477-7482)gggttcfs	p.F2494fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2494	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTGCTGGGAACCCCCCAGCCC	0.653																																						ENST00000301067.7																			0											c.(7477-7482)ggtcccfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49434073_49434074insC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7480dupG	12.37:g.49434079_49434079dupC	ENSP00000301067:p.Phe2494fs						p.P2494fs	NM_003482.3	NP_003473.3					31	7478_7479	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.7479_7480insG	CCDS44873.1																																																																																				0.653	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			25	64						25	64	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49440431	49440431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49440431delG	ENST00000301067.7	-	15	4378	c.4379delC	c.(4378-4380)ccafs	p.P1460fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1460	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGTGAGCAGTGGGGGGTCCAG	0.562																																						ENST00000301067.7																			0											c.(4378-4380)cafs		lysine (K)-specific methyltransferase 2D							95.0	101.0	99.0					12																	49440431		2046	4184	6230	SO:0001589	frameshift_variant	8085							g.chr12:49440431delG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4379delC	12.37:g.49440431delG	ENSP00000301067:p.Pro1460fs						p.P1460fs	NM_003482.3	NP_003473.3					15	4378	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.4379delC	CCDS44873.1																																																																																				0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			52	123						52	123	---	---	---	---
RNF41	10193	broad.mit.edu	37	12	56600292	56600293	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:56600292_56600293insC	ENST00000345093.4	-	7	1261_1262	c.892_893insG	c.(892-894)gatfs	p.D298fs	RNF41_ENST00000394013.2_Frame_Shift_Ins_p.D227fs|RNF41_ENST00000552656.1_Frame_Shift_Ins_p.D298fs	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	298					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CACCATGTCATCCCCCATGTGC	0.515											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000345093.4																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						c.(892-894)tgafs		ring finger protein 41																																				SO:0001589	frameshift_variant	10193				apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:56600292_56600293insC	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.893dupG	12.37:g.56600297_56600297dupC	ENSP00000342755:p.Asp298fs		OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	RNF41_ENST00000394013.2_Frame_Shift_Ins_p.*227fs|RNF41_ENST00000552656.1_Frame_Shift_Ins_p.*298fs	p.*298fs	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN			7	1261_1262	-			298					A6NFW0|B2RBT8|O75598	Frame_Shift_Ins	INS	ENST00000345093.4	37	c.892_893insG	CCDS8909.1																																																																																				0.515	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408525.1	NM_005785		128	143						128	143	---	---	---	---
MDM1	56890	broad.mit.edu	37	12	68724964	68724964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:68724964delT	ENST00000303145.7	-	2	142	c.56delA	c.(55-57)aagfs	p.K19fs	MDM1_ENST00000411698.2_Frame_Shift_Del_p.K19fs|MDM1_ENST00000430606.2_Frame_Shift_Del_p.K19fs|MDM1_ENST00000393543.3_Frame_Shift_Del_p.K19fs|MDM1_ENST00000540418.1_5'UTR|RP11-81H14.2_ENST00000541707.1_lincRNA|MDM1_ENST00000545724.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	19					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CAAATAAGACTTTTTCCACAG	0.423																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(55-57)agfs		Mdm1 nuclear protein homolog (mouse)							124.0	126.0	125.0					12																	68724964		2203	4300	6503	SO:0001589	frameshift_variant	56890					nucleus		g.chr12:68724964delT	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.56delA	12.37:g.68724964delT	ENSP00000302537:p.Lys19fs					MDM1_ENST00000393543.3_Frame_Shift_Del_p.K19fs|MDM1_ENST00000411698.2_Frame_Shift_Del_p.K19fs|MDM1_ENST00000430606.2_Frame_Shift_Del_p.K19fs|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'UTR	p.K19fs	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	2	142	-			19					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Frame_Shift_Del	DEL	ENST00000303145.7	37	c.56delA	CCDS8983.1																																																																																				0.423	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		56	82						56	82	---	---	---	---
SUDS3	64426	broad.mit.edu	37	12	118814517	118814522	+	In_Frame_Del	DEL	GGCCCC	GGCCCC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:118814517_118814522delGGCCCC	ENST00000543473.1	+	1	333_338	c.21_26delGGCCCC	c.(19-27)ctggccccg>ctg	p.AP10del	RP11-131L12.2_ENST00000605329.1_lincRNA|SUDS3_ENST00000397564.2_In_Frame_Del_p.AP10del	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	10	Mediates interaction with USP17L2.				apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGGGCTGCTGGCCCCGGCCCCGGCC	0.743																																						ENST00000543473.1																			0				breast(1)|lung(1)	2						c.(19-27)ctg>ct		suppressor of defective silencing 3 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	64426				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding	g.chr12:118814517_118814522delGGCCCC	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"""sin3A-associated protein, 45kDa"""	608250	"""suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"""			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.21_26delGGCCCC	12.37:g.118814523_118814528delGGCCCC	ENSP00000443988:p.Ala10_Pro11del					SUDS3_ENST00000397564.2_In_Frame_Del_p.LAP7del	p.LAP7del	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN			1	333_338	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		7					Q4KMQ5|Q8N6H0|Q9H8D2	In_Frame_Del	DEL	ENST00000543473.1	37	c.21_26delGGCCCC	CCDS44993.1																																																																																				0.743	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491		5	9						5	9	---	---	---	---
P2RX2	22953	broad.mit.edu	37	12	133196264	133196264	+	Splice_Site	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:133196264delG	ENST00000389110.3	+	3	346		c.e3-1		P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000343948.4_Splice_Site|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000348800.5_Splice_Site|P2RX2_ENST00000350048.5_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2						behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCTGAGCCCAGGGGGGCAGCG	0.756																																						ENST00000389110.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20						c.e3-1		purinergic receptor P2X, ligand-gated ion channel, 2							11.0	14.0	13.0					12																	133196264		2176	4268	6444	SO:0001630	splice_region_variant	0				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133196264delG	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.310-1G>-	12.37:g.133196264delG						P2RX2_ENST00000348800.5_Splice_Site|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000343948.4_Splice_Site|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000449132.2_Intron		NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	3	346	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)						A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Splice_Site	DEL	ENST00000389110.3	37		CCDS31931.1																																																																																				0.756	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1		Intron	25	33						25	33	---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38144790	38144790	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:38144790delT	ENST00000379747.4	-	19	2313	c.2196delA	c.(2194-2196)aaafs	p.K732fs	POSTN_ENST00000379742.4_Frame_Shift_Del_p.K675fs|POSTN_ENST00000379743.4_Frame_Shift_Del_p.K705fs|POSTN_ENST00000379749.4_Frame_Shift_Del_p.K732fs|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000541179.1_Frame_Shift_Del_p.K705fs	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	732					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTTTGGTGTATTTTTTAATAA	0.343																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2194-2196)aafs		periostin, osteoblast specific factor							185.0	174.0	178.0					13																	38144790		2203	4299	6502	SO:0001589	frameshift_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38144790delT	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2196delA	13.37:g.38144790delT	ENSP00000369071:p.Lys732fs					POSTN_ENST00000379749.4_Frame_Shift_Del_p.K732fs|POSTN_ENST00000379743.4_Frame_Shift_Del_p.K705fs|POSTN_ENST00000379742.4_Frame_Shift_Del_p.K675fs|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000541179.1_Frame_Shift_Del_p.K705fs	p.K732fs	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	19	2313	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	732					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Frame_Shift_Del	DEL	ENST00000379747.4	37	c.2196delA	CCDS9364.1																																																																																				0.343	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		32	63						32	63	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46543691	46543691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:46543691delT	ENST00000242848.4	-	14	3336	c.2988delA	c.(2986-2988)aaafs	p.K996fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.K996fs|ZC3H13_ENST00000378921.2_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	996	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTTCTGTCCTTTTTTTGGTG	0.333																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2986-2988)aafs		zinc finger CCCH-type containing 13							133.0	133.0	133.0					13																	46543691		2203	4300	6503	SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46543691delT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2988delA	13.37:g.46543691delT	ENSP00000242848:p.Lys996fs					ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.K996fs|ZC3H13_ENST00000378921.2_5'UTR	p.K996fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	14	3336	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	996			Lys-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.2988delA																																																																																					0.333	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		8	73						8	73	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:77844149delT	ENST00000544440.2	-	7	1141	c.1124delA	c.(1123-1125)aagfs	p.K375fs	MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000407578.2_Frame_Shift_Del_p.K413fs|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACCAAGACTTTTTTTCTTT	0.289																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1237-1239)agfs		MYC binding protein 2, E3 ubiquitin protein ligase							108.0	121.0	117.0					13																	77844149		2203	4295	6498	SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77844149delT	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1124delA	13.37:g.77844149delT	ENSP00000444596:p.Lys375fs					MYCBP2_ENST00000544440.2_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000360084.5_5'UTR	p.K413fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	7	1504	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	375						Frame_Shift_Del	DEL	ENST00000544440.2	37	c.1238delA																																																																																					0.289	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		60	99						60	99	---	---	---	---
FGF14	2259	broad.mit.edu	37	13	103054139	103054139	+	5'Flank	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:103054139delC	ENST00000376131.4	-	0	0				RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATGATTTATCCCCCCTCGAT	0.418																																						ENST00000418923.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr13:103054139delC		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303		13.37:g.103054139delC	Exception_encountered													0	331	-								Q86YN7|Q96QX6	RNA	DEL	ENST00000376131.4	37		CCDS9500.1																																																																																				0.418	FGF14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045680.5			2	4						2	4	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:103524612delA	ENST00000355739.4	+	13	4166	c.2743delA	c.(2743-2745)aaafs	p.K917fs	BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.E1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	917					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCAAAGTGAAAAAAAAATT	0.428			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2743-2745)aafs	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							79.0	77.0	77.0					13																	103524612		2203	4300	6503	SO:0001589	frameshift_variant	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103524612delA	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2743delA	13.37:g.103524612delA	ENSP00000347978:p.Lys917fs					BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs	p.K917fs	NM_000123.3	NP_000114.2					13	4166	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Frame_Shift_Del	DEL	ENST00000355739.4	37	c.2743delA	CCDS32004.1																																																																																				0.428	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			32	35						32	35	---	---	---	---
OR4K13	390433	broad.mit.edu	37	14	20502375	20502375	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:20502375delA	ENST00000315693.2	-	1	544	c.543delT	c.(541-543)cttfs	p.L181fs	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACAAGGGGAAGGTCACAGA	0.483																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(541-543)ctfs		olfactory receptor, family 4, subfamily K, member 13							132.0	124.0	127.0					14																	20502375		2203	4300	6503	SO:0001589	frameshift_variant	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502375delA		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.543delT	14.37:g.20502375delA	ENSP00000319322:p.Leu181fs						p.L181fs	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	544	-	all_cancers(95;0.00108)		181					Q6IF13	Frame_Shift_Del	DEL	ENST00000315693.2	37	c.543delT	CCDS32028.1																																																																																				0.483	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			29	71						29	71	---	---	---	---
TRAV12-3	28672	broad.mit.edu	37	14	22433683	22433684	+	RNA	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:22433683_22433684insT	ENST00000390442.3	+	0	4_5									T cell receptor alpha variable 12-3																		GTTTGTTATTATTTTTTTTTCG	0.351																																						ENST00000390442.3																			0																																																			0							g.chr14:22433683_22433684insT	X06193		14q11.2	2012-02-07			ENSG00000211794	ENSG00000211794		"""T cell receptors / TRA locus"""	12107	other	T cell receptor gene						3501368, 8951372	Standard	NG_001332		Approved	TRAV123, TCRAV2S2, TCRAV12S3			OTTHUMG00000170640		14.37:g.22433692_22433692dupT														0	4_5	+									RNA	INS	ENST00000390442.3	37																																																																																						0.351	TRAV12-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409888.1	NG_001332		16	22						16	22	---	---	---	---
RP11-159L20.2	0	broad.mit.edu	37	14	31291082	31291082	+	RNA	DEL	A	A	-	rs111525555|rs538462736	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:31291082delA	ENST00000554665.1	-	0	208																											AATTAAAAAGAAAAAAAAAAC	0.313														7	0.00139776	0.0008	0.0014	5008	,	,		20855	0.004		0.0	False		,,,				2504	0.001					ENST00000554665.1																			0																																																			0							g.chr14:31291082delA																													14.37:g.31291082delA														0	208	-									RNA	DEL	ENST00000554665.1	37																																																																																						0.313	RP11-159L20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000409699.1			8	4						8	4	---	---	---	---
NKX2-1	7080	broad.mit.edu	37	14	36987157	36987157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:36987157delC	ENST00000518149.1	-	3	1047	c.442delG	c.(442-444)gacfs	p.D148fs	NKX2-1-AS1_ENST00000521292.2_RNA|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Frame_Shift_Del_p.D148fs|NKX2-1_ENST00000498187.2_Frame_Shift_Del_p.D148fs|NKX2-1_ENST00000354822.5_Frame_Shift_Del_p.D178fs			P43699	NKX21_HUMAN	NK2 homeobox 1	148					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TTGCTCACGTCCCCCAGCGAG	0.687			A		NSCLC																																	ENST00000518149.1				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(442-444)acfs		NK2 homeobox 1							18.0	20.0	20.0					14																	36987157		2199	4295	6494	SO:0001589	frameshift_variant	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36987157delC		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.442delG	14.37:g.36987157delC	ENSP00000428341:p.Asp148fs					RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Frame_Shift_Del_p.D148fs|NKX2-1_ENST00000354822.5_Frame_Shift_Del_p.D178fs|NKX2-1_ENST00000522719.2_Frame_Shift_Del_p.D148fs	p.D148fs			P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	3	1047	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		148					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Frame_Shift_Del	DEL	ENST00000518149.1	37	c.442delG	CCDS9659.1																																																																																				0.687	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		13	26						13	26	---	---	---	---
SNAPC1	6617	broad.mit.edu	37	14	62242911	62242911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:62242911delT	ENST00000216294.4	+	5	737	c.633delT	c.(631-633)gatfs	p.D211fs	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	211	SNAPC4-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.D214fs*1(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TAAAGGATGATTTTTTTGACA	0.358																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4																			2	Insertion - Frameshift(2)	p.D214fs*1(2)	large_intestine(1)|ovary(1)	endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13						c.(631-633)gafs		small nuclear RNA activating complex, polypeptide 1, 43kDa							114.0	108.0	110.0					14																	62242911		2203	4300	6503	SO:0001589	frameshift_variant	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62242911delT	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.633delT	14.37:g.62242911delT	ENSP00000216294:p.Asp211fs					RP11-618G20.1_ENST00000555937.1_RNA	p.D211fs	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	5	737	+			211			SNAPC4-binding.			Frame_Shift_Del	DEL	ENST00000216294.4	37	c.633delT	CCDS9755.1																																																																																				0.358	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		19	32						19	32	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72054754	72054755	+	Frame_Shift_Ins	INS	-	-	C	rs12884638	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:72054754_72054755insC	ENST00000555818.1	+	2	513_514	c.165_166insC	c.(166-168)cccfs	p.P56fs	SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.P56fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.P56fs	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	56			P -> T (in dbSNP:rs12884638).		actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCTGTAGGACCCCCCCGAAG	0.535																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(163-168)ggccccfs		signal-induced proliferation-associated 1 like 1																																				SO:0001589	frameshift_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72054754_72054755insC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.172dupC	14.37:g.72054761_72054761dupC	ENSP00000450832:p.Pro56fs					SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.GP55fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.GP55fs	p.GP55fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	513_514	+			55					J3KP19|O95321|Q9UDU4|Q9UNU4	Frame_Shift_Ins	INS	ENST00000555818.1	37	c.165_166insC	CCDS9807.1																																																																																				0.535	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		56	90						56	90	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:74205773delG	ENST00000286523.5	-	2	1721	c.939delC	c.(937-939)cccfs	p.P313fs	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.P313fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	313	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TATCTGGGTTGGGGGGGAAGG	0.662																																						ENST00000286523.5																			0											c.(937-939)ccfs		ELM2 and Myb/SANT-like domain containing 1							21.0	22.0	22.0					14																	74205773		2203	4299	6502	SO:0001589	frameshift_variant	91748							g.chr14:74205773delG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.939delC	14.37:g.74205773delG	ENSP00000286523:p.Pro313fs					ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.P313fs	p.P313fs	NM_194278.3	NP_919254.2					2	1721	-								Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Del	DEL	ENST00000286523.5	37	c.939delC	CCDS9819.1																																																																																				0.662	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		16	20						16	20	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75248388	75248388	+	Frame_Shift_Del	DEL	C	C	-	rs201292705		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:75248388delC	ENST00000552421.1	+	4	1766	c.1642delC	c.(1642-1644)cccfs	p.P549fs	YLPM1_ENST00000325680.7_Frame_Shift_Del_p.P549fs|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCAGTGATGCCCCCTGCCCT	0.577																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(1642-1644)ccfs		YLP motif containing 1							221.0	227.0	225.0					14																	75248388		2113	4205	6318	SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248388delC	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1642delC	14.37:g.75248388delC	ENSP00000447921:p.Pro549fs					YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Del_p.P549fs	p.P549fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	1766	+			356					P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000552421.1	37	c.1642delC																																																																																					0.577	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		26	357						26	357	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103447224	103447224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:103447224delA	ENST00000361246.2	-	8	1314	c.1026delT	c.(1024-1026)tttfs	p.F342fs		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.E343fs*1(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTAGACCTTCAAAAAACGCAT	0.458																																						ENST00000361246.2																			1	Insertion - Frameshift(1)	p.E343fs*1(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1024-1026)ttfs		CDC42 binding protein kinase beta (DMPK-like)							112.0	105.0	107.0					14																	103447224		2203	4300	6503	SO:0001589	frameshift_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103447224delA	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1026delT	14.37:g.103447224delA	ENSP00000355237:p.Phe342fs						p.F342fs	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	8	1314	-		Melanoma(154;0.155)	342			Protein kinase.			Frame_Shift_Del	DEL	ENST00000361246.2	37	c.1026delT	CCDS9978.1																																																																																				0.458	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		45	78						45	78	---	---	---	---
EXOC3L4	91828	broad.mit.edu	37	14	103573972	103573973	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:103573972_103573973delCT	ENST00000380069.3	+	9	1782_1783	c.1706_1707delCT	c.(1705-1707)actfs	p.T569fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	569					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCCCAGGAGACTCTGCAGGAGG	0.703																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(1705-1707)afs		exocyst complex component 3-like 4																																				SO:0001589	frameshift_variant	91828							g.chr14:103573972_103573973delCT	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1706_1707delCT	14.37:g.103573974_103573975delCT	ENSP00000369409:p.Thr569fs						p.T569fs	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN			9	1782_1783	+			569					Q14CR2	Frame_Shift_Del	DEL	ENST00000380069.3	37	c.1706_1707delCT	CCDS32163.1																																																																																				0.703	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		8	14						8	14	---	---	---	---
KIF26A	26153	broad.mit.edu	37	14	104642560	104642560	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:104642560delC	ENST00000423312.2	+	12	3435	c.3435delC	c.(3433-3435)ggcfs	p.G1145fs	KIF26A_ENST00000315264.7_Frame_Shift_Del_p.G1006fs	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1145					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACCCTGGGGGCCCCCCTGCCC	0.711																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(3016-3018)ggfs		kinesin family member 26A							6.0	7.0	7.0					14																	104642560		1736	3817	5553	SO:0001589	frameshift_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642560delC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3435delC	14.37:g.104642560delC	ENSP00000388241:p.Gly1145fs					KIF26A_ENST00000423312.2_Frame_Shift_Del_p.G1145fs	p.G1006fs			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	3396	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1145					Q8TAZ7|Q96GK3|Q9UFL3	Frame_Shift_Del	DEL	ENST00000423312.2	37	c.3018delC	CCDS45171.1																																																																																				0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			10	15						10	15	---	---	---	---
LOC283683	283683	broad.mit.edu	37	15	23114116	23114116	+	RNA	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:23114116delA	ENST00000557922.1	-	0	243					NR_040057.1																						TACATACCCTAAAAAAAAGCC	0.363																																						ENST00000557922.1																			0																																																			0							g.chr15:23114116delA																													15.37:g.23114116delA								NR_040057.1						0	243	-									RNA	DEL	ENST00000557922.1	37																																																																																						0.363	RP11-566K19.6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415896.1			3	6						3	6	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:23331163delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		AATAAATACTAAAAAAAAAAA	0.368																																						ENST00000560464.1																			0																																																			0							g.chr15:23331163delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23331163delA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.368	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			4	2						4	2	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25310193	25310193	+	RNA	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:25310193delA	ENST00000549804.2	+	0	538				SNORD116-5_ENST00000384462.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA|SNORD116-7_ENST00000384404.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TGAGTCCTCCAAAAAAAACAT	0.473																																						ENST00000549804.2																			0																	166,2296		70,26,1135	169.0	153.0	158.0			0.2	0.0	15		156	381,4487		179,23,2232	no	intergenic				249,49,3367	A1A1,A1R,RR		7.8266,6.7425,7.4625			25310193	547,6783	876	1991	2867			0							g.chr15:25310193delA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310193delA						SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA								0	538	+									RNA	DEL	ENST00000549804.2	37																																																																																						0.473	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			43	74						43	74	---	---	---	---
ARHGAP11A	9824	broad.mit.edu	37	15	32916446	32916446	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:32916446delT	ENST00000361627.3	+	4	1092	c.370delT	c.(370-372)tttfs	p.F125fs	ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000563864.1_Frame_Shift_Del_p.F125fs|ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000567348.1_Frame_Shift_Del_p.F125fs	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	125	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TCTTAAGCAGTTTTTTAGGGA	0.398																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(370-372)ttfs		Rho GTPase activating protein 11A							27.0	28.0	28.0					15																	32916446		2199	4275	6474	SO:0001589	frameshift_variant	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32916446delT	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.370delT	15.37:g.32916446delT	ENSP00000355090:p.Phe125fs					ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000567348.1_Frame_Shift_Del_p.F125fs|ARHGAP11A_ENST00000563864.1_Frame_Shift_Del_p.F125fs	p.F125fs	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	4	1092	+		all_lung(180;1.3e-11)	125			Rho-GAP.		B4DZN9|Q6PI96|Q9Y3S6	Frame_Shift_Del	DEL	ENST00000361627.3	37	c.370delT	CCDS10028.1																																																																																				0.398	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		22	19						22	19	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		9	294						9	294	---	---	---	---
RASGRP1	10125	broad.mit.edu	37	15	38795505	38795505	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:38795505delT	ENST00000310803.5	-	11	1573	c.1396delA	c.(1396-1398)accfs	p.T466fs	RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000539159.1_Frame_Shift_Del_p.T418fs|RASGRP1_ENST00000450598.2_Intron|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.T517fs|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000558164.1_Intron	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	466					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TTGCTAATGGTTTTTGGATCA	0.443																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1396-1398)ccfs		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							130.0	120.0	123.0					15																	38795505		1928	4128	6056	SO:0001589	frameshift_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38795505delT	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1396delA	15.37:g.38795505delT	ENSP00000310244:p.Thr466fs					RASGRP1_ENST00000450598.2_Intron|RASGRP1_ENST00000558164.1_Intron|RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.T517fs|RASGRP1_ENST00000539159.1_Frame_Shift_Del_p.T418fs	p.T466fs	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	11	1573	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	466					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Frame_Shift_Del	DEL	ENST00000310803.5	37	c.1396delA	CCDS45222.1																																																																																				0.443	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		12	16						12	16	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62174867	62174868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:62174867_62174868insA	ENST00000261517.5	-	69	9624_9625	c.9551_9552insT	c.(9550-9552)ttafs	p.L3184fs	VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.L3184fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.L3141fs|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.L3141fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAATTCCTGATAAAAAGTCTCG	0.371																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9550-9552)ttcfs		vacuolar protein sorting 13 homolog C (S. cerevisiae)																																				SO:0001589	frameshift_variant	54832				protein localization			g.chr15:62174867_62174868insA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9552dupT	15.37:g.62174872_62174872dupA	ENSP00000261517:p.Leu3184fs					VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.F3141fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.F3141fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.F3184fs	p.F3184fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			69	9624_9625	-			3184						Frame_Shift_Ins	INS	ENST00000261517.5	37	c.9551_9552insT	CCDS32257.1																																																																																				0.371	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		35	49						35	49	---	---	---	---
USP3	9960	broad.mit.edu	37	15	63829242	63829242	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:63829242delA	ENST00000380324.3	+	3	300	c.171delA	c.(169-171)gcafs	p.A57fs	USP3_ENST00000540797.1_Intron|USP3_ENST00000558285.1_Frame_Shift_Del_p.A40fs|USP3_ENST00000536001.1_Frame_Shift_Del_p.A57fs|USP3_ENST00000268049.7_Frame_Shift_Del_p.A35fs|USP3_ENST00000539772.1_Intron	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	57					DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ATGGCCATGCAAAAAAACATT	0.299																																						ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(103-105)gcfs		ubiquitin specific peptidase 3							93.0	78.0	83.0					15																	63829242		2203	4299	6502	SO:0001589	frameshift_variant	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63829242delA	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.171delA	15.37:g.63829242delA	ENSP00000369681:p.Ala57fs					USP3_ENST00000540797.1_Intron|USP3_ENST00000539772.1_Intron|USP3_ENST00000536001.1_Frame_Shift_Del_p.A57fs|USP3_ENST00000380324.3_Frame_Shift_Del_p.A57fs|USP3_ENST00000558285.1_Frame_Shift_Del_p.A40fs	p.A35fs			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	4	429	+			57					B4DVU5|F5H1A6|Q8WVD0	Frame_Shift_Del	DEL	ENST00000380324.3	37	c.105delA	CCDS32265.1																																																																																				0.299	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			10	18						10	18	---	---	---	---
MTFMT	123263	broad.mit.edu	37	15	65312544	65312544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:65312544delC	ENST00000220058.4	-	5	725	c.712delG	c.(712-714)gcgfs	p.A238fs	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	238						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CCGTAAGTCGCCCCCTCCATT	0.408																																						ENST00000220058.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10						c.(712-714)cgfs		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						36.0	40.0	39.0					15																	65312544		1974	4173	6147	SO:0001589	frameshift_variant	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65312544delC	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.712delG	15.37:g.65312544delC	ENSP00000220058:p.Ala238fs						p.A238fs	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN			5	725	-			238					B7Z734	Frame_Shift_Del	DEL	ENST00000220058.4	37	c.712delG	CCDS45280.1																																																																																				0.408	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		19	35						19	35	---	---	---	---
CALML4	91860	broad.mit.edu	37	15	68486389	68486389	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:68486389delA	ENST00000467889.1	-	5	739	c.555delT	c.(553-555)tttfs	p.F185fs	CALML4_ENST00000395465.3_3'UTR|CALML4_ENST00000448060.2_Frame_Shift_Del_p.F138fs|RP11-315D16.2_ENST00000562767.1_3'UTR|CALML4_ENST00000540479.1_Frame_Shift_Del_p.F109fs	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	185	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCTTGTGGATAAATTCATCAT	0.403																																						ENST00000448060.2																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(412-414)ttfs		calmodulin-like 4							125.0	105.0	112.0					15																	68486389		2200	4298	6498	SO:0001589	frameshift_variant	91860						calcium ion binding	g.chr15:68486389delA	AF308287	CCDS10226.2, CCDS42052.1, CCDS66808.1	15q22.31	2013-01-10			ENSG00000129007	ENSG00000129007		"""EF-hand domain containing"""	18445	protein-coding gene	gene with protein product							Standard	NM_033429		Approved	MGC4809, NY-BR-20	uc002arb.3	Q96GE6	OTTHUMG00000133287	ENST00000467889.1:c.555delT	15.37:g.68486389delA	ENSP00000419081:p.Phe185fs					CALML4_ENST00000395465.3_3'UTR|RP11-315D16.2_ENST00000562767.1_3'UTR|CALML4_ENST00000467889.1_Frame_Shift_Del_p.F185fs|CALML4_ENST00000540479.1_Frame_Shift_Del_p.F109fs	p.F138fs	NM_001031733.2	NP_001026903.2	Q96GE6	CALL4_HUMAN			4	525	-			185			EF-hand 3.		B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	Frame_Shift_Del	DEL	ENST00000467889.1	37	c.414delT	CCDS10226.2																																																																																				0.403	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257067.3	NM_033429		40	40						40	40	---	---	---	---
UACA	55075	broad.mit.edu	37	15	70959372	70959372	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:70959372delT	ENST00000322954.6	-	16	3836	c.3651delA	c.(3649-3651)aaafs	p.K1217fs	UACA_ENST00000560441.1_Frame_Shift_Del_p.K1202fs|UACA_ENST00000539319.1_Frame_Shift_Del_p.K1108fs|UACA_ENST00000379983.2_Frame_Shift_Del_p.K1204fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1217					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TAGTCTCTAATTTTTTTAATG	0.348																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3649-3651)aafs		uveal autoantigen with coiled-coil domains and ankyrin repeats							97.0	96.0	97.0					15																	70959372		2199	4298	6497	SO:0001589	frameshift_variant	55075					cytoskeleton|extracellular region		g.chr15:70959372delT	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3651delA	15.37:g.70959372delT	ENSP00000314556:p.Lys1217fs					UACA_ENST00000539319.1_Frame_Shift_Del_p.K1108fs|UACA_ENST00000379983.2_Frame_Shift_Del_p.K1204fs|UACA_ENST00000560441.1_Frame_Shift_Del_p.K1202fs	p.K1217fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3836	-			1217					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Frame_Shift_Del	DEL	ENST00000322954.6	37	c.3651delA	CCDS10235.1																																																																																				0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			33	68						33	68	---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19710892	19710894	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:19710892_19710894delCAA	ENST00000251143.5	+	30	2727_2729	c.2715_2717delCAA	c.(2713-2718)cgcaac>cgc	p.N907del	C16orf62_ENST00000542263.1_In_Frame_Del_p.N903del|C16orf62_ENST00000438132.3_In_Frame_Del_p.N996del|C16orf62_ENST00000543152.1_In_Frame_Del_p.N656del|C16orf62_ENST00000417362.2_In_Frame_Del_p.N814del|C16orf62_ENST00000448695.1_In_Frame_Del_p.N757del			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	907						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGGACCTACGCAACAACAAGCTC	0.596																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2980-2985)cgc>cg		chromosome 16 open reading frame 62																																				SO:0001651	inframe_deletion	57020					integral to membrane		g.chr16:19710892_19710894delCAA		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2715_2717delCAA	16.37:g.19710898_19710900delCAA	ENSP00000251143:p.Asn907del					C16orf62_ENST00000543152.1_In_Frame_Del_p.RN654del|C16orf62_ENST00000542263.1_In_Frame_Del_p.RN901del|C16orf62_ENST00000448695.1_In_Frame_Del_p.RN755del|C16orf62_ENST00000417362.2_In_Frame_Del_p.RN812del|C16orf62_ENST00000251143.5_In_Frame_Del_p.RN905del	p.RN994del	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			30	3030_3032	+			905					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	In_Frame_Del	DEL	ENST00000251143.5	37	c.2982_2984delCAA																																																																																					0.596	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		36	70						36	70	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21811980	21811980	+	RNA	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:21811980delT	ENST00000546471.1	-	0	1831							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		TGCTATACTCTTTTTAAAGCA	0.303																																						ENST00000546471.1																			0																																																			0							g.chr16:21811980delT			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21811980delT														0	1831	-								A8K6T4|B3KWX9|O75704	RNA	DEL	ENST00000546471.1	37																																																																																						0.303	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		14	21						14	21	---	---	---	---
ERN2	10595	broad.mit.edu	37	16	23711986	23711986	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:23711986delG	ENST00000457008.2	-	12	1281	c.1243delC	c.(1243-1245)ctgfs	p.L415fs	ERN2_ENST00000256797.4_Frame_Shift_Del_p.L515fs					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCAGGTGCCAGGGGGGTCTCC	0.627																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1543-1545)tgfs		endoplasmic reticulum to nucleus signaling 2				0,0,4264		0,0,0,0,0,2132	59.0	60.0	60.0			-0.9	0.0	16		61	1,2,8249		0,0,1,0,2,4123	no	codingComplex	ERN2	NM_033266.3		0,0,1,0,2,6255	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0364,0.0,0.024			23711986	1,2,12513	2197	4300	6497	SO:0001589	frameshift_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23711986delG	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1243delC	16.37:g.23711986delG	ENSP00000413812:p.Leu415fs					ERN2_ENST00000457008.2_Frame_Shift_Del_p.L415fs	p.L515fs	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	13	1711	-			467						Frame_Shift_Del	DEL	ENST00000457008.2	37	c.1543delC																																																																																					0.627	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			38	64						38	64	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27475772	27475772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:27475772delG	ENST00000356183.4	-	34	5756	c.5741delC	c.(5740-5742)ccafs	p.P1914fs	GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.P1914fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1914					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCAAGAGCTGGGGGTGGAGA	0.652																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(5740-5742)cafs		general transcription factor IIIC, polypeptide 1, alpha 220kDa							80.0	90.0	86.0					16																	27475772		2197	4300	6497	SO:0001589	frameshift_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27475772delG	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5741delC	16.37:g.27475772delG	ENSP00000348510:p.Pro1914fs					GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.P1914fs	p.P1914fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			34	5756	-			1914					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Del	DEL	ENST00000356183.4	37	c.5741delC	CCDS32414.1																																																																																				0.652	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		88	169						88	169	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30364763	30364763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:30364763delG	ENST00000305596.3	-	5	909	c.734delC	c.(733-735)ccafs	p.P246fs	CD2BP2_ENST00000569466.1_Frame_Shift_Del_p.P246fs|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	246					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CAGGGAGGGTGGGGGTGTGGG	0.612																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(733-735)cafs		CD2 (cytoplasmic tail) binding protein 2							56.0	57.0	57.0					16																	30364763		2197	4300	6497	SO:0001589	frameshift_variant	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30364763delG	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.734delC	16.37:g.30364763delG	ENSP00000304903:p.Pro246fs					CD2BP2_ENST00000569466.1_Frame_Shift_Del_p.P246fs	p.P246fs	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			5	909	-			246					B2RDX2|Q9ULP2	Frame_Shift_Del	DEL	ENST00000305596.3	37	c.734delC	CCDS10675.1																																																																																				0.612	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		35	75						35	75	---	---	---	---
LINC00922	283867	broad.mit.edu	37	16	65397265	65397266	+	lincRNA	INS	-	-	A	rs371859445		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:65397265_65397266insA	ENST00000569736.1	-	0	486				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1				long intergenic non-protein coding RNA 922																		TAACTTCAGACAAAAAAATATA	0.436																																						ENST00000569736.1																			0																																																			0							g.chr16:65397265_65397266insA	BC037902, BC104446		16q21	2013-05-24			ENSG00000261742	ENSG00000261742		"""Long non-coding RNAs"""	27545	non-coding RNA	RNA, long non-coding							Standard	NR_027755		Approved				OTTHUMG00000172812		16.37:g.65397272_65397272dupA						RP11-256I9.3_ENST00000562656.1_lincRNA		NR_027755.1						0	486	-									RNA	INS	ENST00000569736.1	37																																																																																						0.436	LINC00922-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420601.2	NR_027755		11	3						11	3	---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70190614	70190614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:70190614delG	ENST00000288050.4	+	19	3429	c.2472delG	c.(2470-2472)acgfs	p.T824fs	RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000568530.1_Frame_Shift_Del_p.T824fs|PDPR_ENST00000542659.1_Frame_Shift_Del_p.T169fs|PDPR_ENST00000567046.1_Frame_Shift_Del_p.T182fs|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Frame_Shift_Del_p.T724fs|RP11-296I10.3_ENST00000502126.1_RNA	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	824					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGAGGACACGGGGGAAGAGC	0.557																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2470-2472)acfs		pyruvate dehydrogenase phosphatase regulatory subunit							131.0	149.0	143.0					16																	70190614		2070	4224	6294	SO:0001589	frameshift_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70190614delG		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2472delG	16.37:g.70190614delG	ENSP00000288050:p.Thr824fs					PDPR_ENST00000398122.3_Frame_Shift_Del_p.T724fs|PDPR_ENST00000568530.1_Frame_Shift_Del_p.T824fs|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000542659.1_Frame_Shift_Del_p.T169fs|PDPR_ENST00000567046.1_Frame_Shift_Del_p.T182fs|PDPR_ENST00000562100.1_3'UTR	p.T824fs	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	19	3429	+			824					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Frame_Shift_Del	DEL	ENST00000288050.4	37	c.2472delG	CCDS45520.1																																																																																				0.557	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		26	122						26	122	---	---	---	---
EXOSC6	118460	broad.mit.edu	37	16	70288530	70288530	+	5'Flank	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:70288530delA	ENST00000435634.1	-	0	0				AARS_ENST00000564359.1_5'Flank|AARS_ENST00000261772.8_Frame_Shift_Del_p.L798fs	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CTACCTCTCCAAGGTCAGCGA	0.547																																						ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(2392-2394)ctfs		alanyl-tRNA synthetase	L-Alanine(DB00160)						145.0	107.0	120.0					16																	70288530		2198	4300	6498	SO:0001631	upstream_gene_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70288530delA	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"""Mtr3 (mRNA transport regulator 3)-homolog (yeast)"""	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70288530delA	Exception_encountered						p.L798fs	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	17	2537	-		Ovarian(137;0.0365)	798						Frame_Shift_Del	DEL	ENST00000435634.1	37	c.2394delT	CCDS10887.1																																																																																				0.547	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		21	43						21	43	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85682261	85682261	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:85682261delC	ENST00000253458.7	+	3	506	c.330delC	c.(328-330)gtcfs	p.V110fs	GSE1_ENST00000393243.1_Frame_Shift_Del_p.V37fs|GSE1_ENST00000405402.2_Frame_Shift_Del_p.V6fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	110																	CTATCATCGTCCCCCCTGGGG	0.677																																						ENST00000253458.7																			0											c.(328-330)gtfs		Gse1 coiled-coil protein							70.0	73.0	72.0					16																	85682261		2198	4298	6496	SO:0001589	frameshift_variant	23199							g.chr16:85682261delC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.330delC	16.37:g.85682261delC	ENSP00000253458:p.Val110fs					GSE1_ENST00000405402.2_Frame_Shift_Del_p.V6fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.V37fs	p.V110fs	NM_014615.2	NP_055430.1					3	506	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	ENST00000253458.7	37	c.330delC	CCDS10952.1																																																																																				0.677	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		78	104						78	104	---	---	---	---
KLHDC4	54758	broad.mit.edu	37	16	87788830	87788830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:87788830delG	ENST00000270583.5	-	4	397	c.339delC	c.(337-339)cccfs	p.P113fs	KLHDC4_ENST00000353170.5_Frame_Shift_Del_p.P56fs|KLHDC4_ENST00000347925.5_Frame_Shift_Del_p.P113fs	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	113										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GAGGTGGACTGGGGATGTCAA	0.512																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(337-339)ccfs		kelch domain containing 4							208.0	190.0	196.0					16																	87788830		2198	4300	6498	SO:0001589	frameshift_variant	54758							g.chr16:87788830delG	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.339delC	16.37:g.87788830delG	ENSP00000270583:p.Pro113fs					KLHDC4_ENST00000347925.5_Frame_Shift_Del_p.P113fs|KLHDC4_ENST00000353170.5_Frame_Shift_Del_p.P56fs	p.P113fs	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	4	397	-			113					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Frame_Shift_Del	DEL	ENST00000270583.5	37	c.339delC	CCDS10963.1																																																																																				0.512	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		33	48						33	48	---	---	---	---
SPG7	6687	broad.mit.edu	37	16	89598886	89598886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:89598886delG	ENST00000268704.2	+	9	1181	c.1166delG	c.(1165-1167)cgtfs	p.R389fs	SPG7_ENST00000341316.2_Frame_Shift_Del_p.R389fs|RNU7-117P_ENST00000516770.1_RNA	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	389					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGCGCTGCCCGTGTGCGGAGC	0.582																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1165-1167)ctfs		spastic paraplegia 7 (pure and complicated autosomal recessive)							34.0	40.0	38.0					16																	89598886		2187	4284	6471	SO:0001589	frameshift_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89598886delG	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1166delG	16.37:g.89598886delG	ENSP00000268704:p.Arg389fs					SPG7_ENST00000341316.2_Frame_Shift_Del_p.R389fs	p.R389fs	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	9	1181	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	389					O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Del	DEL	ENST00000268704.2	37	c.1166delG	CCDS10977.1																																																																																				0.582	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		57	103						57	103	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4875738	4875738	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4875738delG	ENST00000348066.3	-	16	2720	c.2597delC	c.(2596-2598)cctfs	p.P866fs	CAMTA2_ENST00000358183.4_Frame_Shift_Del_p.P866fs|CAMTA2_ENST00000361571.5_Frame_Shift_Del_p.P865fs|CAMTA2_ENST00000572543.1_Frame_Shift_Del_p.P871fs|CAMTA2_ENST00000414043.3_Frame_Shift_Del_p.P889fs|CAMTA2_ENST00000381311.5_Frame_Shift_Del_p.P868fs|RP5-1050D4.2_ENST00000430920.1_RNA	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CAGAGGTGCAGGGGGGGGACT	0.612																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2593-2595)ctfs		calmodulin binding transcription activator 2			,,,	35,42,4177		0,0,35,5,32,2055	18.0	20.0	19.0		,,,	2.3	1.0	17		5	28,90,8124		0,0,28,15,60,4018	no	codingComplex,codingComplex,codingComplex,codingComplex	CAMTA2	NM_015099.3,NM_001171168.1,NM_001171167.1,NM_001171166.1	,,,	0,0,63,20,92,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		1.4317,1.8101,1.5605	,,,	,,,	4875738	63,132,12301	2202	4298	6500	SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4875738delG	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2597delC	17.37:g.4875738delG	ENSP00000321813:p.Pro866fs					CAMTA2_ENST00000358183.4_Frame_Shift_Del_p.P866fs|CAMTA2_ENST00000414043.3_Frame_Shift_Del_p.P889fs|CAMTA2_ENST00000381311.5_Frame_Shift_Del_p.P868fs|CAMTA2_ENST00000348066.3_Frame_Shift_Del_p.P866fs|CAMTA2_ENST00000572543.1_Frame_Shift_Del_p.P871fs	p.P865fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			15	3005	-			866					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Del	DEL	ENST00000348066.3	37	c.2594delC	CCDS11063.1																																																																																				0.612	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		20	23						20	23	---	---	---	---
ELAC2	60528	broad.mit.edu	37	17	12897743	12897744	+	Splice_Site	DEL	TG	TG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:12897743_12897744delTG	ENST00000338034.4	-	22	2345_2346	c.2106_2107delCA	c.(2104-2109)cacagc>cagc	p.HS702fs	ELAC2_ENST00000395962.2_Splice_Site_p.HS683fs|ELAC2_ENST00000426905.3_Splice_Site_p.HS662fs	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	702					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CTTTGCTACCTGTGTGTCTTTT	0.564																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.e22+1		elaC ribonuclease Z 2																																				SO:0001630	splice_region_variant	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12897743_12897744delTG	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.2108+1CA>-	17.37:g.12897747_12897748delTG						ELAC2_ENST00000426905.3_Splice_Site_p.HS662_splice|ELAC2_ENST00000395962.2_Splice_Site_p.HS683_splice	p.HS702_splice	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			22	2345_2346	-			702					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Splice_Site	DEL	ENST00000338034.4	37	c.2108_splice	CCDS11164.1																																																																																				0.564	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5		Frame_Shift_Del	157	289						157	289	---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17698653	17698653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:17698653delC	ENST00000353383.1	+	3	2860	c.2391delC	c.(2389-2391)gacfs	p.D797fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.D797fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	797					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGGAGGAGGACCCCCCTGGGG	0.667																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(2389-2391)gafs		retinoic acid induced 1							34.0	40.0	38.0					17																	17698653		2203	4300	6503	SO:0001589	frameshift_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17698653delC	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2391delC	17.37:g.17698653delC	ENSP00000323074:p.Asp797fs					RAI1_ENST00000261641.6_Frame_Shift_Del_p.D797fs	p.D797fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2860	+			797					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Del	DEL	ENST00000353383.1	37	c.2391delC	CCDS11188.1																																																																																				0.667	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		21	34						21	34	---	---	---	---
RP11-160E2.17	0	broad.mit.edu	37	17	18988562	18988563	+	lincRNA	DEL	TT	TT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:18988562_18988563delTT	ENST00000442355.2	+	0	272																											CTGATGTGTGTTTTTTTTTTTA	0.277																																						ENST00000442355.2																			0																																																			0							g.chr17:18988562_18988563delTT																													17.37:g.18988570_18988571delTT														0	272	+									RNA	DEL	ENST00000442355.2	37																																																																																						0.277	RP11-160E2.17-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441117.1			4	9						4	9	---	---	---	---
NLK	51701	broad.mit.edu	37	17	26519194	26519195	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:26519194_26519195delCT	ENST00000407008.3	+	10	2202_2203	c.1484_1485delCT	c.(1483-1485)cctfs	p.P495fs		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	495	Required for homodimerization and kinase activation and localization to the nucleus. {ECO:0000250}.|Required for interaction with TAB2. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AACAGAGTGCCTCTCTGCATCA	0.376																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(1483-1485)cfs		nemo-like kinase																																				SO:0001589	frameshift_variant	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26519194_26519195delCT	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.1484_1485delCT	17.37:g.26519198_26519199delCT	ENSP00000384625:p.Pro495fs						p.P495fs	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	10	2202_2203	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		495					B2RCX1|Q2PNI9|Q6P2A3	Frame_Shift_Del	DEL	ENST00000407008.3	37	c.1484_1485delCT	CCDS11224.2																																																																																				0.376	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		10	12						10	12	---	---	---	---
TAF15	8148	broad.mit.edu	37	17	34171886	34171886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:34171886delG	ENST00000588240.1	+	15	1698	c.1583delG	c.(1582-1584)cggfs	p.R528fs	TAF15_ENST00000592237.1_Frame_Shift_Del_p.G334fs|TAF15_ENST00000311979.3_Frame_Shift_Del_p.R525fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gACAGAAGCCGGGGGGGCTAT	0.612			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1582-1584)cgfs		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							72.0	78.0	76.0					17																	34171886		2203	4300	6503	SO:0001589	frameshift_variant	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171886delG	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1583delG	17.37:g.34171886delG	ENSP00000466950:p.Arg528fs					TAF15_ENST00000311979.3_Frame_Shift_Del_p.R525fs|TAF15_ENST00000592237.1_Frame_Shift_Del_p.G334fs	p.R528fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1698	+		Ovarian(249;0.17)	528			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Frame_Shift_Del	DEL	ENST00000588240.1	37	c.1583delG	CCDS32623.1																																																																																				0.612	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		44	63						44	63	---	---	---	---
KRT222	125113	broad.mit.edu	37	17	38818272	38818272	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:38818272delT	ENST00000476049.1	-	2	162	c.121delA	c.(121-123)atgfs	p.M41fs	KRT222_ENST00000394052.3_Frame_Shift_Del_p.M41fs			Q8N1A0	KT222_HUMAN	keratin 222	41						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TCTTTGTCCATTTTTTTGCTT	0.428																																						ENST00000476049.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						c.(121-123)tgfs		keratin 222							129.0	122.0	124.0					17																	38818272		2203	4300	6503	SO:0001589	frameshift_variant	125113					intermediate filament	structural molecule activity	g.chr17:38818272delT	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.121delA	17.37:g.38818272delT	ENSP00000463483:p.Met41fs					KRT222_ENST00000394052.3_Frame_Shift_Del_p.M41fs	p.M41fs			Q8N1A0	KT222_HUMAN			2	162	-			41					Q7Z368	Frame_Shift_Del	DEL	ENST00000476049.1	37	c.121delA	CCDS11371.1																																																																																				0.428	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349		65	97						65	97	---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46607839	46607839	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:46607839delG	ENST00000239174.6	-	1	520	c.428delC	c.(427-429)cctfs	p.P143fs	HOXB1_ENST00000577092.1_Frame_Shift_Del_p.P143fs	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	143					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTTCCCATAAGGGGGATGCTG	0.617																																						ENST00000239174.6																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(427-429)ctfs		homeobox B1							59.0	62.0	61.0					17																	46607839		2203	4300	6503	SO:0001589	frameshift_variant	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607839delG		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.428delC	17.37:g.46607839delG	ENSP00000355140:p.Pro143fs					HOXB1_ENST00000577092.1_Frame_Shift_Del_p.P143fs	p.P143fs	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN			1	520	-			143					Q4VB03	Frame_Shift_Del	DEL	ENST00000239174.6	37	c.428delC	CCDS32675.1																																																																																				0.617	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			27	53						27	53	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(586-588)agfs		coilin							141.0	132.0	135.0					17																	55028016		2203	4300	6503	SO:0001589	frameshift_variant	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028016delT	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.587delA	17.37:g.55028016delT	ENSP00000240316:p.Lys196fs						p.K196fs	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	621	-	Breast(9;6.15e-08)		196			Lys-rich (basic).		B2R931	Frame_Shift_Del	DEL	ENST00000240316.4	37	c.587delA	CCDS11592.1																																																																																				0.393	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			48	79						48	79	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76425217	76425217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:76425217delG	ENST00000585328.1	-	76	12499	c.12375delC	c.(12373-12375)cccfs	p.P4125fs	DNAH17_ENST00000389840.5_Frame_Shift_Del_p.P4124fs|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4124					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCCAGGTTGGGGGGGATCT	0.582																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(12370-12372)ccfs		dynein, axonemal, heavy chain 17							80.0	86.0	84.0					17																	76425217		2203	4300	6503	SO:0001589	frameshift_variant	8632							g.chr17:76425217delG	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.12375delC	17.37:g.76425217delG	ENSP00000465516:p.Pro4125fs					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Frame_Shift_Del_p.P4125fs	p.P4124fs					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		76	12496	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Frame_Shift_Del	DEL	ENST00000585328.1	37	c.12372delC																																																																																					0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		42	132						42	132	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43459143	43459143	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:43459143delA	ENST00000282041.5	-	33	5738	c.5704delT	c.(5704-5706)tatfs	p.Y1902fs	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1902					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CGAAGCTTATAAAAAAAGTCT	0.343																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(5704-5706)atfs		ectopic P-granules autophagy protein 5 homolog (C. elegans)							67.0	65.0	66.0					18																	43459143		1802	4070	5872	SO:0001589	frameshift_variant	57724				autophagy			g.chr18:43459143delA	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5704delT	18.37:g.43459143delA	ENSP00000282041:p.Tyr1902fs					EPG5_ENST00000585906.1_5'UTR	p.Y1902fs	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			33	5738	-			1902					A2BDF3|Q9H8C8	Frame_Shift_Del	DEL	ENST00000282041.5	37	c.5704delT	CCDS11926.2																																																																																				0.343	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		54	61						54	61	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67697249	67697249	+	Splice_Site	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:67697249delT	ENST00000255674.6	-	42	6030	c.5744delA	c.(5743-5745)aag>ag	p.K1915fs	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1915					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAATGTTACCTTTTTTTTCAA	0.398																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.e42+1		rotatin							196.0	171.0	179.0					18																	67697249		1845	4087	5932	SO:0001630	splice_region_variant	25914						binding	g.chr18:67697249delT	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5745+1A>-	18.37:g.67697249delT						RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	p.K1915_splice	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			42	6030	-		Esophageal squamous(42;0.129)	1915					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Splice_Site	DEL	ENST00000255674.6	37	c.5745_splice	CCDS42443.1																																																																																				0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	Frame_Shift_Del	57	70						57	70	---	---	---	---
TICAM1	148022	broad.mit.edu	37	19	4816465	4816465	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:4816465delG	ENST00000248244.5	-	2	2154	c.1925delC	c.(1924-1926)ccafs	p.P644fs		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	644	Pro-rich.|Sufficient to induce apoptosis.			Missing (in Ref. 6; AAO85488). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.P643fs*>71(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGAGGGCGGTGGGGGGGTGCC	0.731																																						ENST00000248244.5																			1	Insertion - Frameshift(1)	p.P643fs*>71(1)	large_intestine(1)	NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(1924-1926)cafs		toll-like receptor adaptor molecule 1				27,6,4201		0,0,27,0,6,2084	17.0	15.0	16.0			-4.7	0.0	19		16	29,16,8165		0,0,29,1,14,4061	no	codingComplex	TICAM1	NM_182919.2		0,0,56,1,20,6145	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5481,0.7794,0.6268			4816465	56,22,12366	2197	4295	6492	SO:0001589	frameshift_variant	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4816465delG	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1925delC	19.37:g.4816465delG	ENSP00000248244:p.Pro644fs						p.P644fs	NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	2154	-			644	Missing (in Ref. 6; AAO85488).		Pro-rich.|Sufficient to induce apoptosis.		B3Y691|O75532|Q86XP8|Q96GA0	Frame_Shift_Del	DEL	ENST00000248244.5	37	c.1925delC	CCDS12136.1																																																																																				0.731	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		20	24						20	24	---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5587282	5587282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:5587282delG	ENST00000252542.4	-	21	3098	c.2834delC	c.(2833-2835)ccgfs	p.P945fs		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	945	Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P945fs*>9(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		gtgggggtacggggggggatg	0.657																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			1	Deletion - Frameshift(1)	p.P945fs*>9(1)	large_intestine(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2833-2835)cgfs		scaffold attachment factor B2							21.0	21.0	21.0					19																	5587282		2201	4300	6501	SO:0001589	frameshift_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5587282delG	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2834delC	19.37:g.5587282delG	ENSP00000252542:p.Pro945fs						p.P945fs	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	21	3098	-			945			Interacts with SAFB1.		B4DKG3|Q8TB13	Frame_Shift_Del	DEL	ENST00000252542.4	37	c.2834delC	CCDS32879.1																																																																																				0.657	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		9	18						9	18	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9062393	9062394	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:9062393_9062394delTG	ENST00000397910.4	-	3	25255_25256	c.25052_25053delCA	c.(25051-25053)acafs	p.T8351fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8353	Ser-rich.|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						TGGTCACTGCTGTGTGTGTGGA	0.485																																						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.(25051-25053)afs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062393_9062394delTG	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.25052_25053delCA	19.37:g.9062401_9062402delTG	ENSP00000381008:p.Thr8351fs						p.T8351fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	25255_25256	-			8353			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.25052_25053delCA	CCDS54212.1																																																																																				0.485	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		57	88						57	88	---	---	---	---
ZNF433	163059	broad.mit.edu	37	19	12127235	12127235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:12127235delT	ENST00000344980.6	-	4	617	c.447delA	c.(445-447)aaafs	p.K149fs	CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000419886.2_Frame_Shift_Del_p.K114fs|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AGTTGAAAGGTTTTTTACAGT	0.368																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(340-342)aafs		zinc finger protein 433							122.0	127.0	126.0					19																	12127235		2127	4264	6391	SO:0001589	frameshift_variant	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12127235delT	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.447delA	19.37:g.12127235delT	ENSP00000339767:p.Lys149fs					CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Frame_Shift_Del_p.K149fs|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA	p.K114fs			Q8N7K0	ZN433_HUMAN			5	633	-			149					Q86VX3	Frame_Shift_Del	DEL	ENST00000344980.6	37	c.342delA	CCDS45983.1																																																																																				0.368	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		61	89						61	89	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)gggcatfs	p.H1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584																																						ENST00000443236.1																			1	Insertion - Frameshift(1)	p.H1052fs*30(1)	ovary(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3151-3156)ggatcafs		C3 and PZP-like, alpha-2-macroglobulin domain containing 8																																				SO:0001589	frameshift_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039883_17039884insC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3154dupG	19.37:g.17039890_17039890dupC	ENSP00000402505:p.His1052fs						p.S1052fs	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			24	3184_3185	-			1005					Q8NC09|Q9ULD7	Frame_Shift_Ins	INS	ENST00000443236.1	37	c.3153_3154insG	CCDS42519.1																																																																																				0.584	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		21	27						21	27	---	---	---	---
ELL	8178	broad.mit.edu	37	19	18569071	18569073	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:18569071_18569073delCTT	ENST00000262809.4	-	6	882_884	c.811_813delAAG	c.(811-813)aagdel	p.K271del	ELL_ENST00000596124.3_In_Frame_Del_p.K138del	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	271					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CAGGCCAGTCCTTCTGCACATCC	0.601			T	MLL	AL																																	ENST00000262809.4				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(811-813)del		elongation factor RNA polymerase II																																				SO:0001651	inframe_deletion	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18569071_18569073delCTT	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.811_813delAAG	19.37:g.18569071_18569073delCTT	ENSP00000262809:p.Lys271del						p.K271del	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	6	882_884	-			271						In_Frame_Del	DEL	ENST00000262809.4	37	c.811_813delAAG	CCDS12380.1																																																																																				0.601	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		30	50						30	50	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36229400	36229400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:36229400delC	ENST00000222270.7	+	37	8090	c.8090delC	c.(8089-8091)gccfs	p.A2697fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.A2697fs|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000587101.1_5'Flank	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2697					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATCGAGGATGCCAGCAACAAG	0.617																																						ENST00000420124.1																			0											c.(8089-8091)gcfs									56.0	59.0	58.0					19																	36229400		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr19:36229400delC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.8090delC	19.37:g.36229400delC	ENSP00000222270:p.Ala2697fs					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Frame_Shift_Del_p.A2697fs	p.A2697fs							37	8090	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	c.8090delC	CCDS46055.1																																																																																				0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		22	28						22	28	---	---	---	---
PAK4	10298	broad.mit.edu	37	19	39664268	39664269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:39664268_39664269insC	ENST00000593690.1	+	6	1143_1144	c.716_717insC	c.(715-720)atccccfs	p.IP239fs	PAK4_ENST00000358301.3_Frame_Shift_Ins_p.IP239fs|PAK4_ENST00000321944.4_Frame_Shift_Ins_p.IP149fs|PAK4_ENST00000599386.1_Frame_Shift_Ins_p.IP86fs|PAK4_ENST00000599470.1_Frame_Shift_Ins_p.IP86fs|PAK4_ENST00000435673.2_Frame_Shift_Ins_p.IP239fs|PAK4_ENST00000360442.3_Frame_Shift_Ins_p.IP239fs	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	239	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GGCCTGGCCATCCCCCAGTCCT	0.703																																						ENST00000599386.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(256-258)accfs		p21 protein (Cdc42/Rac)-activated kinase 4																																				SO:0001589	frameshift_variant	0				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39664268_39664269insC	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.721dupC	19.37:g.39664273_39664273dupC	ENSP00000469413:p.Ile239fs					PAK4_ENST00000321944.4_Frame_Shift_Ins_p.T149fs|PAK4_ENST00000358301.3_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000599470.1_Frame_Shift_Ins_p.T86fs|PAK4_ENST00000593690.1_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000360442.3_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000435673.2_Frame_Shift_Ins_p.T239fs	p.T86fs	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		4	438_439	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		239			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Frame_Shift_Ins	INS	ENST00000593690.1	37	c.257_258insC	CCDS12528.1																																																																																				0.703	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			19	17						19	17	---	---	---	---
DMPK	1760	broad.mit.edu	37	19	46283185	46283185	+	Intron	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:46283185delG	ENST00000291270.4	-	2	286				DMPK_ENST00000600757.1_Frame_Shift_Del_p.L45fs|DMPK_ENST00000354227.5_Intron|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000447742.2_Intron|DMPK_ENST00000458663.2_Intron|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000343373.4_Frame_Shift_Del_p.L45fs	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase						cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CTGGAGACAAGGGGGAAAGCC	0.612																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(133-135)ttfs		dystrophia myotonica-protein kinase							73.0	81.0	78.0					19																	46283185		1327	2309	3636	SO:0001627	intron_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46283185delG	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.161-58C>-	19.37:g.46283185delG						DMPK_ENST00000291270.4_Intron|DMPK_ENST00000458663.2_Intron|DMPK_ENST00000447742.2_Intron|DMPK_ENST00000354227.5_Intron|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000343373.4_Frame_Shift_Del_p.L45fs	p.L45fs			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	1	820	-		Ovarian(192;0.0308)|all_neural(266;0.112)	45					E5KR08|Q16205|Q6P5Z6	Frame_Shift_Del	DEL	ENST00000291270.4	37	c.133delC	CCDS12674.1																																																																																				0.612	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		14	24						14	24	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47424741	47424741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47424741delT	ENST00000404338.3	+	1	2809	c.2809delT	c.(2809-2811)tttfs	p.F938fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	938					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CTTTCACCCATTTTTTAAAGA	0.453																																						ENST00000404338.3																			0											c.(2809-2811)ttfs		Rho GTPase activating protein 35							102.0	102.0	102.0					19																	47424741		1876	4106	5982	SO:0001589	frameshift_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424741delT	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2809delT	19.37:g.47424741delT	ENSP00000385720:p.Phe938fs						p.F938fs	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2809	+			938					A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	c.2809delT	CCDS46127.1																																																																																				0.453	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		77	118						77	118	---	---	---	---
RASIP1	54922	broad.mit.edu	37	19	49232773	49232773	+	Frame_Shift_Del	DEL	C	C	-	rs370372473		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49232773delC	ENST00000222145.4	-	5	1458	c.1254delG	c.(1252-1254)gggfs	p.G418fs	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	418					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GAGCCGGGGACCCCCCGCGGC	0.657																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1252-1254)ggfs		Ras interacting protein 1							15.0	14.0	14.0					19																	49232773		2186	4285	6471	SO:0001589	frameshift_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49232773delC	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1254delG	19.37:g.49232773delC	ENSP00000222145:p.Gly418fs						p.G418fs	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	5	1458	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	418					Q6U676	Frame_Shift_Del	DEL	ENST00000222145.4	37	c.1254delG	CCDS12731.1																																																																																				0.657	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		9	6						9	6	---	---	---	---
IL4I1	259307	broad.mit.edu	37	19	50393104	50393104	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:50393104delC	ENST00000391826.2	-	8	1669	c.1527delG	c.(1525-1527)gggfs	p.G509fs	IL4I1_ENST00000341114.3_Frame_Shift_Del_p.G531fs|MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000595948.1_Frame_Shift_Del_p.G531fs	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	509						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	CCGATGCAGGCCCCTTCCGGC	0.687																																						ENST00000595948.1																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1591-1593)ggfs		interleukin 4 induced 1							39.0	39.0	39.0					19																	50393104		2202	4298	6500	SO:0001589	frameshift_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50393104delC	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.1527delG	19.37:g.50393104delC	ENSP00000375702:p.Gly509fs					IL4I1_ENST00000391826.2_Frame_Shift_Del_p.G509fs|IL4I1_ENST00000341114.3_Frame_Shift_Del_p.G531fs	p.G531fs	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	10	2213	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	509					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Frame_Shift_Del	DEL	ENST00000391826.2	37	c.1593delG	CCDS12787.1																																																																																				0.687	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			31	33						31	33	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51192558	51192559	+	Intron	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:51192558_51192559insG	ENST00000293441.1	-	15	1983				SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.H35fs|SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCAGGAGAAATGGGGGGGTGGT	0.589																																						ENST00000391813.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(103-105)tttfs		SH3 and multiple ankyrin repeat domains 1																																				SO:0001627	intron_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192558_51192559insG	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1965-22->C	19.37:g.51192565_51192565dupG						SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000359082.3_Intron	p.F35fs			Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	102_103	-		all_neural(266;0.057)	1218					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Ins	INS	ENST00000293441.1	37	c.103_104insC	CCDS12799.1																																																																																				0.589	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		17	47						17	47	---	---	---	---
CTD-2245F17.3	0	broad.mit.edu	37	19	53703989	53703990	+	lincRNA	INS	-	-	C	rs199673227		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:53703989_53703990insC	ENST00000597550.1	+	0	232																											TTGTTCTGTTTCCCCCtttttt	0.47																																						ENST00000597550.1																			0																																																			0							g.chr19:53703989_53703990insC																													19.37:g.53703994_53703994dupC														0	232	+									RNA	INS	ENST00000597550.1	37																																																																																						0.470	CTD-2245F17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000464185.1			3	5						3	5	---	---	---	---
ZSCAN18	65982	broad.mit.edu	37	19	58596656	58596656	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58596656delG	ENST00000240727.6	-	7	1328	c.929delC	c.(928-930)cctfs	p.P310fs	ZSCAN18_ENST00000421612.2_Frame_Shift_Del_p.P174fs|ZSCAN18_ENST00000600404.1_Frame_Shift_Del_p.P366fs|ZSCAN18_ENST00000601144.1_Frame_Shift_Del_p.P310fs	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	310					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P310fs*119(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCGTCCCCAGGGGGCGCCTC	0.746																																						ENST00000240727.6																			1	Deletion - Frameshift(1)	p.P310fs*119(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(928-930)ctfs		zinc finger and SCAN domain containing 18							7.0	10.0	9.0					19																	58596656		1837	3758	5595	SO:0001589	frameshift_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596656delG	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.929delC	19.37:g.58596656delG	ENSP00000240727:p.Pro310fs					ZSCAN18_ENST00000421612.2_Frame_Shift_Del_p.P174fs|ZSCAN18_ENST00000600404.1_Frame_Shift_Del_p.P366fs|ZSCAN18_ENST00000601144.1_Frame_Shift_Del_p.P310fs	p.P310fs	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1328	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	310					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Frame_Shift_Del	DEL	ENST00000240727.6	37	c.929delC	CCDS12971.1																																																																																				0.746	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		25	30						25	30	---	---	---	---
TRIB3	57761	broad.mit.edu	37	20	368784	368784	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:368784delC	ENST00000217233.3	+	2	683	c.130delC	c.(130-132)cccfs	p.P45fs	TRIB3_ENST00000485293.1_3'UTR|TRIB3_ENST00000422053.2_Frame_Shift_Del_p.P72fs	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	45	Interaction with DDIT3/CHOP.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GCCCAGACTGCCCCCCTGCCT	0.627																																					Melanoma(101;421 2374 19538)	ENST00000217233.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21						c.(130-132)ccfs		tribbles pseudokinase 3				7,4257		1,5,2126	79.0	76.0	77.0			-4.4	0.0	20		77	14,8240		7,0,4120	no	frameshift	TRIB3	NM_021158.3		8,5,6246	A1A1,A1R,RR		0.1696,0.1642,0.1678			368784	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:368784delC	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.130delC	20.37:g.368784delC	ENSP00000217233:p.Pro45fs					TRIB3_ENST00000422053.2_Frame_Shift_Del_p.P72fs|TRIB3_ENST00000485293.1_3'UTR	p.P45fs	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	2	683	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	45					Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Frame_Shift_Del	DEL	ENST00000217233.3	37	c.130delC	CCDS12997.1																																																																																				0.627	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		15	229						15	229	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35444375	35444376	+	Frame_Shift_Ins	INS	-	-	C	rs533506514		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:35444375_35444376insC	ENST00000357779.3	-	5	1081_1082	c.755_756insG	c.(754-756)ggtfs	p.G252fs	SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.G93fs|SOGA1_ENST00000237536.4_Frame_Shift_Ins_p.G490fs|SOGA1_ENST00000279034.6_Frame_Shift_Ins_p.G252fs			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	252					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTGCCTCAGGACCCCCACAGCC	0.668																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1468-1470)gccfs		suppressor of glucose, autophagy associated 1																																				SO:0001589	frameshift_variant	140710							g.chr20:35444375_35444376insC	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.756dupG	20.37:g.35444380_35444380dupC	ENSP00000350424:p.Gly252fs					SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.A93fs|SOGA1_ENST00000357779.3_Frame_Shift_Ins_p.A252fs|SOGA1_ENST00000279034.5_Frame_Shift_Ins_p.A252fs	p.A490fs	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	1810_1811	-			252					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Frame_Shift_Ins	INS	ENST00000357779.3	37	c.1469_1470insG																																																																																					0.668	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		17	35						17	35	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33068894	33068896	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:33068894_33068896delGGA	ENST00000286835.7	-	8	1327_1329	c.945_947delTCC	c.(943-948)cctcca>cca	p.315_316PP>P	SCAF4_ENST00000434667.3_In_Frame_Del_p.300_301PP>P|SCAF4_ENST00000399804.1_In_Frame_Del_p.315_316PP>P	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	315	Poly-Pro.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGGTGCCTGTGGAGGAGGAGGAG	0.512																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(943-948)cca>cc		SR-related CTD-associated factor 4			,,	3,4261		0,3,2129					,,	0.8	1.0			48	3,8251		0,3,4124	no	coding,coding,coding	SCAF4	NM_020706.2,NM_001145445.1,NM_001145444.1	,,	0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479	,,	,,		6,12512				SO:0001651	inframe_deletion	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33068894_33068896delGGA	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.945_947delTCC	21.37:g.33068903_33068905delGGA	ENSP00000286835:p.Pro316del					SCAF4_ENST00000434667.3_In_Frame_Del_p.PP300del|SCAF4_ENST00000399804.1_In_Frame_Del_p.PP315del	p.PP315del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			8	1327_1329	-			315			Poly-Pro.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	In_Frame_Del	DEL	ENST00000286835.7	37	c.945_947delTCC	CCDS33537.1																																																																																				0.512	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		20	38						20	38	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47662805	47662805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:47662805delA	ENST00000397708.1	-	26	5591	c.5337delT	c.(5335-5337)tttfs	p.F1779fs	MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.F1779fs|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1779	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.K1780fs*5(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATCGTTTTTAAAAAAATACA	0.433																																						ENST00000397708.1																			1	Insertion - Frameshift(1)	p.K1780fs*5(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5335-5337)ttfs		minichromosome maintenance complex component 3 associated protein							86.0	82.0	83.0					21																	47662805		2203	4300	6503	SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47662805delA	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5337delT	21.37:g.47662805delA	ENSP00000380820:p.Phe1779fs					MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.F1779fs|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA	p.F1779fs			O60318	MCM3A_HUMAN			26	5591	-	Breast(49;0.112)		1779					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Del	DEL	ENST00000397708.1	37	c.5337delT	CCDS13734.1																																																																																				0.433	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		45	75						45	75	---	---	---	---
TUBA8	51807	broad.mit.edu	37	22	18609160	18609161	+	Frame_Shift_Del	DEL	CA	CA	-	rs572043266	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:18609160_18609161delCA	ENST00000330423.3	+	4	488_489	c.415_416delCA	c.(415-417)cacfs	p.H139fs	TUBA8_ENST00000316027.6_Frame_Shift_Del_p.H73fs	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	139					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCTGATTTTCCACAGTTTTGGT	0.52														3	0.000599042	0.0	0.0	5008	,	,		17866	0.0		0.001	False		,,,				2504	0.002					ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(415-417)cfs		tubulin, alpha 8																																				SO:0001589	frameshift_variant	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609160_18609161delCA	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.415_416delCA	22.37:g.18609162_18609163delCA	ENSP00000333326:p.His139fs					TUBA8_ENST00000316027.6_Frame_Shift_Del_p.H73fs	p.H139fs	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			4	488_489	+			139					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Frame_Shift_Del	DEL	ENST00000330423.3	37	c.415_416delCA	CCDS13751.1																																																																																				0.520	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		65	135						65	135	---	---	---	---
ZDHHC8	29801	broad.mit.edu	37	22	20130522	20130522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:20130522delC	ENST00000334554.7	+	10	1510	c.1369delC	c.(1369-1371)cccfs	p.P458fs	ZDHHC8_ENST00000405930.3_Frame_Shift_Del_p.P458fs|ZDHHC8_ENST00000320602.7_Frame_Shift_Del_p.P366fs	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	458					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGAGGGGGGGCCCCCCACGCC	0.687																																						ENST00000334554.7																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(1369-1371)ccfs		zinc finger, DHHC-type containing 8							15.0	18.0	17.0					22																	20130522		2172	4259	6431	SO:0001589	frameshift_variant	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20130522delC	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1369delC	22.37:g.20130522delC	ENSP00000334490:p.Pro458fs					ZDHHC8_ENST00000405930.3_Frame_Shift_Del_p.P458fs|ZDHHC8_ENST00000320602.7_Frame_Shift_Del_p.P366fs	p.P458fs	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN			10	1510	+	Colorectal(54;0.0993)		458					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Frame_Shift_Del	DEL	ENST00000334554.7	37	c.1369delC	CCDS13776.1																																																																																				0.687	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		31	26						31	26	---	---	---	---
THAP7	80764	broad.mit.edu	37	22	21354970	21354970	+	Frame_Shift_Del	DEL	C	C	-	rs426938	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:21354970delC	ENST00000215742.4	-	3	517	c.343delG	c.(343-345)gctfs	p.A115fs	THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Frame_Shift_Del_p.A115fs|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	115			A -> P (in dbSNP:rs426938). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)	p.A115P(1)		cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTGACTTCAGCGGGGCCAGGT	0.602																																						ENST00000215742.4																			1	Substitution - Missense(1)	p.A115P(1)	stomach(1)	cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(343-345)ctfs		THAP domain containing 7							115.0	107.0	110.0					22																	21354970		2203	4300	6503	SO:0001589	frameshift_variant	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21354970delC	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.343delG	22.37:g.21354970delC	ENSP00000215742:p.Ala115fs					THAP7_ENST00000399133.2_Frame_Shift_Del_p.A115fs	p.A115fs	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	517	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	115		A -> P (in dbSNP:rs426938).			B2RD97|D3DX40	Frame_Shift_Del	DEL	ENST00000215742.4	37	c.343delG	CCDS13787.1																																																																																				0.602	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		85	120						85	120	---	---	---	---
CES5AP1	649264	broad.mit.edu	37	22	23712779	23712779	+	RNA	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:23712779delA	ENST00000415114.1	-	0	606									carboxylesterase 5A pseudogene 1																		CTTAGAGGGGAAAAAAAACCC	0.458																																						ENST00000415114.1																			0																																																			0							g.chr22:23712779delA			22q11.23	2010-10-19			ENSG00000215478	ENSG00000215478			38516	pseudogene	pseudogene							Standard	NR_037839		Approved		uc021wms.1		OTTHUMG00000150651		22.37:g.23712779delA														0	606	-									RNA	DEL	ENST00000415114.1	37																																																																																						0.458	CES5AP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319403.1			2	4						2	4	---	---	---	---
GGT5	2687	broad.mit.edu	37	22	24627387	24627387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:24627387delC	ENST00000327365.4	-	6	1282	c.866delG	c.(865-867)ggtfs	p.G289fs	GGT5_ENST00000398292.3_Frame_Shift_Del_p.G289fs|GGT5_ENST00000263112.7_Frame_Shift_Del_p.G257fs|GGT5_ENST00000418439.2_Frame_Shift_Del_p.G212fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	289					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GAGAATGGCACCCCCTGCAGG	0.677																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(865-867)gtfs		gamma-glutamyltransferase 5							17.0	15.0	16.0					22																	24627387		2155	4242	6397	SO:0001589	frameshift_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24627387delC	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.866delG	22.37:g.24627387delC	ENSP00000330080:p.Gly289fs					GGT5_ENST00000418439.2_Frame_Shift_Del_p.G212fs|GGT5_ENST00000263112.7_Frame_Shift_Del_p.G257fs|GGT5_ENST00000398292.3_Frame_Shift_Del_p.G289fs	p.G289fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			6	1282	-			289					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Frame_Shift_Del	DEL	ENST00000327365.4	37	c.866delG	CCDS13825.1																																																																																				0.677	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		2	4						2	4	---	---	---	---
EIF4ENIF1	56478	broad.mit.edu	37	22	31838994	31838994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:31838994delT	ENST00000397525.1	-	16	2383	c.2160delA	c.(2158-2160)aaafs	p.K720fs	EIF4ENIF1_ENST00000330125.5_Frame_Shift_Del_p.K720fs|EIF4ENIF1_ENST00000397523.1_Frame_Shift_Del_p.K696fs|EIF4ENIF1_ENST00000382180.2_Frame_Shift_Del_p.K375fs|EIF4ENIF1_ENST00000344710.5_Frame_Shift_Del_p.K546fs	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	720						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAGAGCTGCTTTTCCAGATG	0.463																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2158-2160)aafs		eukaryotic translation initiation factor 4E nuclear import factor 1							179.0	156.0	163.0					22																	31838994		2203	4300	6503	SO:0001589	frameshift_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31838994delT	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2160delA	22.37:g.31838994delT	ENSP00000380659:p.Lys720fs					EIF4ENIF1_ENST00000344710.5_Frame_Shift_Del_p.K546fs|EIF4ENIF1_ENST00000397523.1_Frame_Shift_Del_p.K696fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Del_p.K720fs|EIF4ENIF1_ENST00000382180.2_Frame_Shift_Del_p.K375fs	p.K720fs	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			16	2383	-			720					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Frame_Shift_Del	DEL	ENST00000397525.1	37	c.2160delA	CCDS13898.1																																																																																				0.463	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		74	82						74	82	---	---	---	---
C22orf24	25775	broad.mit.edu	37	22	32330115	32330117	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:32330115_32330117delAGA	ENST00000248984.3	-	3	636_638	c.470_472delTCT	c.(469-474)ttctcc>tcc	p.F157del	C22orf24_ENST00000486651.1_5'UTR|C22orf24_ENST00000543051.1_In_Frame_Del_p.F224del	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	157						integral component of membrane (GO:0016021)				central_nervous_system(1)|urinary_tract(1)	2						CAGGACTCGGAGAAGATGTTGCT	0.571																																						ENST00000248984.3																			0				central_nervous_system(1)|urinary_tract(1)	2						c.(469-474)tcc>t		chromosome 22 open reading frame 24																																				SO:0001651	inframe_deletion	25775					integral to membrane		g.chr22:32330115_32330117delAGA		CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.470_472delTCT	22.37:g.32330118_32330120delAGA	ENSP00000248984:p.Phe157del					C22orf24_ENST00000543051.1_In_Frame_Del_p.FS224del|C22orf24_ENST00000486651.1_5'UTR	p.FS157del	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN			3	636_638	-			157					B2RCT4|Q5K3R1	In_Frame_Del	DEL	ENST00000248984.3	37	c.470_472delTCT	CCDS46693.1																																																																																				0.571	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075722.2	NM_015372		13	21						13	21	---	---	---	---
NPTXR	23467	broad.mit.edu	37	22	39222592	39222592	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:39222592delG	ENST00000333039.2	-	3	1134	c.1011delC	c.(1009-1011)cccfs	p.P337fs		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	337	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGTAGGAGAAGGGGGTGCCCT	0.652																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2																			0				central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1009-1011)ccfs		neuronal pentraxin receptor							68.0	65.0	66.0					22																	39222592		2203	4300	6503	SO:0001589	frameshift_variant	23467					integral to membrane	metal ion binding	g.chr22:39222592delG	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1011delC	22.37:g.39222592delG	ENSP00000327545:p.Pro337fs						p.P337fs	NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN			3	1134	-	Melanoma(58;0.04)		337			Pentaxin.			Frame_Shift_Del	DEL	ENST00000333039.2	37	c.1011delC	CCDS33647.1																																																																																				0.652	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		68	107						68	107	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42606139	42606139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:42606139delA	ENST00000359486.3	-	1	5309	c.5173delT	c.(5173-5175)tatfs	p.Y1725fs	TCF20_ENST00000404876.1_Frame_Shift_Del_p.Y26fs|TCF20_ENST00000335626.4_Frame_Shift_Del_p.Y1725fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1725					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						TCTTGGGGATAAAAAGGTCCA	0.502																																						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						c.(5173-5175)atfs		transcription factor 20 (AR1)							79.0	80.0	80.0					22																	42606139		2203	4300	6503	SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42606139delA	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	ENST00000359486.3:c.5173delT	22.37:g.42606139delA	ENSP00000352463:p.Tyr1725fs					TCF20_ENST00000335626.4_Frame_Shift_Del_p.Y1725fs|TCF20_ENST00000404876.1_Frame_Shift_Del_p.Y26fs	p.Y1725fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5309	-			1725					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Del	DEL	ENST00000359486.3	37	c.5173delT	CCDS14033.1																																																																																				0.502	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		59	78						59	78	---	---	---	---
TTLL8	164714	broad.mit.edu	37	22	50488585	50488585	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:50488585delA	ENST00000266182.6	-	2	142	c.143delT	c.(142-144)ttgfs	p.L48fs	TTLL8_ENST00000440475.1_Frame_Shift_Del_p.L48fs|TTLL8_ENST00000477219.1_5'UTR			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	84					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GACCTTGGGCAAAAAGTGGAA	0.572																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(142-144)tgfs		tubulin tyrosine ligase-like family, member 8							51.0	55.0	54.0					22																	50488585		2057	4180	6237	SO:0001589	frameshift_variant	164714							g.chr22:50488585delA			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.143delT	22.37:g.50488585delA	ENSP00000266182:p.Leu48fs					TTLL8_ENST00000440475.1_Frame_Shift_Del_p.L48fs|TTLL8_ENST00000477219.1_5'UTR	p.L48fs						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	2	142	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Frame_Shift_Del	DEL	ENST00000266182.6	37	c.143delT																																																																																					0.572	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		20	20						20	20	---	---	---	---
ARSA	410	broad.mit.edu	37	22	51065756	51065757	+	Frame_Shift_Ins	INS	-	-	C	rs74315455		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51065756_51065757insC	ENST00000547307.1	-	2	701_702	c.296_297insG	c.(295-297)ggcfs	p.G99fs	ARSA_ENST00000395619.3_Frame_Shift_Ins_p.G101fs|ARSA_ENST00000356098.5_Frame_Shift_Ins_p.G101fs|ARSA_ENST00000453344.2_Frame_Shift_Ins_p.G15fs|ARSA_ENST00000547805.1_Frame_Shift_Ins_p.G99fs|ARSA_ENST00000395621.3_Frame_Shift_Ins_p.G101fs|ARSA_ENST00000216124.5_Frame_Shift_Ins_p.G101fs			P15289	ARSA_HUMAN	arylsulfatase A	99			G -> D (in MLD; adult type; dbSNP:rs74315455). {ECO:0000269|PubMed:1673291, ECO:0000269|PubMed:21265945}.|G -> V (in MLD; late-infantile form; dbSNP:rs74315455). {ECO:0000269|PubMed:10477432}.		autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CCAGGGGCAGGCCCCCCCGGGA	0.718																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9	GRCh37	CI090050|CM910050|CM990175	ARSA	I|M	rs74315455	c.(295-297)gctfs		arylsulfatase A	Micafungin(DB01141)																																			SO:0001589	frameshift_variant	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51065756_51065757insC	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.297dupG	22.37:g.51065763_51065763dupC	ENSP00000448440:p.Gly99fs					ARSA_ENST00000395619.3_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000216124.5_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000356098.5_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000453344.2_Frame_Shift_Ins_p.A15fs|ARSA_ENST00000547805.1_Frame_Shift_Ins_p.A99fs|ARSA_ENST00000395621.3_Frame_Shift_Ins_p.A101fs	p.A99fs			P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	701_702	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	99		G -> D (in MLD; adult type).|G -> V (in MLD; late-infantile form).			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Frame_Shift_Ins	INS	ENST00000547307.1	37	c.296_297insG																																																																																					0.718	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		8	9						8	9	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51159932	51159933	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51159932_51159933insG	ENST00000414786.2	+	21	3856_3857	c.3629_3630insG	c.(3628-3633)ctggggfs	p.LG1210fs	SHANK3_ENST00000262795.3_Frame_Shift_Ins_p.LG1240fs|SHANK3_ENST00000445220.2_Frame_Shift_Ins_p.LG1226fs			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1224					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCCAGCAGGCTGGGGGGGGCCG	0.718																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(3628-3630)cggfs		SH3 and multiple ankyrin repeat domains 3																																				SO:0001589	frameshift_variant	85358							g.chr22:51159932_51159933insG	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3637dupG	22.37:g.51159940_51159940dupG	ENSP00000464552:p.Leu1210fs					SHANK3_ENST00000262795.3_Frame_Shift_Ins_p.R1240fs|SHANK3_ENST00000445220.2_Frame_Shift_Ins_p.R1226fs	p.R1210fs			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	21	3856_3857	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1240					D7UT47|Q8TET3	Frame_Shift_Ins	INS	ENST00000414786.2	37	c.3629_3630insG																																																																																					0.718	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		8	8						8	8	---	---	---	---
ACR	49	broad.mit.edu	37	22	51178329	51178330	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51178329_51178330insC	ENST00000216139.5	+	3	529_530	c.489_490insC	c.(490-492)cccfs	p.P164fs	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000529621.1_Frame_Shift_Ins_p.P164fs|AC000036.4_ENST00000449652.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGCTGCCTGCCCCACTTTAA	0.579																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(487-492)ctcccafs		acrosin																																				SO:0001589	frameshift_variant	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51178329_51178330insC	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.493dupC	22.37:g.51178333_51178333dupC	ENSP00000216139:p.Pro164fs					ACR_ENST00000529621.1_Frame_Shift_Ins_p.LP163fs	p.LP163fs	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	3	529_530	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	163			Peptidase S1.		Q6ICK2	Frame_Shift_Ins	INS	ENST00000216139.5	37	c.489_490insC	CCDS14101.1																																																																																				0.579	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		68	93						68	93	---	---	---	---
SLC25A6	293	broad.mit.edu	37	X	1508427	1508427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:1508427delC	ENST00000381401.5	-	2	1019	c.305delG	c.(304-306)ggcfs	p.G102fs	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	102					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTTGTCCACGCCCCCCAGGAA	0.607																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(304-306)gcfs		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						206.0	203.0	204.0					X																	1508427		2203	4296	6499	SO:0001589	frameshift_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508427delC	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.305delG	X.37:g.1508427delC	ENSP00000370808:p.Gly102fs					SLC25A6_ENST00000475167.1_5'UTR	p.G102fs	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	1019	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	102					Q96C49	Frame_Shift_Del	DEL	ENST00000381401.5	37	c.305delG	CCDS14114.1																																																																																				0.607	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		101	189						101	189	---	---	---	---
ARSE	415	broad.mit.edu	37	X	2854881	2854883	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:2854881_2854883delAGA	ENST00000381134.3	-	10	1377_1379	c.1311_1313delTCT	c.(1309-1314)cttctg>ctg	p.437_438LL>L	ARSE_ENST00000540563.1_In_Frame_Del_p.392_393LL>L|ARSE_ENST00000545496.1_In_Frame_Del_p.462_463LL>L	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	437					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGCAAGGGCAGAAGGTCTTGGC	0.562																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1384-1389)ctg>ct		arylsulfatase E (chondrodysplasia punctata 1)																																				SO:0001651	inframe_deletion	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2854881_2854883delAGA	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1311_1313delTCT	X.37:g.2854881_2854883delAGA	ENSP00000370526:p.Leu438del					ARSE_ENST00000540563.1_In_Frame_Del_p.LL392del|ARSE_ENST00000381134.3_In_Frame_Del_p.LL437del	p.LL462del			P51690	ARSE_HUMAN			11	1677_1679	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	437					Q53FT2|Q53FU8	In_Frame_Del	DEL	ENST00000381134.3	37	c.1386_1388delTCT	CCDS14122.1																																																																																				0.562	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		20	25						20	25	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47030467	47030469	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:47030467_47030469delGGC	ENST00000377604.3	+	4	984_986	c.242_244delGGC	c.(241-246)aggcgg>agg	p.81_82RR>R	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	81	Poly-Arg.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.R85delR(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACTCAGCGTAGGCGGCGGCGGCG	0.68																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			1	Deletion - In frame(1)	p.R85delR(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(241-246)agg>a		RNA binding motif protein 10			,,,,	44,3546		4,27,9,1518,483					,,,,	3.8	1.0			15	76,6190		7,32,30,2270,1618	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	11,59,39,3788,2101	A1A1,A1R,A1,RR,R		1.2129,1.2256,1.2175	,,,,	,,,,		120,9736				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030467_47030469delGGC	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.242_244delGGC	X.37:g.47030476_47030478delGGC	ENSP00000366829:p.Arg85del					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	p.RR83del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	984_986	+			83			Poly-Arg.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.242_244delGGC	CCDS14274.1																																																																																				0.680	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		26	40						26	40	---	---	---	---
GATA1	2623	broad.mit.edu	37	X	48652397	48652397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:48652397delC	ENST00000376670.3	+	6	1179	c.1068delC	c.(1066-1068)ggcfs	p.G356fs	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	356					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TGACACTGGGCCCCCCAGGTA	0.647			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	ENST00000376670.3				Dom	yes		X	Xp11.23	2623	"""Mis, F"""	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						c.(1066-1068)ggfs		GATA binding protein 1 (globin transcription factor 1)							36.0	33.0	34.0					X																	48652397		2203	4299	6502	SO:0001589	frameshift_variant	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48652397delC	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.1068delC	X.37:g.48652397delC	ENSP00000365858:p.Gly356fs					GATA1_ENST00000376665.3_Intron	p.G356fs	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN			6	1179	+			356					Q96GB8	Frame_Shift_Del	DEL	ENST00000376670.3	37	c.1068delC	CCDS14305.1																																																																																				0.647	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		7	15						7	15	---	---	---	---
TSPYL2	64061	broad.mit.edu	37	X	53111865	53111865	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:53111865delG	ENST00000375442.4	+	1	317	c.185delG	c.(184-186)aggfs	p.R62fs		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	62	Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GCCGATATGAGGGGGGTGGGA	0.726																																						ENST00000375442.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						c.(184-186)agfs		TSPY-like 2							2.0	3.0	3.0					X																	53111865		1636	3469	5105	SO:0001589	frameshift_variant	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53111865delG	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.185delG	X.37:g.53111865delG	ENSP00000364591:p.Arg62fs						p.R62fs	NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN			1	317	+			62			Pro-rich.		O94799|Q96DG7|Q9BZW6	Frame_Shift_Del	DEL	ENST00000375442.4	37	c.185delG	CCDS14350.1																																																																																				0.726	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		6	11						6	11	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73045718	73045718	+	lincRNA	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:73045718delA	ENST00000604411.1	+	0	33679				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AAACAGGAAGAAAAAAATCAA	0.368																																						ENST00000604411.1																			0																				39.0	37.0	37.0					X																	73045718		875	1991	2866			0							g.chrX:73045718delA			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73045718delA						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	33679	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.368	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		16	31						16	31	---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131212901	131212903	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:131212901_131212903delTCC	ENST00000298542.4	-	12	1317_1319	c.1142_1144delGGA	c.(1141-1146)aggaat>aat	p.R381del	FRMD7_ENST00000370879.1_In_Frame_Del_p.R261del|FRMD7_ENST00000464296.1_In_Frame_Del_p.R366del	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	381					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					aatgcagaattcctcctcctact	0.498																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1141-1146)aat>a		FERM domain containing 7																																				SO:0001651	inframe_deletion	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212901_131212903delTCC	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1142_1144delGGA	X.37:g.131212907_131212909delTCC	ENSP00000298542:p.Arg381del					FRMD7_ENST00000370879.1_In_Frame_Del_p.RN261del|FRMD7_ENST00000464296.1_In_Frame_Del_p.RN366del	p.RN381del	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1317_1319	-	Acute lymphoblastic leukemia(192;0.000127)		381					C0LLJ3|Q5JX99	In_Frame_Del	DEL	ENST00000298542.4	37	c.1142_1144delGGA	CCDS35397.1																																																																																				0.498	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		12	298						12	298	---	---	---	---
