#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PLEKHN1	84069	broad.mit.edu	37	1	906364	906364	+	Missense_Mutation	SNP	G	G	A	rs370898773	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:906364G>A	ENST00000379409.2	+	5	740	c.710G>A	c.(709-711)cGc>cAc	p.R237H	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R197H|PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R197H			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	237										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGGCCGCGGCGCTGCCACTCG	0.736													G|||	2	0.000399361	0.0	0.0014	5008	,	,		10953	0.001		0.0	False		,,,				2504	0.0					uc001ace.2		NA																	0					0						c.(709-711)CGC>CAC		pleckstrin homology domain containing, family N		G	HIS/ARG,HIS/ARG	2,3696		0,2,1847	5.0	8.0	7.0		590,590	0.2	0.1	1		7	1,7731		0,1,3865	no	missense,missense	PLEKHN1	NM_001160184.1,NM_032129.2	29,29	0,3,5712	AA,AG,GG		0.0129,0.0541,0.0262	benign,benign	197/577,197/612	906364	3,11427	1849	3866	5715	SO:0001583	missense	84069							g.chr1:906364G>A	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.710G>A	1.37:g.906364G>A	ENSP00000368719:p.Arg237His					PLEKHN1_uc001acd.2_Missense_Mutation_p.R197H|PLEKHN1_uc001acf.2_Missense_Mutation_p.R197H	p.R237H	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	5	745	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	237					Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.710G>A		.	.	.	.	.	.	.	.	.	.	G	1.703	-0.501032	0.04261	5.41E-4	1.29E-4	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.46451	0.87;0.95;0.9	4.4	0.243	0.15503	.	1.285040	0.05166	N	0.498738	T	0.38081	0.1027	L	0.47716	1.5	0.20975	N	0.999816	B;B;B	0.15930	0.0;0.015;0.003	B;B;B	0.09377	0.001;0.004;0.001	T	0.33163	-0.9879	10	0.41790	T	0.15	.	10.0715	0.42337	0.3295:0.0:0.6705:0.0	.	197;237;197	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	H	197;197;237	ENSP00000368720:R197H;ENSP00000368717:R197H;ENSP00000368719:R237H	ENSP00000368717:R197H	R	+	2	0	PLEKHN1	896227	0.000000	0.05858	0.100000	0.21137	0.004000	0.04260	-1.298000	0.02756	-0.372000	0.07992	-1.688000	0.00730	CGC		0.736	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		5	10	0	0	0	0	5	10				
TARDBP	23435	broad.mit.edu	37	1	11082376	11082376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:11082376G>A	ENST00000240185.3	+	6	1024	c.910G>A	c.(910-912)Ggt>Agt	p.G304S	TARDBP_ENST00000315091.3_Intron|TARDBP_ENST00000439080.2_Missense_Mutation_p.G188S	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	304	Gly-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAACAATCAAGGTAGTAATAT	0.498																																						uc001art.2		NA																	0				ovary(2)	2						c.(910-912)GGT>AGT		TAR DNA binding protein							80.0	77.0	78.0					1																	11082376		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11082376G>A	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.910G>A	1.37:g.11082376G>A	ENSP00000240185:p.Gly304Ser					TARDBP_uc010oap.1_Missense_Mutation_p.G188S	p.G304S	NM_007375	NP_031401	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	6	1044	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	304			Gly-rich.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.910G>A	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824311	0.71143	.	.	ENSG00000120948	ENST00000240185;ENST00000439080	D;D	0.91237	-2.81;-2.81	5.81	5.81	0.92471	.	0.128561	0.64402	D	0.000001	D	0.92519	0.7624	L	0.31926	0.97	0.80722	D	1	D;B	0.89917	1.0;0.02	D;B	0.75484	0.986;0.014	D	0.89565	0.3809	10	0.20519	T	0.43	-15.4605	20.0825	0.97783	0.0:0.0:1.0:0.0	.	188;304	B4DJ45;Q13148	.;TADBP_HUMAN	S	304;188	ENSP00000240185:G304S;ENSP00000404666:G188S	ENSP00000240185:G304S	G	+	1	0	TARDBP	11004963	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.326000	0.59241	2.746000	0.94184	0.655000	0.94253	GGT		0.498	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		6	60	0	0	0	0	6	60				
HIVEP3	59269	broad.mit.edu	37	1	41978886	41978886	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:41978886T>A	ENST00000372583.1	-	8	6891	c.6006A>T	c.(6004-6006)gaA>gaT	p.E2002D	HIVEP3_ENST00000372584.1_Missense_Mutation_p.E2002D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E2002D|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E2002D	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2002					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGCCTGTGGTTCTCGGGCCG	0.632																																						uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(6004-6006)GAA>GAT		human immunodeficiency virus type I enhancer							48.0	57.0	54.0					1																	41978886		2202	4299	6501	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41978886T>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6006A>T	1.37:g.41978886T>A	ENSP00000361664:p.Glu2002Asp					HIVEP3_uc001cha.3_Missense_Mutation_p.E2002D|HIVEP3_uc001cgy.2_RNA	p.E2002D	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			8	7219	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2002					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6006A>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587687	0.46110	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06294	3.33;3.32;3.32;3.33	3.79	-5.21	0.02815	.	0.290096	0.24513	N	0.037867	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.33929	-0.9849	10	0.36615	T	0.2	-5.7312	6.3979	0.21622	0.1111:0.6277:0.1117:0.1494	.	2002;2002	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	2002	ENSP00000361665:E2002D;ENSP00000361664:E2002D;ENSP00000247584:E2002D;ENSP00000410828:E2002D	ENSP00000247584:E2002D	E	-	3	2	HIVEP3	41751473	0.000000	0.05858	0.023000	0.16930	0.890000	0.51754	-1.220000	0.02971	-0.808000	0.04387	-0.256000	0.11100	GAA		0.632	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		30	44	0	0	0	0	30	44				
HIVEP3	59269	broad.mit.edu	37	1	42050284	42050284	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:42050284G>A	ENST00000372583.1	-	4	1070	c.185C>T	c.(184-186)cCc>cTc	p.P62L	HIVEP3_ENST00000372584.1_Missense_Mutation_p.P62L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P62L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P62L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	62					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AACTGATGAGGGGCCCGGGAA	0.622																																						uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(184-186)CCC>CTC		human immunodeficiency virus type I enhancer							70.0	87.0	81.0					1																	42050284		2202	4299	6501	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050284G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.185C>T	1.37:g.42050284G>A	ENSP00000361664:p.Pro62Leu					HIVEP3_uc001cha.3_Missense_Mutation_p.P62L|HIVEP3_uc001cgy.2_RNA	p.P62L	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	1398	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	62					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.185C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760478	0.31137	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06371	3.32;3.31;3.31;3.32	4.85	3.93	0.45458	.	0.261628	0.27591	N	0.018685	T	0.06508	0.0167	N	0.24115	0.695	0.42567	D	0.993166	P;B	0.44429	0.835;0.418	B;B	0.43728	0.429;0.136	T	0.34576	-0.9823	10	0.72032	D	0.01	-21.8676	11.5995	0.50995	0.0865:0.0:0.9135:0.0	.	62;62	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	62	ENSP00000361665:P62L;ENSP00000361664:P62L;ENSP00000247584:P62L;ENSP00000410828:P62L	ENSP00000247584:P62L	P	-	2	0	HIVEP3	41822871	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.040000	0.57333	1.262000	0.44165	0.563000	0.77884	CCC		0.622	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		46	76	0	0	0	0	46	76				
C8B	732	broad.mit.edu	37	1	57422503	57422503	+	Silent	SNP	A	A	G	rs545739274		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:57422503A>G	ENST00000371237.4	-	3	396	c.330T>C	c.(328-330)tgT>tgC	p.C110C	C8B_ENST00000535057.1_Silent_p.C48C|C8B_ENST00000543257.1_Silent_p.C58C	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	110	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTTGGTAACACAGTCTTCGA	0.498													A|||	1	0.000199681	0.0	0.0014	5008	,	,		20354	0.0		0.0	False		,,,				2504	0.0					uc001cyp.2		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(328-330)TGT>TGC		complement component 8, beta polypeptide							291.0	269.0	277.0					1																	57422503		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57422503A>G	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.330T>C	1.37:g.57422503A>G						C8B_uc010oon.1_Silent_p.C48C|C8B_uc010ooo.1_Silent_p.C58C	p.C110C	NM_000066	NP_000057	P07358	CO8B_HUMAN			3	397	-			110			TSP type-1 1.		A1L4K7	Silent	SNP	ENST00000371237.4	37	c.330T>C	CCDS30730.1																																																																																				0.498	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			28	222	0	0	0	0	28	222				
LRRC40	55631	broad.mit.edu	37	1	70616847	70616847	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:70616847A>T	ENST00000370952.3	-	13	1560	c.1481T>A	c.(1480-1482)cTg>cAg	p.L494Q		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	494						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CAGTCTTACCAGTGATTCCAT	0.284																																						uc001der.1		NA																	0				ovary(1)	1						c.(1480-1482)CTG>CAG		leucine rich repeat containing 40							56.0	57.0	56.0					1																	70616847		2200	4293	6493	SO:0001583	missense	55631							g.chr1:70616847A>T		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1481T>A	1.37:g.70616847A>T	ENSP00000359990:p.Leu494Gln						p.L494Q	NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN			13	1533	-			494			LRR 16.		Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.1481T>A	CCDS646.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154929	0.57259	.	.	ENSG00000066557	ENST00000370952	T	0.62639	0.01	5.74	4.6	0.57074	.	0.069659	0.53938	D	0.000052	T	0.79446	0.4447	M	0.93939	3.475	0.43536	D	0.995829	D	0.89917	1.0	D	0.80764	0.994	D	0.84989	0.0893	10	0.87932	D	0	.	13.1144	0.59292	0.8663:0.1337:0.0:0.0	.	494	Q9H9A6	LRC40_HUMAN	Q	494	ENSP00000359990:L494Q	ENSP00000359990:L494Q	L	-	2	0	LRRC40	70389435	0.724000	0.28038	0.353000	0.25747	0.532000	0.34746	5.810000	0.69179	0.968000	0.38212	0.533000	0.62120	CTG		0.284	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		10	19	0	0	0	0	10	19				
ERICH3	127254	broad.mit.edu	37	1	75038758	75038758	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:75038758T>C	ENST00000326665.5	-	14	2854	c.2636A>G	c.(2635-2637)cAa>cGa	p.Q879R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		879	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATCAAGGCTTGCTTTTCAGG	0.527																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2635-2637)CAA>CGA		hypothetical protein LOC127254							227.0	226.0	226.0					1																	75038758		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038758T>C																												ENST00000326665.5:c.2636A>G	1.37:g.75038758T>C	ENSP00000322609:p.Gln879Arg						p.Q879R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2855	-			879			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2636A>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	4.397	0.073358	0.08485	.	.	ENSG00000178965	ENST00000326665	T	0.13657	2.57	5.37	-6.16	0.02098	.	.	.	.	.	T	0.01454	0.0047	N	0.22421	0.69	0.09310	N	1	B	0.29988	0.264	B	0.24701	0.055	T	0.44050	-0.9353	9	0.18710	T	0.47	-0.8712	1.4491	0.02371	0.2047:0.1253:0.3168:0.3532	.	879	Q5RHP9	CA173_HUMAN	R	879	ENSP00000322609:Q879R	ENSP00000322609:Q879R	Q	-	2	0	C1orf173	74811346	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.015000	0.13355	-1.087000	0.03081	-0.490000	0.04691	CAA		0.527	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			72	156	0	0	0	0	72	156				
HFM1	164045	broad.mit.edu	37	1	91859650	91859650	+	Splice_Site	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:91859650C>G	ENST00000370425.3	-	4	592	c.494G>C	c.(493-495)aGa>aCa	p.R165T	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	165					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)		taataattaCCTTTTCCGGAA	0.289																																						uc001doa.3		NA																	0					0						c.(493-495)AGA>ACA		HFM1 protein							28.0	30.0	30.0					1																	91859650		2194	4285	6479	SO:0001630	splice_region_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91859650C>G	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.494+1G>C	1.37:g.91859650C>G						HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.R165T	p.R165T	NM_001017975	NP_001017975	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)	4	594	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	165					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.494G>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326733	0.41197	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000427444	T;T	0.60299	0.2;1.31	4.34	4.34	0.51931	.	6.927540	0.01639	U	0.023941	T	0.33876	0.0878	L	0.27053	0.805	0.80722	D	1	P;P	0.47762	0.9;0.51	B;B	0.39419	0.299;0.098	T	0.30060	-0.9991	9	.	.	.	.	13.0581	0.58992	0.0:1.0:0.0:0.0	.	165;165	B7ZM16;A2PYH4	.;HFM1_HUMAN	T	165;198;123	ENSP00000359454:R165T;ENSP00000388900:R123T	.	R	-	2	0	HFM1	91632238	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	3.651000	0.54431	2.373000	0.80994	0.591000	0.81541	AGA		0.289	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Missense_Mutation	9	10	0	0	0	0	9	10				
ARHGAP29	9411	broad.mit.edu	37	1	94669495	94669495	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:94669495A>G	ENST00000260526.6	-	8	935	c.753T>C	c.(751-753)atT>atC	p.I251I	ARHGAP29_ENST00000370217.3_Silent_p.I251I	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	251					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)			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)		CCTGAATTCCAATGTTAGTTC	0.338																																						uc001dqj.3		NA																	0				breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(751-753)ATT>ATC		PTPL1-associated RhoGAP 1							81.0	80.0	80.0					1																	94669495		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94669495A>G		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.753T>C	1.37:g.94669495A>G						ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Silent_p.I251I	p.I251I	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	8	1122	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	251					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.753T>C	CCDS748.1																																																																																				0.338	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		7	26	0	0	0	0	7	26				
PLPPR4	9890	broad.mit.edu	37	1	99772018	99772018	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:99772018A>C	ENST00000370185.3	+	7	2241	c.1744A>C	c.(1744-1746)Atg>Ctg	p.M582L	LPPR4_ENST00000370184.1_Missense_Mutation_p.M424L|LPPR4_ENST00000457765.1_Missense_Mutation_p.M524L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		582					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGTCATAGCCATGTCCAAGCA	0.537																																						uc001dse.2		NA																	0				ovary(3)	3						c.(1744-1746)ATG>CTG		plasticity related gene 1							60.0	61.0	61.0					1																	99772018		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772018A>C																												ENST00000370185.3:c.1744A>C	1.37:g.99772018A>C	ENSP00000359204:p.Met582Leu					LPPR4_uc010oue.1_Missense_Mutation_p.M524L	p.M582L	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1850	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	582					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1744A>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023946	0.35701	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.23754	2.42;2.37;1.89	6.06	6.06	0.98353	.	0.080350	0.85682	D	0.000000	T	0.15609	0.0376	L	0.52126	1.63	0.50813	D	0.999892	B;B	0.19200	0.034;0.025	B;B	0.27887	0.015;0.084	T	0.05338	-1.0891	9	.	.	.	-32.9809	16.6093	0.84858	1.0:0.0:0.0:0.0	.	524;582	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	L	582;524;424	ENSP00000359204:M582L;ENSP00000394913:M524L;ENSP00000359203:M424L	.	M	+	1	0	RP4-788L13.1	99544606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.837000	0.69381	2.324000	0.78689	0.533000	0.62120	ATG		0.537	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			23	47	0	0	0	0	23	47				
COL11A1	1301	broad.mit.edu	37	1	103400075	103400075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:103400075C>T	ENST00000370096.3	-	46	3842	c.3530G>A	c.(3529-3531)gGg>gAg	p.G1177E	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1189E|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1138E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1061E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1177	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAAACATCCCCTGCTGTCC	0.448																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3529-3531)GGG>GAG		alpha 1 type XI collagen isoform A							120.0	108.0	112.0					1																	103400075		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103400075C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3530G>A	1.37:g.103400075C>T	ENSP00000359114:p.Gly1177Glu					COL11A1_uc001duk.2_Missense_Mutation_p.G373E|COL11A1_uc001dum.2_Missense_Mutation_p.G1189E|COL11A1_uc001dun.2_Missense_Mutation_p.G1138E|COL11A1_uc009weh.2_Missense_Mutation_p.G1061E	p.G1177E	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	46	3848	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1177			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3530G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278583	0.80692	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	D	0.97125	0.9814	10	0.87932	D	0	.	19.4383	0.94807	0.0:1.0:0.0:0.0	.	1061;1138;1189;1177;397	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	E	1177;1189;1138;397;1061	ENSP00000359114:G1177E;ENSP00000351163:G1189E;ENSP00000302551:G1138E;ENSP00000426533:G1061E	ENSP00000302551:G1138E	G	-	2	0	COL11A1	103172663	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.752000	0.85141	2.589000	0.87451	0.655000	0.94253	GGG		0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		16	49	0	0	0	0	16	49				
SV2A	9900	broad.mit.edu	37	1	149876628	149876628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:149876628G>A	ENST00000369146.3	-	13	2657	c.2167C>T	c.(2167-2169)Ctt>Ttt	p.L723F		NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	723					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCAAGGGCAAGGGCAGCTGAG	0.602																																						uc001etg.2		NA																	0				ovary(6)|pancreas(1)	7						c.(2167-2169)CTT>TTT		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						47.0	41.0	43.0					1																	149876628		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149876628G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.2167C>T	1.37:g.149876628G>A	ENSP00000358142:p.Leu723Phe					SV2A_uc009wlk.2_Missense_Mutation_p.L175F	p.L723F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		13	2658	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		723			Helical; (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.2167C>T	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338287	0.60963	.	.	ENSG00000159164	ENST00000369146	T	0.60672	0.17	4.35	4.35	0.52113	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.313337	0.29145	N	0.013003	T	0.61173	0.2326	M	0.63843	1.955	0.80722	D	1	P;D	0.71674	0.924;0.998	P;D	0.70016	0.874;0.967	T	0.65146	-0.6239	10	0.59425	D	0.04	-11.5295	8.0813	0.30746	0.1082:0.0:0.8918:0.0	.	175;723	B4E000;Q7L0J3	.;SV2A_HUMAN	F	723	ENSP00000358142:L723F	ENSP00000358142:L723F	L	-	1	0	SV2A	148143252	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.409000	0.66374	2.244000	0.73946	0.549000	0.68633	CTT		0.602	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			7	27	0	0	0	0	7	27				
ARNT	405	broad.mit.edu	37	1	150808901	150808901	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:150808901C>A	ENST00000358595.5	-	7	755	c.555G>T	c.(553-555)agG>agT	p.R185S	ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000515192.1_Missense_Mutation_p.R176S|ARNT_ENST00000505755.1_Missense_Mutation_p.R170S|ARNT_ENST00000354396.2_Missense_Mutation_p.R185S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	185	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|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 protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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 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)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R185R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATACACCACCCTGCCTGTCT	0.453			T	ETV6	AML																																	uc001evr.1		NA		Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		1	Substitution - coding silent(1)		large_intestine(1)	skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9						c.(553-555)AGG>AGT		aryl hydrocarbon receptor nuclear translocator							97.0	83.0	88.0					1																	150808901		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150808901C>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.555G>T	1.37:g.150808901C>A	ENSP00000351407:p.Arg185Ser					ARNT_uc001evs.1_Missense_Mutation_p.R170S|ARNT_uc009wmb.1_Missense_Mutation_p.R176S|ARNT_uc009wmc.1_Missense_Mutation_p.R185S|ARNT_uc009wmd.1_Missense_Mutation_p.R170S|ARNT_uc009wme.1_Missense_Mutation_p.R185S|ARNT_uc010pcl.1_Missense_Mutation_p.R169S	p.R185S	NM_001668	NP_001659	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	698	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		185			PAS 1.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.555G>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248482	0.80024	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.52	-1.71	0.08133	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	M	0.74389	2.26	0.80722	D	1	D;D;D;P;P;D;D	0.89917	1.0;1.0;1.0;0.863;0.863;0.996;1.0	D;D;D;P;P;D;D	0.91635	0.999;0.999;0.999;0.8;0.8;0.969;0.999	T	0.18209	-1.0344	10	0.56958	D	0.05	.	2.0473	0.03563	0.1045:0.3483:0.1984:0.3488	.	169;185;170;185;176;170;185	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	S	185;185;185;176;169;170	ENSP00000351407:R185S;ENSP00000346372:R185S;ENSP00000423851:R176S;ENSP00000427571:R170S	ENSP00000346372:R185S	R	-	3	2	ARNT	149075525	0.012000	0.17670	0.998000	0.56505	0.981000	0.71138	-1.036000	0.03560	0.027000	0.15297	0.655000	0.94253	AGG		0.453	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			11	40	1	0	3.86e-05	0.00011387	11	40				
CERS2	29956	broad.mit.edu	37	1	150941485	150941485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:150941485G>A	ENST00000271688.6	-	2	468	c.82C>T	c.(82-84)Cga>Tga	p.R28*	RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000561294.1_Nonsense_Mutation_p.R28*|CERS2_ENST00000345896.4_Intron|CERS2_ENST00000368954.5_Nonsense_Mutation_p.R28*	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	28					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CGTCCATCTCGGTCTTCTAGA	0.527																																						uc001evy.2		NA																	0					0						c.(82-84)CGA>TGA		LAG1 longevity assurance 2							146.0	112.0	124.0					1																	150941485		2203	4300	6503	SO:0001587	stop_gained	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150941485G>A	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.82C>T	1.37:g.150941485G>A	ENSP00000271688:p.Arg28*					LASS2_uc001evz.2_Nonsense_Mutation_p.R28*|LASS2_uc009wmh.2_Intron	p.R28*	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	469	-	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		28			Lumenal (Potential).		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Nonsense_Mutation	SNP	ENST00000271688.6	37	c.82C>T	CCDS973.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614630	0.87359	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609;ENST00000457392	.	.	.	4.65	3.64	0.41730	.	0.157936	0.42172	D	0.000749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-2.3164	10.8078	0.46529	0.0:0.0:0.5642:0.4358	.	.	.	.	X	28;28;48;28;28;28	.	ENSP00000271688:R28X	R	-	1	2	CERS2	149208109	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	2.628000	0.46477	0.940000	0.37473	0.650000	0.86243	CGA		0.527	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		8	47	0	0	0	0	8	47				
CD1D	912	broad.mit.edu	37	1	158152775	158152775	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:158152775A>T	ENST00000368171.3	+	5	1214	c.715A>T	c.(715-717)Atg>Ttg	p.M239L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	239	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGTGAAGTGGATGCGGGGTGA	0.627																																						uc001frr.2		NA																	0				ovary(1)	1						c.(715-717)ATG>TTG		CD1D antigen precursor							120.0	111.0	114.0					1																	158152775		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152775A>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.715A>T	1.37:g.158152775A>T	ENSP00000357153:p.Met239Leu					CD1D_uc009wss.2_Intron	p.M239L	NM_001766	NP_001757	P15813	CD1D_HUMAN			5	1214	+	all_hematologic(112;0.0378)		239			Ig-like.|Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.715A>T	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.969021	0.53614	.	.	ENSG00000158473	ENST00000368171	T	0.11169	2.8	5.18	4.02	0.46733	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.100480	0.44902	N	0.000412	T	0.05914	0.0154	L	0.45051	1.395	0.30180	N	0.800538	P	0.48764	0.915	P	0.47044	0.535	T	0.09100	-1.0690	10	0.87932	D	0	-31.2078	9.1153	0.36753	0.815:0.185:0.0:0.0	.	239	P15813	CD1D_HUMAN	L	239	ENSP00000357153:M239L	ENSP00000357153:M239L	M	+	1	0	CD1D	156419399	0.998000	0.40836	1.000000	0.80357	0.954000	0.61252	0.327000	0.19663	0.869000	0.35703	0.533000	0.62120	ATG		0.627	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		10	133	0	0	0	0	10	133				
CD84	8832	broad.mit.edu	37	1	160520798	160520798	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:160520798G>C	ENST00000311224.4	-	6	905	c.839C>G	c.(838-840)aCa>aGa	p.T280R	CD84_ENST00000368047.3_5'Flank|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368054.3_Missense_Mutation_p.T263R|CD84_ENST00000368051.3_Intron|CD84_ENST00000368048.3_Missense_Mutation_p.T274R|CD84_ENST00000534968.1_Missense_Mutation_p.T149R	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	280					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATGATATATGTGTATATGGT	0.423																																						uc001fwh.3		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(838-840)ACA>AGA		CD84 molecule							235.0	230.0	232.0					1																	160520798		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160520798G>C	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.839C>G	1.37:g.160520798G>C	ENSP00000312367:p.Thr280Arg					CD84_uc001fwf.3_Missense_Mutation_p.T263R|CD84_uc001fwg.3_Missense_Mutation_p.T274R|CD84_uc009wtn.2_Intron|CD84_uc001fwi.3_Missense_Mutation_p.T149R	p.T280R	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		6	863	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		280			Cytoplasmic (Potential).|ITSM motif 1.		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.839C>G	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159434	0.21454	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224	T;T;T;T	0.60299	2.47;0.25;1.13;0.2	4.2	3.25	0.37280	.	3.509730	0.01238	N	0.008536	T	0.33030	0.0849	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.27351	0.091;0.002;0.176;0.023	B;B;B;B	0.24541	0.027;0.007;0.054;0.027	T	0.16482	-1.0401	10	0.19590	T	0.45	-0.0023	8.5973	0.33723	0.0:0.0:0.7116:0.2884	.	149;280;274;263	Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;SLAF5_HUMAN;.;.	R	149;263;274;280	ENSP00000442845:T149R;ENSP00000357033:T263R;ENSP00000357027:T274R;ENSP00000312367:T280R	ENSP00000312367:T280R	T	-	2	0	CD84	158787422	0.004000	0.15560	0.001000	0.08648	0.047000	0.14425	0.933000	0.28897	1.269000	0.44280	0.650000	0.86243	ACA		0.423	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		20	318	0	0	0	0	20	318				
RXRG	6258	broad.mit.edu	37	1	165398200	165398200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:165398200G>A	ENST00000359842.5	-	2	355	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	18	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GTGGCCAGGGGAGCCTGTAAG	0.567																																						uc001gda.2		NA																	0					0						c.(52-54)TCC>TTC		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						43.0	39.0	41.0					1																	165398200		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165398200G>A	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.53C>T	1.37:g.165398200G>A	ENSP00000352900:p.Ser18Phe						p.S18F	NM_006917	NP_008848	P48443	RXRG_HUMAN			2	353	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		18			Modulating (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.53C>T	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067760	0.55539	.	.	ENSG00000143171	ENST00000359842	D	0.93189	-3.18	4.56	4.56	0.56223	.	0.926309	0.09347	N	0.814646	D	0.87030	0.6076	L	0.27053	0.805	0.41198	D	0.986358	B	0.26258	0.145	B	0.33521	0.165	T	0.80188	-0.1486	9	0.52906	T	0.07	.	16.0757	0.80967	0.0:0.0:1.0:0.0	.	18	P48443	RXRG_HUMAN	F	18	ENSP00000352900:S18F	ENSP00000352900:S18F	S	-	2	0	RXRG	163664824	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.702000	0.84576	2.359000	0.80004	0.561000	0.74099	TCC		0.567	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		18	22	0	0	0	0	18	22				
LGR6	59352	broad.mit.edu	37	1	202287594	202287594	+	Silent	SNP	G	G	A	rs140182035		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:202287594G>A	ENST00000367278.3	+	18	2252	c.2163G>A	c.(2161-2163)gcG>gcA	p.A721A	LGR6_ENST00000255432.7_Silent_p.A669A|LGR6_ENST00000439764.2_Silent_p.A582A	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	721					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGCCCTACGCGCCACCTGAGG	0.667																																						uc001gxu.2		NA																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(2161-2163)GCG>GCA		leucine-rich repeat-containing G protein-coupled		G	,,	1,4405	2.1+/-5.4	0,1,2202	45.0	41.0	42.0		2163,1746,2007	-3.3	0.7	1	dbSNP_134	42	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	721/968,582/829,669/916	202287594	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287594G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2163G>A	1.37:g.202287594G>A						LGR6_uc001gxv.2_Silent_p.A669A|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.A582A	p.A721A	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			18	2163	+			721			Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.2163G>A	CCDS30971.1																																																																																				0.667	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		10	33	0	0	0	0	10	33				
PPFIA4	8497	broad.mit.edu	37	1	203008176	203008176	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:203008176C>T	ENST00000447715.2	+	6	481	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000367240.2_Silent_p.L14L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	14					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						GGGGGACCGCCTGGGTCCCCC	0.622											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009xaj.2		NA																	0				ovary(4)|skin(1)	5						c.(481-483)CTG>TTG		SubName: Full=Liprin alpha4;							9.0	9.0	9.0					1																	203008176		871	1978	2849	SO:0001819	synonymous_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203008176C>T	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.40C>T	1.37:g.203008176C>T			OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.L161L			O75335	LIPA4_HUMAN			6	481	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37	c.481C>T																																																																																					0.622	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		3	11	0	0	0	0	3	11				
TMCC2	9911	broad.mit.edu	37	1	205238351	205238351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:205238351C>T	ENST00000358024.3	+	3	1410	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	TMCC2_ENST00000330675.7_Nonsense_Mutation_p.Q116*|TMCC2_ENST00000329800.7_Nonsense_Mutation_p.Q101*|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Nonsense_Mutation_p.Q263*	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	341						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAAGAAGAACCAGAAGTCAGC	0.592																																						uc001hbz.1		NA																	0				pancreas(1)	1						c.(1021-1023)CAG>TAG		transmembrane and coiled-coil domain family 2							58.0	47.0	51.0					1																	205238351		2203	4300	6503	SO:0001587	stop_gained	9911					integral to membrane	protein binding	g.chr1:205238351C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1021C>T	1.37:g.205238351C>T	ENSP00000350718:p.Gln341*					TMCC2_uc010prf.1_Nonsense_Mutation_p.Q263*|TMCC2_uc001hca.2_Nonsense_Mutation_p.Q116*|TMCC2_uc001hcb.1_Nonsense_Mutation_p.Q101*|TMCC2_uc001hcc.1_5'UTR|TMCC2_uc001hcd.2_Nonsense_Mutation_p.Q108*	p.Q341*	NM_014858	NP_055673	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		4	1465	+	Breast(84;0.0871)		341			Potential.		A2RRH3|B7Z1P7|Q6ZN09	Nonsense_Mutation	SNP	ENST00000358024.3	37	c.1021C>T	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	C	36	5.828854	0.96996	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000367159;ENST00000330675;ENST00000329800	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.3957	0.94605	0.0:1.0:0.0:0.0	.	.	.	.	X	341;263;145;116;101	.	ENSP00000329436:Q101X	Q	+	1	0	TMCC2	203504974	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.687000	0.91594	0.462000	0.41574	CAG		0.592	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		4	45	0	0	0	0	4	45				
IL19	29949	broad.mit.edu	37	1	206972269	206972269	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:206972269A>T	ENST00000340758.2	+	1	55	c.30A>T	c.(28-30)agA>agT	p.R10S		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TTCCGCACAGATCTGCGTGTT	0.478																																						uc001heo.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(28-30)AGA>AGT		interleukin 19 isoform 1 precursor							181.0	146.0	158.0					1																	206972269		2203	4300	6503	SO:0001583	missense	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:206972269A>T	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000340758.2:c.30A>T	1.37:g.206972269A>T	ENSP00000343000:p.Arg10Ser						p.R10S	NM_153758	NP_715639	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		1	55	+			Error:Variant_position_missing_in_Q9UHD0_after_alignment					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000340758.2	37	c.30A>T	CCDS1468.1	.	.	.	.	.	.	.	.	.	.	A	1.255	-0.617453	0.03663	.	.	ENSG00000142224	ENST00000340758	T	0.36699	1.24	4.05	2.94	0.34122	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.16012	-1.0417	9	0.87932	D	0	.	5.42	0.16396	0.8679:0.0:0.1321:0.0	.	10	Q5VUT3	.	S	10	ENSP00000343000:R10S	ENSP00000343000:R10S	R	+	3	2	IL19	205038892	0.000000	0.05858	0.005000	0.12908	0.011000	0.07611	0.340000	0.19892	0.921000	0.36994	0.533000	0.62120	AGA		0.478	IL19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088566.3	NM_153758		34	80	0	0	0	0	34	80				
LYST	1130	broad.mit.edu	37	1	235904812	235904812	+	Silent	SNP	G	G	A	rs141534829		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:235904812G>A	ENST00000389794.3	-	31	8442	c.8268C>T	c.(8266-8268)caC>caT	p.H2756H	LYST_ENST00000389793.2_Silent_p.H2756H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2756					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.H2756H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGTGCAGCGTGGGCTGGCG	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19388	0.0		0.0	False		,,,				2504	0.0					uc001hxj.2		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(8266-8268)CAC>CAT		lysosomal trafficking regulator		G		6,4400	11.4+/-27.6	0,6,2197	176.0	154.0	162.0		8268	3.8	1.0	1	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LYST	NM_000081.2		0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538		2756/3802	235904812	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235904812G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8268C>T	1.37:g.235904812G>A						LYST_uc009xga.1_Silent_p.H392H	p.H2756H	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		31	8443	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2756					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.8268C>T	CCDS31062.1																																																																																				0.438	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			6	94	0	0	0	0	6	94				
HEATR1	55127	broad.mit.edu	37	1	236714247	236714247	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:236714247C>T	ENST00000366582.3	-	45	6504	c.6390G>A	c.(6388-6390)caG>caA	p.Q2130Q	LGALS8_ENST00000526589.1_3'UTR|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000366584.4_3'UTR|HEATR1_ENST00000366581.2_Silent_p.Q2049Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2130					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTCCAGTTGCTGAATAGTCT	0.373																																						uc001hyd.1		NA																	0				ovary(2)|skin(1)	3						c.(6388-6390)CAG>CAA		protein BAP28							136.0	135.0	136.0					1																	236714247		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236714247C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6390G>A	1.37:g.236714247C>T						HEATR1_uc009xgh.1_Silent_p.Q1292Q	p.Q2130Q	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		45	6515	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	2130			HEAT.		Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.6390G>A	CCDS31066.1																																																																																				0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		30	38	0	0	0	0	30	38				
MLLT10	8028	broad.mit.edu	37	10	22021981	22021981	+	Missense_Mutation	SNP	C	C	T	rs368104484		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:22021981C>T	ENST00000307729.7	+	18	2550	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	MLLT10_ENST00000377059.3_Missense_Mutation_p.P791L|MLLT10_ENST00000377072.3_Missense_Mutation_p.P807L|MLLT10_ENST00000446906.2_Missense_Mutation_p.P791L			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	791					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P807L(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AATCCTAGTCCGTCTCATCAA	0.338			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2		NA		Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		1	Substitution - Missense(1)		large_intestine(1)	lung(1)|skin(1)	2						c.(2419-2421)CCG>CTG		myeloid/lymphoid or mixed-lineage leukemia		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	103.0	98.0	100.0		2372,2420	6.0	1.0	10		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MLLT10	NM_001195626.1,NM_004641.3	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	791/1069,807/1028	22021981	1,13005	2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22021981C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2372C>T	10.37:g.22021981C>T	ENSP00000307411:p.Pro791Leu					MLLT10_uc001iqt.2_Missense_Mutation_p.P791L|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.P791L|MLLT10_uc001ira.2_Missense_Mutation_p.P248L|MLLT10_uc001irb.2_RNA	p.P807L	NM_004641	NP_004632	P55197	AF10_HUMAN			19	2768	+			807					B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2420C>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341277	0.81911	0.0	1.16E-4	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.15372	2.44;2.45;2.43;2.45	6.01	6.01	0.97437	.	0.422646	0.28940	N	0.013659	T	0.35393	0.0930	L	0.44542	1.39	0.80722	D	1	D;D;P;D	0.76494	0.999;0.998;0.897;0.998	P;P;B;P	0.62560	0.904;0.608;0.148;0.608	T	0.00726	-1.1592	10	0.62326	D	0.03	.	20.5182	0.99214	0.0:1.0:0.0:0.0	.	486;791;791;807	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	L	807;791;791;626;791	ENSP00000366272:P807L;ENSP00000401406:P791L;ENSP00000307411:P791L;ENSP00000366258:P791L	ENSP00000307411:P791L	P	+	2	0	MLLT10	22061987	0.781000	0.28676	0.953000	0.39169	0.997000	0.91878	2.107000	0.41844	2.860000	0.98153	0.655000	0.94253	CCG		0.338	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			7	67	0	0	0	0	7	67				
RASSF4	83937	broad.mit.edu	37	10	45484754	45484754	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:45484754G>A	ENST00000340258.5	+	7	677	c.564G>A	c.(562-564)gtG>gtA	p.V188V	RASSF4_ENST00000334940.6_Silent_p.V197V|RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	802	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATGGATCCGTGACCAATGTGA	0.562																																						uc001jbo.2		NA																	0				large_intestine(1)	1						c.(562-564)GTG>GTA		Ras association domain family 4							110.0	90.0	97.0					10																	45484754		2203	4300	6503	SO:0001819	synonymous_variant	83937				cell cycle|signal transduction		protein binding	g.chr10:45484754G>A	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.564G>A	10.37:g.45484754G>A						RASSF4_uc001jbp.2_Silent_p.V219V|RASSF4_uc009xmn.2_Silent_p.V118V|RASSF4_uc001jbq.2_Silent_p.V85V|RASSF4_uc001jbt.2_Silent_p.V145V	p.V188V	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN			7	698	+			188			Ras-associating.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000340258.5	37	c.564G>A	CCDS7208.1																																																																																				0.562	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		11	31	0	0	0	0	11	31				
MYPN	84665	broad.mit.edu	37	10	69925475	69925475	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:69925475G>A	ENST00000358913.5	+	9	1988	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L	MYPN_ENST00000540630.1_Silent_p.L500L|MYPN_ENST00000354393.2_Silent_p.L225L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	500	Ig-like 2.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTTGCACCTTGGTCATTGCTG	0.413																																						uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(1498-1500)TTG>TTA		myopalladin							135.0	115.0	122.0					10																	69925475		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69925475G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1500G>A	10.37:g.69925475G>A						MYPN_uc001jnl.1_Silent_p.L500L|MYPN_uc001jnn.3_Silent_p.L225L|MYPN_uc001jno.3_Silent_p.L500L|MYPN_uc009xps.2_Silent_p.L500L|MYPN_uc009xpt.2_Silent_p.L500L|MYPN_uc010qit.1_Silent_p.L206L|MYPN_uc010qiu.1_RNA	p.L500L	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			10	1685	+			500			Interaction with CARP.|Ig-like 2.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.1500G>A	CCDS7275.1																																																																																				0.413	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		5	44	0	0	0	0	5	44				
RUFY2	55680	broad.mit.edu	37	10	70139220	70139220	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:70139220G>C	ENST00000602465.1	-	12	1266	c.1166C>G	c.(1165-1167)aCc>aGc	p.T389S	RUFY2_ENST00000472394.2_5'Flank|RUFY2_ENST00000399200.2_Missense_Mutation_p.T355S|RUFY2_ENST00000454950.2_Missense_Mutation_p.T331S|RUFY2_ENST00000388768.2_Missense_Mutation_p.T424S|RUFY2_ENST00000265865.3_5'Flank			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	438						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTTTATTGGTTTTTTCTTC	0.338																																						uc001job.2		NA																	0				ovary(1)	1						c.(1270-1272)ACC>AGC		RUN and FYVE domain-containing 2 isoform a							117.0	118.0	118.0					10																	70139220		1826	4078	5904	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70139220G>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1166C>G	10.37:g.70139220G>C	ENSP00000473462:p.Thr389Ser					RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_5'Flank|RUFY2_uc001joc.2_Missense_Mutation_p.T355S|RUFY2_uc010qiw.1_Missense_Mutation_p.T331S|RUFY2_uc001jod.1_Missense_Mutation_p.T389S	p.T424S	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			12	1598	-			438			Potential.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.1271C>G		.	.	.	.	.	.	.	.	.	.	G	13.33	2.205384	0.39003	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	T;T;T	0.53640	0.61;1.89;1.46	4.84	2.9	0.33743	.	0.106288	0.64402	D	0.000005	T	0.41949	0.1181	L	0.56280	1.765	0.48395	D	0.999643	B;B;B;B	0.28178	0.009;0.202;0.073;0.143	B;B;B;B	0.32289	0.007;0.084;0.06;0.143	T	0.17684	-1.0361	10	0.11485	T	0.65	.	13.7045	0.62629	0.0:0.0:0.7038:0.2962	.	331;389;355;424	B4DFR0;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	S	424;355;331	ENSP00000373420:T424S;ENSP00000382151:T355S;ENSP00000404986:T331S	ENSP00000373420:T424S	T	-	2	0	RUFY2	69809226	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.722000	0.61958	0.681000	0.31386	0.491000	0.48974	ACC		0.338	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		8	64	0	0	0	0	8	64				
CFAP70	118491	broad.mit.edu	37	10	75059376	75059376	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:75059376C>T	ENST00000310715.3	-	14	1634	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.G505E|snoU13_ENST00000459292.1_RNA|TTC18_ENST00000394865.1_Missense_Mutation_p.G505E	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		505						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTGAGCTCCTCCTGTCCGACG	0.363																																						uc009xrc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1513-1515)GGA>GAA		tetratricopeptide repeat domain 18							74.0	69.0	71.0					10																	75059376		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75059376C>T																												ENST00000310715.3:c.1514G>A	10.37:g.75059376C>T	ENSP00000310829:p.Gly505Glu					TTC18_uc001jty.2_Missense_Mutation_p.G505E|TTC18_uc009xrd.1_Missense_Mutation_p.G319E|TTC18_uc001jtx.2_5'Flank	p.G505E	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			14	1635	-	Prostate(51;0.0119)		505					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.1514G>A	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922932	0.73213	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	D;D;D	0.92965	-3.14;-3.14;-3.14	5.81	5.81	0.92471	.	0.127020	0.53938	D	0.000041	D	0.93067	0.7793	L	0.60455	1.87	0.44359	D	0.997254	D;D	0.59357	0.957;0.985	P;P	0.53518	0.728;0.614	D	0.91700	0.5373	10	0.34782	T	0.22	-5.5272	15.5759	0.76387	0.0:1.0:0.0:0.0	.	505;505	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	E	505	ENSP00000310829:G505E;ENSP00000384479:G505E;ENSP00000378334:G505E	ENSP00000310829:G505E	G	-	2	0	TTC18	74729382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.624000	0.24462	2.763000	0.94921	0.650000	0.86243	GGA		0.363	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				14	27	0	0	0	0	14	27				
AGAP5	729092	broad.mit.edu	37	10	75457405	75457405	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:75457405C>A	ENST00000374094.4	-	1	149	c.109G>T	c.(109-111)Ggg>Tgg	p.G37W	AGAP5_ENST00000443782.2_Missense_Mutation_p.G37W|RP11-574K11.28_ENST00000580790.1_RNA|RP11-464F9.1_ENST00000399449.3_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	37					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						ATCCTGTCCCCAGCTCCTGCC	0.582																																						uc009xri.2		NA																	0					0						c.(109-111)GGG>TGG		ArfGAP with GTPase domain, ankyrin repeat and PH							53.0	61.0	59.0					10																	75457405		692	1590	2282	SO:0001583	missense	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75457405C>A		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.109G>T	10.37:g.75457405C>A	ENSP00000363207:p.Gly37Trp					AGAP5_uc001juu.3_5'UTR	p.G37W	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN			1	150	-			37					A8MSN5	Missense_Mutation	SNP	ENST00000374094.4	37	c.109G>T	CCDS44439.1	.	.	.	.	.	.	.	.	.	.	-	13.77	2.335154	0.41398	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	D;D	0.88509	-2.39;-2.39	1.4	1.4	0.22301	.	0.060847	0.64402	D	0.000005	D	0.83348	0.5235	M	0.66939	2.045	0.22001	N	0.999424	P	0.34699	0.464	B	0.28305	0.088	T	0.77219	-0.2668	10	0.87932	D	0	.	6.2475	0.20827	0.0:1.0:0.0:0.0	.	37	A6NIR3	AGAP5_HUMAN	W	37	ENSP00000363207:G37W;ENSP00000402792:G37W	ENSP00000363207:G37W	G	-	1	0	AGAP5	75127411	0.974000	0.33945	0.971000	0.41717	0.049000	0.14656	1.243000	0.32767	1.094000	0.41399	0.184000	0.17185	GGG		0.582	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		8	151	1	0	0.00307968	0.00876174	8	151				
BTRC	8945	broad.mit.edu	37	10	103291078	103291078	+	Silent	SNP	A	A	T	rs146435684		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:103291078A>T	ENST00000370187.3	+	7	946	c.828A>T	c.(826-828)atA>atT	p.I276I	BTRC_ENST00000408038.2_Silent_p.I240I|BTRC_ENST00000393441.4_Silent_p.I235I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	276					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTAAAATTATACAAGACATTG	0.368																																						uc001kta.2		NA																	0				ovary(1)	1						c.(826-828)ATA>ATT		beta-transducin repeat containing protein							72.0	79.0	77.0					10																	103291078		2203	4300	6503	SO:0001819	synonymous_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103291078A>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.828A>T	10.37:g.103291078A>T						BTRC_uc001ktb.2_Silent_p.I240I|BTRC_uc001ktc.2_Silent_p.I250I	p.I276I	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	7	941	+		Colorectal(252;0.234)	276					B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	c.828A>T	CCDS7512.1																																																																																				0.368	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		24	50	0	0	0	0	24	50				
POLL	27343	broad.mit.edu	37	10	103343337	103343337	+	Silent	SNP	G	G	A	rs148400497		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:103343337G>A	ENST00000370162.3	-	6	1487	c.993C>T	c.(991-993)agC>agT	p.S331S	POLL_ENST00000370158.3_Silent_p.S56S|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Silent_p.S331S|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000436284.2_3'UTR|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000299206.4_Silent_p.S331S|POLL_ENST00000370168.3_5'Flank	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	331					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0008	0.0	5008	,	,		21195	0.0		0.0	False		,,,				2504	0.0					uc001ktg.1		NA																	0					0						c.(991-993)AGC>AGT	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase lambda		G	,,	2,4404	4.2+/-10.8	0,2,2201	116.0	94.0	101.0		993,717,993	-7.0	0.1	10	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	,,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,,	331/576,239/484,331/576	103343337	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103343337G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.993C>T	10.37:g.103343337G>A						DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_Silent_p.S23S|POLL_uc001kth.1_Silent_p.S56S|POLL_uc001kti.1_Silent_p.S331S|POLL_uc001ktj.1_Silent_p.S331S|POLL_uc001ktf.2_Silent_p.S239S|POLL_uc001ktk.1_Silent_p.S70S|POLL_uc010qqa.1_Silent_p.S70S|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Silent_p.S331S|POLL_uc001ktl.2_Silent_p.S243S|POLL_uc010qqc.1_Silent_p.S23S|POLL_uc010qqd.1_3'UTR	p.S331S	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	5	1759	-		Colorectal(252;0.234)	331					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Silent	SNP	ENST00000370162.3	37	c.993C>T	CCDS7513.1																																																																																				0.562	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		15	29	0	0	0	0	15	29				
PLEKHS1	79949	broad.mit.edu	37	10	115534710	115534710	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:115534710C>A	ENST00000369310.3	+	9	1449	c.887C>A	c.(886-888)tCc>tAc	p.S296Y	PLEKHS1_ENST00000369309.1_Missense_Mutation_p.S116Y|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.S214Y|PLEKHS1_ENST00000354462.3_Missense_Mutation_p.S46Y|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.S302Y	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	296																	TGGTGTCTTTCCCCTGCCGAT	0.488																																						uc001lat.1		NA																	0				central_nervous_system(1)	1						c.(886-888)TCC>TAC		hypothetical protein LOC79949							94.0	81.0	86.0					10																	115534710		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115534710C>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.887C>A	10.37:g.115534710C>A	ENSP00000358316:p.Ser296Tyr					C10orf81_uc001lar.1_Missense_Mutation_p.S302Y|C10orf81_uc009xyc.1_Missense_Mutation_p.S214Y|C10orf81_uc001las.1_Missense_Mutation_p.S214Y|C10orf81_uc001lau.1_Missense_Mutation_p.S116Y	p.S296Y	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN		Epithelial(162;0.0181)|all cancers(201;0.0204)	9	1449	+		Colorectal(252;0.175)	296					A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.887C>A	CCDS53580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.973|5.973	0.363548|0.363548	0.11296|0.11296	.|.	.|.	ENSG00000148735|ENSG00000148735	ENST00000448805|ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309;ENST00000354462	.|T;T;T;T;T	.|0.34472	.|1.36;1.36;1.36;1.36;1.36	5.49|5.49	2.53|2.53	0.30540|0.30540	.|.	.|0.568511	.|0.18319	.|N	.|0.144845	T|T	0.37183|0.37183	0.0994|0.0994	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|P;P;P;P	.|0.46457	.|0.878;0.631;0.85;0.795	.|P;B;P;P	.|0.49999	.|0.628;0.165;0.525;0.51	T|T	0.16453|0.16453	-1.0402|-1.0402	5|10	.|0.62326	.|D	.|0.03	2.0513|2.0513	6.0858|6.0858	0.19966|0.19966	0.0:0.6755:0.1534:0.1711|0.0:0.6755:0.1534:0.1711	.|.	.|296;296;296;302	.|Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.|CJ081_HUMAN;.;.;.	L|Y	12|302;214;296;116;46	.|ENSP00000354332:S302Y;ENSP00000358318:S214Y;ENSP00000358316:S296Y;ENSP00000358315:S116Y;ENSP00000346451:S46Y	.|ENSP00000346451:S46Y	F|S	+|+	3|2	2|0	C10orf81|C10orf81	115524700|115524700	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.019000|0.019000	0.09904|0.09904	0.594000|0.594000	0.24014|0.24014	0.250000|0.250000	0.21479|0.21479	-0.216000|-0.216000	0.12614|0.12614	TTC|TCC		0.488	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		12	28	1	0	0.00010058	0.000294856	12	28				
GRK5	2869	broad.mit.edu	37	10	121182709	121182709	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:121182709A>C	ENST00000392870.2	+	5	700	c.371A>C	c.(370-372)gAc>gCc	p.D124A	GRK5_ENST00000369108.3_Missense_Mutation_p.D19A	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	124	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GTTGGCCAAGACCTGGTCTCC	0.582																																						uc001led.2		NA																	0				lung(2)|stomach(1)	3						c.(370-372)GAC>GCC		G protein-coupled receptor kinase 5							249.0	249.0	249.0					10																	121182709		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121182709A>C	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.371A>C	10.37:g.121182709A>C	ENSP00000376609:p.Asp124Ala					GRK5_uc009xzh.2_Missense_Mutation_p.D19A|GRK5_uc010qta.1_Missense_Mutation_p.D19A	p.D124A	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	5	604	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	124			N-terminal.|RGS.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.371A>C	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518408	0.44763	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.01854	4.6;4.6	4.71	4.71	0.59529	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000012	T	0.03011	0.0089	L	0.45352	1.415	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.51228	-0.8732	10	0.24483	T	0.36	-13.7033	14.2087	0.65750	1.0:0.0:0.0:0.0	.	124;124	B2R7K0;P34947	.;GRK5_HUMAN	A	124;19;19	ENSP00000376609:D124A;ENSP00000358104:D19A	ENSP00000358104:D19A	D	+	2	0	GRK5	121172699	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	3.831000	0.55776	1.760000	0.52011	0.460000	0.39030	GAC		0.582	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		51	152	0	0	0	0	51	152				
PPAPDC1A	196051	broad.mit.edu	37	10	122280508	122280508	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:122280508T>A	ENST00000398250.1	+	5	698	c.346T>A	c.(346-348)Tgc>Agc	p.C116S	PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.C116S|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.C106S	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	116					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTTTTACCGCTGCTTTCCAGA	0.512																																						uc001lev.1		NA																	0				breast(1)	1						c.(346-348)TGC>AGC		phosphatidic acid phosphatase type 2 domain							93.0	92.0	93.0					10																	122280508		1879	4105	5984	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122280508T>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.346T>A	10.37:g.122280508T>A	ENSP00000381302:p.Cys116Ser					PPAPDC1A_uc010qtd.1_Missense_Mutation_p.C116S|PPAPDC1A_uc009xzl.1_Intron|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Intron	p.C116S	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	5	698	+		Lung NSC(174;0.1)|all_lung(145;0.132)	116					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.346T>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.872719	0.91587	.	.	ENSG00000203805	ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.75	5.75	0.90469	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92596	0.7648	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	0.974;1.0	D;D	0.97110	0.98;1.0	D	0.95765	0.8804	10	0.87932	D	0	-23.9746	16.0707	0.80928	0.0:0.0:0.0:1.0	.	116;116	B7Z3R3;Q5VZY2	.;PPC1A_HUMAN	S	116;116;116;106	ENSP00000381302:C116S;ENSP00000407979:C116S;ENSP00000440493:C116S;ENSP00000358069:C106S	ENSP00000358069:C106S	C	+	1	0	PPAPDC1A	122270498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.194000	0.70268	0.533000	0.62120	TGC		0.512	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		21	57	0	0	0	0	21	57				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	A	rs121913233		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:533874T>A	ENST00000451590.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000417302.1_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2	Q61L(KNS62_LUNG)|Q61L(NCIH1915_LUNG)|Q61L(KYSE30_OESOPHAGUS)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		256	Substitution - Missense(256)	p.Q61R(112)|p.Q61L(93)|p.Q61K(39)|p.Q61H(20)|p.Q61P(3)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749						c.(181-183)CAG>CTG		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>T	11.37:g.533874T>A	ENSP00000407586:p.Gln61Leu	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.Q61L|HRAS_uc010qvx.1_Missense_Mutation_p.Q61L|HRAS_uc010qvy.1_RNA	p.Q61L	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	370	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61	Q->V: Strongly increased transformation of cultured cell lines.|Q->I: Moderately increased transformation of cultured cell lines.	Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940577	0.52972	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89167	0.6638	H	0.97131	3.945	0.80722	D	1	P;P	0.36412	0.507;0.552	B;B	0.40329	0.145;0.326	D	0.91290	0.5058	10	0.72032	D	0.01	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	L	61	ENSP00000380722:Q61L;ENSP00000380723:Q61L;ENSP00000407586:Q61L;ENSP00000388246:Q61L;ENSP00000309845:Q61L	ENSP00000309845:Q61L	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		22	55	0	0	0	0	22	55				
EPS8L2	64787	broad.mit.edu	37	11	720677	720677	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:720677G>A	ENST00000533256.1	+	7	783	c.408G>A	c.(406-408)ctG>ctA	p.L136L	EPS8L2_ENST00000318562.8_Silent_p.L136L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Silent_p.L152L|EPS8L2_ENST00000530636.1_Silent_p.L136L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	136	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTCTGTGCTGCTGCTCGTGT	0.677																																						uc001lqt.2		NA																	0				pancreas(1)	1						c.(406-408)CTG>CTA		epidermal growth factor receptor pathway							22.0	21.0	21.0					11																	720677		2194	4294	6488	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:720677G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.408G>A	11.37:g.720677G>A						EPS8L2_uc010qwj.1_Silent_p.L152L|EPS8L2_uc001lqu.2_Silent_p.L136L|EPS8L2_uc010qwk.1_Silent_p.L152L|EPS8L2_uc001lqv.2_Silent_p.L91L|EPS8L2_uc001lqw.2_5'Flank|EPS8L2_uc001lqx.2_5'Flank	p.L136L	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	655	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	136			PID.		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.408G>A	CCDS31328.1																																																																																				0.677	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		5	7	0	0	0	0	5	7				
EIF3M	10480	broad.mit.edu	37	11	32615476	32615476	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:32615476G>T	ENST00000531120.1	+	6	661	c.598G>T	c.(598-600)Gct>Tct	p.A200S	EIF3M_ENST00000524896.1_Missense_Mutation_p.A68S	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TGCTTCCCAGGCTCGAGTTGA	0.393																																						uc001mtu.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(598-600)GCT>TCT		eukaryotic translation initiation factor 3,							123.0	109.0	114.0					11																	32615476		2202	4299	6501	SO:0001583	missense	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32615476G>T	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.598G>T	11.37:g.32615476G>T	ENSP00000436049:p.Ala200Ser					EIF3M_uc010ref.1_Missense_Mutation_p.A68S	p.A200S	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN			6	641	+	Breast(20;0.109)		200						Missense_Mutation	SNP	ENST00000531120.1	37	c.598G>T	CCDS7880.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778763	0.90195	.	.	ENSG00000149100	ENST00000531120;ENST00000524896;ENST00000323213;ENST00000526267	T;T;T	0.55052	1.07;0.54;0.58	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	M	0.73598	2.24	0.80722	D	1	P;P	0.51449	0.945;0.734	P;B	0.51101	0.659;0.196	T	0.64605	-0.6368	10	0.41790	T	0.15	-24.1495	20.6439	0.99570	0.0:0.0:1.0:0.0	.	68;200	B4E2Q4;Q7L2H7	.;EIF3M_HUMAN	S	200;68;137;41	ENSP00000436049:A200S;ENSP00000436787:A68S;ENSP00000432139:A41S	ENSP00000319910:A137S	A	+	1	0	EIF3M	32572052	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.440000	0.97547	2.890000	0.99128	0.650000	0.86243	GCT		0.393	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		13	25	1	0	0.000219431	0.000638421	13	25				
C11orf84	144097	broad.mit.edu	37	11	63585325	63585325	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:63585325C>A	ENST00000294244.4	+	2	475	c.176C>A	c.(175-177)gCa>gAa	p.A59E		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	59										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CCGCTAGAGGCAGGCAGTGAT	0.637																																						uc001nxt.2		NA																	0					0						c.(175-177)GCA>GAA		hypothetical protein LOC144097							40.0	35.0	36.0					11																	63585325		2201	4297	6498	SO:0001583	missense	144097							g.chr11:63585325C>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.176C>A	11.37:g.63585325C>A	ENSP00000294244:p.Ala59Glu						p.A59E	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN			2	412	+			59					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.176C>A	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438343	0.62955	.	.	ENSG00000168005	ENST00000294244	T	0.46063	0.88	5.24	3.26	0.37387	.	1.177730	0.06190	N	0.681107	T	0.35307	0.0927	L	0.51422	1.61	0.09310	N	0.999991	P	0.36837	0.571	B	0.29598	0.104	T	0.35201	-0.9798	10	0.87932	D	0	-3.2663	6.509	0.22212	0.0:0.7201:0.1828:0.0971	.	59	Q9BUA3	CK084_HUMAN	E	59	ENSP00000294244:A59E	ENSP00000294244:A59E	A	+	2	0	C11orf84	63341901	0.524000	0.26282	0.570000	0.28473	0.015000	0.08874	1.277000	0.33167	1.233000	0.43693	0.561000	0.74099	GCA		0.637	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		4	12	1	0	2.56e-06	7.76e-06	4	12				
KRTAP5-10	387273	broad.mit.edu	37	11	71277066	71277066	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:71277066T>C	ENST00000398531.1	+	1	458	c.433T>C	c.(433-435)Tgt>Cgt	p.C145R	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.C97R	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	145	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTGCAATTGCTGTAAGCCctg	0.647																																						uc001oqt.1		NA																	0				skin(1)	1						c.(433-435)TGT>CGT		keratin associated protein 5-10							84.0	107.0	99.0					11																	71277066		2200	4293	6493	SO:0001583	missense	387273					keratin filament		g.chr11:71277066T>C	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.433T>C	11.37:g.71277066T>C	ENSP00000381542:p.Cys145Arg						p.C145R	NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN			1	458	+			145			3.|7 X 4 AA repeats of C-C-X-P.		B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	c.433T>C	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	.	0.773	-0.765051	0.02996	.	.	ENSG00000204572	ENST00000398531;ENST00000376536	T;T	0.01430	4.9;5.41	1.95	1.95	0.26073	.	.	.	.	.	T	0.02455	0.0075	M	0.82823	2.61	0.26601	N	0.973012	P	0.39964	0.697	B	0.32289	0.143	T	0.32161	-0.9917	9	0.59425	D	0.04	.	7.808	0.29215	0.0:0.0:0.0:1.0	.	145	Q6L8G5	KR510_HUMAN	R	145;97	ENSP00000381542:C145R;ENSP00000365719:C97R	ENSP00000365719:C97R	C	+	1	0	KRTAP5-10	70954714	0.732000	0.28121	0.410000	0.26471	0.005000	0.04900	0.567000	0.23608	1.160000	0.42584	0.383000	0.25322	TGT		0.647	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			47	102	0	0	0	0	47	102				
FAT3	120114	broad.mit.edu	37	11	92532912	92532912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:92532912C>T	ENST00000298047.6	+	9	6750	c.6733C>T	c.(6733-6735)Cct>Tct	p.P2245S	FAT3_ENST00000525166.1_Missense_Mutation_p.P2095S|FAT3_ENST00000409404.2_Missense_Mutation_p.P2245S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2245	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)				AGTTGTTAGCCCTTTGGATTA	0.438										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(6733-6735)CCT>TCT		FAT tumor suppressor homolog 3							66.0	61.0	62.0					11																	92532912		1902	4122	6024	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532912C>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.6733C>T	11.37:g.92532912C>T	ENSP00000298047:p.Pro2245Ser	TCGA Ovarian(4;0.039)					p.P2245S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	6750	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2245			Cadherin 20.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6733C>T		.	.	.	.	.	.	.	.	.	.	C	14.49	2.551089	0.45383	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.54675	0.56;0.56;0.56	5.94	5.94	0.96194	.	.	.	.	.	T	0.49270	0.1547	L	0.38953	1.18	0.80722	D	1	B	0.29766	0.256	B	0.33295	0.161	T	0.34254	-0.9836	9	0.31617	T	0.26	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	2245	Q8TDW7-3	.	S	2245;2245;2095	ENSP00000298047:P2245S;ENSP00000387040:P2245S;ENSP00000432586:P2095S	ENSP00000298047:P2245S	P	+	1	0	FAT3	92172560	0.964000	0.33143	1.000000	0.80357	0.996000	0.88848	1.541000	0.36126	2.820000	0.97059	0.650000	0.86243	CCT		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	16	0	0	0	0	7	16				
HEPHL1	341208	broad.mit.edu	37	11	93806191	93806191	+	Splice_Site	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:93806191T>G	ENST00000315765.9	+	7	1241	c.1233T>G	c.(1231-1233)agT>agG	p.S411R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	411	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTCTTTTCAGTGACTCTGATC	0.368																																						uc001pep.2		NA																	0				ovary(3)	3						c.(1231-1233)AGT>AGG		hephaestin-like 1 precursor							66.0	62.0	63.0					11																	93806191		1883	4110	5993	SO:0001630	splice_region_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93806191T>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1233-1T>G	11.37:g.93806191T>G						uc001pen.1_Intron	p.S411R	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			7	1390	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	411			Plastocyanin-like 3.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.1233T>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419111	0.62622	.	.	ENSG00000181333	ENST00000315765	D	0.99005	-5.32	5.66	3.37	0.38596	Cupredoxin (2);	0.124872	0.64402	D	0.000001	D	0.97782	0.9272	L	0.56280	1.765	0.40428	D	0.979911	P	0.45569	0.861	P	0.48189	0.57	D	0.95651	0.8707	9	.	.	.	.	8.1937	0.31383	0.0:0.2164:0.0:0.7836	.	411	Q6MZM0	HPHL1_HUMAN	R	411	ENSP00000313699:S411R	.	S	+	3	2	HEPHL1	93445839	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.027000	0.30115	0.440000	0.26502	0.528000	0.53228	AGT		0.368	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	Missense_Mutation	8	21	0	0	0	0	8	21				
CADM1	23705	broad.mit.edu	37	11	115102137	115102137	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:115102137G>A	ENST00000452722.3	-	4	518	c.498C>T	c.(496-498)tgC>tgT	p.C166C	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000542447.2_Silent_p.C166C|CADM1_ENST00000537058.1_Silent_p.C166C|CADM1_ENST00000536727.1_Silent_p.C166C|CADM1_ENST00000331581.6_Silent_p.C166C	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCATAGCAGTGCAGTTGACTT	0.458																																						uc001ppi.3		NA																	0				ovary(2)	2						c.(496-498)TGC>TGT		immunoglobulin superfamily, member 4D isoform 1							271.0	224.0	240.0					11																	115102137		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115102137G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.498C>T	11.37:g.115102137G>A						CADM1_uc001ppf.3_Silent_p.C166C|CADM1_uc001ppk.3_Silent_p.C166C|CADM1_uc001ppj.3_Silent_p.C166C|CADM1_uc001ppl.2_Silent_p.C166C	p.C166C	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	4	627	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	166			Ig-like C2-type 1.|Extracellular (Potential).			Silent	SNP	ENST00000452722.3	37	c.498C>T	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.01|11.01	1.513715|1.513715	0.27123|0.27123	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000543249|ENST00000545380	.|.	.|.	.|.	6.17|6.17	5.25|5.25	0.73442|0.73442	.|.	.|.	.|.	.|.	.|.	T|T	0.63873|0.63873	0.2548|0.2548	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62765|0.62765	-0.6785|-0.6785	4|4	.|.	.|.	.|.	.|.	11.9982|11.9982	0.53216|0.53216	0.1336:0.0:0.8664:0.0|0.1336:0.0:0.8664:0.0	.|.	.|.	.|.	.|.	V|Y	150|165	.|.	.|.	A|H	-|-	2|1	0|0	CADM1|CADM1	114607347|114607347	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.621000|4.621000	0.61233|0.61233	1.596000|1.596000	0.50062|0.50062	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.458	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		29	56	0	0	0	0	29	56				
BSX	390259	broad.mit.edu	37	11	122852272	122852272	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:122852272C>T	ENST00000343035.2	-	1	156	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	36					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGTCTGGGGCCACCTCTCTCA	0.612																																						uc010rzs.1		NA																	0					0						c.(106-108)GTG>GTA		brain specific homeobox							37.0	44.0	42.0					11																	122852272		2034	4180	6214	SO:0001819	synonymous_variant	390259							g.chr11:122852272C>T		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.108G>A	11.37:g.122852272C>T							p.V36V	NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	1	108	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	36						Silent	SNP	ENST00000343035.2	37	c.108G>A	CCDS41728.1																																																																																				0.612	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		3	4	0	0	0	0	3	4				
OR6T1	219874	broad.mit.edu	37	11	123814471	123814471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:123814471G>T	ENST00000321252.2	-	1	109	c.75C>A	c.(73-75)ttC>ttA	p.F25L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGAACACCAGGAACTGTATGA	0.488																																						uc010sab.1		NA																	0				ovary(1)	1						c.(73-75)TTC>TTA		olfactory receptor, family 6, subfamily T,							111.0	105.0	107.0					11																	123814471		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814471G>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.75C>A	11.37:g.123814471G>T	ENSP00000325203:p.Phe25Leu						p.F25L	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	75	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	25			Extracellular (Potential).		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.75C>A	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	6.068	0.380910	0.11466	.	.	ENSG00000181499	ENST00000321252	T	0.00402	7.56	3.74	-2.63	0.06133	.	.	.	.	.	T	0.00109	0.0003	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	9	0.41790	T	0.15	-11.9671	6.6286	0.22843	0.1797:0.411:0.4094:0.0	.	25	Q8NGN1	OR6T1_HUMAN	L	25	ENSP00000325203:F25L	ENSP00000325203:F25L	F	-	3	2	OR6T1	123319681	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-0.762000	0.04745	-0.333000	0.08476	0.655000	0.94253	TTC		0.488	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		36	74	1	0	5.44e-19	1.81e-18	36	74				
B4GALNT3	283358	broad.mit.edu	37	12	666883	666883	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:666883G>A	ENST00000266383.5	+	16	2503	c.2490G>A	c.(2488-2490)gaG>gaA	p.E830E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	830					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATAGCAGTGAGGACATGGATG	0.547																																						uc001qii.1		NA																	0				ovary(1)|skin(1)	2						c.(2488-2490)GAG>GAA		beta							72.0	63.0	66.0					12																	666883		2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:666883G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2490G>A	12.37:g.666883G>A						B4GALNT3_uc001qik.1_Silent_p.E379E	p.E830E	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		16	2490	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		830			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.2490G>A	CCDS8504.1																																																																																				0.547	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		14	21	0	0	0	0	14	21				
SOX5	6660	broad.mit.edu	37	12	23999030	23999030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:23999030G>A	ENST00000451604.2	-	3	469	c.368C>T	c.(367-369)tCc>tTc	p.S123F	SOX5_ENST00000545921.1_Missense_Mutation_p.S113F|SOX5_ENST00000309359.1_Missense_Mutation_p.S110F|SOX5_ENST00000381381.2_Missense_Mutation_p.S110F|SOX5_ENST00000546136.1_Missense_Mutation_p.S110F|SOX5_ENST00000441133.2_Missense_Mutation_p.S88F|SOX5_ENST00000537393.1_Missense_Mutation_p.S88F|SOX5_ENST00000541847.1_Missense_Mutation_p.S113F|SOX5_ENST00000541536.1_Missense_Mutation_p.S110F			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	123					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACTAGACAAGGACTCGCCACT	0.493																																						uc001rfw.2		NA																	0				ovary(5)|lung(1)	6						c.(367-369)TCC>TTC		SRY (sex determining region Y)-box 5 isoform a							135.0	121.0	126.0					12																	23999030		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23999030G>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.368C>T	12.37:g.23999030G>A	ENSP00000398273:p.Ser123Phe					SOX5_uc001rfx.2_Missense_Mutation_p.S110F|SOX5_uc001rfy.2_Missense_Mutation_p.S110F|SOX5_uc010siv.1_Missense_Mutation_p.S110F|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.S75F|SOX5_uc001rga.2_Missense_Mutation_p.S88F	p.S123F	NM_006940	NP_008871	P35711	SOX5_HUMAN			3	470	-			123					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.368C>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173133	0.57584	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.97161	-4.16;-4.16;-4.16;-4.16;-4.27;-4.16;-4.16	5.79	4.85	0.62838	.	0.466547	0.24935	N	0.034440	D	0.95169	0.8434	L	0.34521	1.04	0.41146	D	0.98599	D;P;B;B	0.54207	0.965;0.573;0.078;0.437	P;B;B;B	0.51135	0.66;0.257;0.031;0.174	D	0.92918	0.6353	10	0.10111	T	0.7	.	15.6637	0.77209	0.0:0.0:0.8623:0.1377	.	88;88;110;123	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	F	110;110;110;123;75;88;110;113;113;88;110	ENSP00000437487:S110F;ENSP00000308927:S110F;ENSP00000370788:S110F;ENSP00000398273:S123F;ENSP00000439832:S88F;ENSP00000441973:S110F;ENSP00000443520:S113F	ENSP00000308927:S110F	S	-	2	0	SOX5	23890297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.842000	0.69417	2.744000	0.94065	0.650000	0.86243	TCC		0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		33	53	0	0	0	0	33	53				
FAR2	55711	broad.mit.edu	37	12	29469874	29469874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:29469874G>A	ENST00000536681.3	+	9	1302	c.1056G>A	c.(1054-1056)tgG>tgA	p.W352*	FAR2_ENST00000182377.4_Nonsense_Mutation_p.W352*|FAR2_ENST00000547116.1_Nonsense_Mutation_p.W255*|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	352					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CACAGTACTGGAATGCGGTCA	0.498																																						uc001ris.3		NA																	0					0						c.(1054-1056)TGG>TGA		fatty acyl CoA reductase 2							142.0	148.0	146.0					12																	29469874		2203	4300	6503	SO:0001587	stop_gained	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29469874G>A	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1056G>A	12.37:g.29469874G>A	ENSP00000443291:p.Trp352*					FAR2_uc001rit.2_Nonsense_Mutation_p.W352*|FAR2_uc009zjm.2_Nonsense_Mutation_p.W255*|uc001riu.1_Intron	p.W352*	NM_018099	NP_060569	Q96K12	FACR2_HUMAN			9	1203	+			352					F8VV73|Q9H0D5|Q9NVW8	Nonsense_Mutation	SNP	ENST00000536681.3	37	c.1056G>A	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	G	39	7.694838	0.98438	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	.	.	.	4.44	4.44	0.53790	.	0.072254	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-20.8712	14.6326	0.68666	0.0:0.0:1.0:0.0	.	.	.	.	X	352;352;255	.	ENSP00000182377:W352X	W	+	3	0	FAR2	29361141	1.000000	0.71417	0.981000	0.43875	0.833000	0.47200	7.141000	0.77330	2.301000	0.77427	0.467000	0.42956	TGG		0.498	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		17	215	0	0	0	0	17	215				
LRRK2	120892	broad.mit.edu	37	12	40748281	40748281	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:40748281T>A	ENST00000298910.7	+	45	6815	c.6757T>A	c.(6757-6759)Ttt>Att	p.F2253I		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2253					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGCAATTCCTTTTCCAAGCA	0.373																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(6757-6759)TTT>ATT		leucine-rich repeat kinase 2							93.0	79.0	84.0					12																	40748281		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40748281T>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6757T>A	12.37:g.40748281T>A	ENSP00000298910:p.Phe2253Ile					LRRK2_uc009zjw.2_Missense_Mutation_p.F1091I|LRRK2_uc001rmi.2_Missense_Mutation_p.F1086I	p.F2253I	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			45	6878	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2253					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6757T>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620353	0.28801	.	.	ENSG00000188906	ENST00000298910	T	0.70986	-0.53	5.82	3.35	0.38373	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.470474	0.26776	N	0.022548	T	0.49712	0.1573	L	0.28274	0.84	0.20821	N	0.999846	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.30060	-0.9991	10	0.30078	T	0.28	.	2.1935	0.03905	0.1274:0.1472:0.1324:0.5931	.	2253;2253	Q17RV3;Q5S007	.;LRRK2_HUMAN	I	2253	ENSP00000298910:F2253I	ENSP00000298910:F2253I	F	+	1	0	LRRK2	39034548	0.957000	0.32711	0.994000	0.49952	0.990000	0.78478	1.213000	0.32407	0.413000	0.25759	0.529000	0.55759	TTT		0.373	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		8	20	0	0	0	0	8	20				
OR8S1	341568	broad.mit.edu	37	12	48920192	48920192	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:48920192C>G	ENST00000310194.1	+	1	778	c.778C>G	c.(778-780)Ctc>Gtc	p.L260V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCTCCGCCATCTCATGCCAAA	0.498																																						uc010slu.1		NA																	0				skin(1)	1						c.(778-780)CTC>GTC		olfactory receptor, family 8, subfamily S,							104.0	99.0	101.0					12																	48920192		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48920192C>G		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.778C>G	12.37:g.48920192C>G	ENSP00000310632:p.Leu260Val						p.L260V	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	778	+			260			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000310194.1	37	c.778C>G	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809117	0.31961	.	.	ENSG00000197376	ENST00000310194	T	0.39787	1.06	4.71	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.430079	0.17323	N	0.178425	T	0.39279	0.1072	L	0.41027	1.25	0.09310	N	0.999997	P	0.35575	0.51	P	0.45406	0.479	T	0.25082	-1.0142	10	0.42905	T	0.14	-40.0598	6.4494	0.21896	0.0:0.7042:0.0:0.2958	.	260	Q8NH09	OR8S1_HUMAN	V	260	ENSP00000310632:L260V	ENSP00000310632:L260V	L	+	1	0	OR8S1	47206459	0.000000	0.05858	0.142000	0.22268	0.938000	0.57974	-2.051000	0.01402	0.703000	0.31848	0.655000	0.94253	CTC		0.498	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			22	49	0	0	0	0	22	49				
HOXC9	3225	broad.mit.edu	37	12	54396248	54396248	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:54396248C>A	ENST00000303450.4	+	2	643	c.573C>A	c.(571-573)tcC>tcA	p.S191S	RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000508190.1_Silent_p.S191S|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	191					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACGCCCGCTCCACGAGGAAGA	0.567																																						uc001sep.2		NA																	0				large_intestine(1)|pancreas(1)|skin(1)	3						c.(571-573)TCC>TCA		homeobox C9							75.0	80.0	78.0					12																	54396248		2203	4300	6503	SO:0001819	synonymous_variant	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54396248C>A		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.573C>A	12.37:g.54396248C>A						HOXC9_uc001seq.2_Silent_p.S191S	p.S191S	NM_006897	NP_008828	P31274	HXC9_HUMAN			3	671	+			191					B2RCN7|Q9H1I0	Silent	SNP	ENST00000303450.4	37	c.573C>A	CCDS8869.1																																																																																				0.567	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			6	109	1	0	5.18e-06	1.56e-05	6	109				
CDK4	1019	broad.mit.edu	37	12	58142978	58142978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:58142978G>A	ENST00000257904.6	-	7	1171	c.806C>T	c.(805-807)gCa>gTa	p.A269V	TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_Missense_Mutation_p.A6V|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_Missense_Mutation_p.A149V|CDK4_ENST00000312990.6_3'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	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)			CAGCAGCTGTGCTCCCGACTC	0.602			Mis			melanoma			Hereditary Melanoma																													uc001spv.2		NA	yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma 			0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(805-807)GCA>GTA		cyclin-dependent kinase 4							65.0	72.0	69.0					12																	58142978		2203	4300	6503	SO:0001583	missense	1019	Hereditary_Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58142978G>A	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.806C>T	12.37:g.58142978G>A	ENSP00000257904:p.Ala269Val					CDK4_uc010ssb.1_Missense_Mutation_p.A149V|CDK4_uc001spw.2_RNA|uc010ssc.1_5'Flank	p.A269V	NM_000075	NP_000066	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		7	1033	-	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)		269			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.806C>T	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006575	0.35415	.	.	ENSG00000135446	ENST00000257904;ENST00000549606;ENST00000540325;ENST00000546489	T;T;T;T	0.66099	-0.19;1.02;-0.19;-0.19	4.44	4.44	0.53790	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	N	0.05031	-0.125	0.80722	D	1	B	0.24768	0.111	B	0.23574	0.047	T	0.22068	-1.0227	10	0.23891	T	0.37	.	8.57	0.33563	0.1011:0.0:0.8989:0.0	.	269	P11802	CDK4_HUMAN	V	269;6;149;195	ENSP00000257904:A269V;ENSP00000447005:A6V;ENSP00000439076:A149V;ENSP00000447779:A195V	ENSP00000257904:A269V	A	-	2	0	CDK4	56429245	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.666000	0.54540	2.771000	0.95319	0.655000	0.94253	GCA		0.602	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		18	74	0	0	0	0	18	74				
GLIPR1	11010	broad.mit.edu	37	12	75889388	75889388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:75889388G>A	ENST00000266659.3	+	4	766	c.565G>A	c.(565-567)Gga>Aga	p.G189R		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	189					cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						ATATAAGAGAGGAGCCACCTG	0.378																																						uc001sxs.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(565-567)GGA>AGA		GLI pathogenesis-related 1 precursor							60.0	59.0	59.0					12																	75889388		2203	4300	6503	SO:0001583	missense	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75889388G>A	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.565G>A	12.37:g.75889388G>A	ENSP00000266659:p.Gly189Arg					GLIPR1_uc009zsb.1_Silent_p.E212E	p.G189R	NM_006851	NP_006842	P48060	GLIP1_HUMAN			4	713	+			189					A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	ENST00000266659.3	37	c.565G>A	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093972	0.76870	.	.	ENSG00000139278	ENST00000266659	T	0.20332	2.08	5.01	5.01	0.66863	CAP domain (2);	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	M	0.89163	3.01	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.63690	-0.6580	10	0.87932	D	0	.	16.8607	0.86017	0.0:0.0:1.0:0.0	.	189	P48060	GLIP1_HUMAN	R	189	ENSP00000266659:G189R	ENSP00000266659:G189R	G	+	1	0	GLIPR1	74175655	1.000000	0.71417	0.350000	0.25708	0.585000	0.36419	6.533000	0.73829	2.494000	0.84150	0.655000	0.94253	GGA		0.378	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		3	24	0	0	0	0	3	24				
CCER1	196477	broad.mit.edu	37	12	91348312	91348312	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:91348312G>T	ENST00000358859.2	-	1	641	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	70																	GGGCCGTGCTGTTGCTTCGGC	0.642																																						uc001tbj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(208-210)CAG>AAG		hypothetical protein LOC196477							39.0	42.0	41.0					12																	91348312		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91348312G>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.208C>A	12.37:g.91348312G>T	ENSP00000351727:p.Gln70Lys						p.Q70K	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	642	-			70					Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.208C>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	9.554	1.116720	0.20795	.	.	ENSG00000197651	ENST00000358859	T	0.39056	1.1	4.87	3.99	0.46301	.	0.518959	0.14548	N	0.312849	T	0.39545	0.1082	L	0.27053	0.805	0.09310	N	1	P	0.50156	0.932	P	0.50970	0.655	T	0.12889	-1.0530	10	0.40728	T	0.16	-11.9055	10.5873	0.45290	0.0:0.0:0.8079:0.1921	.	70	Q8TC90	CL012_HUMAN	K	70	ENSP00000351727:Q70K	ENSP00000351727:Q70K	Q	-	1	0	C12orf12	89872443	0.002000	0.14202	0.005000	0.12908	0.023000	0.10783	0.807000	0.27140	1.295000	0.44724	-0.372000	0.07161	CAG		0.642	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		12	16	1	0	1.09e-07	3.34e-07	12	16				
TMEM132B	114795	broad.mit.edu	37	12	126138423	126138424	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:126138423_126138424GA>TG	ENST00000299308.3	+	9	2412_2413	c.2404_2405GA>TG	c.(2404-2406)GAt>TGt	p.D802C	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314C	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGCAGCAATGATATTGAGGGC	0.475																																						uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2404-2406)GAT>TGT		transmembrane protein 132B																																				SO:0001583	missense	114795					integral to membrane		g.chr12:126138423_126138424GA>TG	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		Exception_encountered	12.37:g.126138423_126138424delinsTG	ENSP00000299308:p.Asp802Cys					TMEM132B_uc001uhf.1_Missense_Mutation_p.D314C	p.D802C	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2412_2413	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		802			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	DNP	ENST00000299308.3	37	c.2404_2405GA>TG	CCDS41859.1																																																																																				0.475	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		6	57	0	0	0	0	6	57				
N6AMT2	221143	broad.mit.edu	37	13	21331600	21331600	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:21331600C>T	ENST00000382758.1	-	2	185	c.138G>A	c.(136-138)gaG>gaA	p.E46E	N6AMT2_ENST00000460374.1_5'UTR|N6AMT2_ENST00000382754.4_Silent_p.E46E			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	46						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.E46D(1)		endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTACCCAATTCTCTTCTATTA	0.418																																						uc001uno.1		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(136-138)GAG>GAA		N-6 adenine-specific DNA methyltransferase 2							215.0	193.0	201.0					13																	21331600		2203	4300	6503	SO:0001819	synonymous_variant	221143						methyltransferase activity|nucleic acid binding	g.chr13:21331600C>T	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.138G>A	13.37:g.21331600C>T						N6AMT2_uc009zzr.1_Silent_p.E46E|N6AMT2_uc001unp.2_RNA	p.E46E	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	2	219	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	46					B5G4V1	Silent	SNP	ENST00000382758.1	37	c.138G>A	CCDS9293.1																																																																																				0.418	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		23	57	0	0	0	0	23	57				
STARD13	90627	broad.mit.edu	37	13	33703125	33703125	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:33703125A>G	ENST00000336934.5	-	5	1805	c.1689T>C	c.(1687-1689)ccT>ccC	p.P563P	STARD13_ENST00000399365.3_Silent_p.P445P|STARD13_ENST00000255486.4_Silent_p.P555P	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	563					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGACCCCAGGAGGCTCAGATT	0.473																																						uc001uuw.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1687-1689)CCT>CCC		StAR-related lipid transfer (START) domain							63.0	62.0	62.0					13																	33703125		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703125A>G	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1689T>C	13.37:g.33703125A>G						STARD13_uc001uuu.2_Silent_p.P555P|STARD13_uc001uuv.2_Silent_p.P445P|STARD13_uc001uux.2_Silent_p.P528P|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.P548P	p.P563P	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1815	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	563					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.1689T>C	CCDS9348.1																																																																																				0.473	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		18	32	0	0	0	0	18	32				
LRCH1	23143	broad.mit.edu	37	13	47315858	47315859	+	Missense_Mutation	DNP	GG	GG	TT	rs377319675		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:47315858_47315859GG>TT	ENST00000389798.3	+	19	2259_2260	c.2062_2063GG>TT	c.(2062-2064)GGg>TTg	p.G688L	LRCH1_ENST00000311191.6_Intron|LRCH1_ENST00000389797.3_Missense_Mutation_p.G723L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	688	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GCTGGCACTCGGGGAGAAAGCC	0.515																																						uc001vbj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2062-2064)GGG>TTG		leucine-rich repeats and calponin homology (CH)																																				SO:0001583	missense	23143							g.chr13:47315858_47315859GG>TT	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	Exception_encountered	13.37:g.47315858_47315859delinsTT	ENSP00000374448:p.Gly688Leu					LRCH1_uc001vbk.2_Missense_Mutation_p.G723L|LRCH1_uc001vbl.3_Intron	p.G688L	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	19	2298_2299	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	688			CH.		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	DNP	ENST00000389798.3	37	c.2062_2063GG>TT	CCDS31972.1																																																																																				0.515	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		8	419	0	0	0	0	8	419				
SLITRK6	84189	broad.mit.edu	37	13	86368987	86368987	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:86368987C>T	ENST00000400286.2	-	2	2255	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	553	LRRCT 2.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCTTTTTGTCGAGATGCCCG	0.458																																						uc001vll.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1657-1659)GAC>AAC		slit and trk like 6 precursor							99.0	99.0	99.0					13																	86368987		1933	4130	6063	SO:0001583	missense	84189					integral to membrane		g.chr13:86368987C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1657G>A	13.37:g.86368987C>T	ENSP00000383143:p.Asp553Asn					SLITRK6_uc010afe.1_Intron	p.D553N	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2116	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		553			LRRCT 2.|Extracellular (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1657G>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	0.897	-0.723689	0.03158	.	.	ENSG00000184564	ENST00000400286	T	0.02369	4.32	5.93	-1.22	0.09494	Cysteine-rich flanking region, C-terminal (1);	0.678779	0.13916	U	0.353868	T	0.01765	0.0056	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44952	-0.9294	10	0.32370	T	0.25	-0.3269	6.7726	0.23602	0.0:0.2843:0.2233:0.4924	.	553	Q9H5Y7	SLIK6_HUMAN	N	553	ENSP00000383143:D553N	ENSP00000383143:D553N	D	-	1	0	SLITRK6	85266988	0.017000	0.18338	0.000000	0.03702	0.174000	0.22865	1.266000	0.33039	-0.661000	0.05345	-0.794000	0.03295	GAC		0.458	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		11	54	0	0	0	0	11	54				
OXGR1	27199	broad.mit.edu	37	13	97639754	97639754	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:97639754G>T	ENST00000298440.1	-	4	503	c.260C>A	c.(259-261)cCc>cAc	p.P87H	OXGR1_ENST00000543457.1_Missense_Mutation_p.P87H	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	87					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AATCAGGAAGGGGAGGCTGGT	0.453																																						uc001vmx.1		NA																	0				ovary(1)|skin(1)	2						c.(259-261)CCC>CAC		oxoglutarate (alpha-ketoglutarate) receptor 1							81.0	75.0	77.0					13																	97639754		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639754G>T	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.260C>A	13.37:g.97639754G>T	ENSP00000298440:p.Pro87His					OXGR1_uc010afr.1_Missense_Mutation_p.P87H	p.P87H	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	504	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		87			Helical; Name=2; (Potential).		Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.260C>A	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447453	0.84101	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.73897	-0.79;-0.79	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88164	0.6363	M	0.85945	2.785	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.89519	0.3777	10	0.87932	D	0	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	87	Q96P68	OXGR1_HUMAN	H	87	ENSP00000298440:P87H;ENSP00000438800:P87H	ENSP00000298440:P87H	P	-	2	0	OXGR1	96437755	1.000000	0.71417	0.941000	0.38009	0.958000	0.62258	9.657000	0.98554	2.735000	0.93741	0.655000	0.94253	CCC		0.453	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		10	16	1	0	2.18e-05	6.49e-05	10	16				
OR4K5	79317	broad.mit.edu	37	14	20389043	20389043	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:20389043C>A	ENST00000315915.4	+	1	303	c.278C>A	c.(277-279)tCt>tAt	p.S93Y		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGACCATATCTTTCAGTGGC	0.418																																						uc010tkw.1		NA																	0				ovary(1)|skin(1)	2						c.(277-279)TCT>TAT		olfactory receptor, family 4, subfamily K,							268.0	286.0	280.0					14																	20389043		2203	4299	6502	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389043C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.278C>A	14.37:g.20389043C>A	ENSP00000319511:p.Ser93Tyr						p.S93Y	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	278	+	all_cancers(95;0.00108)		93			Extracellular (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.278C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	17.08	3.298180	0.60195	.	.	ENSG00000176281	ENST00000315915	T	0.00745	5.75	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000133	T	0.07188	0.0182	H	0.95712	3.71	0.31163	N	0.704121	D	0.89917	1.0	D	0.70487	0.969	T	0.02232	-1.1191	10	0.87932	D	0	.	14.5138	0.67807	0.0:1.0:0.0:0.0	.	93	Q8NGD3	OR4K5_HUMAN	Y	93	ENSP00000319511:S93Y	ENSP00000319511:S93Y	S	+	2	0	OR4K5	19458883	0.942000	0.31987	0.861000	0.33841	0.944000	0.59088	3.317000	0.51968	2.269000	0.75478	0.655000	0.94253	TCT		0.418	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		57	295	1	0	9e-20	3e-19	57	295				
NOVA1	4857	broad.mit.edu	37	14	26918046	26918046	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:26918046T>A	ENST00000539517.2	-	5	960	c.643A>T	c.(643-645)Aac>Tac	p.N215Y	NOVA1_ENST00000267422.7_Missense_Mutation_p.N93Y|NOVA1_ENST00000465357.2_Missense_Mutation_p.N191Y	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	218	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCTTGCAAGTTGATCCCATCA	0.488																																						uc001wpy.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(643-645)AAC>TAC		neuro-oncological ventral antigen 1 isoform 1							177.0	164.0	168.0					14																	26918046		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26918046T>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.643A>T	14.37:g.26918046T>A	ENSP00000438875:p.Asn215Tyr					NOVA1_uc001wpz.2_Missense_Mutation_p.N191Y|NOVA1_uc001wqa.2_Missense_Mutation_p.N93Y	p.N215Y	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	961	-			218			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.643A>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226980	0.79576	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;0.8	5.73	5.73	0.89815	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.79701	0.4491	M	0.78456	2.415	0.80722	D	1	D;D;D	0.69078	0.992;0.997;0.997	D;D;D	0.81914	0.953;0.995;0.991	T	0.82275	-0.0538	10	0.72032	D	0.01	-19.9161	16.0142	0.80425	0.0:0.0:0.0:1.0	.	218;191;215	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	Y	191;215;93;174;69;93	ENSP00000447391:N191Y;ENSP00000438875:N215Y;ENSP00000267422:N93Y;ENSP00000408914:N174Y;ENSP00000299472:N69Y;ENSP00000449113:N93Y	ENSP00000267422:N93Y	N	-	1	0	NOVA1	25987886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	2.187000	0.69744	0.460000	0.39030	AAC		0.488	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		43	76	0	0	0	0	43	76				
BAZ1A	11177	broad.mit.edu	37	14	35245154	35245154	+	Missense_Mutation	SNP	C	C	T	rs116485187		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:35245154C>T	ENST00000382422.2	-	17	3131	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	BAZ1A_ENST00000360310.1_Missense_Mutation_p.R935H|BAZ1A_ENST00000358716.4_Missense_Mutation_p.R903H			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	935					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCAGAAAAACGGGCTAGCTG	0.353																																						uc001wsk.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(2803-2805)CGT>CAT		bromodomain adjacent to zinc finger domain, 1A							49.0	49.0	49.0					14																	35245154		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35245154C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2804G>A	14.37:g.35245154C>T	ENSP00000371859:p.Arg935His					BAZ1A_uc001wsl.2_Missense_Mutation_p.R903H	p.R935H	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	18	3372	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		935					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.2804G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	6.514	0.462991	0.12402	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.72615	-0.67;-0.67;-0.67	5.61	-4.64	0.03349	.	1.126930	0.06415	N	0.721326	T	0.48295	0.1492	N	0.04636	-0.2	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.28839	-1.0031	10	0.33940	T	0.23	.	15.0915	0.72198	0.0:0.6715:0.0:0.3285	.	903;935	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	H	903;935;935;587	ENSP00000351555:R903H;ENSP00000371859:R935H;ENSP00000353458:R935H	ENSP00000351555:R903H	R	-	2	0	BAZ1A	34314905	0.000000	0.05858	0.137000	0.22149	0.983000	0.72400	-1.850000	0.01670	-0.879000	0.04002	0.655000	0.94253	CGT		0.353	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			10	29	0	0	0	0	10	29				
SLC8A3	6547	broad.mit.edu	37	14	70633784	70633784	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:70633784C>A	ENST00000381269.2	-	2	2109	c.1356G>T	c.(1354-1356)acG>acT	p.T452T	SLC8A3_ENST00000534137.1_Silent_p.T452T|SLC8A3_ENST00000528359.1_Silent_p.T452T|SLC8A3_ENST00000357887.3_Silent_p.T452T|SLC8A3_ENST00000356921.2_Silent_p.T452T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	452	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCAGAACCACCGTGCCCTCTG	0.488																																						uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1354-1356)ACG>ACT		solute carrier family 8 (sodium/calcium							159.0	153.0	155.0					14																	70633784		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633784C>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1356G>T	14.37:g.70633784C>A						SLC8A3_uc001xlw.2_Silent_p.T452T|SLC8A3_uc001xlx.2_Silent_p.T452T|SLC8A3_uc001xlz.2_Silent_p.T452T|SLC8A3_uc010ara.2_RNA	p.T452T	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2110	-			452			Calx-beta 1.|Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.1356G>T	CCDS35498.1																																																																																				0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			45	106	1	0	1.75e-18	5.81e-18	45	106				
SLC8A3	6547	broad.mit.edu	37	14	70634902	70634902	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:70634902A>G	ENST00000381269.2	-	2	991	c.238T>C	c.(238-240)Tat>Cat	p.Y80H	SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y80H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y80H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	80					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCACAAAATAGACAATGACC	0.522																																						uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(238-240)TAT>CAT		solute carrier family 8 (sodium/calcium							77.0	68.0	71.0					14																	70634902		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634902A>G	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.238T>C	14.37:g.70634902A>G	ENSP00000370669:p.Tyr80His					SLC8A3_uc001xlw.2_Missense_Mutation_p.Y80H|SLC8A3_uc001xlx.2_Missense_Mutation_p.Y80H|SLC8A3_uc001xlz.2_Missense_Mutation_p.Y80H|SLC8A3_uc010ara.2_RNA	p.Y80H	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	992	-			80			Helical; (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.238T>C	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072765	0.55646	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.60424	0.26;0.19;0.33;0.27;0.33	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.995;0.998	D;D;D;D	0.85130	0.997;0.997;0.979;0.986	T	0.81675	-0.0825	10	0.87932	D	0	.	14.8144	0.70020	1.0:0.0:0.0:0.0	.	80;80;80;80	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	H	80	ENSP00000349392:Y80H;ENSP00000370669:Y80H;ENSP00000350560:Y80H;ENSP00000436688:Y80H;ENSP00000433531:Y80H	ENSP00000349392:Y80H	Y	-	1	0	SLC8A3	69704655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.085000	0.62840	0.533000	0.62120	TAT		0.522	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			12	24	0	0	0	0	12	24				
PTPN21	11099	broad.mit.edu	37	14	88940131	88940131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:88940131G>A	ENST00000556564.1	-	14	2811	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R843*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	843					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCATCTACTCGAGTCTTTTTC	0.398																																						uc001xwv.3		NA																	0				ovary(3)|skin(1)	4						c.(2527-2529)CGA>TGA		protein tyrosine phosphatase, non-receptor type							141.0	137.0	138.0					14																	88940131		2203	4300	6503	SO:0001587	stop_gained	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88940131G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2527C>T	14.37:g.88940131G>A	ENSP00000452414:p.Arg843*					PTPN21_uc010twc.1_Nonsense_Mutation_p.R639*	p.R843*	NM_007039	NP_008970	Q16825	PTN21_HUMAN			14	2858	-			843						Nonsense_Mutation	SNP	ENST00000556564.1	37	c.2527C>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	43	10.436043	0.99405	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	.	.	.	5.43	5.43	0.79202	.	0.131690	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0467	0.64708	0.0:0.0:0.8119:0.1881	.	.	.	.	X	843	.	ENSP00000330276:R843X	R	-	1	2	PTPN21	88009884	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.106000	0.50322	2.547000	0.85894	0.655000	0.94253	CGA		0.398	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			5	41	0	0	0	0	5	41				
TECPR2	9895	broad.mit.edu	37	14	102900897	102900897	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:102900897G>T	ENST00000359520.7	+	9	1969	c.1743G>T	c.(1741-1743)ctG>ctT	p.L581L	TECPR2_ENST00000558678.1_Silent_p.L581L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	581					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGCGGGAGCTGCTCAATGGAG	0.532																																						uc001ylw.1		NA																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(1741-1743)CTG>CTT		tectonin beta-propeller repeat containing 2							80.0	63.0	68.0					14																	102900897		2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102900897G>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1743G>T	14.37:g.102900897G>T						TECPR2_uc010awl.2_Silent_p.L581L|TECPR2_uc010txx.1_Intron	p.L581L	NM_014844	NP_055659	O15040	TCPR2_HUMAN			9	1891	+			581					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.1743G>T	CCDS32162.1																																																																																				0.532	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		11	30	1	0	1.59e-06	4.83e-06	11	30				
SNURF	8926	broad.mit.edu	37	15	25213157	25213157	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:25213157C>T	ENST00000577949.1	+	3	252	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNURF_ENST00000338094.6_Silent_p.F63F|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000338327.4_Silent_p.F63F|SNURF_ENST00000551312.2_Silent_p.F63F|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	63						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		GGCAGGCATTCTTAGCTGAGA	0.468																																						uc001ywu.2		NA																	0					0						c.(187-189)TTC>TTT		SNRPN upstream reading frame protein							119.0	108.0	111.0					15																	25213157		2203	4300	6503	SO:0001819	synonymous_variant	8926					nucleus		g.chr15:25213157C>T		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.189C>T	15.37:g.25213157C>T						SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywv.1_5'UTR|SNRPN_uc001yww.1_5'UTR|SNRPN_uc001ywx.1_5'UTR|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_RNA|SNRPN_uc001ywy.1_Silent_p.F63F	p.F63F	NM_022804	NP_073715	Q9Y675	SNURF_HUMAN		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)	3	315	+		all_cancers(20;1.4e-21)|Breast(32;0.000625)	63					A6NCW2	Silent	SNP	ENST00000577949.1	37	c.189C>T	CCDS10016.1																																																																																				0.468	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678		4	60	0	0	0	0	4	60				
ATP10A	57194	broad.mit.edu	37	15	25959362	25959362	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:25959362G>T	ENST00000356865.6	-	10	1914	c.1803C>A	c.(1801-1803)tcC>tcA	p.S601S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	601					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|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)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTTCACCGGGGACTTCAGCT	0.607																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1801-1803)TCC>TCA		ATPase, class V, type 10A							36.0	41.0	40.0					15																	25959362		2197	4290	6487	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	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.chr15:25959362G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1803C>A	15.37:g.25959362G>T							p.S601S	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	1909	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	601			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1803C>A	CCDS32178.1																																																																																				0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		16	31	1	0	6.32e-08	1.96e-07	16	31				
TJP1	7082	broad.mit.edu	37	15	30003119	30003119	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:30003119G>C	ENST00000346128.6	-	24	4762	c.4288C>G	c.(4288-4290)Cca>Gca	p.P1430A	TJP1_ENST00000400011.2_Missense_Mutation_p.P1354A|TJP1_ENST00000545208.2_Missense_Mutation_p.P1350A|TJP1_ENST00000356107.6_Missense_Mutation_p.P1430A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1430	Poly-Pro.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAGGGCAATGGAGGAGGAGGG	0.532																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(4288-4290)CCA>GCA		tight junction protein 1 isoform a							175.0	190.0	185.0					15																	30003119		2064	4206	6270	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30003119G>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4288C>G	15.37:g.30003119G>C	ENSP00000281537:p.Pro1430Ala					TJP1_uc010azl.2_Missense_Mutation_p.P1418A|TJP1_uc001zcq.2_Missense_Mutation_p.P1354A|TJP1_uc001zcs.2_Missense_Mutation_p.P1350A	p.P1430A	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	24	4763	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1430			Poly-Pro.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4288C>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625791	0.46840	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.09350	2.99;3.04	5.62	4.68	0.58851	.	0.184350	0.48767	D	0.000167	T	0.28995	0.0720	L	0.60455	1.87	0.80722	D	1	B;B;B;D	0.71674	0.008;0.011;0.004;0.998	B;B;B;D	0.78314	0.005;0.009;0.004;0.991	T	0.00593	-1.1654	10	0.66056	D	0.02	.	14.9891	0.71371	0.0:0.1412:0.8588:0.0	.	1423;1350;1430;1354	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	A	1430;1354;1430;1350;1350	ENSP00000281537:P1430A;ENSP00000382890:P1354A	ENSP00000281537:P1430A	P	-	1	0	TJP1	27790411	0.998000	0.40836	0.694000	0.30210	0.751000	0.42716	2.402000	0.44521	2.642000	0.89623	0.655000	0.94253	CCA		0.532	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		76	109	0	0	0	0	76	109				
TJP1	7082	broad.mit.edu	37	15	30033539	30033539	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:30033539G>A	ENST00000346128.6	-	10	1726	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	TJP1_ENST00000400011.2_Missense_Mutation_p.L422F|TJP1_ENST00000545208.2_Missense_Mutation_p.L418F|TJP1_ENST00000356107.6_Missense_Mutation_p.L418F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	418					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TATTACCGAAGAATCCCATCT	0.338																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1252-1254)CTT>TTT		tight junction protein 1 isoform a							57.0	57.0	57.0					15																	30033539		1819	4079	5898	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30033539G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1252C>T	15.37:g.30033539G>A	ENSP00000281537:p.Leu418Phe					TJP1_uc010azl.2_Missense_Mutation_p.L406F|TJP1_uc001zcq.2_Missense_Mutation_p.L422F|TJP1_uc001zcs.2_Missense_Mutation_p.L418F	p.L418F	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	10	1727	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	418					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.1252C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311747	0.40895	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.27	5.27	0.74061	PDZ/DHR/GLGF (1);	114.053000	0.00166	N	0.000002	T	0.49643	0.1569	L	0.44542	1.39	0.80722	D	1	B;B;B;P	0.35155	0.002;0.005;0.068;0.487	B;B;B;B	0.34779	0.009;0.021;0.069;0.189	T	0.18871	-1.0323	9	.	.	.	.	16.061	0.80838	0.0:0.0:1.0:0.0	.	411;418;418;422	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	F	418;422;418;418;418	ENSP00000281537:L418F;ENSP00000382890:L422F;ENSP00000441202:L418F;ENSP00000348416:L418F	.	L	-	1	0	TJP1	27820831	1.000000	0.71417	0.996000	0.52242	0.479000	0.33129	6.789000	0.75110	2.458000	0.83093	0.555000	0.69702	CTT		0.338	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		19	23	0	0	0	0	19	23				
MAPKBP1	23005	broad.mit.edu	37	15	42107957	42107957	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:42107957G>C	ENST00000456763.2	+	13	1667	c.1471G>C	c.(1471-1473)Gga>Cga	p.G491R	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G324R|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.G485R|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G368R|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G485R	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	491										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGCCCCAATGGACAGCATCT	0.592																																						uc001zok.3		NA																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(1471-1473)GGA>CGA		mitogen-activated protein kinase binding protein							83.0	74.0	77.0					15																	42107957		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42107957G>C	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1471G>C	15.37:g.42107957G>C	ENSP00000393099:p.Gly491Arg					MAPKBP1_uc001zoj.3_Missense_Mutation_p.G485R|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.G485R|MAPKBP1_uc010udb.1_Missense_Mutation_p.G324R|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR	p.G491R	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	13	1757	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	491			WD 7.		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1471G>C	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	35	5.483396	0.96307	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.72167	1.13;-0.42;0.39;-0.63;0.39	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048414	0.85682	D	0.000000	D	0.87569	0.6210	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.988;1.0;0.999	D	0.88611	0.3156	10	0.66056	D	0.02	-5.1434	20.1081	0.97899	0.0:0.0:1.0:0.0	.	324;485;491;485	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	R	485;368;324;491;485	ENSP00000397570:G485R;ENSP00000221214:G368R;ENSP00000260357:G324R;ENSP00000393099:G491R;ENSP00000426154:G485R	ENSP00000221214:G368R	G	+	1	0	MAPKBP1	39895249	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	9.866000	0.99616	2.764000	0.94973	0.555000	0.69702	GGA		0.592	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		10	26	0	0	0	0	10	26				
USP8	9101	broad.mit.edu	37	15	50788056	50788056	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:50788056G>C	ENST00000396444.3	+	17	3008	c.2670G>C	c.(2668-2670)cgG>cgC	p.R890R	USP8_ENST00000425032.3_Silent_p.R784R|USP8_ENST00000433963.1_Silent_p.R890R|USP8_ENST00000307179.4_Silent_p.R890R|RP11-562A8.5_ENST00000560159.1_lincRNA|RP11-562A8.4_ENST00000560380.1_RNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	890	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTGATAATCGGAAGAGATATA	0.318																																						uc001zym.3		NA																	0				lung(1)|central_nervous_system(1)	2						c.(2668-2670)CGG>CGC		ubiquitin specific peptidase 8							24.0	24.0	24.0					15																	50788056		2196	4264	6460	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50788056G>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2670G>C	15.37:g.50788056G>C						USP8_uc001zyl.3_Silent_p.R890R|USP8_uc001zyn.3_Silent_p.R890R|USP8_uc010ufh.1_Silent_p.R784R|uc001zyo.1_5'Flank|USP8_uc001zyp.3_Silent_p.R57R	p.R890R	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	18	3170	+			890					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.2670G>C	CCDS10137.1																																																																																				0.318	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		6	16	0	0	0	0	6	16				
ALPK3	57538	broad.mit.edu	37	15	85399896	85399896	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:85399896G>T	ENST00000258888.5	+	6	2700	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	845					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)			GCAGGTGGATGCTGGGACACA	0.547																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(2533-2535)GCT>TCT		alpha-kinase 3							163.0	137.0	146.0					15																	85399896		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85399896G>T	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.2533G>T	15.37:g.85399896G>T	ENSP00000258888:p.Ala845Ser						p.A845S	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	2700	+			845					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.2533G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	9.651	1.141519	0.21205	.	.	ENSG00000136383	ENST00000258888	T	0.59906	0.23	4.29	2.4	0.29515	.	5.485570	0.00810	N	0.001480	T	0.44829	0.1312	N	0.19112	0.55	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.27706	-1.0066	10	0.22706	T	0.39	-0.2174	8.5396	0.33384	0.1934:0.0:0.8066:0.0	.	845	Q96L96	ALPK3_HUMAN	S	845	ENSP00000258888:A845S	ENSP00000258888:A845S	A	+	1	0	ALPK3	83200900	0.000000	0.05858	0.011000	0.14972	0.093000	0.18481	-0.010000	0.12743	0.391000	0.25143	0.467000	0.42956	GCT		0.547	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		9	26	1	0	5.49e-09	1.73e-08	9	26				
MAN2A2	4122	broad.mit.edu	37	15	91455444	91455444	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:91455444A>C	ENST00000559717.1	+	15	2740	c.2281A>C	c.(2281-2283)Agc>Cgc	p.S761R	MAN2A2_ENST00000360468.3_Missense_Mutation_p.S761R|MAN2A2_ENST00000430376.2_5'UTR|MAN2A2_ENST00000431652.2_Missense_Mutation_p.S269R			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	761					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTCTGGCACCAGCGACTTCGC	0.637																																						uc010bnz.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(2281-2283)AGC>CGC		mannosidase, alpha, class 2A, member 2							91.0	87.0	88.0					15																	91455444		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91455444A>C	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2281A>C	15.37:g.91455444A>C	ENSP00000452948:p.Ser761Arg					MAN2A2_uc002bqc.2_Missense_Mutation_p.S761R|MAN2A2_uc010uql.1_Missense_Mutation_p.S423R|MAN2A2_uc010uqm.1_Missense_Mutation_p.S340R|MAN2A2_uc010uqn.1_RNA	p.S761R	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		15	2396	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		761			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2281A>C	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	A	5.702	0.314075	0.10789	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	D;D	0.83335	-1.71;-1.71	5.19	1.67	0.24075	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.584363	0.20394	N	0.093193	T	0.72120	0.3421	L	0.42245	1.32	0.19300	N	0.999978	B;B;B	0.11235	0.004;0.001;0.0	B;B;B	0.19666	0.026;0.004;0.016	T	0.54186	-0.8331	10	0.19147	T	0.46	-4.7035	6.3158	0.21190	0.5602:0.0:0.4398:0.0	.	269;389;761	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	R	761;269	ENSP00000353655:S761R;ENSP00000388221:S269R	ENSP00000353655:S761R	S	+	1	0	MAN2A2	89256448	0.000000	0.05858	0.002000	0.10522	0.359000	0.29487	0.040000	0.13905	0.327000	0.23409	0.374000	0.22700	AGC		0.637	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		30	66	0	0	0	0	30	66				
PHKB	5257	broad.mit.edu	37	16	47627442	47627442	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr16:47627442T>C	ENST00000323584.5	+	11	1124	c.1100T>C	c.(1099-1101)aTa>aCa	p.I367T	PHKB_ENST00000455779.1_Missense_Mutation_p.I360T|PHKB_ENST00000299167.8_Missense_Mutation_p.I367T|PHKB_ENST00000566044.1_Missense_Mutation_p.I360T	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	367					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GAATTTCCCATATTTTTCCTT	0.249																																						uc002eev.3		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(1099-1101)ATA>ACA		phosphorylase kinase, beta isoform a							71.0	69.0	70.0					16																	47627442		2198	4297	6495	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47627442T>C		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1100T>C	16.37:g.47627442T>C	ENSP00000313504:p.Ile367Thr					PHKB_uc002eeu.3_Missense_Mutation_p.I360T	p.I367T	NM_000293	NP_000284	Q93100	KPBB_HUMAN			11	1152	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	367					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.1100T>C	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407741	0.83340	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.92965	-3.14;-3.14	5.36	5.36	0.76844	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.117909	0.56097	D	0.000021	D	0.94456	0.8216	M	0.65498	2.005	0.58432	D	0.999991	P;P	0.40660	0.51;0.726	P;P	0.54100	0.742;0.552	D	0.94987	0.8131	10	0.87932	D	0	-17.1707	15.3467	0.74343	0.0:0.0:0.0:1.0	.	367;360	Q93100;Q93100-4	KPBB_HUMAN;.	T	360;360;367	ENSP00000414345:I360T;ENSP00000313504:I367T	ENSP00000299167:I360T	I	+	2	0	PHKB	46184943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.374000	0.66167	2.021000	0.59480	0.528000	0.53228	ATA		0.249	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			10	18	0	0	0	0	10	18				
CES2	8824	broad.mit.edu	37	16	66976677	66976677	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr16:66976677G>A	ENST00000317091.4	+	10	2585	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Intron	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	470					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	AGTTTCTTTGGGGGCAACTAC	0.527																																					Ovarian(70;1230 1691 37888 38351)	uc002eqr.2		NA																	0					0						c.(1600-1602)GGG>GAG		carboxylesterase 2 isoform 1							97.0	95.0	96.0					16																	66976677		2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66976677G>A	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1601G>A	16.37:g.66976677G>A	ENSP00000317842:p.Gly534Glu					CES2_uc002eqq.2_Intron|CES2_uc002eqs.2_Missense_Mutation_p.G377E	p.G534E	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	10	2601	+		Ovarian(137;0.0563)	470					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.1601G>A	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	G	9.309	1.055085	0.19907	.	.	ENSG00000172831	ENST00000317091	T	0.58506	0.33	4.7	0.211	0.15236	Carboxylesterase, type B (1);	1.472120	0.04642	N	0.405577	T	0.41994	0.1183	N	0.16098	0.37	0.09310	N	1	B	0.16603	0.018	B	0.32022	0.139	T	0.41698	-0.9494	10	0.59425	D	0.04	.	2.6229	0.04921	0.1431:0.1424:0.5456:0.1689	.	470	O00748	EST2_HUMAN	E	534	ENSP00000317842:G534E	ENSP00000317842:G534E	G	+	2	0	CES2	65534178	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.401000	0.20948	-0.010000	0.14271	0.650000	0.86243	GGG		0.527	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		8	47	0	0	0	0	8	47				
MYH8	4626	broad.mit.edu	37	17	10318656	10318656	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:10318656C>G	ENST00000403437.2	-	8	788	c.694G>C	c.(694-696)Gcc>Ccc	p.A232P	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	232	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCCAAAGGCCTCCAGTAGG	0.502									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(694-696)GCC>CCC		myosin, heavy chain 8, skeletal muscle,							133.0	135.0	135.0					17																	10318656		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318656C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.694G>C	17.37:g.10318656C>G	ENSP00000384330:p.Ala232Pro					uc002gml.1_Intron	p.A232P	NM_002472	NP_002463	P13535	MYH8_HUMAN			8	789	-			232			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.694G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555152	0.86231	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82893	-1.66	4.53	4.53	0.55603	Myosin head, motor domain (3);	0.000000	0.41396	U	0.000884	D	0.94670	0.8281	H	0.98068	4.14	0.80722	D	1	P	0.50617	0.937	D	0.75020	0.985	D	0.96755	0.9557	10	0.87932	D	0	.	17.4462	0.87579	0.0:1.0:0.0:0.0	.	232	P13535	MYH8_HUMAN	P	232	ENSP00000384330:A232P	ENSP00000252173:A232P	A	-	1	0	MYH8	10259381	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.522000	0.81844	2.356000	0.79943	0.655000	0.94253	GCC		0.502	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		28	75	0	0	0	0	28	75				
DNAH9	1770	broad.mit.edu	37	17	11573072	11573072	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:11573072T>G	ENST00000262442.4	+	17	3382	c.3314T>G	c.(3313-3315)cTc>cGc	p.L1105R	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1105R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1105	Stem. {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)		AGGTGGAGCCTCCTGTTCAAA	0.453																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(3313-3315)CTC>CGC		dynein, axonemal, heavy chain 9 isoform 2							135.0	135.0	135.0					17																	11573072		2202	4300	6502	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.chr17:11573072T>G	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.3314T>G	17.37:g.11573072T>G	ENSP00000262442:p.Leu1105Arg					DNAH9_uc010coo.2_Missense_Mutation_p.L399R	p.L1105R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3382	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1105			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3314T>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.150667	0.37923	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.26223	1.79;1.75	4.9	4.9	0.64082	.	0.234309	0.34507	N	0.003909	T	0.27663	0.0680	M	0.63843	1.955	0.80722	D	1	B	0.30179	0.271	B	0.28553	0.091	T	0.04693	-1.0933	10	0.27785	T	0.31	.	14.805	0.69945	0.0:0.0:0.0:1.0	.	1105	Q9NYC9	DYH9_HUMAN	R	1105	ENSP00000262442:L1105R;ENSP00000414874:L1105R	ENSP00000262442:L1105R	L	+	2	0	DNAH9	11513797	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	6.196000	0.72094	1.949000	0.56562	0.482000	0.46254	CTC		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		40	95	0	0	0	0	40	95				
KCNJ12	3768	broad.mit.edu	37	17	21319765	21319765	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:21319765A>T	ENST00000583088.1	+	3	2006	c.1111A>T	c.(1111-1113)Agc>Tgc	p.S371C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S371C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	371				S -> R (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCTGCTGCCCAGCGCCAACTC	0.607										Prostate(3;0.18)																												uc002gyv.1		NA																	0				ovary(3)|skin(1)	4						c.(1111-1113)AGC>TGC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						93.0	86.0	89.0					17																	21319765		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319765A>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1111A>T	17.37:g.21319765A>T	ENSP00000463778:p.Ser371Cys	Prostate(3;0.18)					p.S371C	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1816	+			371	S -> R (in Ref. 2; AAC50615).		Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.1111A>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781484	0.49891	.	.	ENSG00000184185	ENST00000331718	D	0.94184	-3.37	5.65	4.57	0.56435	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.337788	0.37012	N	0.002288	D	0.94631	0.8269	L	0.60455	1.87	0.41906	D	0.990449	D	0.58970	0.984	D	0.64237	0.923	D	0.93838	0.7134	10	0.56958	D	0.05	.	9.4714	0.38844	0.8572:0.0:0.1428:0.0	.	371	Q14500	IRK12_HUMAN	C	371	ENSP00000328150:S371C	ENSP00000328150:S371C	S	+	1	0	KCNJ12	21260358	1.000000	0.71417	0.972000	0.41901	0.592000	0.36648	4.380000	0.59581	0.975000	0.38392	0.523000	0.50628	AGC		0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		5	84	0	0	0	0	5	84				
ERBB2	2064	broad.mit.edu	37	17	37881982	37881982	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:37881982G>A	ENST00000269571.5	+	23	2907	c.2748G>A	c.(2746-2748)atG>atA	p.M916I	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_Missense_Mutation_p.M916I|ERBB2_ENST00000540147.1_Missense_Mutation_p.M886I|ERBB2_ENST00000541774.1_Missense_Mutation_p.M901I|ERBB2_ENST00000445658.2_Missense_Mutation_p.M640I|ERBB2_ENST00000584601.1_Missense_Mutation_p.M886I|ERBB2_ENST00000406381.2_Missense_Mutation_p.M886I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	916	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	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)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGGAGCTGATGACTTTTGGGG	0.602		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(2746-2748)ATG>ATA		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						114.0	93.0	100.0					17																	37881982		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37881982G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2748G>A	17.37:g.37881982G>A	ENSP00000269571:p.Met916Ile	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.M886I|ERBB2_uc010cwa.2_Missense_Mutation_p.M901I|ERBB2_uc002hsp.2_Missense_Mutation_p.M719I|ERBB2_uc010cwb.2_Missense_Mutation_p.M916I|ERBB2_uc010wek.1_Missense_Mutation_p.M640I	p.M916I	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	23	2986	+	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)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	916			Cytoplasmic (Potential).|Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2748G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295345	0.60086	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81749	0.4888	N	0.11106	0.095	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.995	D;D;D	0.81914	0.964;0.995;0.974	D	0.85988	0.1487	9	0.87932	D	0	.	18.8505	0.92227	0.0:0.0:1.0:0.0	.	640;901;916	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	886;901;640;916;886	ENSP00000385185:M886I;ENSP00000446466:M901I;ENSP00000404047:M640I;ENSP00000269571:M916I;ENSP00000443562:M886I	ENSP00000269571:M916I	M	+	3	0	ERBB2	35135508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.549000	0.85964	0.563000	0.77884	ATG		0.602	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			6	64	0	0	0	0	6	64				
BRCA1	672	broad.mit.edu	37	17	41222997	41222997	+	Missense_Mutation	SNP	C	C	A	rs70953661|rs80357833		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:41222997C>A	ENST00000357654.3	-	15	5052	c.4934G>T	c.(4933-4935)aGg>aTg	p.R1645M	BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R541M|BRCA1_ENST00000591534.1_Missense_Mutation_p.R136M|BRCA1_ENST00000351666.3_Missense_Mutation_p.R462M|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1598M|BRCA1_ENST00000352993.3_Missense_Mutation_p.R503M|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1666M|BRCA1_ENST00000468300.1_Missense_Mutation_p.R541M|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.R1349M	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1645	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTGTTGACCCTTTCTGTTGA	0.443			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(4933-4935)AGG>ATG	Homologous_recombination	breast cancer 1, early onset isoform 1							182.0	153.0	162.0					17																	41222997		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41222997C>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4934G>T	17.37:g.41222997C>A	ENSP00000350283:p.Arg1645Met	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Missense_Mutation_p.R494M|BRCA1_uc010whl.1_Missense_Mutation_p.R541M|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R1574M|BRCA1_uc002icu.2_Missense_Mutation_p.R541M|BRCA1_uc010cyx.2_Missense_Mutation_p.R1598M|BRCA1_uc002ict.2_Missense_Mutation_p.R1666M|BRCA1_uc010whn.1_Missense_Mutation_p.R136M|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.R374M|BRCA1_uc002idc.1_Missense_Mutation_p.R541M|BRCA1_uc010whr.1_Missense_Mutation_p.R495M	p.R1645M	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	15	5166	-		Breast(137;0.000717)	1645			BRCT 1.		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.4934G>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368557	0.61624	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	4.6	0.213	0.15244	BRCT (3);	1.089510	0.06997	N	0.822710	D	0.87740	0.6253	L	0.59436	1.845	0.09310	N	1	D;P;D;P;D;D;B;D	0.61697	0.983;0.956;0.97;0.955;0.97;0.983;0.051;0.99	P;B;B;P;B;P;B;P	0.53313	0.533;0.436;0.343;0.548;0.436;0.533;0.01;0.723	T	0.75190	-0.3405	10	0.87932	D	0	.	5.1554	0.15032	0.0:0.4905:0.3248:0.1847	.	541;494;540;542;541;1667;1645;1645	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	M	1645;1666;503;462;1349;541;494;1667;1598;540;541;416;495	ENSP00000350283:R1645M;ENSP00000312236:R503M;ENSP00000338007:R462M;ENSP00000310938:R1349M;ENSP00000417148:R541M;ENSP00000377294:R494M;ENSP00000418775:R1598M;ENSP00000420412:R541M;ENSP00000419481:R416M;ENSP00000418819:R495M	ENSP00000310938:R1349M	R	-	2	0	BRCA1	38476523	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.344000	0.07780	0.011000	0.14865	0.655000	0.94253	AGG		0.443	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		59	64	1	0	3e-23	1.01e-22	59	64				
ASB16	92591	broad.mit.edu	37	17	42248236	42248236	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:42248236G>C	ENST00000293414.1	+	1	163	c.79G>C	c.(79-81)Gac>Cac	p.D27H		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	27					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGAATGGGAGGACCGGCGGCG	0.697																																						uc002ifl.1		NA																	0				kidney(2)	2						c.(79-81)GAC>CAC		ankyrin repeat and SOCS box-containing protein							21.0	21.0	21.0					17																	42248236		2203	4300	6503	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42248236G>C	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.79G>C	17.37:g.42248236G>C	ENSP00000293414:p.Asp27His					ASB16_uc002ifm.1_RNA	p.D27H	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	1	163	+		Breast(137;0.00765)|Prostate(33;0.0313)	27					B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.79G>C	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316620	0.81469	.	.	ENSG00000161664	ENST00000293414	T	0.63913	-0.07	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72272	-0.4342	10	0.66056	D	0.02	-42.4346	17.7963	0.88572	0.0:0.0:1.0:0.0	.	27	Q96NS5	ASB16_HUMAN	H	27	ENSP00000293414:D27H	ENSP00000293414:D27H	D	+	1	0	ASB16	39603762	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	4.426000	0.59882	2.735000	0.93741	0.561000	0.74099	GAC		0.697	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			10	45	0	0	0	0	10	45				
SKAP1	8631	broad.mit.edu	37	17	46239901	46239901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:46239901C>T	ENST00000336915.6	-	11	977	c.908G>A	c.(907-909)tGg>tAg	p.W303*	SKAP1_ENST00000584924.1_Nonsense_Mutation_p.W303*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	303	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATGGCAATCCCATAGGCCCTG	0.463																																						uc002ini.1		NA																	0					0						c.(907-909)TGG>TAG		src kinase associated phosphoprotein 1 isoform							103.0	86.0	92.0					17																	46239901		2203	4300	6503	SO:0001587	stop_gained	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46239901C>T	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.908G>A	17.37:g.46239901C>T	ENSP00000338171:p.Trp303*					SKAP1_uc002inj.1_Nonsense_Mutation_p.W302*|SKAP1_uc010dbd.1_Nonsense_Mutation_p.W208*|SKAP1_uc010dbe.1_Nonsense_Mutation_p.W303*	p.W303*	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN			11	1020	-			303			SH3.		D3DTV1|O15268	Nonsense_Mutation	SNP	ENST00000336915.6	37	c.908G>A	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	C	37	6.426581	0.97559	.	.	ENSG00000141293	ENST00000336915	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9061	0.92462	0.0:1.0:0.0:0.0	.	.	.	.	X	303	.	ENSP00000338171:W303X	W	-	2	0	SKAP1	43594900	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.317000	0.79018	2.765000	0.95021	0.655000	0.94253	TGG		0.463	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		12	70	0	0	0	0	12	70				
HOXB2	3212	broad.mit.edu	37	17	46620658	46620658	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:46620658C>T	ENST00000330070.4	-	2	2010	c.843G>A	c.(841-843)ggG>ggA	p.G281G	HOXB-AS1_ENST00000508688.1_RNA|HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	281					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GCCCGCCGGCCCCGCGCAGCG	0.711																																						uc002inm.2		NA																	0					0						c.(841-843)GGG>GGA		homeobox B2							13.0	17.0	16.0					17																	46620658		2081	4080	6161	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46620658C>T		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.843G>A	17.37:g.46620658C>T							p.G281G	NM_002145	NP_002136	P14652	HXB2_HUMAN			2	963	-			281					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.843G>A	CCDS11527.1																																																																																				0.711	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			9	48	0	0	0	0	9	48				
CA10	56934	broad.mit.edu	37	17	49726560	49726560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:49726560G>C	ENST00000285273.4	-	7	1728	c.617C>G	c.(616-618)aCa>aGa	p.T206R	CA10_ENST00000340813.6_Missense_Mutation_p.T212R|CA10_ENST00000570565.1_Missense_Mutation_p.T131R|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000451037.2_Missense_Mutation_p.T206R|CA10_ENST00000442502.2_Missense_Mutation_p.T206R	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	206					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TGTTATTCTTGTGATAGTATC	0.383																																						uc002itw.3		NA																	0				ovary(1)|skin(1)	2						c.(616-618)ACA>AGA		carbonic anhydrase X							129.0	134.0	133.0					17																	49726560		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49726560G>C	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.617C>G	17.37:g.49726560G>C	ENSP00000285273:p.Thr206Arg					CA10_uc002itu.3_Missense_Mutation_p.T135R|CA10_uc002itv.3_Missense_Mutation_p.T212R|CA10_uc002itx.3_Missense_Mutation_p.T206R|CA10_uc002ity.3_Missense_Mutation_p.T206R|CA10_uc002itz.2_Missense_Mutation_p.T206R	p.T206R	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		6	1603	-			206					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.617C>G	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170995	0.78452	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.37	5.37	0.77165	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.81074	0.4747	L	0.52905	1.665	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.91	D;D;P	0.81914	0.991;0.995;0.752	T	0.78510	-0.2176	10	0.33141	T	0.24	.	18.0905	0.89474	0.0:0.0:1.0:0.0	.	206;212;131	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	R	206;206;206;212	ENSP00000390666:T206R;ENSP00000285273:T206R;ENSP00000405388:T206R;ENSP00000340363:T212R	ENSP00000285273:T206R	T	-	2	0	CA10	47081559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.035000	0.93752	2.494000	0.84150	0.591000	0.81541	ACA		0.383	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		5	62	0	0	0	0	5	62				
SCPEP1	59342	broad.mit.edu	37	17	55072947	55072947	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:55072947A>G	ENST00000262288.3	+	8	792	c.737A>G	c.(736-738)tAc>tGc	p.Y246C		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	246					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AAGGGGCTCTACAGAGAGGCC	0.498																																						uc002iuv.3		NA																	0				skin(1)	1						c.(736-738)TAC>TGC		serine carboxypeptidase 1 precursor							91.0	92.0	92.0					17																	55072947		2203	4300	6503	SO:0001583	missense	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55072947A>G	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.737A>G	17.37:g.55072947A>G	ENSP00000262288:p.Tyr246Cys					SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Missense_Mutation_p.Y196C	p.Y246C	NM_021626	NP_067639	Q9HB40	RISC_HUMAN			8	790	+	Breast(9;2.86e-08)		246					Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	c.737A>G	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234140	0.39498	.	.	ENSG00000121064	ENST00000262288	D	0.85702	-2.02	5.72	4.62	0.57501	.	0.052425	0.85682	D	0.000000	D	0.91449	0.7301	M	0.87827	2.91	0.40118	D	0.976568	D	0.67145	0.996	D	0.65684	0.937	D	0.90250	0.4293	10	0.30854	T	0.27	-2.9879	10.6384	0.45579	0.7443:0.0:0.0:0.2557	.	246	Q9HB40	RISC_HUMAN	C	246	ENSP00000262288:Y246C	ENSP00000262288:Y246C	Y	+	2	0	SCPEP1	52427946	0.988000	0.35896	0.180000	0.23079	0.228000	0.25075	2.681000	0.46926	0.965000	0.38133	0.455000	0.32223	TAC		0.498	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		6	118	0	0	0	0	6	118				
TTYH2	94015	broad.mit.edu	37	17	72233624	72233624	+	Silent	SNP	C	C	T	rs563788375		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:72233624C>T	ENST00000269346.4	+	4	680	c.606C>T	c.(604-606)tcC>tcT	p.S202S	TTYH2_ENST00000529107.1_Silent_p.S181S	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	202						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCAAGCTATCCGACCAGACTG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		16160	0.0		0.0	False		,,,				2504	0.001					uc002jkc.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(604-606)TCC>TCT		tweety 2 isoform 1							70.0	63.0	65.0					17																	72233624		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72233624C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.606C>T	17.37:g.72233624C>T						TTYH2_uc010wqw.1_Silent_p.S181S	p.S202S	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			4	637	+			202			Extracellular (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.606C>T	CCDS32717.1																																																																																				0.572	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			7	64	0	0	0	0	7	64				
DNAI2	64446	broad.mit.edu	37	17	72285736	72285736	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:72285736C>T	ENST00000311014.6	+	5	538	c.471C>T	c.(469-471)gaC>gaT	p.D157D	DNAI2_ENST00000307504.5_Silent_p.D14D|DNAI2_ENST00000446837.2_Silent_p.D157D|DNAI2_ENST00000582036.1_Silent_p.D157D|DNAI2_ENST00000579490.1_Silent_p.D214D			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	157					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTGCAGGGACCCCCAGGAAA	0.547									Kartagener syndrome																													uc002jkf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(469-471)GAC>GAT		dynein, axonemal, intermediate polypeptide 2							43.0	45.0	44.0					17																	72285736		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72285736C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.471C>T	17.37:g.72285736C>T						DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	p.D157D	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			5	570	+			157					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.471C>T	CCDS11697.1																																																																																				0.547	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		22	34	0	0	0	0	22	34				
CCDC40	55036	broad.mit.edu	37	17	78055742	78055742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:78055742G>T	ENST00000397545.4	+	12	1901	c.1874G>T	c.(1873-1875)aGg>aTg	p.R625M	CCDC40_ENST00000374877.3_Missense_Mutation_p.R625M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	625					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGGAGCTCAGGAGGAAGACG	0.577																																						uc010dht.2		NA																	0				ovary(3)	3						c.(1873-1875)AGG>ATG		coiled-coil domain containing 40							39.0	43.0	41.0					17																	78055742		2146	4256	6402	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78055742G>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1874G>T	17.37:g.78055742G>T	ENSP00000380679:p.Arg625Met					CCDC40_uc002jxm.3_Missense_Mutation_p.R408M|CCDC40_uc002jxn.3_Missense_Mutation_p.R21M	p.R625M	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		12	1901	+	all_neural(118;0.167)		625			Potential.		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1874G>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224128	0.58668	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.51817	0.69;0.73	5.07	-1.4	0.08968	.	.	.	.	.	T	0.57140	0.2033	M	0.63428	1.95	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.61592	0.862;0.891	T	0.51725	-0.8669	9	0.46703	T	0.11	-21.2565	9.6452	0.39863	0.7851:0.0:0.2149:0.0	.	625;408	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	M	625	ENSP00000364011:R625M;ENSP00000380679:R625M	ENSP00000364011:R625M	R	+	2	0	CCDC40	75670337	0.009000	0.17119	0.000000	0.03702	0.142000	0.21351	1.492000	0.35594	-0.102000	0.12197	-0.302000	0.09304	AGG		0.577	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		9	36	1	0	3.1e-07	9.46e-07	9	36				
EPB41L3	23136	broad.mit.edu	37	18	5415995	5415995	+	Missense_Mutation	SNP	G	G	A	rs548784436		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:5415995G>A	ENST00000341928.2	-	13	2229	c.1889C>T	c.(1888-1890)cCg>cTg	p.P630L	EPB41L3_ENST00000342933.3_Missense_Mutation_p.P630L|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	630	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CACAAGGGACGGTGAGCGGAT	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21864	0.0		0.0	False		,,,				2504	0.0					uc002kmt.1		NA																	0				ovary(5)	5						c.(1888-1890)CCG>CTG		erythrocyte membrane protein band 4.1-like 3							217.0	149.0	172.0					18																	5415995		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5415995G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1889C>T	18.37:g.5415995G>A	ENSP00000343158:p.Pro630Leu					EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	p.P630L	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			13	1975	-			630			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1889C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869936	0.91587	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82344	-1.6;-1.6	5.37	5.37	0.77165	.	0.319537	0.29692	N	0.011455	D	0.90601	0.7053	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.91400	0.5142	10	0.87932	D	0	.	19.1172	0.93346	0.0:0.0:1.0:0.0	.	630	Q9Y2J2	E41L3_HUMAN	L	630	ENSP00000343158:P630L;ENSP00000341138:P630L	ENSP00000343158:P630L	P	-	2	0	EPB41L3	5405995	1.000000	0.71417	0.939000	0.37840	0.975000	0.68041	9.687000	0.98667	2.509000	0.84616	0.563000	0.77884	CCG		0.542	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		18	59	0	0	0	0	18	59				
ANKRD30B	374860	broad.mit.edu	37	18	14797798	14797798	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:14797798A>G	ENST00000358984.4	+	20	2154	c.1974A>G	c.(1972-1974)aaA>aaG	p.K658K	ANKRD30B_ENST00000579292.1_3'UTR	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	658										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GTGGAAGGAAAGTTTCTCTTC	0.279																																						uc010dlo.2		NA																	0				ovary(1)|skin(1)	2						c.(1972-1974)AAA>AAG		ankyrin repeat domain 30B							83.0	69.0	73.0					18																	14797798		692	1589	2281	SO:0001819	synonymous_variant	374860							g.chr18:14797798A>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1974A>G	18.37:g.14797798A>G						ANKRD30B_uc010xak.1_RNA	p.K658K	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			20	2154	+			658					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.1974A>G	CCDS54182.1																																																																																				0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		2	1	0	0	0	0	2	1				
NOL4	8715	broad.mit.edu	37	18	31432903	31432903	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:31432903T>C	ENST00000261592.5	-	11	2117	c.1820A>G	c.(1819-1821)aAt>aGt	p.N607S	NOL4_ENST00000535475.1_Missense_Mutation_p.N388S|NOL4_ENST00000535384.1_Missense_Mutation_p.N322S|NOL4_ENST00000589544.1_Missense_Mutation_p.N505S|NOL4_ENST00000269185.4_Missense_Mutation_p.N391S|NOL4_ENST00000538587.1_Missense_Mutation_p.N533S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	607						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCACGGCATTGATTTCAGT	0.468																																						uc010dmi.2		NA																	0				ovary(3)	3						c.(1819-1821)AAT>AGT		nucleolar protein 4							116.0	102.0	107.0					18																	31432903		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31432903T>C	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1820A>G	18.37:g.31432903T>C	ENSP00000261592:p.Asn607Ser					NOL4_uc010xbs.1_Missense_Mutation_p.N322S|NOL4_uc002kxr.3_Missense_Mutation_p.N379S|NOL4_uc010xbt.1_Missense_Mutation_p.N533S|NOL4_uc010dmh.2_Missense_Mutation_p.N469S|NOL4_uc010xbu.1_Missense_Mutation_p.N543S|NOL4_uc002kxt.3_Missense_Mutation_p.N505S	p.N607S	NM_003787	NP_003778	O94818	NOL4_HUMAN			11	2049	-			607					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1820A>G	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	T	0.984	-0.696232	0.03279	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	L	0.31664	0.95	0.46749	D	0.999187	P;P;P;P;P;B	0.50943	0.655;0.94;0.907;0.655;0.917;0.041	B;P;P;B;D;B	0.63488	0.269;0.465;0.546;0.269;0.915;0.078	T	0.54603	-0.8269	9	0.02654	T	1	-21.7792	16.4338	0.83864	0.0:0.0:0.0:1.0	.	322;533;607;322;505;388	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	S	607;391;322;388;533	.	ENSP00000261592:N607S	N	-	2	0	NOL4	29686901	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.976000	0.56867	2.270000	0.75569	0.533000	0.62120	AAT		0.468	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		25	49	0	0	0	0	25	49				
TSHZ1	10194	broad.mit.edu	37	18	73000493	73000493	+	Missense_Mutation	SNP	G	G	A	rs557571956		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:73000493G>A	ENST00000580243.1	+	2	3479	c.3131G>A	c.(3130-3132)cGg>cAg	p.R1044Q	TSHZ1_ENST00000322038.5_Missense_Mutation_p.R999Q			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1044					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTCTGCAACCGGACTTTTGCG	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19559	0.0		0.0	False		,,,				2504	0.0					uc002lly.2		NA																	0					0						c.(2995-2997)CGG>CAG		teashirt family zinc finger 1							80.0	83.0	82.0					18																	73000493		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:73000493G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.3131G>A	18.37:g.73000493G>A	ENSP00000464391:p.Arg1044Gln						p.R999Q	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	3559	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	1044			C2H2-type 5.		O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.2996G>A		.	.	.	.	.	.	.	.	.	.	G	14.10	2.435311	0.43224	.	.	ENSG00000179981	ENST00000322038	T	0.42131	0.98	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	L	0.49126	1.545	0.41978	D	0.990782	D	0.89917	1.0	D	0.87578	0.998	T	0.66329	-0.5951	10	0.87932	D	0	-38.0559	19.3064	0.94164	0.0:0.0:1.0:0.0	.	1044	Q6ZSZ6	TSH1_HUMAN	Q	999	ENSP00000323584:R999Q	ENSP00000323584:R999Q	R	+	2	0	TSHZ1	71129481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.378000	0.46305	0.655000	0.94253	CGG		0.532	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		24	53	0	0	0	0	24	53				
APC2	10297	broad.mit.edu	37	19	1467216	1467216	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:1467216G>A	ENST00000535453.1	+	14	5629	c.3916G>A	c.(3916-3918)Ggg>Agg	p.G1306R	APC2_ENST00000233607.2_Missense_Mutation_p.G1306R|APC2_ENST00000238483.4_Missense_Mutation_p.G1032R|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CGAgcgcggcgggggcgccgg	0.786																																						uc002lsr.1		NA																	0				breast(3)|pancreas(1)	4						c.(3916-3918)GGG>AGG		adenomatosis polyposis coli 2							5.0	6.0	6.0					19																	1467216		1658	3346	5004	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1467216G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3916G>A	19.37:g.1467216G>A	ENSP00000442954:p.Gly1306Arg					APC2_uc002lss.1_Missense_Mutation_p.G888R|APC2_uc002lst.1_Missense_Mutation_p.G1306R|APC2_uc002lsu.1_Missense_Mutation_p.G1305R|C19orf25_uc010xgn.1_Intron	p.G1306R	NM_005883	NP_005874	O95996	APC2_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)	15	4124	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1306			Interaction with CTNNB1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.3916G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838189	0.16891	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.93247	-3.19;-2.86;-3.19	2.76	0.433	0.16534	.	1.488140	0.03835	N	0.269689	D	0.87067	0.6085	L	0.39898	1.24	0.09310	N	1	B;P	0.47910	0.004;0.902	B;B	0.38616	0.003;0.277	T	0.77528	-0.2554	10	0.13470	T	0.59	-11.4181	3.643	0.08174	0.1641:0.2564:0.5796:0.0	.	1305;1306	O95996-3;O95996	.;APC2_HUMAN	R	1306;1032;1306	ENSP00000233607:G1306R;ENSP00000238483:G1032R;ENSP00000442954:G1306R	ENSP00000233607:G1306R	G	+	1	0	APC2	1418216	0.002000	0.14202	0.000000	0.03702	0.074000	0.17049	0.167000	0.16602	0.195000	0.20347	0.511000	0.50034	GGG		0.786	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		4	11	0	0	0	0	4	11				
SNAPC2	6618	broad.mit.edu	37	19	7986386	7986386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:7986386G>A	ENST00000221573.6	+	2	313	c.262G>A	c.(262-264)Gga>Aga	p.G88R	CTD-3193O13.1_ENST00000564226.1_RNA|SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	88					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TGGCCTTCAGGGACCAAGGCG	0.657																																						uc002miw.1		NA																	0					0						c.(262-264)GGA>AGA		small nuclear RNA activating complex,							38.0	45.0	42.0					19																	7986386		2203	4300	6503	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7986386G>A	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.262G>A	19.37:g.7986386G>A	ENSP00000221573:p.Gly88Arg					SNAPC2_uc002mix.1_RNA	p.G88R	NM_003083	NP_003074	Q13487	SNPC2_HUMAN			2	285	+			88					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.262G>A	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	g	12.33	1.905032	0.33628	.	.	ENSG00000104976	ENST00000221573	T	0.62498	0.02	4.13	3.09	0.35607	.	0.419319	0.17830	N	0.160567	T	0.73001	0.3531	M	0.68317	2.08	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.60546	-0.7242	10	0.54805	T	0.06	-7.7335	7.6858	0.28540	0.1173:0.0:0.8827:0.0	.	88	Q13487	SNPC2_HUMAN	R	88	ENSP00000221573:G88R	ENSP00000221573:G88R	G	+	1	0	SNAPC2	7892386	0.078000	0.21339	0.017000	0.16124	0.020000	0.10135	2.014000	0.40951	0.943000	0.37553	-0.265000	0.10407	GGA		0.657	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		21	36	0	0	0	0	21	36				
SMARCA4	6597	broad.mit.edu	37	19	11105592	11105592	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:11105592C>A	ENST00000429416.3	+	10	1789	c.1508C>A	c.(1507-1509)gCa>gAa	p.A503E	SMARCA4_ENST00000541122.2_Missense_Mutation_p.A503E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A503E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A503E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A503E	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	503	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGACCAAGGCAGTGGCCACG	0.532			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(1507-1509)GCA>GAA		SWI/SNF-related matrix-associated							127.0	103.0	111.0					19																	11105592		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11105592C>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1508C>A	19.37:g.11105592C>A	ENSP00000395654:p.Ala503Glu					SMARCA4_uc010dxp.2_Missense_Mutation_p.A503E|SMARCA4_uc010dxo.2_Missense_Mutation_p.A503E|SMARCA4_uc002mqg.1_Missense_Mutation_p.A503E|SMARCA4_uc010dxq.2_Missense_Mutation_p.A503E|SMARCA4_uc010dxr.2_Missense_Mutation_p.A503E|SMARCA4_uc002mqj.3_Missense_Mutation_p.A503E|SMARCA4_uc010dxs.2_Missense_Mutation_p.A503E|SMARCA4_uc002mqe.2_Missense_Mutation_p.A503E	p.A503E	NM_003072	NP_003063	P51532	SMCA4_HUMAN			9	1792	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	503			HSA.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1508C>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005638	0.93287	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.46	4.46	0.54185	Helicase/SANT-associated, DNA binding (1);HAS subgroup (1);HSA (1);	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.985;0.975;0.999;0.999	D;D;D;D;P;D;D	0.76071	0.974;0.974;0.974;0.94;0.883;0.987;0.987	T	0.77172	-0.2685	10	0.87932	D	0	-26.3724	16.3965	0.83607	0.0:1.0:0.0:0.0	.	503;503;503;503;503;503;503	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	E	503	ENSP00000395654:A503E;ENSP00000350720:A503E;ENSP00000343896:A503E;ENSP00000445036:A503E;ENSP00000392837:A503E;ENSP00000397783:A503E;ENSP00000414727:A503E	ENSP00000343896:A503E	A	+	2	0	SMARCA4	10966592	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	7.581000	0.82535	2.487000	0.83934	0.563000	0.77884	GCA		0.532	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		4	21	1	0	3.86e-05	0.00011387	4	21				
SMARCA4	6597	broad.mit.edu	37	19	11141507	11141507	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:11141507G>T	ENST00000429416.3	+	26	3765	c.3484G>T	c.(3484-3486)Ggc>Tgc	p.G1162C	SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1162C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1162C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1162	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGGGGGGCTCGGCCTGAACCT	0.607			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)		lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3484-3486)GGC>TGC		SWI/SNF-related matrix-associated							24.0	25.0	25.0					19																	11141507		2197	4297	6494	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11141507G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3484G>T	19.37:g.11141507G>T	ENSP00000395654:p.Gly1162Cys					SMARCA4_uc010dxp.2_Missense_Mutation_p.G1162C|SMARCA4_uc010dxo.2_Missense_Mutation_p.G1162C|SMARCA4_uc002mqg.1_Missense_Mutation_p.G1162C|SMARCA4_uc010dxq.2_Missense_Mutation_p.G1162C|SMARCA4_uc010dxr.2_Missense_Mutation_p.G1162C|SMARCA4_uc002mqj.3_Missense_Mutation_p.G1162C|SMARCA4_uc010dxs.2_Missense_Mutation_p.G1162C|SMARCA4_uc010dxt.1_Missense_Mutation_p.G382C|SMARCA4_uc002mqh.3_Missense_Mutation_p.G285C|SMARCA4_uc002mqi.1_Missense_Mutation_p.G365C	p.G1162C	NM_003072	NP_003063	P51532	SMCA4_HUMAN			25	3768	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1162			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3484G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591560	0.86953	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99193	0.9720	H	0.99336	4.52	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98581	1.0650	10	0.87932	D	0	-37.1265	16.3247	0.82975	0.0:0.0:1.0:0.0	.	1162;1162;1162;1162;1162;382;1162;1162	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	C	1162;1162;1226;1162;1162;1162;1162;1162	ENSP00000395654:G1162C;ENSP00000350720:G1162C;ENSP00000343896:G1162C;ENSP00000445036:G1162C;ENSP00000392837:G1162C;ENSP00000397783:G1162C;ENSP00000414727:G1162C	ENSP00000343896:G1162C	G	+	1	0	SMARCA4	11002507	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	9.356000	0.97091	2.389000	0.81357	0.563000	0.77884	GGC		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		6	7	1	0	3.6e-05	0.000106705	6	7				
ZNF844	284391	broad.mit.edu	37	19	12187076	12187076	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:12187076G>C	ENST00000439326.3	+	4	1316	c.1141G>C	c.(1141-1143)Gac>Cac	p.D381H	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	381					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)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCGTTTTGAAGACATGAAAGA	0.383																																						uc002mtb.2		NA																	0					0						c.(1141-1143)GAC>CAC		zinc finger protein 844							42.0	38.0	39.0					19																	12187076		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187076G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1141G>C	19.37:g.12187076G>C	ENSP00000392024:p.Asp381His					ZNF844_uc010dym.1_Missense_Mutation_p.D224H	p.D381H	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1284	+			381					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1141G>C	CCDS45985.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.338|8.338	0.828009|0.828009	0.16749|0.16749	.|.	.|.	ENSG00000223547|ENSG00000223547	ENST00000535505|ENST00000439326;ENST00000541708	.|T	.|0.05258	.|3.47	2.75|2.75	-5.5|-5.5	0.02576|0.02576	.|.	.|.	.|.	.|.	.|.	.|T	.|0.04770	.|0.0129	N|N	0.25890|0.25890	0.77|0.77	0.09310|0.09310	N|N	1|1	.|P	.|0.49961	.|0.93	.|P	.|0.47673	.|0.554	.|T	.|0.04440	.|-1.0951	.|9	.|0.32370	.|T	.|0.25	.|.	3.4921|3.4921	0.07641|0.07641	0.3835:0.0:0.2123:0.4042|0.3835:0.0:0.2123:0.4042	.|.	.|381	.|Q08AG5	.|ZN844_HUMAN	.|H	-1|381	.|ENSP00000392024:D381H	.|ENSP00000392024:D381H	.|D	+|+	.|1	.|0	ZNF844|ZNF844	12048076|12048076	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.100000|0.100000	0.18952|0.18952	-4.191000|-4.191000	0.00277|0.00277	-1.971000|-1.971000	0.01002|0.01002	0.411000|0.411000	0.27672|0.27672	.|GAC		0.383	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			7	21	0	0	0	0	7	21				
ZNF486	90649	broad.mit.edu	37	19	20308131	20308131	+	Silent	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:20308131T>C	ENST00000335117.8	+	4	669	c.612T>C	c.(610-612)gaT>gaC	p.D204D	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AAAAAATTGATACTGGAGAGA	0.358																																						uc002nou.2		NA																	0				ovary(1)	1						c.(610-612)GAT>GAC		zinc finger protein 486							36.0	39.0	38.0					19																	20308131		2116	4253	6369	SO:0001819	synonymous_variant	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20308131T>C	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.612T>C	19.37:g.20308131T>C							p.D204D	NM_052852	NP_443084	Q96H40	ZN486_HUMAN			4	669	+			204					Q0VG00	Silent	SNP	ENST00000335117.8	37	c.612T>C	CCDS46029.1																																																																																				0.358	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		18	38	0	0	0	0	18	38				
ZNF568	374900	broad.mit.edu	37	19	37441482	37441482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:37441482G>A	ENST00000333987.7	+	7	1933	c.1427G>A	c.(1426-1428)tGc>tAc	p.C476Y	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.C412Y	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	476					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTATGAATGCAGTGAATGT	0.393																																						uc002ofc.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1426-1428)TGC>TAC		zinc finger protein 568							58.0	63.0	61.0					19																	37441482		2202	4300	6502	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37441482G>A	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1427G>A	19.37:g.37441482G>A	ENSP00000334685:p.Cys476Tyr					ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.C400Y|ZNF568_uc010efe.2_Missense_Mutation_p.C400Y|ZNF568_uc010eff.1_Intron	p.C476Y	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	1942	+	Esophageal squamous(110;0.183)		476			C2H2-type 10.		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.1427G>A	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175969	0.57692	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	D;D	0.85088	-1.94;-1.94	3.96	3.96	0.45880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36665	N	0.002468	D	0.94810	0.8324	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96175	0.9126	10	0.72032	D	0.01	.	13.8961	0.63773	0.0:0.0:1.0:0.0	.	476	Q3ZCX4	ZN568_HUMAN	Y	476;412	ENSP00000334685:C476Y;ENSP00000394514:C412Y	ENSP00000334685:C476Y	C	+	2	0	ZNF568	42133322	1.000000	0.71417	0.975000	0.42487	0.635000	0.38103	7.104000	0.77024	2.204000	0.70986	0.467000	0.42956	TGC		0.393	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		20	61	0	0	0	0	20	61				
ZNF585B	92285	broad.mit.edu	37	19	37677286	37677286	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:37677286T>A	ENST00000532828.2	-	5	1404	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S330C	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCACAGTCACTGCATTCATAA	0.428																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2		NA																	0				ovary(1)	1						c.(1153-1155)AGT>TGT		zinc finger protein 585B							108.0	101.0	103.0					19																	37677286		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677286T>A	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1153A>T	19.37:g.37677286T>A	ENSP00000433773:p.Ser385Cys					uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.S199C	p.S385C	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1407	-			385			C2H2-type 8.		Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1153A>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	9.899	1.206353	0.22205	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.19669	2.13;3.14	2.89	0.66	0.17868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.194277	0.26268	N	0.025344	T	0.20536	0.0494	L	0.53249	1.67	0.09310	N	0.999998	P;P	0.46020	0.871;0.871	B;P	0.47626	0.327;0.552	T	0.12451	-1.0547	10	0.66056	D	0.02	.	2.2284	0.03990	0.23:0.2983:0.0:0.4716	.	330;385	E9PQH3;Q52M93	.;Z585B_HUMAN	C	330;385	ENSP00000436774:S330C;ENSP00000433773:S385C	ENSP00000436774:S330C	S	-	1	0	ZNF585B	42369126	0.000000	0.05858	0.005000	0.12908	0.636000	0.38137	-3.204000	0.00559	-0.024000	0.13941	0.374000	0.22700	AGT		0.428	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		10	56	0	0	0	0	10	56				
SIPA1L3	23094	broad.mit.edu	37	19	38652910	38652910	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:38652910C>G	ENST00000222345.6	+	14	4188	c.3679C>G	c.(3679-3681)Cct>Gct	p.P1227A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1227					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTGGCATGTGCCTGCCCAGGC	0.582																																						uc002ohk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3679-3681)CCT>GCT		signal-induced proliferation-associated 1 like							86.0	79.0	81.0					19																	38652910		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38652910C>G	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3679C>G	19.37:g.38652910C>G	ENSP00000222345:p.Pro1227Ala						p.P1227A	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		14	4188	+			1227					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3679C>G	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310117	0.81358	.	.	ENSG00000105738	ENST00000222345	T	0.54479	0.57	4.62	4.62	0.57501	.	0.064283	0.64402	D	0.000006	T	0.58075	0.2097	M	0.66297	2.02	0.58432	D	0.999992	P	0.47762	0.9	P	0.45794	0.493	T	0.66356	-0.5944	10	0.72032	D	0.01	-22.1853	16.2461	0.82446	0.0:1.0:0.0:0.0	.	1227	O60292	SI1L3_HUMAN	A	1227	ENSP00000222345:P1227A	ENSP00000222345:P1227A	P	+	1	0	SIPA1L3	43344750	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	6.240000	0.72363	2.117000	0.64856	0.563000	0.77884	CCT		0.582	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		4	51	0	0	0	0	4	51				
SERTAD1	29950	broad.mit.edu	37	19	40929342	40929342	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:40929342G>A	ENST00000357949.4	-	2	270	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	38	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCACGGCCGGGGGTGCCTGT	0.647																																						uc002ont.3		NA																	0					0						c.(112-114)CCG>TCG		SERTA domain containing 1							24.0	28.0	27.0					19																	40929342		2195	4289	6484	SO:0001583	missense	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929342G>A	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.112C>T	19.37:g.40929342G>A	ENSP00000350633:p.Pro38Ser						p.P38S	NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	271	-			38			SERTA.		Q9BUE7	Missense_Mutation	SNP	ENST00000357949.4	37	c.112C>T	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	G	2.759	-0.258289	0.05791	.	.	ENSG00000197019	ENST00000357949	T	0.45276	0.9	5.0	2.76	0.32466	.	0.584002	0.17754	N	0.163133	T	0.26484	0.0647	N	0.22421	0.69	0.09310	N	1	B	0.26081	0.141	B	0.25759	0.063	T	0.17349	-1.0372	10	0.13108	T	0.6	-0.5853	11.6817	0.51461	0.0:0.3427:0.6573:0.0	.	38	Q9UHV2	SRTD1_HUMAN	S	38	ENSP00000350633:P38S	ENSP00000350633:P38S	P	-	1	0	SERTAD1	45621182	0.741000	0.28217	0.004000	0.12327	0.011000	0.07611	1.584000	0.36589	0.460000	0.27045	0.561000	0.74099	CCG		0.647	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		12	21	0	0	0	0	12	21				
PSG7	5676	broad.mit.edu	37	19	43433722	43433722	+	RNA	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:43433722T>A	ENST00000406070.2	-	0	677				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTCAGACAGCTGCAAGCTGTG	0.512																																						uc002ovl.3		NA																	0					0						c.(580-582)CAG>CTG		pregnancy specific beta-1-glycoprotein 7							295.0	296.0	295.0					19																	43433722		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433722T>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433722T>A						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_Missense_Mutation_p.Q13L|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.Q72L	p.Q194L	NM_002783	NP_002774	Q13046	PSG7_HUMAN			4	683	-		Prostate(69;0.00682)	194			Ig-like C2-type 1.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.581A>T																																																																																					0.512	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		138	254	0	0	0	0	138	254				
PRR12	57479	broad.mit.edu	37	19	50099588	50099588	+	Missense_Mutation	SNP	G	G	A	rs542085119	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:50099588G>A	ENST00000418929.2	+	4	2008	c.1996G>A	c.(1996-1998)Ggg>Agg	p.G666R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGCGAGGACGGGGCAGCAGA	0.672													G|||	2	0.000399361	0.0	0.0	5008	,	,		13575	0.0		0.0	False		,,,				2504	0.002					uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1996-1998)GGG>AGG		proline rich 12							13.0	16.0	15.0					19																	50099588		1874	4027	5901	SO:0001583	missense	57479						DNA binding	g.chr19:50099588G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1996G>A	19.37:g.50099588G>A	ENSP00000394510:p.Gly666Arg						p.G666R	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1996	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1996G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	7.876	0.729106	0.15507	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.61	2.57	0.30868	.	.	.	.	.	T	0.28001	0.0690	.	.	.	0.19575	N	0.999963	B	0.23490	0.086	B	0.13407	0.009	T	0.15464	-1.0436	7	0.39692	T	0.17	.	6.958	0.24582	0.22:0.0:0.78:0.0	.	666	Q9ULL5-3	.	R	666	.	ENSP00000394510:G666R	G	+	1	0	PRR12	54791400	0.625000	0.27111	0.835000	0.33067	0.898000	0.52572	2.128000	0.42045	0.884000	0.36064	0.297000	0.19635	GGG		0.672	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		4	11	0	0	0	0	4	11				
SIGLEC9	27180	broad.mit.edu	37	19	51633226	51633226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:51633226G>T	ENST00000250360.3	+	7	1349	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	428					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCAGTGGGGGAAGGAGAGCT	0.607																																						uc002pvu.2		NA																	0				skin(1)	1						c.(1282-1284)GAA>TAA		sialic acid binding Ig-like lectin 9 precursor							68.0	68.0	68.0					19																	51633226		2203	4300	6503	SO:0001587	stop_gained	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51633226G>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1282G>T	19.37:g.51633226G>T	ENSP00000250360:p.Glu428*					SIGLEC9_uc010yct.1_Intron	p.E428*	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	7	1349	+		all_neural(266;0.0529)	428			Cytoplasmic (Potential).		Q6GTU4|Q9BYI9	Nonsense_Mutation	SNP	ENST00000250360.3	37	c.1282G>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	14.35	2.509454	0.44660	.	.	ENSG00000129450	ENST00000250360	.	.	.	1.96	-0.634	0.11516	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	3.3545	0.07164	0.1787:0.2705:0.5507:0.0	.	.	.	.	X	428	.	ENSP00000250360:E428X	E	+	1	0	SIGLEC9	56325038	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.079000	0.14782	-0.050000	0.13356	0.514000	0.50259	GAA		0.607	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		9	77	1	0	0.000274275	0.000793494	9	77				
ZNF808	388558	broad.mit.edu	37	19	53058290	53058290	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:53058290C>T	ENST00000359798.4	+	5	2301	c.2121C>T	c.(2119-2121)taC>taT	p.Y707Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	707					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGAAACCTTACAAGTGTAATG	0.413																																						uc010epq.1		NA																	0					0						c.(2119-2121)TAC>TAT		zinc finger protein 808							228.0	225.0	226.0					19																	53058290		2203	4300	6503	SO:0001819	synonymous_variant	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058290C>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2121C>T	19.37:g.53058290C>T						ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.Y707Y	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2298	+			707			C2H2-type 18.		Q68CN7	Silent	SNP	ENST00000359798.4	37	c.2121C>T	CCDS46167.1																																																																																				0.413	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		19	250	0	0	0	0	19	250				
VN1R2	317701	broad.mit.edu	37	19	53762612	53762612	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:53762612C>T	ENST00000341702.3	+	1	1068	c.984C>T	c.(982-984)taC>taT	p.Y328Y	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	328					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CATTATGTTACGCCCTTTCCT	0.443																																						uc002qbi.2		NA																	0					0						c.(982-984)TAC>TAT		vomeronasal 1 receptor 2							272.0	235.0	248.0					19																	53762612		2203	4300	6503	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762612C>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.984C>T	19.37:g.53762612C>T							p.Y328Y	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1068	+			328			Helical; Name=6; (Potential).		A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.984C>T	CCDS12862.1																																																																																				0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		45	109	0	0	0	0	45	109				
CACNG6	59285	broad.mit.edu	37	19	54496175	54496175	+	Missense_Mutation	SNP	G	G	C	rs538013052	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:54496175G>C	ENST00000252729.2	+	1	634	c.44G>C	c.(43-45)cGg>cCg	p.R15P	CACNG6_ENST00000346968.2_Missense_Mutation_p.R15P|CACNG6_ENST00000352529.1_Missense_Mutation_p.R15P	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	15					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AAccggcggcggggggccgcg	0.736																																						uc002qct.2		NA																	0				ovary(2)	2						c.(43-45)CGG>CCG		voltage-dependent calcium channel gamma-6							9.0	12.0	11.0					19																	54496175		1234	2522	3756	SO:0001583	missense	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54496175G>C	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.44G>C	19.37:g.54496175G>C	ENSP00000252729:p.Arg15Pro					CACNG6_uc002qcu.2_Missense_Mutation_p.R15P|CACNG6_uc002qcv.2_Missense_Mutation_p.R15P	p.R15P	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	1	634	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		15						Missense_Mutation	SNP	ENST00000252729.2	37	c.44G>C	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	.	17.38	3.375982	0.61735	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.32753	1.46;1.44;1.46	2.97	2.97	0.34412	.	0.571192	0.15452	U	0.261622	T	0.37999	0.1024	N	0.24115	0.695	0.34679	D	0.724482	D;D;D	0.76494	0.994;0.999;0.998	P;D;D	0.85130	0.885;0.997;0.992	T	0.50083	-0.8869	10	0.59425	D	0.04	-15.2774	9.5302	0.39189	0.0:0.0:1.0:0.0	.	15;15;15	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	P	15	ENSP00000252729:R15P;ENSP00000319135:R15P;ENSP00000319097:R15P	ENSP00000252729:R15P	R	+	2	0	CACNG6	59187987	0.641000	0.27251	0.928000	0.36995	0.959000	0.62525	1.098000	0.31000	1.671000	0.50874	0.471000	0.43371	CGG		0.736	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			8	17	0	0	0	0	8	17				
KIR3DL1	3811	broad.mit.edu	37	19	55294944	55294944	+	Intron	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:55294944C>T	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A275V|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.A275V|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A301V|KIR2DL4_ENST00000396284.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACAGATGCTGCGGTAATGGAC	0.517																																						uc002qhb.1		NA																	0					0						c.(823-825)GCG>GTG		killer cell immunoglobulin-like receptor, two							131.0	132.0	132.0					19																	55294944		2170	4191	6361	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55294944C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-34045C>T	19.37:g.55294944C>T						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_5'Flank|KIR2DL3_uc010erw.1_Missense_Mutation_p.A276V|KIR2DL1_uc002qgz.1_Missense_Mutation_p.A185V|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.A301V	p.A275V	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	862	+			275			Cytoplasmic (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.824C>T		.	.	.	.	.	.	.	.	.	.	C	7.873	0.728611	0.15507	.	.	ENSG00000243772;ENSG00000125498;ENSG00000125498	ENST00000434419;ENST00000336077;ENST00000291633	T;T;T	0.00502	7.11;7.07;6.95	0.929	-0.622	0.11560	.	.	.	.	.	T	0.00496	0.0016	M	0.67953	2.075	0.09310	N	1	B;B;B	0.26547	0.152;0.008;0.071	B;B;B	0.20184	0.028;0.013;0.024	T	0.39742	-0.9599	9	0.56958	D	0.05	.	4.3733	0.11258	0.0:0.5684:0.4315:0.0	.	301;275;275	Q6IST4;Q6H2H3;P43627	.;.;KI2L2_HUMAN	V	275;275;301	ENSP00000415758:A275V;ENSP00000336769:A275V;ENSP00000291633:A301V	ENSP00000291633:A301V	A	+	2	0	KIR2DL1;KIR2DL3	59986756	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	1.250000	0.32850	-0.121000	0.11787	0.184000	0.17185	GCG		0.517	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		11	55	0	0	0	0	11	55				
ZNF550	162972	broad.mit.edu	37	19	58058918	58058918	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:58058918C>G	ENST00000457177.1	-	4	874	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.E191Q|ZNF550_ENST00000325134.5_Missense_Mutation_p.E200Q|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	232					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(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCATTGCATTCATAGGGTTTC	0.488																																						uc002qpe.1		NA																	0					0						c.(571-573)GAA>CAA		zinc finger protein 550							161.0	122.0	135.0					19																	58058918		2203	4300	6503	SO:0001583	missense	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58058918C>G	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.694G>C	19.37:g.58058918C>G	ENSP00000469679:p.Glu232Gln					ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	p.E191Q	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	571	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	232			C2H2-type 2.		B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	ENST00000457177.1	37	c.571G>C		.	.	.	.	.	.	.	.	.	.	C	12.96	2.093361	0.36952	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.20200	2.09;2.09	3.61	-1.09	0.09904	.	.	.	.	.	T	0.10423	0.0255	N	0.11106	0.095	0.09310	N	1	B	0.26195	0.144	B	0.32533	0.147	T	0.35574	-0.9783	9	0.66056	D	0.02	-6.1328	2.5973	0.04857	0.3592:0.3118:0.0:0.3291	.	200	Q7Z398-2	.	Q	232;200;191	ENSP00000446224:E200Q;ENSP00000422344:E191Q	ENSP00000446224:E200Q	E	-	1	0	AC003682.1	62750730	0.000000	0.05858	0.015000	0.15790	0.716000	0.41182	-2.751000	0.00792	0.009000	0.14813	0.655000	0.94253	GAA		0.488	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		16	38	0	0	0	0	16	38				
ZNF551	90233	broad.mit.edu	37	19	58198329	58198329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:58198329G>A	ENST00000282296.5	+	3	871	c.686G>A	c.(685-687)aGa>aAa	p.R229K	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R213K			Q7Z340	ZN551_HUMAN	zinc finger protein 551	229					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		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)		GGTGAATACAGAAAAGCTTCA	0.453																																						uc002qpw.3		NA																	0				ovary(1)	1						c.(637-639)AGA>AAA		zinc finger protein 551							75.0	77.0	77.0					19																	58198329		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198329G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.686G>A	19.37:g.58198329G>A	ENSP00000282296:p.Arg229Lys					ZNF551_uc002qpv.3_Missense_Mutation_p.R156K|ZNF776_uc002qpx.2_Intron	p.R213K	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	861	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	229					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.638G>A	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	0.193	-1.051292	0.01981	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.59	-5.14	0.02875	.	.	.	.	.	T	0.20740	0.0499	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20338	-1.0278	8	0.62326	D	0.03	.	5.2475	0.15504	0.3433:0.2868:0.3699:0.0	.	229	Q7Z340	ZN551_HUMAN	K	229;213;123	.	ENSP00000282296:R213K	R	+	2	0	ZNF551	62890141	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-1.154000	0.02825	-1.263000	0.01449	AGA		0.453	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		6	64	0	0	0	0	6	64				
PXDN	7837	broad.mit.edu	37	2	1651956	1651956	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:1651956T>C	ENST00000252804.4	-	17	3646	c.3596A>G	c.(3595-3597)gAg>gGg	p.E1199G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1199					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTTCAGTTTCTCCCGGATCTC	0.512																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(3595-3597)GAG>GGG		peroxidasin precursor							104.0	113.0	110.0					2																	1651956		2002	4174	6176	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1651956T>C	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3596A>G	2.37:g.1651956T>C	ENSP00000252804:p.Glu1199Gly						p.E1199G	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3660	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1199					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3596A>G	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682704	0.68157	.	.	ENSG00000130508	ENST00000252804	T	0.70516	-0.49	5.48	4.26	0.50523	.	0.170105	0.51477	D	0.000082	T	0.77618	0.4157	M	0.81112	2.525	0.54753	D	0.999985	P	0.48294	0.908	P	0.50537	0.643	T	0.81212	-0.1035	10	0.62326	D	0.03	-41.6678	12.2124	0.54388	0.0:0.0:0.1422:0.8578	.	1199	Q92626	PXDN_HUMAN	G	1199	ENSP00000252804:E1199G	ENSP00000252804:E1199G	E	-	2	0	PXDN	1630963	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.158000	0.71851	2.092000	0.63282	0.529000	0.55759	GAG		0.512	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		34	202	0	0	0	0	34	202				
ROCK2	9475	broad.mit.edu	37	2	11367521	11367521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:11367521C>T	ENST00000315872.6	-	6	1175	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	ROCK2_ENST00000401753.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		TGTACCATGCCTGTCTGCATG	0.373																																						uc002rbd.1		NA																	0				stomach(2)|skin(2)	4						c.(727-729)GGC>AGC		Rho-associated, coiled-coil containing protein							186.0	181.0	182.0					2																	11367521		1909	4145	6054	SO:0001583	missense	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.chr2:11367521C>T	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.727G>A	2.37:g.11367521C>T	ENSP00000317985:p.Gly243Ser						p.G243S	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	6	1176	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		243			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.727G>A	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815408	0.90790	.	.	ENSG00000134318	ENST00000315872;ENST00000431087	T;T	0.62788	0.0;1.55	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	N	0.11106	0.095	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73452	-0.3978	10	0.66056	D	0.02	.	18.5343	0.91004	0.0:1.0:0.0:0.0	.	243	O75116	ROCK2_HUMAN	S	243;70	ENSP00000317985:G243S;ENSP00000395957:G70S	ENSP00000261535:G243S	G	-	1	0	ROCK2	11284972	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.818000	0.86416	2.444000	0.82710	0.585000	0.79938	GGC		0.373	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			54	130	0	0	0	0	54	130				
DNMT3A	1788	broad.mit.edu	37	2	25468197	25468197	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:25468197G>A	ENST00000264709.3	-	13	1816	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	DNMT3A_ENST00000321117.5_Silent_p.I493I|DNMT3A_ENST00000380746.4_Silent_p.I304I|DNMT3A_ENST00000402667.1_Silent_p.I270I|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	493	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGATGCAGATGTCTGGAA	0.602			"""Mis, F, N, S"""		AML																																	uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(1477-1479)ATC>ATT		DNA cytosine methyltransferase 3 alpha isoform							79.0	79.0	79.0					2																	25468197		2203	4300	6503	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25468197G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1479C>T	2.37:g.25468197G>A						DNMT3A_uc002rgd.2_Silent_p.I493I|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.I304I	p.I493I	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			13	1736	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		493			GATA-type; atypical.|ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1479C>T	CCDS33157.1																																																																																				0.602	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		34	36	0	0	0	0	34	36				
RGPD4	285190	broad.mit.edu	37	2	108488441	108488441	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:108488441A>G	ENST00000408999.3	+	20	4058	c.3981A>G	c.(3979-3981)gaA>gaG	p.E1327E	RGPD4_ENST00000354986.4_Silent_p.E1327E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1327					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTACTCAAGAAGAAGAGAGAG	0.393																																						uc010ywk.1		NA																	0				skin(2)	2						c.(3979-3981)GAA>GAG		RANBP2-like and GRIP domain containing 4							16.0	14.0	14.0					2																	108488441		692	1577	2269	SO:0001819	synonymous_variant	285190				intracellular transport		binding	g.chr2:108488441A>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3981A>G	2.37:g.108488441A>G						RGPD4_uc002tdu.2_Silent_p.E514E|RGPD4_uc010ywl.1_Intron	p.E1327E	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	4063	+			1327					B9A029	Silent	SNP	ENST00000408999.3	37	c.3981A>G	CCDS46381.1																																																																																				0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		17	233	0	0	0	0	17	233				
MERTK	10461	broad.mit.edu	37	2	112786077	112786077	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:112786077A>G	ENST00000295408.4	+	19	2893	c.2636A>G	c.(2635-2637)gAg>gGg	p.E879G	MERTK_ENST00000421804.2_Missense_Mutation_p.E879G|MERTK_ENST00000409780.1_Missense_Mutation_p.E703G			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	879					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						CAGTTGCTGGAGAGCTCTGAG	0.522																																						uc002thk.1		NA																	0				lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(2635-2637)GAG>GGG		MER receptor tyrosine kinase precursor							126.0	129.0	128.0					2																	112786077		2203	4300	6503	SO:0001583	missense	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.chr2:112786077A>G	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.2636A>G	2.37:g.112786077A>G	ENSP00000295408:p.Glu879Gly					MERTK_uc002thl.1_Missense_Mutation_p.E703G	p.E879G	NM_006343	NP_006334	Q12866	MERTK_HUMAN			19	2758	+			879			Cytoplasmic (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2636A>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.315260	0.23908	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;D	0.84730	-1.07;-1.07;-1.04;-1.89	5.73	3.34	0.38264	Protein kinase-like domain (1);	0.000000	0.33895	U	0.004446	D	0.82273	0.5001	M	0.71581	2.175	0.43824	D	0.996391	B	0.23650	0.089	B	0.19391	0.025	T	0.76591	-0.2903	10	0.54805	T	0.06	-20.6491	9.0954	0.36636	0.8415:0.0:0.1585:0.0	.	879	Q12866	MERTK_HUMAN	G	879;879;538;703;203	ENSP00000295408:E879G;ENSP00000389152:E879G;ENSP00000387277:E703G;ENSP00000412660:E203G	ENSP00000295408:E879G	E	+	2	0	MERTK	112502548	1.000000	0.71417	0.057000	0.19452	0.012000	0.07955	3.646000	0.54396	0.430000	0.26230	0.533000	0.62120	GAG		0.522	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			43	164	0	0	0	0	43	164				
SLC20A1	6574	broad.mit.edu	37	2	113417263	113417263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:113417263G>A	ENST00000272542.3	+	8	2070	c.1531G>A	c.(1531-1533)Gtc>Atc	p.V511I		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	511					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAAGCCTGAAGTCTCTCTCCT	0.468																																						uc002tib.2		NA																	0				ovary(2)	2						c.(1531-1533)GTC>ATC		solute carrier family 20 (phosphate							163.0	160.0	161.0					2																	113417263		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113417263G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1531G>A	2.37:g.113417263G>A	ENSP00000272542:p.Val511Ile					SLC20A1_uc002tic.1_Missense_Mutation_p.V323I	p.V511I	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			8	1977	+			511			Helical; (Potential).		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.1531G>A	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040566	0.55003	.	.	ENSG00000144136	ENST00000272542;ENST00000409095	D	0.90563	-2.69	5.26	3.08	0.35506	.	0.117180	0.56097	N	0.000024	D	0.86781	0.6015	L	0.41356	1.27	0.45899	D	0.998749	B;B	0.28820	0.224;0.224	B;B	0.36186	0.219;0.219	D	0.84025	0.0356	10	0.45353	T	0.12	-28.222	10.6519	0.45653	0.1904:0.0:0.8096:0.0	.	511;511	A7LNJ1;Q8WUM9	.;S20A1_HUMAN	I	511;323	ENSP00000272542:V511I	ENSP00000272542:V511I	V	+	1	0	SLC20A1	113133734	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.698000	0.74608	1.199000	0.43173	0.655000	0.94253	GTC		0.468	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		11	163	0	0	0	0	11	163				
IL36A	27179	broad.mit.edu	37	2	113764229	113764229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:113764229G>C	ENST00000259211.6	+	3	590	c.179G>C	c.(178-180)gGg>gCg	p.G60A		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	60					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						AAAGACAGAGGGAACCCCATC	0.527																																						uc010yxr.1		NA																	0					0						c.(178-180)GGG>GCG		interleukin 1 family, member 6 (epsilon)							251.0	254.0	253.0					2																	113764229		1992	4160	6152	SO:0001583	missense	27179				immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113764229G>C	AF201831	CCDS42734.1	2q12-q14.1	2011-07-14	2011-06-06	2011-06-06	ENSG00000136694	ENSG00000136694		"""Interleukins and interleukin receptors"""	15562	protein-coding gene	gene with protein product		605509	"""interleukin 1 family, member 6 (epsilon)"""	IL1F6		10625660	Standard	XM_005263639		Approved	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552	uc010yxr.2	Q9UHA7	OTTHUMG00000153320	ENST00000259211.6:c.179G>C	2.37:g.113764229G>C	ENSP00000259211:p.Gly60Ala						p.G60A	NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN			3	179	+			60					B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8	Missense_Mutation	SNP	ENST00000259211.6	37	c.179G>C	CCDS42734.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889222	0.52014	.	.	ENSG00000136694	ENST00000259211	T	0.18810	2.19	5.11	4.23	0.50019	.	0.000000	0.64402	D	0.000020	T	0.40619	0.1124	M	0.76170	2.325	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.23404	-1.0189	10	0.21014	T	0.42	-12.4534	9.4903	0.38955	0.0959:0.0:0.9041:0.0	.	60	Q9UHA7	IL36A_HUMAN	A	60	ENSP00000259211:G60A	ENSP00000259211:G60A	G	+	2	0	IL36A	113480700	0.957000	0.32711	0.119000	0.21687	0.824000	0.46624	3.958000	0.56737	1.359000	0.45940	0.591000	0.81541	GGG		0.527	IL36A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330711.1	NM_014440		61	221	0	0	0	0	61	221				
EN1	2019	broad.mit.edu	37	2	119603946	119603946	+	Silent	SNP	C	C	T	rs368737948		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:119603946C>T	ENST00000295206.6	-	1	1308	c.798G>A	c.(796-798)tcG>tcA	p.S266S	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	266					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GAGGCTGCTGCGAGTCAGTTT	0.637																																						uc002tlm.2		NA																	0				large_intestine(1)|lung(1)	2						c.(796-798)TCG>TCA		engrailed homeobox 1							23.0	28.0	26.0					2																	119603946		2202	4299	6501	SO:0001819	synonymous_variant	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119603946C>T	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.798G>A	2.37:g.119603946C>T							p.S266S	NM_001426	NP_001417	Q05925	HME1_HUMAN			1	1814	-			266					Q4ZG44	Silent	SNP	ENST00000295206.6	37	c.798G>A	CCDS2123.1																																																																																				0.637	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			5	14	0	0	0	0	5	14				
ZEB2	9839	broad.mit.edu	37	2	145156077	145156077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:145156077G>A	ENST00000558170.2	-	8	3861	c.2677C>T	c.(2677-2679)Cct>Tct	p.P893S	ZEB2_ENST00000539609.3_Missense_Mutation_p.P869S|ZEB2_ENST00000409487.3_Missense_Mutation_p.P893S|ZEB2_ENST00000303660.4_Missense_Mutation_p.P893S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	893					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.P893S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGTATAAAGGTTTGGCACTA	0.438																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(2677-2679)CCT>TCT		zinc finger homeobox 1b							168.0	160.0	162.0					2																	145156077		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156077G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2677C>T	2.37:g.145156077G>A	ENSP00000454157:p.Pro893Ser					ZEB2_uc002tvv.2_Missense_Mutation_p.P887S|ZEB2_uc010zbm.1_Missense_Mutation_p.P864S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P922S	p.P893S	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3157	-			893					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.2677C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067176	0.55539	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14766	2.52;2.48;2.48	5.96	5.08	0.68730	.	0.092903	0.85682	D	0.000000	T	0.34454	0.0898	M	0.68593	2.085	0.80722	D	1	D;B;P;P	0.76494	0.999;0.104;0.798;0.798	P;B;B;B	0.62885	0.908;0.081;0.3;0.3	T	0.12116	-1.0560	10	0.72032	D	0.01	-1.6034	16.3329	0.83049	0.0:0.0:0.8604:0.1396	.	869;758;892;893	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	S	869;893;893	ENSP00000443792:P869S;ENSP00000302501:P893S;ENSP00000386854:P893S	ENSP00000302501:P893S	P	-	1	0	ZEB2	144872547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.968000	0.87980	1.489000	0.48450	0.655000	0.94253	CCT		0.438	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		9	177	0	0	0	0	9	177				
NEB	4703	broad.mit.edu	37	2	152423805	152423805	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:152423805G>A	ENST00000172853.10	-	86	13077	c.12930C>T	c.(12928-12930)gcC>gcT	p.A4310A	NEB_ENST00000603639.1_Silent_p.A6011A|NEB_ENST00000604864.1_Silent_p.A6011A|NEB_ENST00000397345.3_Silent_p.A6011A|NEB_ENST00000427231.2_Silent_p.A6011A|NEB_ENST00000409198.1_Silent_p.A4310A			P20929	NEBU_HUMAN	nebulin	4310					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTGCTTGGCGGCCAAGACTG	0.438																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(12928-12930)GCC>GCT		nebulin isoform 3							171.0	160.0	164.0					2																	152423805		1953	4153	6106	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152423805G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12930C>T	2.37:g.152423805G>A						NEB_uc002txr.2_Silent_p.A733A	p.A4310A	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	86	13121	-			4310			Nebulin 118.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.12930C>T																																																																																					0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		52	53	0	0	0	0	52	53				
NEB	4703	broad.mit.edu	37	2	152483591	152483591	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:152483591G>C	ENST00000172853.10	-	66	9690	c.9543C>G	c.(9541-9543)gaC>gaG	p.D3181E	NEB_ENST00000603639.1_Missense_Mutation_p.D3424E|NEB_ENST00000604864.1_Missense_Mutation_p.D3424E|NEB_ENST00000397345.3_Missense_Mutation_p.D3424E|NEB_ENST00000427231.2_Missense_Mutation_p.D3424E|NEB_ENST00000409198.1_Missense_Mutation_p.D3181E			P20929	NEBU_HUMAN	nebulin	3181					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTTCAGCTTGTCCGGAGGCT	0.488																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(9541-9543)GAC>GAG		nebulin isoform 3							131.0	132.0	132.0					2																	152483591		2055	4226	6281	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152483591G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9543C>G	2.37:g.152483591G>C	ENSP00000172853:p.Asp3181Glu						p.D3181E	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	66	9734	-			3181			Nebulin 86.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9543C>G		.	.	.	.	.	.	.	.	.	.	G	12.16	1.855689	0.32791	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05580	3.42;3.48;3.51;3.42	5.39	2.58	0.30949	.	0.196730	0.52532	D	0.000071	T	0.06872	0.0175	L	0.53249	1.67	0.80722	D	1	B	0.15141	0.012	B	0.17098	0.017	T	0.19943	-1.0290	10	0.35671	T	0.21	.	7.0905	0.25282	0.204:0.129:0.667:0.0	.	3181	P20929	NEBU_HUMAN	E	3181;3424;3424;3181	ENSP00000386259:D3181E;ENSP00000380505:D3424E;ENSP00000416578:D3424E;ENSP00000172853:D3181E	ENSP00000172853:D3181E	D	-	3	2	NEB	152191837	1.000000	0.71417	0.998000	0.56505	0.426000	0.31534	2.328000	0.43867	0.753000	0.32945	0.655000	0.94253	GAC		0.488	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		9	111	0	0	0	0	9	111				
COL3A1	1281	broad.mit.edu	37	2	189870100	189870100	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:189870100A>T	ENST00000304636.3	+	41	3126	c.2956A>T	c.(2956-2958)Aac>Tac	p.N986Y	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	986	Triple-helical region.			ANGLS -> PSGQN (in Ref. 22; AA sequence). {ECO:0000305}.	aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ACCAGGAGCTAACGGTCTCAG	0.433																																						uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2956-2958)AAC>TAC		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						113.0	117.0	115.0					2																	189870100		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189870100A>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2956A>T	2.37:g.189870100A>T	ENSP00000304408:p.Asn986Tyr						p.N986Y	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		41	3073	+			986	ANGLS -> PSGQN (in Ref. 20; AA sequence).		Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2956A>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.835661	0.50951	.	.	ENSG00000168542	ENST00000304636	D	0.93811	-3.29	5.5	3.07	0.35406	.	0.538514	0.18159	N	0.149839	D	0.94358	0.8186	L	0.39898	1.24	0.09310	N	0.999996	D	0.69078	0.997	D	0.77557	0.99	D	0.88360	0.2987	10	0.72032	D	0.01	.	12.6558	0.56786	0.7579:0.2421:0.0:0.0	.	986	P02461	CO3A1_HUMAN	Y	986	ENSP00000304408:N986Y	ENSP00000304408:N986Y	N	+	1	0	COL3A1	189578345	0.001000	0.12720	0.200000	0.23457	0.898000	0.52572	0.137000	0.15995	0.360000	0.24265	0.528000	0.53228	AAC		0.433	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		52	62	0	0	0	0	52	62				
NRP2	8828	broad.mit.edu	37	2	206590770	206590770	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:206590770G>T	ENST00000357785.5	+	6	985	c.954G>T	c.(952-954)tgG>tgT	p.W318C	NRP2_ENST00000417189.1_Missense_Mutation_p.W318C|NRP2_ENST00000540178.1_Missense_Mutation_p.W318C|NRP2_ENST00000272849.3_Missense_Mutation_p.W318C|NRP2_ENST00000355117.4_Missense_Mutation_p.W318C|NRP2_ENST00000360409.3_Missense_Mutation_p.W318C|NRP2_ENST00000540841.1_Missense_Mutation_p.W318C|NRP2_ENST00000412873.2_Missense_Mutation_p.W318C|NRP2_ENST00000357118.4_Missense_Mutation_p.W318C			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACAATGGCTGGACCCCCAACT	0.522																																						uc002vaw.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(952-954)TGG>TGT		neuropilin 2 isoform 1 precursor							118.0	101.0	106.0					2																	206590770		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206590770G>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.954G>T	2.37:g.206590770G>T	ENSP00000350432:p.Trp318Cys					NRP2_uc002vat.2_Missense_Mutation_p.W318C|NRP2_uc002vau.2_Missense_Mutation_p.W318C|NRP2_uc002vav.2_Missense_Mutation_p.W318C|NRP2_uc002vax.2_Missense_Mutation_p.W318C|NRP2_uc002vay.2_Missense_Mutation_p.W318C|NRP2_uc010fud.2_Missense_Mutation_p.W318C	p.W318C	NM_201266	NP_957718	O60462	NRP2_HUMAN			6	1745	+			318			Extracellular (Potential).|F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.954G>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781011	0.90282	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.99878	-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42;-7.42	5.8	5.8	0.92144	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	H	0.99404	4.55	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.83275	0.996;0.996;0.982;0.996;0.996;0.96	D	0.96197	0.9142	10	0.62326	D	0.03	-15.6795	20.063	0.97692	0.0:0.0:1.0:0.0	.	318;318;318;318;318;318	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	318	ENSP00000353582:W318C;ENSP00000439658:W318C;ENSP00000439261:W318C;ENSP00000347238:W318C;ENSP00000387519:W318C;ENSP00000349632:W318C;ENSP00000350432:W318C;ENSP00000407626:W318C;ENSP00000272849:W318C	ENSP00000272849:W318C	W	+	3	0	NRP2	206299015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	TGG		0.522	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			15	40	1	0	1.52e-12	4.91e-12	15	40				
IKZF2	22807	broad.mit.edu	37	2	213878608	213878608	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:213878608T>C	ENST00000434687.1	-	8	1072	c.763A>G	c.(763-765)Att>Gtt	p.I255V	IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000457361.1_Missense_Mutation_p.I255V|IKZF2_ENST00000451136.2_Missense_Mutation_p.I183V|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000342002.2_Missense_Mutation_p.I261V|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Missense_Mutation_p.I110V|IKZF2_ENST00000374319.4_Missense_Mutation_p.I229V			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	255					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ACCAGAGAAATATTGTTGTCC	0.388																																						uc002vem.2		NA																	0					0						c.(763-765)ATT>GTT		helios isoform 1							129.0	127.0	128.0					2																	213878608		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213878608T>C	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.763A>G	2.37:g.213878608T>C	ENSP00000412869:p.Ile255Val					IKZF2_uc010fuu.2_Missense_Mutation_p.I110V|IKZF2_uc002vej.2_Missense_Mutation_p.I202V|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Intron|IKZF2_uc002vel.2_Missense_Mutation_p.I176V|IKZF2_uc010fuw.2_Missense_Mutation_p.I29V|IKZF2_uc010fux.2_Missense_Mutation_p.I29V|IKZF2_uc010fuy.2_Missense_Mutation_p.I183V|IKZF2_uc002ven.2_Missense_Mutation_p.I229V|IKZF2_uc002vei.2_Missense_Mutation_p.I33V	p.I255V	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	7	932	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	255					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.763A>G	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701555	0.48307	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.14144	3.27;3.23;3.27;3.31;3.34;2.53	5.4	5.4	0.78164	.	0.068551	0.64402	D	0.000011	T	0.14141	0.0342	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.0;0.004;0.001;0.0;0.001	T	0.03608	-1.1020	10	0.33940	T	0.23	-0.3349	11.6754	0.51427	0.0:0.0:0.1479:0.8521	.	183;110;229;255;33	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	V	255;261;255;229;183;110	ENSP00000410447:I255V;ENSP00000342876:I261V;ENSP00000412869:I255V;ENSP00000363439:I229V;ENSP00000395203:I183V;ENSP00000363447:I110V	ENSP00000342876:I261V	I	-	1	0	IKZF2	213586853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.885000	0.56182	2.171000	0.68590	0.459000	0.35465	ATT		0.388	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		38	70	0	0	0	0	38	70				
SLC19A3	80704	broad.mit.edu	37	2	228560704	228560704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:228560704C>T	ENST00000258403.3	-	4	1144	c.1073G>A	c.(1072-1074)gGt>gAt	p.G358D	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G354D	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	358					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AAATAAAGAACCGGCATTGAC	0.468																																						uc002vpi.2		NA																	0				ovary(2)	2						c.(1072-1074)GGT>GAT		solute carrier family 19, member 3	L-Cysteine(DB00151)						82.0	93.0	89.0					2																	228560704		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228560704C>T	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1073G>A	2.37:g.228560704C>T	ENSP00000258403:p.Gly358Asp					SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.G354D	p.G358D	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	4	1162	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	358			Helical; (Potential).			Missense_Mutation	SNP	ENST00000258403.3	37	c.1073G>A	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461724	0.26248	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.80994	-1.44;-1.44	5.03	2.06	0.26882	Major facilitator superfamily domain, general substrate transporter (1);	0.327983	0.34484	N	0.003925	D	0.89255	0.6663	M	0.92604	3.325	0.24671	N	0.993419	D;P	0.52996	0.957;0.911	P;P	0.59171	0.853;0.853	T	0.82386	-0.0483	10	0.46703	T	0.11	-11.6664	12.2542	0.54615	0.1221:0.5234:0.3545:0.0	.	354;358	F5H2M8;Q9BZV2	.;S19A3_HUMAN	D	358;354	ENSP00000258403:G358D;ENSP00000445519:G354D	ENSP00000258403:G358D	G	-	2	0	SLC19A3	228268948	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.357000	0.07651	0.683000	0.31428	-0.150000	0.13652	GGT		0.468	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			29	86	0	0	0	0	29	86				
PAK7	57144	broad.mit.edu	37	20	9561116	9561116	+	Silent	SNP	G	G	A	rs267606070		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:9561116G>A	ENST00000378429.3	-	5	1212	c.666C>T	c.(664-666)gcC>gcT	p.A222A	PAK7_ENST00000378423.1_Silent_p.A222A|PAK7_ENST00000353224.5_Silent_p.A222A|RP5-986I17.2_ENST00000428769.1_RNA	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	222	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGCTACTCGAGGCTCTCTGAT	0.488																																						uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(664-666)GCC>GCT		p21-activated kinase 7							75.0	73.0	74.0					20																	9561116		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561116G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.666C>T	20.37:g.9561116G>A						PAK7_uc002wnk.2_Silent_p.A222A|PAK7_uc002wnj.2_Silent_p.A222A|PAK7_uc010gby.1_Silent_p.A222A	p.A222A	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1211	-			222			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.666C>T	CCDS13107.1																																																																																				0.488	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			15	35	0	0	0	0	15	35				
RALGAPA2	57186	broad.mit.edu	37	20	20616166	20616166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:20616166C>T	ENST00000202677.7	-	9	908	c.901G>A	c.(901-903)Gtt>Att	p.V301I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	301					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATAAAAACAACACGAGCTGCC	0.358																																						uc002wrz.2		NA																	0				ovary(1)	1						c.(901-903)GTT>ATT		akt substrate AS250							145.0	143.0	144.0					20																	20616166		1841	4085	5926	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20616166C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.901G>A	20.37:g.20616166C>T	ENSP00000202677:p.Val301Ile					RALGAPA2_uc010gcx.2_Missense_Mutation_p.V5I|RALGAPA2_uc010zsg.1_5'UTR	p.V301I	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			9	1044	-			301					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.901G>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.526847|5.526847	0.96431|0.96431	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000432524|ENST00000202677;ENST00000424981;ENST00000424490	.|T;T	.|0.78595	.|-1.19;-1.19	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.109052	.|0.64402	.|D	.|0.000008	D|D	0.88610|0.88610	0.6483|0.6483	M|M	0.80982|0.80982	2.52|2.52	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.66196	.|0.942	D|D	0.89423|0.89423	0.3711|0.3711	5|10	.|0.72032	.|D	.|0.01	.|.	19.6557|19.6557	0.95837|0.95837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|301	.|Q2PPJ7	.|RGPA2_HUMAN	Y|I	152|301;153;153	.|ENSP00000202677:V301I;ENSP00000400901:V153I	.|ENSP00000202677:V301I	C|V	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20564166|20564166	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.996000|0.996000	0.88848|0.88848	7.386000|7.386000	0.79775|0.79775	2.643000|2.643000	0.89663|0.89663	0.557000|0.557000	0.71058|0.71058	TGT|GTT		0.358	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		6	121	0	0	0	0	6	121				
NECAB3	63941	broad.mit.edu	37	20	32247476	32247476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:32247476C>T	ENST00000246190.6	-	8	761	c.706G>A	c.(706-708)Gac>Aac	p.D236N	NECAB3_ENST00000375238.4_Missense_Mutation_p.D236N|NECAB3_ENST00000606525.1_5'UTR|RP1-63M2.6_ENST00000607224.1_RNA|C20orf144_ENST00000375222.3_5'Flank	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	236					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						TCGAGCTGGTCGATGAGCTCC	0.706																																						uc002wzn.3		NA																	0				lung(1)	1						c.(706-708)GAC>AAC		N-terminal EF-hand calcium binding protein 3							11.0	14.0	13.0					20																	32247476		1957	4145	6102	SO:0001583	missense	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32247476C>T	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.706G>A	20.37:g.32247476C>T	ENSP00000246190:p.Asp236Asn					NECAB3_uc002wzl.2_Missense_Mutation_p.D15N|NECAB3_uc002wzm.3_Missense_Mutation_p.D236N|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Missense_Mutation_p.D187N|NECAB3_uc002wzq.3_Missense_Mutation_p.D236N|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Missense_Mutation_p.D236N|C20orf144_uc002wzs.1_5'Flank	p.D236N	NM_031232	NP_112509	Q96P71	NECA3_HUMAN			8	812	-			236					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	ENST00000246190.6	37	c.706G>A	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851982	0.71719	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	T;T;T	0.34072	1.86;1.82;1.38	5.1	4.15	0.48705	.	0.119112	0.56097	N	0.000036	T	0.58750	0.2144	M	0.78456	2.415	0.53005	D	0.999962	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.992;0.996	T	0.61734	-0.7002	10	0.59425	D	0.04	-9.7304	11.28	0.49188	0.0:0.91:0.0:0.09	.	113;236;236	E1P5N3;Q96P71;Q96P71-2	.;NECA3_HUMAN;.	N	236	ENSP00000364386:D236N;ENSP00000246190:D236N;ENSP00000392064:D236N	ENSP00000246190:D236N	D	-	1	0	NECAB3	31711137	0.992000	0.36948	0.938000	0.37757	0.680000	0.39746	3.106000	0.50322	1.138000	0.42230	0.462000	0.41574	GAC		0.706	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			4	9	0	0	0	0	4	9				
CEP250	11190	broad.mit.edu	37	20	34078580	34078580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:34078580C>T	ENST00000397527.1	+	21	3424	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	902	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGGCCATCCAGGCCCAGAG	0.557																																						uc002xcm.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2704-2706)CAG>TAG		centrosomal protein 2							119.0	104.0	109.0					20																	34078580		2203	4300	6503	SO:0001587	stop_gained	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34078580C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2704C>T	20.37:g.34078580C>T	ENSP00000380661:p.Gln902*					CEP250_uc010zve.1_Nonsense_Mutation_p.Q270*	p.Q902*	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		22	3375	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		902			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	ENST00000397527.1	37	c.2704C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	44	10.604332	0.99436	.	.	ENSG00000126001	ENST00000397527	.	.	.	4.47	4.47	0.54385	.	0.685577	0.13376	N	0.392536	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8225	0.57700	0.0:1.0:0.0:0.0	.	.	.	.	X	902	.	ENSP00000380661:Q902X	Q	+	1	0	CEP250	33541994	0.052000	0.20516	0.008000	0.14137	0.092000	0.18411	3.486000	0.53215	2.503000	0.84419	0.555000	0.69702	CAG		0.557	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		9	77	0	0	0	0	9	77				
KIAA1755	85449	broad.mit.edu	37	20	36869729	36869729	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:36869729G>A	ENST00000279024.4	-	3	1075	c.804C>T	c.(802-804)agC>agT	p.S268S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	268										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CGAAGTCCTGGCTGACCACCT	0.572																																						uc002xhy.1		NA																	0				ovary(4)|pancreas(1)	5						c.(802-804)AGC>AGT		hypothetical protein LOC85449							131.0	119.0	123.0					20																	36869729		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36869729G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.804C>T	20.37:g.36869729G>A						KIAA1755_uc002xhz.1_Silent_p.S268S	p.S268S	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			3	1076	-		Myeloproliferative disorder(115;0.00874)	268					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.804C>T	CCDS33467.1																																																																																				0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		11	75	0	0	0	0	11	75				
JPH2	57158	broad.mit.edu	37	20	42815270	42815270	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:42815270G>T	ENST00000372980.3	-	1	948	c.76C>A	c.(76-78)Cat>Aat	p.H26N	JPH2_ENST00000342272.3_Missense_Mutation_p.H26N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	26	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CACAGTCCATGCCCATGGGCC	0.622																																						uc002xli.1		NA																	0					0						c.(76-78)CAT>AAT		junctophilin 2 isoform 1							47.0	46.0	47.0					20																	42815270		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42815270G>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.76C>A	20.37:g.42815270G>T	ENSP00000362071:p.His26Asn					JPH2_uc002xlj.2_Missense_Mutation_p.H26N	p.H26N	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	949	-		Myeloproliferative disorder(115;0.0122)	26			MORN 1.|Gly-rich.|Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.76C>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	18.21	3.573156	0.65765	.	.	ENSG00000149596	ENST00000372980;ENST00000342272	T;T	0.55234	0.53;0.53	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.63169	1.94	0.80722	D	1	P;D	0.76494	0.674;0.999	P;D	0.80764	0.568;0.994	T	0.68584	-0.5370	10	0.34782	T	0.22	.	17.4267	0.87528	0.0:0.0:1.0:0.0	.	26;26	Q9BR39-2;Q9BR39	.;JPH2_HUMAN	N	26	ENSP00000362071:H26N;ENSP00000344590:H26N	ENSP00000344590:H26N	H	-	1	0	JPH2	42248684	1.000000	0.71417	0.440000	0.26846	0.740000	0.42216	9.372000	0.97165	2.100000	0.63781	0.556000	0.70494	CAT		0.622	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			8	43	1	0	2.18e-05	6.49e-05	8	43				
KRTAP19-7	337974	broad.mit.edu	37	21	31933565	31933565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr21:31933565C>T	ENST00000334849.2	-	1	68	c.44G>A	c.(43-45)tGt>tAt	p.C15Y		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	15						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						GAATCCTCCACAGCCGTAGCC	0.552																																						uc011adb.1		NA																	0					0						c.(43-45)TGT>TAT		keratin associated protein 19-7							131.0	115.0	120.0					21																	31933565		2203	4300	6503	SO:0001583	missense	337974					intermediate filament		g.chr21:31933565C>T	AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"""Keratin associated proteins"""	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.44G>A	21.37:g.31933565C>T	ENSP00000334696:p.Cys15Tyr						p.C15Y	NM_181614	NP_853645	Q3SYF9	KR197_HUMAN			1	44	-			15					Q08EP7	Missense_Mutation	SNP	ENST00000334849.2	37	c.44G>A	CCDS13599.1	.	.	.	.	.	.	.	.	.	.	c	0.092	-1.165832	0.01673	.	.	ENSG00000244362	ENST00000334849	T	0.09073	3.02	3.62	-7.24	0.01475	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41893	-0.9483	8	0.87932	D	0	.	4.6685	0.12676	0.4057:0.3837:0.0:0.2105	.	15	Q3SYF9	KR197_HUMAN	Y	15	ENSP00000334696:C15Y	ENSP00000334696:C15Y	C	-	2	0	KRTAP19-7	30855436	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.673000	0.01951	-1.856000	0.01161	-0.708000	0.03648	TGT		0.552	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2			23	75	0	0	0	0	23	75				
KRTAP10-4	386672	broad.mit.edu	37	21	45993766	45993766	+	Missense_Mutation	SNP	C	C	A	rs371402039		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr21:45993766C>A	ENST00000400374.3	+	1	161	c.131C>A	c.(130-132)cCc>cAc	p.P44H	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	44	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						TGCTGCGCCCCCAGCTGCTGC	0.711																																						uc002zfk.1		NA																	0					0						c.(130-132)CCC>CAC		keratin associated protein 10-4							21.0	26.0	25.0					21																	45993766		1903	4093	5996	SO:0001583	missense	386672					keratin filament		g.chr21:45993766C>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.131C>A	21.37:g.45993766C>A	ENSP00000383225:p.Pro44His					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P44H	NM_198687	NP_941960	P60372	KR104_HUMAN			1	161	+			44			2.|36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.131C>A	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	15.12	2.738626	0.49045	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.09817	2.94	4.52	4.52	0.55395	.	.	.	.	.	T	0.39682	0.1087	M	0.88704	2.975	0.33988	D	0.64883	D	0.89917	1.0	D	0.87578	0.998	T	0.61955	-0.6956	9	0.87932	D	0	.	15.0602	0.71947	0.0:1.0:0.0:0.0	.	44	P60372	KR104_HUMAN	H	44;33	ENSP00000383225:P44H	ENSP00000333987:P33H	P	+	2	0	KRTAP10-4	44818194	0.464000	0.25807	1.000000	0.80357	0.064000	0.16182	0.942000	0.29017	2.204000	0.70986	0.471000	0.43371	CCC		0.711	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		15	27	1	0	3.88e-16	1.27e-15	15	27				
CECR2	27443	broad.mit.edu	37	22	18031816	18031816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:18031816C>T	ENST00000400585.2	+	18	4324	c.3886C>T	c.(3886-3888)Ccc>Tcc	p.P1296S	CECR2_ENST00000400573.5_Missense_Mutation_p.P1438S|CECR2_ENST00000262608.8_Missense_Mutation_p.P1439S			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1480					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCAACACTTCCCCTGGATCA	0.498																																						uc010gqw.1		NA																	0				ovary(1)|skin(1)	2						c.(4312-4314)CCC>TCC		cat eye syndrome chromosome region, candidate 2							58.0	60.0	59.0					22																	18031816		2011	4174	6185	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18031816C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3886C>T	22.37:g.18031816C>T	ENSP00000383428:p.Pro1296Ser					CECR2_uc010gqv.1_Missense_Mutation_p.P1296S|CECR2_uc002zml.2_Missense_Mutation_p.P1297S|CECR2_uc002zmo.2_RNA	p.P1438S	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	17	4438	+		all_epithelial(15;0.139)	1480					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.4312C>T		.	.	.	.	.	.	.	.	.	.	C	9.232	1.036010	0.19590	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.36157	1.39;1.38;1.27	4.93	3.85	0.44370	.	0.124208	0.36555	N	0.002526	T	0.37183	0.0994	M	0.69823	2.125	0.42291	D	0.99213	B;B;B	0.29531	0.247;0.247;0.247	B;B;B	0.23716	0.048;0.048;0.048	T	0.41556	-0.9502	10	0.87932	D	0	-9.955	12.4789	0.55831	0.0:0.9119:0.0:0.0881	.	1480;1296;1438	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	S	1296;1438;1439	ENSP00000383428:P1296S;ENSP00000383417:P1438S;ENSP00000262608:P1439S	ENSP00000262608:P1439S	P	+	1	0	CECR2	16411816	1.000000	0.71417	0.991000	0.47740	0.026000	0.11368	3.279000	0.51670	1.309000	0.44985	0.462000	0.41574	CCC		0.498	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		12	32	0	0	0	0	12	32				
PIWIL3	440822	broad.mit.edu	37	22	25131809	25131809	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:25131809G>A	ENST00000332271.5	-	13	1916	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	PIWIL3_ENST00000527701.1_Silent_p.P391P|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.P391P	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	500					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATTAAGTAAGGGTAATTCTC	0.383																																						uc003abd.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1498-1500)CCC>CCT		piwi-like 3							204.0	199.0	201.0					22																	25131809		2203	4300	6503	SO:0001819	synonymous_variant	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25131809G>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1500C>T	22.37:g.25131809G>A						PIWIL3_uc011ajx.1_Silent_p.P391P|PIWIL3_uc011ajy.1_Silent_p.P391P|PIWIL3_uc010gut.1_Silent_p.P500P	p.P500P	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			13	1917	-			500						Silent	SNP	ENST00000332271.5	37	c.1500C>T	CCDS33623.1																																																																																				0.383	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		39	103	0	0	0	0	39	103				
CCDC117	150275	broad.mit.edu	37	22	29169754	29169754	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:29169754A>T	ENST00000249064.4	+	2	403	c.227A>T	c.(226-228)gAg>gTg	p.E76V	CCDC117_ENST00000443309.2_De_novo_Start_OutOfFrame|CCDC117_ENST00000448492.2_Intron|CCDC117_ENST00000421503.2_Missense_Mutation_p.E76V	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	76										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						CGAGAGGAGGAGGAGGATGAT	0.373																																						uc003aeb.2		NA																	0				breast(1)	1						c.(226-228)GAG>GTG		coiled-coil domain containing 117							289.0	254.0	266.0					22																	29169754		2203	4300	6503	SO:0001583	missense	150275							g.chr22:29169754A>T	AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.227A>T	22.37:g.29169754A>T	ENSP00000249064:p.Glu76Val					CCDC117_uc011aki.1_Intron|CCDC117_uc011akj.1_Missense_Mutation_p.E76V|CCDC117_uc011akk.1_5'UTR	p.E76V	NM_173510	NP_775781	Q8IWD4	CC117_HUMAN			2	403	+			76					A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	ENST00000249064.4	37	c.227A>T	CCDS13846.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056827	0.76074	.	.	ENSG00000159873	ENST00000249064;ENST00000421503	T;T	0.15834	2.39;2.39	5.24	3.0	0.34707	.	0.384575	0.26136	N	0.026133	T	0.14614	0.0353	L	0.32530	0.975	0.80722	D	1	B;B	0.26809	0.069;0.16	B;B	0.30029	0.11;0.11	T	0.05500	-1.0881	10	0.72032	D	0.01	.	11.0194	0.47709	0.7846:0.2154:0.0:0.0	.	76;76	B7Z2V1;Q8IWD4	.;CC117_HUMAN	V	76	ENSP00000249064:E76V;ENSP00000387827:E76V	ENSP00000249064:E76V	E	+	2	0	CCDC117	27499754	1.000000	0.71417	0.959000	0.39883	0.983000	0.72400	2.172000	0.42463	0.375000	0.24679	0.459000	0.35465	GAG		0.373	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321258.1	NM_173510		9	11	0	0	0	0	9	11				
SYNGR1	9145	broad.mit.edu	37	22	39772188	39772188	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:39772188T>G	ENST00000328933.5	+	3	484	c.469T>G	c.(469-471)Tcc>Gcc	p.S157A	SYNGR1_ENST00000381535.4_Missense_Mutation_p.S158A|SYNGR1_ENST00000318801.4_Missense_Mutation_p.S157A|SYNGR1_ENST00000406293.3_Missense_Mutation_p.S157A	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	157	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CTCCTTTTTCTCCATCTTCAC	0.637																																						uc003axr.2		NA																	0				breast(1)	1						c.(247-249)TCC>GCC		mitogen-activated protein kinase kinase kinase 7							99.0	107.0	104.0					22																	39772188		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK 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	catalytic activity|protein binding	g.chr22:39772188T>G	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.469T>G	22.37:g.39772188T>G	ENSP00000332287:p.Ser157Ala					SYNGR1_uc003axo.3_Missense_Mutation_p.S157A|SYNGR1_uc003axp.3_Missense_Mutation_p.L123R|SYNGR1_uc003axq.3_Missense_Mutation_p.S157A|SYNGR1_uc003axs.3_Missense_Mutation_p.S158A	p.S83A	NM_006116	NP_006107	Q15750	TAB1_HUMAN			2	2029	+			7					A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	ENST00000328933.5	37	c.247T>G	CCDS13989.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622312	0.87460	.	.	ENSG00000100321	ENST00000318801;ENST00000406293;ENST00000328933;ENST00000381535	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.21	4.18	0.49190	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.92077	3.27	0.58432	D	0.999999	D;P;D;D	0.69078	0.997;0.824;0.996;0.997	D;B;D;D	0.80764	0.994;0.3;0.936;0.993	T	0.64381	-0.6421	10	0.59425	D	0.04	.	10.8901	0.46990	0.0:0.0739:0.0:0.9261	.	158;151;157;157	O43759-3;Q59FT7;O43759;O43759-2	.;.;SNG1_HUMAN;.	A	157;157;157;158	ENSP00000318845:S157A;ENSP00000385447:S157A;ENSP00000332287:S157A;ENSP00000370946:S158A	ENSP00000318845:S157A	S	+	1	0	SYNGR1	38102134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	0.933000	0.37291	0.454000	0.30748	TCC		0.637	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		35	51	0	0	0	0	35	51				
CERK	64781	broad.mit.edu	37	22	47103761	47103761	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:47103761G>A	ENST00000216264.8	-	6	806	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	CERK_ENST00000541677.1_Missense_Mutation_p.R34W	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	232	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTCCAATCCGGAGGCTACTG	0.602																																						uc003bia.2		NA																	0				skin(1)	1						c.(694-696)CGG>TGG		ceramide kinase							88.0	96.0	93.0					22																	47103761		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47103761G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.694C>T	22.37:g.47103761G>A	ENSP00000216264:p.Arg232Trp					CERK_uc010hae.2_Missense_Mutation_p.R34W	p.R232W	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	6	801	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	232			DAGKc.		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.694C>T	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584448	0.46110	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.14266	2.52;2.52	5.01	-9.86	0.00473	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	M	0.90922	3.16	0.41100	D	0.98566	D	0.89917	1.0	D	0.76071	0.987	T	0.71272	-0.4642	10	0.72032	D	0.01	-33.8038	18.7241	0.91708	0.0:0.0:0.1476:0.8524	.	232	Q8TCT0	CERK1_HUMAN	W	232;34	ENSP00000216264:R232W;ENSP00000438659:R34W	ENSP00000216264:R232W	R	-	1	2	CERK	45482425	0.150000	0.22732	0.000000	0.03702	0.038000	0.13279	0.346000	0.19997	-1.127000	0.02925	-0.181000	0.13052	CGG		0.602	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		16	109	0	0	0	0	16	109				
MAPK11	5600	broad.mit.edu	37	22	50705870	50705870	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:50705870A>T	ENST00000330651.6	-	4	447	c.347T>A	c.(346-348)aTc>aAc	p.I116N	MAPK11_ENST00000449719.2_Missense_Mutation_p.I8N|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|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)	Regorafenib(DB08896)	GCACTTGACGATGTTGTTCAG	0.682																																					GBM(9;634 739 50668)	uc003bkr.2		NA																	0				lung(1)|breast(1)	2						c.(346-348)ATC>AAC		mitogen-activated protein kinase 11							24.0	27.0	26.0					22																	50705870		2189	4289	6478	SO:0001583	missense	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK 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|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50705870A>T	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.347T>A	22.37:g.50705870A>T	ENSP00000333685:p.Ile116Asn					MAPK11_uc010hax.2_5'UTR|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_Missense_Mutation_p.H96Q|MAPK11_uc010haz.2_Missense_Mutation_p.I8N	p.I116N	NM_002751	NP_002742	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	405	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	116			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	c.347T>A	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	a	17.28	3.349510	0.61183	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.67345	-0.26;-0.26	5.06	4.02	0.46733	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);	0.000000	0.85682	U	0.000000	D	0.84660	0.5521	H	0.94462	3.54	0.80722	D	1	D;P	0.69078	0.997;0.792	D;P	0.75484	0.986;0.835	D	0.85969	0.1475	10	0.87932	D	0	-15.7829	9.6785	0.40056	0.9152:0.0:0.0848:0.0	.	8;116	B7Z630;Q15759	.;MK11_HUMAN	N	116;8	ENSP00000333685:I116N;ENSP00000406921:I8N	ENSP00000333685:I116N	I	-	2	0	MAPK11	49047997	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	5.715000	0.68430	0.785000	0.33685	0.449000	0.29647	ATC		0.682	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			9	12	0	0	0	0	9	12				
ZNF385D	79750	broad.mit.edu	37	3	21706434	21706434	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:21706434G>T	ENST00000281523.2	-	2	627	c.109C>A	c.(109-111)Ctt>Att	p.L37I	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	37						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAAAGGGAAGAAATGGTTTA	0.512																																						uc003cce.2		NA																	0				large_intestine(2)|skin(2)|ovary(1)	5						c.(109-111)CTT>ATT		zinc finger protein 385D							110.0	104.0	106.0					3																	21706434		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21706434G>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.109C>A	3.37:g.21706434G>T	ENSP00000281523:p.Leu37Ile					ZNF385D_uc010hfb.1_Intron	p.L37I	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			2	517	-			37						Missense_Mutation	SNP	ENST00000281523.2	37	c.109C>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698089	0.88830	.	.	ENSG00000151789	ENST00000281523	T	0.45276	0.9	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	T	0.56529	0.1991	L	0.41492	1.28	0.33113	D	0.540818	P	0.46578	0.88	P	0.62184	0.899	T	0.64702	-0.6345	10	0.62326	D	0.03	0.2105	18.4189	0.90582	0.0:0.0:1.0:0.0	.	37	Q9H6B1	Z385D_HUMAN	I	37	ENSP00000281523:L37I	ENSP00000281523:L37I	L	-	1	0	ZNF385D	21681438	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.114000	0.77103	2.604000	0.88044	0.591000	0.81541	CTT		0.512	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		10	23	1	0	2.74e-10	8.69e-10	10	23				
GLB1	2720	broad.mit.edu	37	3	33059966	33059966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:33059966C>T	ENST00000399402.3	-	13	1362	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000307363.5_Missense_Mutation_p.D441N|GLB1_ENST00000307377.8_Missense_Mutation_p.D310N|GLB1_ENST00000445488.2_Missense_Mutation_p.D489N	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	441					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TATGCTCGATCGTGGACTCCA	0.507																																						uc003cfi.1		NA																	0				large_intestine(1)	1	GRCh37	CM064028	GLB1	M		c.(1321-1323)GAT>AAT		galactosidase, beta 1 isoform a preproprotein							156.0	153.0	154.0					3																	33059966		1975	4167	6142	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33059966C>T	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1231G>A	3.37:g.33059966C>T	ENSP00000382333:p.Asp411Asn					GLB1_uc003cfh.1_Missense_Mutation_p.D411N|GLB1_uc003cfj.1_Missense_Mutation_p.D310N|GLB1_uc011axk.1_Missense_Mutation_p.D489N	p.D441N	NM_000404	NP_000395	P16278	BGAL_HUMAN			13	1438	-		Melanoma(143;0.104)	441		D -> N (in GM1G1).			B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.1321G>A	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329556	0.81690	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.98400	0.9468	H	0.97415	4	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.99741	1.1015	10	0.87932	D	0	-26.1881	17.8915	0.88874	0.0:1.0:0.0:0.0	.	441;310;441;489	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	N	411;441;489;310	ENSP00000382333:D411N;ENSP00000306920:D441N;ENSP00000393377:D489N;ENSP00000305920:D310N	ENSP00000306920:D441N	D	-	1	0	GLB1	33034970	1.000000	0.71417	0.803000	0.32268	0.300000	0.27592	6.893000	0.75649	2.514000	0.84764	0.585000	0.79938	GAT		0.507	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		16	70	0	0	0	0	16	70				
ARPP21	10777	broad.mit.edu	37	3	35833960	35833960	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:35833960A>T	ENST00000187397.4	+	19	2575	c.2119A>T	c.(2119-2121)Aac>Tac	p.N707Y	ARPP21_ENST00000337271.5_Missense_Mutation_p.N688Y|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.N688Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.N708Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	707	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CGTGATAAATAACCAACAAGG	0.463																																						uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(2119-2121)AAC>TAC		cyclic AMP-regulated phosphoprotein, 21 kD							158.0	143.0	148.0					3																	35833960		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35833960A>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2119A>T	3.37:g.35833960A>T	ENSP00000187397:p.Asn707Tyr					ARPP21_uc003cga.2_Missense_Mutation_p.N688Y|ARPP21_uc011axy.1_Missense_Mutation_p.N708Y|ARPP21_uc003cgf.2_Missense_Mutation_p.N543Y|ARPP21_uc003cgg.2_Missense_Mutation_p.N230Y	p.N707Y	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			19	2383	+			707			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.2119A>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193813	0.58017	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.71	4.56	0.56223	.	0.573269	0.18527	N	0.138603	T	0.44074	0.1276	L	0.40543	1.245	0.26723	N	0.970739	P;P;B;P	0.52692	0.606;0.955;0.198;0.606	B;P;B;B	0.48089	0.242;0.566;0.113;0.242	T	0.22521	-1.0214	10	0.22109	T	0.4	-1.6253	11.4139	0.49941	0.9297:0.0:0.0703:0.0	.	708;230;707;688	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	Y	708;688;688;707;708	ENSP00000414351:N708Y;ENSP00000337792:N688Y;ENSP00000405276:N688Y;ENSP00000187397:N707Y;ENSP00000412326:N708Y	ENSP00000187397:N707Y	N	+	1	0	ARPP21	35808964	1.000000	0.71417	0.554000	0.28268	0.748000	0.42578	3.530000	0.53539	0.996000	0.38943	0.533000	0.62120	AAC		0.463	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		33	61	0	0	0	0	33	61				
EPM2AIP1	9852	broad.mit.edu	37	3	37033930	37033930	+	Silent	SNP	G	G	A	rs376388178		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:37033930G>A	ENST00000322716.5	-	1	865	c.639C>T	c.(637-639)aaC>aaT	p.N213N	MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	213					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GATGAGTCAGGTTGATTATGG	0.517																																						uc003cgk.2		NA																	0					0						c.(637-639)AAC>AAT		EPM2A interacting protein 1		G		1,4023		0,1,2011	87.0	88.0	88.0		639	3.6	1.0	3		88	1,8353		0,1,4176	no	coding-synonymous	EPM2AIP1	NM_014805.3		0,2,6187	AA,AG,GG		0.012,0.0249,0.0162		213/608	37033930	2,12376	2012	4177	6189	SO:0001819	synonymous_variant	9852					endoplasmic reticulum		g.chr3:37033930G>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.639C>T	3.37:g.37033930G>A						MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.N213N	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN			1	866	-			213					O94866|Q9H3L3	Silent	SNP	ENST00000322716.5	37	c.639C>T	CCDS46790.1																																																																																				0.517	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		6	97	0	0	0	0	6	97				
CTNNB1	1499	broad.mit.edu	37	3	41267196	41267196	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:41267196C>T	ENST00000349496.5	+	6	1060	c.780C>T	c.(778-780)caC>caT	p.H260H	CTNNB1_ENST00000396185.3_Silent_p.H260H|CTNNB1_ENST00000405570.1_Silent_p.H260H|CTNNB1_ENST00000396183.3_Silent_p.H260H|CTNNB1_ENST00000453024.1_Silent_p.H253H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	260					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CAACTCTCCACAACCTTTTAT	0.383		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	0				liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(778-780)CAC>CAT		beta-catenin	Lithium(DB01356)						94.0	100.0	98.0					3																	41267196		2203	4300	6503	SO:0001819	synonymous_variant	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41267196C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.780C>T	3.37:g.41267196C>T						CTNNB1_uc003ckp.2_Silent_p.H260H|CTNNB1_uc003ckq.2_Silent_p.H260H|CTNNB1_uc003ckr.2_Silent_p.H260H|CTNNB1_uc011azf.1_Silent_p.H253H|CTNNB1_uc011azg.1_Silent_p.H188H|uc010hib.1_5'Flank	p.H260H	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	7	936	+			260	H->A: Abolishes or strongly reduces AXIN1 and AXIN2 binding. Strongly reduces phosphorylation and degradation; when associated with A-386 and A-383.		ARM 3.		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	c.780C>T	CCDS2694.1																																																																																				0.383	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		54	37	0	0	0	0	54	37				
CDCP1	64866	broad.mit.edu	37	3	45127378	45127378	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:45127378G>A	ENST00000296129.1	-	9	2397	c.2263C>T	c.(2263-2265)Ctg>Ttg	p.L755L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	755						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTGGCTGCAGGAAGGAGCCG	0.577																																						uc003com.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2263-2265)CTG>TTG		CUB domain-containing protein 1 isoform 1							113.0	110.0	111.0					3																	45127378		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45127378G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2263C>T	3.37:g.45127378G>A							p.L755L	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	9	2398	-			755			Cytoplasmic (Potential).		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.2263C>T	CCDS2727.1																																																																																				0.577	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		71	41	0	0	0	0	71	41				
PBRM1	55193	broad.mit.edu	37	3	52637658	52637658	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:52637658A>G	ENST00000296302.7	-	17	2659	c.2658T>C	c.(2656-2658)ctT>ctC	p.L886L	PBRM1_ENST00000409114.3_Silent_p.L901L|PBRM1_ENST00000337303.4_Silent_p.L886L|PBRM1_ENST00000356770.4_Silent_p.L854L|PBRM1_ENST00000410007.1_Silent_p.L886L|PBRM1_ENST00000409767.1_Silent_p.L901L|PBRM1_ENST00000409057.1_Silent_p.L886L|PBRM1_ENST00000394830.3_Silent_p.L886L			Q86U86	PB1_HUMAN	polybromo 1	886					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCGGTGAAAGAAGAATCTCTC	0.343			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NA		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(2656-2658)CTT>CTC		polybromo 1 isoform 4							79.0	75.0	76.0					3																	52637658		2203	4299	6502	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52637658A>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2658T>C	3.37:g.52637658A>G						PBRM1_uc003dex.2_Intron|PBRM1_uc003deq.2_Silent_p.L886L|PBRM1_uc003der.2_Silent_p.L854L|PBRM1_uc003det.2_Silent_p.L901L|PBRM1_uc003deu.2_Silent_p.L901L|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.L886L|PBRM1_uc010hmk.1_Silent_p.L886L|PBRM1_uc003dey.2_Silent_p.L886L|PBRM1_uc003dez.1_Silent_p.L886L|PBRM1_uc003dfb.1_Silent_p.L799L|PBRM1_uc003dfa.1_Silent_p.L232L	p.L886L	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	17	2670	-			886					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.2658T>C																																																																																					0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		9	29	0	0	0	0	9	29				
NXPE3	91775	broad.mit.edu	37	3	101535734	101535734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:101535734C>T	ENST00000491511.2	+	7	1974	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	NXPE3_ENST00000422132.1_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000477909.1_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000273347.5_Nonsense_Mutation_p.Q340*	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	340						extracellular region (GO:0005576)											TAAGATGCGTCAGTTTAATGA	0.393																																						uc003dvn.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1018-1020)CAG>TAG		hypothetical protein LOC91775 precursor							142.0	139.0	140.0					3																	101535734		2203	4300	6503	SO:0001587	stop_gained	91775					extracellular region		g.chr3:101535734C>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1018C>T	3.37:g.101535734C>T	ENSP00000417485:p.Gln340*					FAM55C_uc010hpn.2_Nonsense_Mutation_p.Q340*	p.Q340*	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			7	1655	+			340					A8K0X4|D3DN53|Q7Z2S8	Nonsense_Mutation	SNP	ENST00000491511.2	37	c.1018C>T	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	46	12.144701	0.99640	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	.	.	.	5.71	5.71	0.89125	.	0.205125	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.5368	16.4748	0.84129	0.1316:0.8684:0.0:0.0	.	.	.	.	X	340	.	ENSP00000273347:Q340X	Q	+	1	0	FAM55C	103018424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.022000	0.70839	2.861000	0.98227	0.650000	0.86243	CAG		0.393	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		7	92	0	0	0	0	7	92				
DZIP3	9666	broad.mit.edu	37	3	108353773	108353773	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:108353773G>T	ENST00000361582.3	+	10	1102	c.872G>T	c.(871-873)tGc>tTc	p.C291F	DZIP3_ENST00000463306.1_Missense_Mutation_p.C291F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	291					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CATAAAATTTGCTGGAAAAAG	0.313																																						uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(871-873)TGC>TTC		DAZ interacting protein 3, zinc finger							70.0	75.0	74.0					3																	108353773		2201	4295	6496	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108353773G>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.872G>T	3.37:g.108353773G>T	ENSP00000355028:p.Cys291Phe					DZIP3_uc003dxf.1_Missense_Mutation_p.C291F|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.C291F|DZIP3_uc003dxg.1_Missense_Mutation_p.C14F	p.C291F	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			10	1294	+			291					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.872G>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	g	16.99	3.274390	0.59649	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.40756	1.02;1.02;1.02	5.08	5.08	0.68730	.	0.000000	0.56097	D	0.000024	T	0.49201	0.1543	N	0.19112	0.55	0.41908	D	0.990454	D;P	0.76494	0.999;0.481	D;B	0.83275	0.996;0.355	T	0.54057	-0.8350	10	0.87932	D	0	-9.4169	13.8419	0.63444	0.0:0.0:1.0:0.0	.	291;291	C9J9M8;Q86Y13	.;DZIP3_HUMAN	F	291	ENSP00000355028:C291F;ENSP00000418115:C291F;ENSP00000419981:C291F	ENSP00000355028:C291F	C	+	2	0	DZIP3	109836463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	TGC		0.313	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		17	60	1	0	3.52e-12	1.13e-11	17	60				
PLXND1	23129	broad.mit.edu	37	3	129303021	129303021	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:129303021G>A	ENST00000324093.4	-	7	2263	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A	PLXND1_ENST00000393239.1_Silent_p.A695A	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	695					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGTGAAATTGGCCTTGACGA	0.597																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	0				large_intestine(1)	1						c.(2083-2085)GCC>GCT		plexin D1 precursor							114.0	78.0	90.0					3																	129303021		2203	4299	6502	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129303021G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2085C>T	3.37:g.129303021G>A							p.A695A	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			7	2185	-			695			Extracellular (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.2085C>T	CCDS33854.1																																																																																				0.597	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		5	6	0	0	0	0	5	6				
COL6A6	131873	broad.mit.edu	37	3	130380825	130380825	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:130380825G>T	ENST00000358511.6	+	34	6206	c.6175G>T	c.(6175-6177)Gct>Tct	p.A2059S	COL6A6_ENST00000453409.2_Missense_Mutation_p.A2059S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2059	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAATGGAGATGCTTTTATTGG	0.413																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(6175-6177)GCT>TCT		collagen type VI alpha 6 precursor							90.0	88.0	89.0					3																	130380825		1898	4131	6029	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130380825G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6175G>T	3.37:g.130380825G>T	ENSP00000351310:p.Ala2059Ser					COL6A6_uc003eni.3_Missense_Mutation_p.A158S	p.A2059S	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			34	6206	+			2059			VWFA 9.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.6175G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	5.702	0.314105	0.10789	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82433	-1.61;-1.61	6.04	4.23	0.50019	von Willebrand factor, type A (3);	.	.	.	.	T	0.73690	0.3619	L	0.31294	0.92	0.09310	N	1	B;B	0.25312	0.069;0.123	B;B	0.33890	0.049;0.172	T	0.60021	-0.7344	9	0.22109	T	0.4	.	6.4079	0.21674	0.0677:0.241:0.5661:0.1252	.	2059;2059	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	S	2059	ENSP00000351310:A2059S;ENSP00000399236:A2059S	ENSP00000351310:A2059S	A	+	1	0	COL6A6	131863515	0.000000	0.05858	0.109000	0.21407	0.911000	0.54048	-0.339000	0.07832	0.858000	0.35431	0.561000	0.74099	GCT		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		14	42	1	0	3.27e-08	1.02e-07	14	42				
MME	4311	broad.mit.edu	37	3	154834497	154834497	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:154834497C>G	ENST00000460393.1	+	6	604	c.484C>G	c.(484-486)Cca>Gca	p.P162A	MME_ENST00000360490.2_Missense_Mutation_p.P162A|MME_ENST00000462745.1_Missense_Mutation_p.P162A|MME_ENST00000493237.1_Missense_Mutation_p.P162A|MME_ENST00000492661.1_Missense_Mutation_p.P162A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	162					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CAAACTGTTACCAGACATATA	0.363																																						uc010hvr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(484-486)CCA>GCA		membrane metallo-endopeptidase	Candoxatril(DB00616)						63.0	65.0	64.0					3																	154834497		2199	4299	6498	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154834497C>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.484C>G	3.37:g.154834497C>G	ENSP00000418525:p.Pro162Ala					MME_uc003fab.1_Missense_Mutation_p.P162A|MME_uc003fac.1_Missense_Mutation_p.P162A|MME_uc003fad.1_Missense_Mutation_p.P162A|MME_uc003fae.1_Missense_Mutation_p.P162A	p.P162A	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		6	695	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	162			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.484C>G	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099331	0.37048	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.95	4.14	0.48551	Peptidase M13 (1);	0.148203	0.64402	D	0.000009	T	0.61502	0.2352	N	0.16743	0.435	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.42050	-0.9474	10	0.14656	T	0.56	-5.5888	7.0425	0.25029	0.2225:0.6067:0.108:0.0628	.	162	P08473	NEP_HUMAN	A	162	ENSP00000420389:P162A;ENSP00000418525:P162A;ENSP00000420101:P162A;ENSP00000419653:P162A;ENSP00000417079:P162A;ENSP00000353679:P162A	ENSP00000353679:P162A	P	+	1	0	MME	156317191	1.000000	0.71417	0.034000	0.17996	0.615000	0.37417	2.089000	0.41672	1.518000	0.48934	0.655000	0.94253	CCA		0.363	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		7	45	0	0	0	0	7	45				
SI	6476	broad.mit.edu	37	3	164727122	164727122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:164727122G>T	ENST00000264382.3	-	35	4186	c.4124C>A	c.(4123-4125)gCc>gAc	p.A1375D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1375	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)	AATTTCTCTGGCCCACCACTC	0.383										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4123-4125)GCC>GAC		sucrase-isomaltase	Acarbose(DB00284)						90.0	91.0	91.0					3																	164727122		2203	4300	6503	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.chr3:164727122G>T	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.4124C>A	3.37:g.164727122G>T	ENSP00000264382:p.Ala1375Asp	HNSCC(35;0.089)					p.A1375D	NM_001041	NP_001032	P14410	SUIS_HUMAN			35	4186	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1375			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4124C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.266393	0.01433	.	.	ENSG00000090402	ENST00000264382	D	0.91407	-2.84	4.51	1.52	0.23074	Glycoside hydrolase, superfamily (1);	1.351880	0.04409	N	0.365652	D	0.90242	0.6949	M	0.69823	2.125	0.09310	N	1	B	0.27229	0.172	B	0.33121	0.158	T	0.73304	-0.4025	10	0.30854	T	0.27	.	8.1246	0.30990	0.0827:0.0:0.2687:0.6486	.	1375	P14410	SUIS_HUMAN	D	1375	ENSP00000264382:A1375D	ENSP00000264382:A1375D	A	-	2	0	SI	166209816	0.000000	0.05858	0.013000	0.15412	0.059000	0.15707	0.128000	0.15810	0.097000	0.17492	-0.500000	0.04577	GCC		0.383	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		18	57	1	0	1.45e-14	4.73e-14	18	57				
SLC2A2	6514	broad.mit.edu	37	3	170723243	170723243	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:170723243C>T	ENST00000314251.3	-	7	873	c.794G>A	c.(793-795)gGa>gAa	p.G265E	SLC2A2_ENST00000382808.4_Missense_Mutation_p.G146E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	265					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	ATCATCATATCCTCTGAGTCT	0.343																																						uc003fhe.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(793-795)GGA>GAA		solute carrier family 2 (facilitated glucose							90.0	84.0	86.0					3																	170723243		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170723243C>T	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.794G>A	3.37:g.170723243C>T	ENSP00000323568:p.Gly265Glu					SLC2A2_uc003fhf.1_Missense_Mutation_p.G92E|SLC2A2_uc011bpu.1_Missense_Mutation_p.G138E	p.G265E	NM_000340	NP_000331	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		7	1103	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		265			Cytoplasmic (Potential).		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.794G>A	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622622	0.87460	.	.	ENSG00000163581	ENST00000314251;ENST00000382808;ENST00000461867	T;T;T	0.76578	-1.03;-1.03;-1.03	5.67	5.67	0.87782	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92116	0.7501	H	0.96048	3.76	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	D	0.93735	0.7045	10	0.72032	D	0.01	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	265	P11168	GTR2_HUMAN	E	265;146;92	ENSP00000323568:G265E;ENSP00000372258:G146E;ENSP00000418888:G92E	ENSP00000323568:G265E	G	-	2	0	SLC2A2	172205937	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	7.414000	0.80117	2.836000	0.97738	0.655000	0.94253	GGA		0.343	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		26	58	0	0	0	0	26	58				
GHSR	2693	broad.mit.edu	37	3	172165726	172165726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:172165726C>T	ENST00000241256.2	-	1	520	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	GHSR_ENST00000427970.1_Missense_Mutation_p.V160M	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	160					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACCAGCTTCACCCGCCCCTTG	0.652																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.1		NA																	0				lung(3)|ovary(1)|central_nervous_system(1)	5	GRCh37	CM077844	GHSR	M		c.(478-480)GTG>ATG		growth hormone secretagogue receptor isoform 1a							56.0	56.0	56.0					3																	172165726		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165726C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.478G>A	3.37:g.172165726C>T	ENSP00000241256:p.Val160Met					GHSR_uc011bpv.1_Missense_Mutation_p.V160M	p.V160M	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	478	-	Ovarian(172;0.00143)|Breast(254;0.197)		160			Cytoplasmic (Potential).		Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.478G>A	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801426	0.90538	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.39056	1.1;1.1	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72961	0.3526	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78597	-0.2142	10	0.87932	D	0	-21.9123	19.5728	0.95428	0.0:1.0:0.0:0.0	.	160;160	Q92847-2;Q92847	.;GHSR_HUMAN	M	160	ENSP00000241256:V160M;ENSP00000395344:V160M	ENSP00000241256:V160M	V	-	1	0	GHSR	173648420	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.786000	0.85741	2.636000	0.89361	0.455000	0.32223	GTG		0.652	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		6	53	0	0	0	0	6	53				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			17	62	0	0	0	0	17	62				
ATP13A4	84239	broad.mit.edu	37	3	193156328	193156328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:193156328C>G	ENST00000342695.4	-	23	2930	c.2608G>C	c.(2608-2610)Gca>Cca	p.A870P	ATP13A4_ENST00000392443.3_Missense_Mutation_p.A851P	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	870						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCCACAGATGCCTCCTGCTCT	0.443																																						uc003ftd.2		NA																	0				ovary(2)	2						c.(2608-2610)GCA>CCA		ATPase type 13A4							133.0	116.0	122.0					3																	193156328		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193156328C>G	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2608G>C	3.37:g.193156328C>G	ENSP00000339182:p.Ala870Pro					ATP13A4_uc010hzi.2_RNA	p.A870P	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	23	2716	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		870			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.2608G>C	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	35	5.466235	0.96257	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.59364	0.27;0.27	5.87	5.87	0.94306	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87089	0.2171	10	0.87932	D	0	-28.3807	19.1458	0.93467	0.0:1.0:0.0:0.0	.	870	Q4VNC1	AT134_HUMAN	P	851;870	ENSP00000376238:A851P;ENSP00000339182:A870P	ENSP00000339182:A870P	A	-	1	0	ATP13A4	194639022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.433000	0.80362	2.941000	0.99782	0.655000	0.94253	GCA		0.443	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		25	30	0	0	0	0	25	30				
LGI2	55203	broad.mit.edu	37	4	25013978	25013978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:25013978G>A	ENST00000382114.4	-	7	984	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	267						extracellular region (GO:0005576)		p.R267W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATAGCTCCGGAAATTCATT	0.507																																						uc003grf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(799-801)CGG>TGG		leucine-rich repeat LGI family, member 2							164.0	135.0	145.0					4																	25013978		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25013978G>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.799C>T	4.37:g.25013978G>A	ENSP00000371548:p.Arg267Trp						p.R267W	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			7	898	-		Breast(46;0.173)	267			EAR 2.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.799C>T	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146207	0.77888	.	.	ENSG00000153012	ENST00000382114	D	0.82167	-1.58	4.81	3.82	0.43975	.	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88822	0.3299	10	0.87932	D	0	-15.222	10.3291	0.43812	0.0:0.0:0.5597:0.4403	.	267	Q8N0V4	LGI2_HUMAN	W	267	ENSP00000371548:R267W	ENSP00000371548:R267W	R	-	1	2	LGI2	24623076	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.516000	0.60496	2.373000	0.80994	0.555000	0.69702	CGG		0.507	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			7	103	0	0	0	0	7	103				
SULT1B1	27284	broad.mit.edu	37	4	70620403	70620403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:70620403C>A	ENST00000310613.3	-	3	559	c.262G>T	c.(262-264)Gga>Tga	p.G88*		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	88					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTTCTTAATCCAGGGAGAGTC	0.299																																						uc003hen.2		NA																	0					0						c.(262-264)GGA>TGA		sulfotransferase family, cytosolic, 1B, member							90.0	98.0	95.0					4																	70620403		2203	4298	6501	SO:0001587	stop_gained	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70620403C>A	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.262G>T	4.37:g.70620403C>A	ENSP00000308770:p.Gly88*						p.G88*	NM_014465	NP_055280	O43704	ST1B1_HUMAN			3	560	-			88					O15497|Q96FI1|Q9UK34	Nonsense_Mutation	SNP	ENST00000310613.3	37	c.262G>T	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195585	0.78902	.	.	ENSG00000173597	ENST00000310613;ENST00000510821;ENST00000512870	.	.	.	4.9	4.06	0.47325	.	0.363413	0.19507	U	0.112618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	11.1	0.48168	0.0:0.9084:0.0:0.0916	.	.	.	.	X	88;88;69	.	ENSP00000308770:G88X	G	-	1	0	SULT1B1	70654992	0.710000	0.27896	0.582000	0.28627	0.034000	0.12701	2.036000	0.41165	1.217000	0.43442	0.585000	0.79938	GGA		0.299	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		28	70	1	0	9.65e-13	3.13e-12	28	70				
PTPN13	5783	broad.mit.edu	37	4	87703369	87703369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:87703369G>A	ENST00000411767.2	+	37	6041	c.5978G>A	c.(5977-5979)gGg>gAg	p.G1993E	PTPN13_ENST00000511467.1_Missense_Mutation_p.G1998E|PTPN13_ENST00000316707.6_Missense_Mutation_p.G1802E|PTPN13_ENST00000436978.1_Missense_Mutation_p.G1998E|PTPN13_ENST00000427191.2_Missense_Mutation_p.G1974E			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1993					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TACAGTGTGGGGTCTTGCAGC	0.443																																						uc003hpz.2		NA																	0				ovary(4)|breast(1)|kidney(1)	6						c.(5977-5979)GGG>GAG		protein tyrosine phosphatase, non-receptor type							146.0	141.0	143.0					4																	87703369		1931	4122	6053	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87703369G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5978G>A	4.37:g.87703369G>A	ENSP00000407249:p.Gly1993Glu					PTPN13_uc003hpy.2_Missense_Mutation_p.G1998E|PTPN13_uc003hqa.2_Missense_Mutation_p.G1974E|PTPN13_uc003hqb.2_Missense_Mutation_p.G1802E|PTPN13_uc003hqc.1_Missense_Mutation_p.G359E	p.G1993E	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	37	6458	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1993					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.5978G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.286621	0.01387	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.47528	0.84;0.87;0.94;0.84;0.87	4.98	1.12	0.20585	.	0.936177	0.08854	N	0.884055	T	0.15305	0.0369	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.29761	-1.0001	10	0.02654	T	1	.	6.1666	0.20394	0.6942:0.0:0.3058:0.0	.	1802;1974;1993;1998	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	E	1974;1998;1802;1993;1998;1942	ENSP00000408368:G1974E;ENSP00000394794:G1998E;ENSP00000322675:G1802E;ENSP00000407249:G1993E;ENSP00000426626:G1998E	ENSP00000322675:G1802E	G	+	2	0	PTPN13	87922393	0.013000	0.17824	0.003000	0.11579	0.000000	0.00434	1.258000	0.32944	0.458000	0.26988	-0.300000	0.09419	GGG		0.443	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			9	85	0	0	0	0	9	85				
HSPA4L	22824	broad.mit.edu	37	4	128732697	128732697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:128732697C>T	ENST00000296464.4	+	12	1895	c.1484C>T	c.(1483-1485)gCa>gTa	p.A495V	HSPA4L_ENST00000439123.2_Missense_Mutation_p.A526V|HSPA4L_ENST00000508776.1_Missense_Mutation_p.A495V|HSPA4L_ENST00000505726.1_Missense_Mutation_p.A469V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	495					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGGCTAGCGCATCAGTAATT	0.368																																						uc003ifm.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1483-1485)GCA>GTA		heat shock 70kDa protein 4-like							97.0	92.0	94.0					4																	128732697		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128732697C>T	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1484C>T	4.37:g.128732697C>T	ENSP00000296464:p.Ala495Val					HSPA4L_uc010iny.1_Missense_Mutation_p.A454V|HSPA4L_uc011cgr.1_Missense_Mutation_p.A462V	p.A495V	NM_014278	NP_055093	O95757	HS74L_HUMAN			12	1737	+			495					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.1484C>T	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088300	0.94100	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01068	5.38;5.38;5.38;5.38;5.38	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.04182	0.0116	L	0.37561	1.115	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.996;0.996	T	0.59768	-0.7392	10	0.49607	T	0.09	.	17.4607	0.87619	0.0:1.0:0.0:0.0	.	469;495;495	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	V	495;526;495;454;469	ENSP00000422482:A495V;ENSP00000393926:A526V;ENSP00000296464:A495V;ENSP00000427305:A454V;ENSP00000425645:A469V	ENSP00000296464:A495V	A	+	2	0	HSPA4L	128952147	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.036000	0.76524	2.311000	0.77944	0.650000	0.86243	GCA		0.368	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		8	26	0	0	0	0	8	26				
NAA15	80155	broad.mit.edu	37	4	140309172	140309172	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:140309172G>A	ENST00000296543.5	+	20	2858	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E	NAA15_ENST00000398947.1_Silent_p.E844E|NAA15_ENST00000515576.1_Intron	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	845	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GATATGAAGAGGATATGAAGA	0.388																																						uc003ihu.1		NA																	0				ovary(1)|skin(1)	2						c.(2533-2535)GAG>GAA		NMDA receptor regulated 1							98.0	88.0	91.0					4																	140309172		1854	4100	5954	SO:0001819	synonymous_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140309172G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2535G>A	4.37:g.140309172G>A							p.E845E	NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN			20	2791	+			845					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	c.2535G>A	CCDS43270.1																																																																																				0.388	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		13	25	0	0	0	0	13	25				
PDGFC	56034	broad.mit.edu	37	4	157689065	157689065	+	Missense_Mutation	SNP	C	C	T	rs141820181		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:157689065C>T	ENST00000502773.1	-	5	1271	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Missense_Mutation_p.E106K|PDGFC_ENST00000541126.1_Missense_Mutation_p.E98K|PDGFC_ENST00000504672.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	261					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.E261K(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TTTAGTTCTTCCCTTATGGAC	0.438																																						uc003iph.1		NA																	1	Substitution - Missense(1)	p.E261K(1)	skin(1)	ovary(1)|lung(1)|skin(1)	3						c.(781-783)GAA>AAA		platelet-derived growth factor C precursor							188.0	173.0	178.0					4																	157689065		2203	4299	6502	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157689065C>T	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.781G>A	4.37:g.157689065C>T	ENSP00000422464:p.Glu261Lys					PDGFC_uc003ipi.1_Missense_Mutation_p.E98K|PDGFC_uc011cis.1_Missense_Mutation_p.E98K|PDGFC_uc011cir.1_Missense_Mutation_p.E105K	p.E261K	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	5	1272	-	all_hematologic(180;0.24)	Renal(120;0.0458)	261					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.781G>A	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578593	0.96565	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	T;T;T	0.44083	2.41;0.94;0.93	5.35	5.35	0.76521	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.64567	1.98	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.63554	-0.6611	10	0.49607	T	0.09	-15.1184	19.0757	0.93161	0.0:1.0:0.0:0.0	.	106;261	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	K	261;98;106	ENSP00000422464:E261K;ENSP00000442943:E98K;ENSP00000439728:E106K	ENSP00000422464:E261K	E	-	1	0	PDGFC	157908515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.505000	0.84491	0.655000	0.94253	GAA		0.438	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			38	90	0	0	0	0	38	90				
TENM3	55714	broad.mit.edu	37	4	183601503	183601503	+	Splice_Site	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:183601503G>A	ENST00000511685.1	+	9	1762		c.e9+1		TENM3_ENST00000406950.2_Splice_Site|TENM3_ENST00000502950.1_Splice_Site			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3						camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGTTCAAGAGGTATGCAAGTT	0.443																																						uc003ivd.1		NA																	0					0						c.e8+1		odz, odd Oz/ten-m homolog 3							126.0	112.0	117.0					4																	183601503		1852	4102	5954	SO:0001630	splice_region_variant	55714				signal transduction	integral to membrane		g.chr4:183601503G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1639+1G>A	4.37:g.183601503G>A						ODZ3_uc003ive.1_Splice_Site	p.A547_splice	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	8	1676	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)						Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Splice_Site	SNP	ENST00000511685.1	37	c.1639_splice	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576606	0.65878	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODZ3	183838497	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.240000	0.95396	2.861000	0.98227	0.655000	0.94253	.		0.443	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		Intron	8	19	0	0	0	0	8	19				
ING2	3622	broad.mit.edu	37	4	184432021	184432021	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:184432021G>C	ENST00000302327.3	+	2	961	c.759G>C	c.(757-759)tgG>tgC	p.W253C	ING2_ENST00000434682.2_Missense_Mutation_p.W213C	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	253					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.W253C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGGGGAAATGGTATTGCCCAA	0.388																																						uc003ivs.1		NA																	1	Substitution - Missense(1)	p.W253C(1)	ovary(1)	ovary(1)	1						c.(757-759)TGG>TGC		inhibitor of growth family, member 2							82.0	79.0	80.0					4																	184432021		2203	4300	6503	SO:0001583	missense	3622				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	g.chr4:184432021G>C	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.759G>C	4.37:g.184432021G>C	ENSP00000307183:p.Trp253Cys					ING2_uc011ckk.1_Missense_Mutation_p.W213C	p.W253C	NM_001564	NP_001555	Q9H160	ING2_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	888	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	253			PHD-type.		B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	37	c.759G>C	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162239	0.57368	.	.	ENSG00000168556	ENST00000302327;ENST00000434682	D;D	0.92348	-3.02;-3.02	5.45	5.45	0.79879	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.160978	0.64402	D	0.000020	D	0.98333	0.9447	H	0.99830	4.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99285	1.0897	10	0.87932	D	0	-15.2284	19.4782	0.94998	0.0:0.0:1.0:0.0	.	213;253	B6ZDS1;Q9H160	.;ING2_HUMAN	C	253;213	ENSP00000307183:W253C;ENSP00000412586:W213C	ENSP00000307183:W253C	W	+	3	0	ING2	184669015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.838000	0.97847	0.655000	0.94253	TGG		0.388	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564		4	30	0	0	0	0	4	30				
FAT1	2195	broad.mit.edu	37	4	187557355	187557355	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:187557355G>C	ENST00000441802.2	-	6	4216	c.4007C>G	c.(4006-4008)tCa>tGa	p.S1336*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1336	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTGGTTGATGACTTTTGAGG	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(4006-4008)TCA>TGA		FAT tumor suppressor 1 precursor							85.0	81.0	82.0					4																	187557355		1932	4146	6078	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187557355G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4007C>G	4.37:g.187557355G>C	ENSP00000406229:p.Ser1336*	HNSCC(5;0.00058)					p.S1336*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			6	4195	-			1336			Extracellular (Potential).|Cadherin 11.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.4007C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	45	11.662106	0.99588	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.55	4.7	0.59300	.	0.197059	0.45867	D	0.000325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	16.5615	0.84567	0.0:0.1304:0.8695:0.0	.	.	.	.	X	1336	.	ENSP00000260147:S1336X	S	-	2	0	FAT1	187794349	1.000000	0.71417	0.949000	0.38748	0.954000	0.61252	7.418000	0.80167	1.549000	0.49425	0.655000	0.94253	TCA		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	36	0	0	0	0	15	36				
TUBB7P	56604	broad.mit.edu	37	4	190904367	190904367	+	IGR	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:190904367C>G								FRG1 (20008 upstream) : RNA5SP174 (31925 downstream)																							TCATATAGCGCTTCGTTATCT	0.542																																						uc011clg.1		NA																	0					0						c.(613-615)GCG>CCG		tubulin, beta polypeptide 4, member Q							16.0	24.0	21.0					4																	190904367		1930	4062	5992	SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190904367C>G																													4.37:g.190904367C>G							p.A205P	NM_020040	NP_064424	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	4	616	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	206						Missense_Mutation	SNP		37	c.613G>C																																																																																				0	0.542									5	67	0	0	0	0	5	67				
CDH9	1007	broad.mit.edu	37	5	26903930	26903930	+	Missense_Mutation	SNP	G	G	A	rs183180776	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:26903930G>A	ENST00000231021.4	-	6	987	c.815C>T	c.(814-816)aCg>aTg	p.T272M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	272	Cadherin 3. {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)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAATTGATACGTACCTATAAA	0.318													G|||	4	0.000798722	0.0	0.0058	5008	,	,		15449	0.0		0.0	False		,,,				2504	0.0				Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(814-816)ACG>ATG		cadherin 9, type 2 preproprotein		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	89.0	83.0	85.0		815	5.8	1.0	5		85	0,8598		0,0,4299	yes	missense	CDH9	NM_016279.3	81	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	272/790	26903930	2,13002	2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903930G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.815C>T	5.37:g.26903930G>A	ENSP00000231021:p.Thr272Met					CDH9_uc010iug.2_Missense_Mutation_p.T272M	p.T272M	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			6	984	-			272			Cadherin 3.|Extracellular (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.815C>T	CCDS3893.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	G	13.07	2.126028	0.37533	4.54E-4	0.0	ENSG00000113100	ENST00000231021	T	0.38887	1.11	5.77	5.77	0.91146	Cadherin (3);Cadherin-like (1);	0.253267	0.40728	N	0.001026	T	0.27900	0.0687	L	0.45470	1.425	0.36323	D	0.858353	B	0.27594	0.182	B	0.26969	0.075	T	0.26258	-1.0108	9	.	.	.	.	12.2865	0.54795	0.078:0.0:0.922:0.0	.	272	Q9ULB4	CADH9_HUMAN	M	272	ENSP00000231021:T272M	.	T	-	2	0	CDH9	26939687	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	3.780000	0.55386	2.885000	0.99019	0.655000	0.94253	ACG		0.318	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		7	28	0	0	0	0	7	28				
NSA2	10412	broad.mit.edu	37	5	74064792	74064792	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:74064792T>A	ENST00000296802.5	+	2	409	c.40T>A	c.(40-42)Tat>Aat	p.Y14N	GFM2_ENST00000345239.2_5'Flank|GFM2_ENST00000509430.1_5'Flank|GFM2_ENST00000296805.3_5'Flank|GFM2_ENST00000427854.2_5'Flank|NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	14					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						CCGTAAACGCTATGGATACCG	0.328																																						uc003kdk.1		NA																	0				ovary(1)	1						c.(40-42)TAT>AAT		NSA2 ribosome biogenesis homolog							34.0	35.0	35.0					5																	74064792		2202	4299	6501	SO:0001583	missense	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74064792T>A	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.40T>A	5.37:g.74064792T>A	ENSP00000296802:p.Tyr14Asn					GFM2_uc003kdh.1_5'Flank|GFM2_uc003kdi.1_5'Flank|GFM2_uc010izj.1_5'Flank|GFM2_uc010izk.1_5'Flank|GFM2_uc003kdj.1_5'Flank|GFM2_uc010izl.1_5'Flank	p.Y14N	NM_014886	NP_055701	O95478	NSA2_HUMAN			2	123	+			14						Missense_Mutation	SNP	ENST00000296802.5	37	c.40T>A	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504354	0.64410	.	.	ENSG00000164346	ENST00000296802	T	0.29655	1.56	5.74	4.58	0.56647	.	0.054504	0.85682	D	0.000000	T	0.34077	0.0885	L	0.60455	1.87	0.80722	D	1	B	0.26845	0.161	B	0.33339	0.162	T	0.14952	-1.0454	10	0.59425	D	0.04	.	11.9243	0.52810	0.0:0.0679:0.0:0.9321	.	14	O95478	NSA2_HUMAN	N	14	ENSP00000296802:Y14N	ENSP00000296802:Y14N	Y	+	1	0	NSA2	74100548	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.585000	0.53943	1.128000	0.42052	-0.256000	0.11100	TAT		0.328	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		5	9	0	0	0	0	5	9				
LIX1	167410	broad.mit.edu	37	5	96478236	96478236	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:96478236G>A	ENST00000274382.4	-	1	340	c.45C>T	c.(43-45)gtC>gtT	p.V15V	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	15										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TGTGAGGCAAGACTTGGGCAA	0.453																																						uc003kmy.3		NA																	0				ovary(1)	1						c.(43-45)GTC>GTT		limb expression 1							186.0	156.0	166.0					5																	96478236		2203	4300	6503	SO:0001819	synonymous_variant	167410							g.chr5:96478236G>A		CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.45C>T	5.37:g.96478236G>A							p.V15V	NM_153234	NP_694966	Q8N485	LIX1_HUMAN		COAD - Colon adenocarcinoma(37;0.0733)	1	285	-		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)	15					A8K4R9|Q8N7I2	Silent	SNP	ENST00000274382.4	37	c.45C>T	CCDS4088.1																																																																																				0.453	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234		6	55	0	0	0	0	6	55				
PGGT1B	5229	broad.mit.edu	37	5	114588910	114588910	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:114588910C>T	ENST00000419445.1	-	2	203	c.183G>A	c.(181-183)ttG>ttA	p.L61L	PGGT1B_ENST00000379615.3_Silent_p.L61L	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	61					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		CTAAGGAATCCAACATATCCA	0.363																																						uc003kqw.3		NA																	0					0						c.(181-183)TTG>TTA		geranylgeranyltransferase type 1 beta	Pravastatin(DB00175)						121.0	121.0	121.0					5																	114588910		2202	4300	6502	SO:0001819	synonymous_variant	5229				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity	g.chr5:114588910C>T		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.183G>A	5.37:g.114588910C>T						PGGT1B_uc003kqx.3_5'UTR|PGGT1B_uc010jch.2_Silent_p.L61L	p.L61L	NM_005023	NP_005014	P53609	PGTB1_HUMAN		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	2	204	-		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	61					Q5MJP9	Silent	SNP	ENST00000419445.1	37	c.183G>A	CCDS4116.1																																																																																				0.363	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023		11	50	0	0	0	0	11	50				
ZNF608	57507	broad.mit.edu	37	5	123983042	123983042	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:123983042C>A	ENST00000306315.5	-	4	3470	c.3035G>T	c.(3034-3036)gGg>gTg	p.G1012V	ZNF608_ENST00000504926.1_Missense_Mutation_p.G585V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1012							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ACCGACCTGCCCAGGGTGCAT	0.473																																						uc003ktq.1		NA																	0				skin(3)|ovary(2)|lung(1)	6						c.(3034-3036)GGG>GTG		zinc finger protein 608							169.0	166.0	167.0					5																	123983042		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123983042C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3035G>T	5.37:g.123983042C>A	ENSP00000307746:p.Gly1012Val					ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.G1012V|ZNF608_uc003ktt.1_Missense_Mutation_p.G1012V|ZNF608_uc003ktp.1_5'Flank	p.G1012V	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3158	-		all_cancers(142;0.186)|Prostate(80;0.081)	1012					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3035G>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.626015	0.28889	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.51325	0.72;0.71	6.05	5.17	0.71159	.	0.163089	0.56097	D	0.000036	T	0.50990	0.1648	L	0.54323	1.7	0.80722	D	1	P	0.45827	0.867	P	0.44897	0.463	T	0.54702	-0.8254	10	0.54805	T	0.06	-10.4899	17.2948	0.87168	0.0:0.8746:0.1254:0.0	.	1012	Q9ULD9	ZN608_HUMAN	V	585;1012	ENSP00000427657:G585V;ENSP00000307746:G1012V	ENSP00000307746:G1012V	G	-	2	0	ZNF608	124010941	0.984000	0.35163	0.106000	0.21319	0.036000	0.12997	2.499000	0.45372	1.529000	0.49120	0.643000	0.83706	GGG		0.473	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		46	94	1	0	8.21e-20	2.74e-19	46	94				
SLC27A6	28965	broad.mit.edu	37	5	128351596	128351596	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:128351596C>A	ENST00000262462.4	+	5	1998	c.988C>A	c.(988-990)Cat>Aat	p.H330N	SLC27A6_ENST00000395266.1_Missense_Mutation_p.H330N|SLC27A6_ENST00000506176.1_Missense_Mutation_p.H330N			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	330					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGAAAAGGATCATAAGGTGCG	0.308																																						uc003kuy.2		NA																	0					0						c.(988-990)CAT>AAT		solute carrier family 27 (fatty acid							107.0	110.0	109.0					5																	128351596		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128351596C>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.988C>A	5.37:g.128351596C>A	ENSP00000262462:p.His330Asn					SLC27A6_uc003kuz.2_Missense_Mutation_p.H330N	p.H330N	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	6	1384	+		all_cancers(142;0.0483)|Prostate(80;0.055)	330					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.988C>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885414	0.51908	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.49432	2.88;0.78;0.78;0.78	4.03	4.03	0.46877	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.70789	0.3264	M	0.84846	2.72	0.58432	D	0.999997	D	0.65815	0.995	D	0.67382	0.951	T	0.75938	-0.3141	9	.	.	.	-7.1775	17.5651	0.87917	0.0:1.0:0.0:0.0	.	330	Q9Y2P4	S27A6_HUMAN	N	149;330;330;330	ENSP00000421759:H149N;ENSP00000262462:H330N;ENSP00000378684:H330N;ENSP00000421024:H330N	.	H	+	1	0	SLC27A6	128379495	1.000000	0.71417	0.918000	0.36340	0.167000	0.22549	7.082000	0.76851	2.558000	0.86282	0.461000	0.40582	CAT		0.308	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		11	30	1	0	3.86e-05	0.00011387	11	30				
IL4	3565	broad.mit.edu	37	5	132015436	132015436	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:132015436G>A	ENST00000231449.2	+	3	279	c.214G>A	c.(214-216)Gct>Act	p.A72T	IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Missense_Mutation_p.A56T	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	72					B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136)			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CTTCTGCAGGGCTGCGACTGT	0.542																																						uc003kxk.1		NA																	0					0						c.(214-216)GCT>ACT		interleukin 4 isoform 1 precursor							112.0	116.0	115.0					5																	132015436		2203	4300	6503	SO:0001583	missense	3565				B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding	g.chr5:132015436G>A	M23442	CCDS4158.1, CCDS4159.1	5q23-q31	2011-07-14			ENSG00000113520	ENSG00000113520		"""Interleukins and interleukin receptors"""	6014	protein-coding gene	gene with protein product	"""B_cell stimulatory factor 1"", ""lymphocyte stimulatory factor 1"", ""B cell growth factor 1"""	147780				3016727	Standard	NM_000589		Approved	BSF1, IL-4, BCGF1, BCGF-1, MGC79402	uc003kxk.2	P05112	OTTHUMG00000059724	ENST00000231449.2:c.214G>A	5.37:g.132015436G>A	ENSP00000231449:p.Ala72Thr					IL4_uc003kxl.1_Missense_Mutation_p.A56T	p.A72T	NM_000589	NP_000580	P05112	IL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)	3	584	+		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	72					Q14630|Q6NZ77	Missense_Mutation	SNP	ENST00000231449.2	37	c.214G>A	CCDS4158.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013551	0.93346	.	.	ENSG00000113520	ENST00000231449;ENST00000350025	T;T	0.65549	-0.16;-0.16	5.57	5.57	0.84162	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.127761	0.36409	N	0.002618	T	0.78110	0.4232	M	0.73430	2.235	0.41441	D	0.987924	D;D	0.67145	0.996;0.996	D;D	0.70935	0.971;0.971	T	0.80473	-0.1367	10	0.72032	D	0.01	-9.4664	15.0587	0.71936	0.0:0.0:1.0:0.0	.	56;72	Q5FC01;P05112	.;IL4_HUMAN	T	72;56	ENSP00000231449:A72T;ENSP00000325190:A56T	ENSP00000231449:A72T	A	+	1	0	IL4	132043335	0.964000	0.33143	0.992000	0.48379	0.993000	0.82548	2.916000	0.48813	2.638000	0.89438	0.650000	0.86243	GCT		0.542	IL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132786.1	NM_000589		63	124	0	0	0	0	63	124				
PCDHA5	56143	broad.mit.edu	37	5	140202653	140202653	+	Silent	SNP	G	G	A	rs374495677		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140202653G>A	ENST00000529859.1	+	1	1293	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	PCDHA5_ENST00000378126.3_Silent_p.S431S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.S431S|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCGCTGT	0.647																																						uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1291-1293)TCG>TCA		protocadherin alpha 5 isoform 1 precursor		G	,,,,,,	0,4406		0,0,2203	76.0	82.0	80.0		,,,,1293,,1293	-1.1	0.9	5		80	1,8597	1.2+/-3.3	0,1,4298	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	,,,,431/937,,431/817	140202653	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202653G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1293G>A	5.37:g.140202653G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.S431S|PCDHA5_uc003lhj.1_Silent_p.S431S	p.S431S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1293	+			431			Extracellular (Potential).|Cadherin 4.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1293G>A	CCDS54917.1																																																																																				0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		12	150	0	0	0	0	12	150				
PCDHA8	56140	broad.mit.edu	37	5	140222342	140222342	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140222342C>T	ENST00000531613.1	+	1	1436	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A479V|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGTGTCTGCGCGAGACGCG	0.657																																						uc003lhs.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1435-1437)GCG>GTG		protocadherin alpha 8 isoform 1 precursor							43.0	48.0	46.0					5																	140222342		2192	4260	6452	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222342C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1436C>T	5.37:g.140222342C>T	ENSP00000434655:p.Ala479Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A479V	p.A479V	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1436	+			479			Cadherin 5.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1436C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551665	0.65311	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.59364	0.27;0.27	3.72	3.72	0.42706	Cadherin (4);Cadherin-like (1);	0.000000	0.36444	U	0.002584	T	0.80539	0.4642	M	0.91090	3.175	0.45676	D	0.998595	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.86420	0.1754	10	0.87932	D	0	.	15.9202	0.79556	0.0:1.0:0.0:0.0	.	479;479	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	V	479	ENSP00000434655:A479V;ENSP00000367363:A479V	ENSP00000367363:A479V	A	+	2	0	PCDHA8	140202526	1.000000	0.71417	0.072000	0.20136	0.038000	0.13279	5.798000	0.69095	1.790000	0.52503	0.306000	0.20318	GCG		0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		32	18	0	0	0	0	32	18				
PCDHA13	56136	broad.mit.edu	37	5	140262926	140262926	+	Missense_Mutation	SNP	C	C	T	rs144000682		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140262926C>T	ENST00000289272.2	+	1	1073	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P358L	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	358	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTCACTCCCCATCAGAGAA	0.488																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1072-1074)CCC>CTC		protocadherin alpha 13 isoform 1 precursor							103.0	104.0	104.0					5																	140262926		2203	4300	6503	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140262926C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1073C>T	5.37:g.140262926C>T	ENSP00000289272:p.Pro358Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P358L|PCDHA13_uc003lid.2_Missense_Mutation_p.P358L	p.P358L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1073	+			358			Cadherin 4.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1073C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412478	0.62511	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51071	0.72;0.72	5.44	4.55	0.56014	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.70945	0.3282	M	0.85462	2.755	0.46631	D	0.999136	D;D;D	0.71674	0.998;0.989;0.997	D;D;D	0.70016	0.967;0.948;0.936	T	0.77104	-0.2711	9	0.87932	D	0	.	14.9423	0.71003	0.1444:0.8556:0.0:0.0	.	358;358;358	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	358	ENSP00000386821:P358L;ENSP00000289272:P358L	ENSP00000289272:P358L	P	+	2	0	PCDHA13	140243110	0.062000	0.20869	0.027000	0.17364	0.962000	0.63368	2.093000	0.41710	1.231000	0.43661	0.561000	0.74099	CCC		0.488	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		23	57	0	0	0	0	23	57				
PCDHGB1	56104	broad.mit.edu	37	5	140731974	140731974	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140731974G>T	ENST00000523390.1	+	1	2147	c.2147G>T	c.(2146-2148)aGc>aTc	p.S716I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_5'Flank	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	716					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)			CGTTCCTCCAGCCTCGACACT	0.582																																						uc003ljo.1		NA																	0					0						c.(2146-2148)AGC>ATC		protocadherin gamma subfamily B, 1 isoform 1							108.0	114.0	112.0					5																	140731974		2048	4186	6234	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140731974G>T	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.2147G>T	5.37:g.140731974G>T	ENSP00000429273:p.Ser716Ile					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.S716I|PCDHGA4_uc003ljp.1_5'Flank	p.S716I	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2147	+			716			Cytoplasmic (Potential).		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.2147G>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	15.17	2.754838	0.49362	.	.	ENSG00000254221	ENST00000523390	T	0.16196	2.36	5.47	3.28	0.37604	.	.	.	.	.	T	0.32285	0.0824	M	0.78637	2.42	0.09310	N	1	D;P	0.55800	0.973;0.836	P;P	0.55999	0.789;0.62	T	0.09465	-1.0673	9	0.52906	T	0.07	.	6.5964	0.22677	0.1321:0.3337:0.5342:0.0	.	716;716	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	I	716	ENSP00000429273:S716I	ENSP00000429273:S716I	S	+	2	0	PCDHGB1	140712158	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.132000	0.10467	1.416000	0.47057	0.655000	0.94253	AGC		0.582	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		15	147	1	0	1.52e-12	4.91e-12	15	147				
FAM71B	153745	broad.mit.edu	37	5	156590090	156590090	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:156590090C>G	ENST00000302938.4	-	2	1281	c.1186G>C	c.(1186-1188)Gga>Cga	p.G396R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	396						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGAGGGGTCCCACTGCTGGT	0.537																																						uc003lwn.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1186-1188)GGA>CGA		family with sequence similarity 71, member B							64.0	67.0	66.0					5																	156590090		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590090C>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1186G>C	5.37:g.156590090C>G	ENSP00000305596:p.Gly396Arg						p.G396R	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1286	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	396					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1186G>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	9.986	1.229481	0.22542	.	.	ENSG00000170613	ENST00000302938	T	0.18174	2.23	4.26	-1.42	0.08913	.	1.537060	0.04411	N	0.366059	T	0.23330	0.0564	M	0.61703	1.905	0.09310	N	1	P	0.51933	0.949	P	0.48030	0.564	T	0.31724	-0.9933	10	0.42905	T	0.14	1.0691	6.04	0.19728	0.0:0.2601:0.5213:0.2186	.	396	Q8TC56	FA71B_HUMAN	R	396	ENSP00000305596:G396R	ENSP00000305596:G396R	G	-	1	0	FAM71B	156522668	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.120000	0.10660	-0.181000	0.10619	0.561000	0.74099	GGA		0.537	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		25	34	0	0	0	0	25	34				
GABRA6	2559	broad.mit.edu	37	5	161128536	161128536	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:161128536G>A	ENST00000274545.5	+	9	1552	c.1119G>A	c.(1117-1119)agG>agA	p.R373R	GABRA6_ENST00000523217.1_Silent_p.R363R			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	373					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGAAGAAAAGGATCACTTCTC	0.398										TCGA Ovarian(5;0.080)																												uc003lyu.2		NA																	0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1117-1119)AGG>AGA		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						107.0	112.0	110.0					5																	161128536		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128536G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1119G>A	5.37:g.161128536G>A		TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Silent_p.R144R	p.R373R	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1457	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	373			Cytoplasmic (Probable).		A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.1119G>A	CCDS4356.1																																																																																				0.398	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			22	62	0	0	0	0	22	62				
FGFR4	2264	broad.mit.edu	37	5	176517973	176517973	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:176517973G>C	ENST00000292408.4	+	5	716	c.471G>C	c.(469-471)aaG>aaC	p.K157N	FGFR4_ENST00000393648.2_Missense_Mutation_p.K157N|FGFR4_ENST00000393637.1_Missense_Mutation_p.K157N|FGFR4_ENST00000292410.3_Missense_Mutation_p.K157N|FGFR4_ENST00000502906.1_Missense_Mutation_p.K157N	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	157	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|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 tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	GCATGGAGAAGAAACTGCATG	0.612										TSP Lung(9;0.080)																												uc003mfl.2		NA																	0				lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(469-471)AAG>AAC		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						88.0	72.0	77.0					5																	176517973		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176517973G>C	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.471G>C	5.37:g.176517973G>C	ENSP00000292408:p.Lys157Asn	TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Missense_Mutation_p.K157N|FGFR4_uc011dfu.1_Missense_Mutation_p.K157N|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_3'UTR|FGFR4_uc011dfw.1_Missense_Mutation_p.K157N|FGFR4_uc003mfo.2_Missense_Mutation_p.K157N	p.K157N	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	638	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	157			Extracellular (Potential).|Ig-like C2-type 2.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.471G>C	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223662	0.79576	.	.	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T;T	0.72167	1.58;-0.63;1.58;1.58;1.58;1.58	4.74	3.87	0.44632	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76622	0.4013	L	0.41906	1.305	0.51012	D	0.999906	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.999	T	0.76369	-0.2984	10	0.46703	T	0.11	.	12.4733	0.55799	0.0817:0.0:0.9183:0.0	.	157;157;157;157	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	N	157;157;157;157;157;157;269	ENSP00000292408:K157N;ENSP00000424905:K157N;ENSP00000377259:K157N;ENSP00000424960:K157N;ENSP00000292410:K157N;ENSP00000377254:K157N	ENSP00000292408:K157N	K	+	3	2	FGFR4	176450579	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.923000	0.56469	1.230000	0.43646	0.561000	0.74099	AAG		0.612	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			5	48	0	0	0	0	5	48				
NSD1	64324	broad.mit.edu	37	5	176665392	176665392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:176665392C>A	ENST00000439151.2	+	7	4121	c.4076C>A	c.(4075-4077)tCa>tAa	p.S1359*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.S1090*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S1090*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.S1256*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1359					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)			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)		TTGGCTCAGTCAGAACTTGGA	0.542			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(4075-4077)TCA>TAA		nuclear receptor binding SET domain protein 1							98.0	97.0	97.0					5																	176665392		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_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.chr5:176665392C>A	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.4076C>A	5.37:g.176665392C>A	ENSP00000395929:p.Ser1359*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.S1090*|NSD1_uc003mfs.1_Nonsense_Mutation_p.S1256*|NSD1_uc011dfx.1_Nonsense_Mutation_p.S1007*	p.S1359*	NM_022455	NP_071900	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)	7	4214	+	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)	1359					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.4076C>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	41	8.991467	0.99029	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.28	5.28	0.74379	.	0.267348	0.27323	N	0.019882	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2969	0.66318	0.0:1.0:0.0:0.0	.	.	.	.	X	1090;1359;1090;1256	.	ENSP00000343209:S1090X	S	+	2	0	NSD1	176597998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.959000	0.56744	2.756000	0.94617	0.655000	0.94253	TCA		0.542	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		78	34	1	0	1.03e-28	3.48e-28	78	34				
N4BP3	23138	broad.mit.edu	37	5	177548532	177548532	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:177548532G>A	ENST00000274605.5	+	5	1524	c.1165G>A	c.(1165-1167)Gcg>Acg	p.A389T		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	389						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			TGAAGCCCAGGCGGAACTGGC	0.622																																						uc003mik.1		NA																	0					0						c.(1165-1167)GCG>ACG		Nedd4 binding protein 3							97.0	108.0	104.0					5																	177548532		2203	4300	6503	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177548532G>A	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.1165G>A	5.37:g.177548532G>A	ENSP00000274605:p.Ala389Thr					N4BP3_uc003mil.1_Missense_Mutation_p.A58T	p.A389T	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1412	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	389			Potential.		B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.1165G>A	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015677	0.93404	.	.	ENSG00000145911	ENST00000274605	T	0.51574	0.7	5.05	5.05	0.67936	.	0.103551	0.64402	D	0.000004	T	0.55924	0.1951	L	0.36672	1.1	0.58432	D	0.99999	D	0.71674	0.998	D	0.66847	0.947	T	0.47935	-0.9078	10	0.20519	T	0.43	-12.7974	15.9263	0.79618	0.0:0.0:1.0:0.0	.	389	O15049	N4BP3_HUMAN	T	389	ENSP00000274605:A389T	ENSP00000274605:A389T	A	+	1	0	N4BP3	177481138	1.000000	0.71417	0.985000	0.45067	0.960000	0.62799	7.903000	0.87398	2.362000	0.80069	0.561000	0.74099	GCG		0.622	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		47	90	0	0	0	0	47	90				
HIST1H2BG	8339	broad.mit.edu	37	6	26216840	26216840	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:26216840G>C	ENST00000244601.3	-	1	32	c.32C>G	c.(31-33)cCg>cGg	p.P11R	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	11					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				ACCCTTCTTCGGAGCAGGAGC	0.493																																						uc003ngz.2		NA																	0				ovary(1)	1						c.(31-33)CCG>CGG		histone cluster 1, H2bg							110.0	102.0	105.0					6																	26216840		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216840G>C	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.32C>G	6.37:g.26216840G>C	ENSP00000244601:p.Pro11Arg					HIST1H2AE_uc003nha.1_5'Flank	p.P11R	NM_003518	NP_003509	P62807	H2B1C_HUMAN			1	33	-		all_hematologic(11;0.196)	11					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.32C>G	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	15.84	2.952614	0.53293	.	.	ENSG00000187990	ENST00000244601	T	0.22539	1.95	3.9	3.9	0.45041	.	.	.	.	.	T	0.30823	0.0777	.	.	.	0.37057	D	0.897897	.	.	.	.	.	.	T	0.17684	-1.0361	6	0.87932	D	0	.	15.3941	0.74778	0.0:0.0:1.0:0.0	.	.	.	.	R	11	ENSP00000244601:P11R	ENSP00000244601:P11R	P	-	2	0	HIST1H2BG	26324819	1.000000	0.71417	0.104000	0.21259	0.169000	0.22640	9.377000	0.97184	2.163000	0.67991	0.655000	0.94253	CCG		0.493	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		10	113	0	0	0	0	10	113				
PSORS1C1	170679	broad.mit.edu	37	6	31084822	31084822	+	Intron	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:31084822G>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Silent_p.S190S	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GTCCAGGCTGGGAAGGGTTTA	0.557																																						uc003nsm.1		NA																	0				ovary(1)|pancreas(1)	2						c.(568-570)TCC>TCA		corneodesmosin precursor							85.0	92.0	89.0					6																	31084822		2203	4300	6503	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084822G>T	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+2154G>T	6.37:g.31084822G>T						PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	p.S190S	NM_001264	NP_001255	Q15517	CDSN_HUMAN			2	597	-			190			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.570C>A	CCDS34390.1																																																																																				0.557	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		38	36	1	0	3.63e-18	1.2e-17	38	36				
HSP90AB1	3326	broad.mit.edu	37	6	44217289	44217289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:44217289C>T	ENST00000371554.1	+	3	537	c.323C>T	c.(322-324)tCt>tTt	p.S108F	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S108F|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S108F			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	108					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTGCCAAGTCTGGTACTAAA	0.418																																						uc003oxa.1		NA																	0				lung(3)|breast(1)	4						c.(322-324)TCT>TTT		heat shock 90kDa protein 1, beta							81.0	80.0	80.0					6																	44217289		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217289C>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.323C>T	6.37:g.44217289C>T	ENSP00000360609:p.Ser108Phe					HSP90AB1_uc011dvr.1_Missense_Mutation_p.S108F|HSP90AB1_uc003oxb.1_Missense_Mutation_p.S108F|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank	p.S108F	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	407	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		108					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.323C>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721356	0.89205	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	D;D;D	0.82526	-1.62;-1.62;-1.62	4.25	4.25	0.50352	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.64402	U	0.000002	D	0.96278	0.8786	H	0.99993	5.37	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.97110	0.903;1.0	D	0.98834	1.0752	10	0.87932	D	0	-4.4865	17.0507	0.86518	0.0:1.0:0.0:0.0	.	108;108	B4DGL0;P08238	.;HS90B_HUMAN	F	108	ENSP00000360709:S108F;ENSP00000325875:S108F;ENSP00000360609:S108F	ENSP00000325875:S108F	S	+	2	0	HSP90AB1	44325267	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.818000	0.86416	2.112000	0.64535	0.555000	0.69702	TCT		0.418	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		9	59	0	0	0	0	9	59				
TINAG	27283	broad.mit.edu	37	6	54245333	54245333	+	Silent	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:54245333A>T	ENST00000259782.4	+	10	1356	c.1260A>T	c.(1258-1260)acA>acT	p.T420T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	420					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GATGGGGCACACTGAGAGGAG	0.358																																						uc003pcj.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1258-1260)ACA>ACT		tubulointerstitial nephritis antigen							104.0	112.0	109.0					6																	54245333		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54245333A>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1260A>T	6.37:g.54245333A>T						TINAG_uc010jzt.2_RNA	p.T420T	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		10	1406	+	Lung NSC(77;0.0518)		420					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.1260A>T	CCDS4955.1																																																																																				0.358	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		4	11	0	0	0	0	4	11				
LMBRD1	55788	broad.mit.edu	37	6	70428852	70428852	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:70428852G>C	ENST00000370577.3	-	8	987	c.758C>G	c.(757-759)tCa>tGa	p.S253*	LMBRD1_ENST00000370570.1_Nonsense_Mutation_p.S180*	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	253					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTCACTTTTGATTTAATCGT	0.353																																						uc003pfa.2		NA																	0				ovary(1)	1						c.(757-759)TCA>TGA		liver regeneration p-53 related protein							173.0	142.0	152.0					6																	70428852		2203	4300	6503	SO:0001587	stop_gained	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70428852G>C	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.758C>G	6.37:g.70428852G>C	ENSP00000359609:p.Ser253*					LMBRD1_uc003pey.2_Nonsense_Mutation_p.S49*|LMBRD1_uc003pez.2_Nonsense_Mutation_p.S180*|LMBRD1_uc010kal.2_Nonsense_Mutation_p.S180*|LMBRD1_uc003pfb.2_RNA	p.S253*	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			8	873	-			253			Cytoplasmic (Potential).		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Nonsense_Mutation	SNP	ENST00000370577.3	37	c.758C>G	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710790	0.68730	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	.	.	.	5.21	5.21	0.72293	.	0.062950	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-9.5387	18.7413	0.91774	0.0:0.0:1.0:0.0	.	.	.	.	X	253;180	.	ENSP00000359602:S180X	S	-	2	0	LMBRD1	70485573	1.000000	0.71417	0.999000	0.59377	0.129000	0.20672	7.502000	0.81614	2.398000	0.81561	0.467000	0.42956	TCA		0.353	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		5	23	0	0	0	0	5	23				
SENP6	26054	broad.mit.edu	37	6	76344481	76344481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:76344481C>T	ENST00000447266.2	+	5	890	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	SENP6_ENST00000327284.8_Missense_Mutation_p.H138Y|SENP6_ENST00000370014.3_Missense_Mutation_p.H138Y|SENP6_ENST00000370010.2_Missense_Mutation_p.H138Y	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	138					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TAGACGTTTTCATCATGCTCA	0.353																																						uc003pid.3		NA																	0				breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6						c.(412-414)CAT>TAT		SUMO1/sentrin specific peptidase 6 isoform 1							110.0	102.0	105.0					6																	76344481		1875	4119	5994	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76344481C>T		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.412C>T	6.37:g.76344481C>T	ENSP00000402527:p.His138Tyr					SENP6_uc003pie.3_Missense_Mutation_p.H138Y|SENP6_uc003pic.2_Missense_Mutation_p.H138Y|SENP6_uc003pif.1_Missense_Mutation_p.H29Y	p.H138Y	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN			5	1031	+		all_hematologic(105;0.189)	138					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.412C>T	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699743	0.68501	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000483859;ENST00000424947	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.83	5.83	0.93111	.	0.435365	0.26411	N	0.024532	T	0.46249	0.1383	M	0.61703	1.905	0.80722	D	1	P;P;P	0.40376	0.715;0.593;0.715	B;B;B	0.43575	0.309;0.163;0.424	T	0.51116	-0.8746	10	0.72032	D	0.01	-0.7907	19.7221	0.96147	0.0:1.0:0.0:0.0	.	138;138;138	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	Y	138;138;138;138;138;29;28	ENSP00000359027:H138Y;ENSP00000359031:H138Y;ENSP00000321820:H138Y;ENSP00000402527:H138Y;ENSP00000426480:H29Y;ENSP00000391426:H28Y	ENSP00000321820:H138Y	H	+	1	0	SENP6	76401201	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.068000	0.64364	2.775000	0.95449	0.585000	0.79938	CAT		0.353	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		14	32	0	0	0	0	14	32				
MDN1	23195	broad.mit.edu	37	6	90384310	90384310	+	Splice_Site	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:90384310T>C	ENST00000369393.3	-	79	12877		c.e79-2		MDN1_ENST00000428876.1_Splice_Site|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'Flank			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGAGGTTCCTGTACAGAGAA	0.507																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.e79-1		MDN1, midasin homolog							32.0	36.0	35.0					6																	90384310		2117	4128	6245	SO:0001630	splice_region_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90384310T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12762-2A>G	6.37:g.90384310T>C							p.R4254_splice	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	79	12878	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)						O15019|Q5T794	Splice_Site	SNP	ENST00000369393.3	37	c.12762_splice	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219520	0.79464	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0884	0.81073	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MDN1	90441031	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	6.963000	0.76055	2.203000	0.70933	0.533000	0.62120	.		0.507	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		Intron	13	32	0	0	0	0	13	32				
FUT9	10690	broad.mit.edu	37	6	96651512	96651512	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:96651512G>T	ENST00000302103.5	+	3	807	c.481G>T	c.(481-483)Gat>Tat	p.D161Y		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	161					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.D161N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTACCGCCGTGATTCAGATAT	0.453																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(481-483)GAT>TAT		fucosyltransferase 9 (alpha (1,3)							67.0	64.0	65.0					6																	96651512		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651512G>T	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.481G>T	6.37:g.96651512G>T	ENSP00000302599:p.Asp161Tyr						p.D161Y	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	822	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	161			Lumenal (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.481G>T	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298455	0.60195	.	.	ENSG00000172461	ENST00000302103	T	0.36520	1.25	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	H	0.97707	4.06	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.82222	-0.0564	10	0.87932	D	0	-18.3626	18.3049	0.90177	0.0:0.0:1.0:0.0	.	161	Q9Y231	FUT9_HUMAN	Y	161	ENSP00000302599:D161Y	ENSP00000302599:D161Y	D	+	1	0	FUT9	96758233	1.000000	0.71417	0.965000	0.40720	0.772000	0.43724	9.420000	0.97426	2.643000	0.89663	0.655000	0.94253	GAT		0.453	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		19	35	1	0	1.18e-14	3.86e-14	19	35				
FAM184A	79632	broad.mit.edu	37	6	119338093	119338093	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:119338093T>C	ENST00000338891.7	-	5	1792	c.1349A>G	c.(1348-1350)aAg>aGg	p.K450R	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.K330R|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330R|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450R|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330R	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	450						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTGAGTTCTCTTTGCTTCATT	0.333																																						uc003pyj.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(1348-1350)AAG>AGG		hypothetical protein LOC79632 isoform 1							84.0	79.0	81.0					6																	119338093		1803	4066	5869	SO:0001583	missense	79632							g.chr6:119338093T>C	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1349A>G	6.37:g.119338093T>C	ENSP00000342604:p.Lys450Arg					FAM184A_uc003pyk.3_Missense_Mutation_p.K330R|FAM184A_uc003pyl.3_Missense_Mutation_p.K330R	p.K450R	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			5	1697	-			450			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1349A>G	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.91|11.91	1.780215|1.780215	0.31502|0.31502	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.00360|.	7.86;7.86;7.86;7.86;7.86|.	4.94|4.94	3.76|3.76	0.43208|0.43208	.|.	0.154508|.	0.45867|.	D|.	0.000335|.	T|T	0.22589|0.22589	0.0545|0.0545	N|N	0.16656|0.16656	0.425|0.425	0.44908|0.44908	D|D	0.997924|0.997924	B;B;B|.	0.10296|.	0.001;0.003;0.001|.	B;B;B|.	0.12156|.	0.005;0.004;0.007|.	T|T	0.05321|0.05321	-1.0892|-1.0892	10|5	0.09843|.	T|.	0.71|.	-18.0805|-18.0805	7.7618|7.7618	0.28957|0.28957	0.0:0.1941:0.0:0.8059|0.0:0.1941:0.0:0.8059	.|.	450;330;450|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	R|G	450;330;330;450;330|36	ENSP00000342604:K450R;ENSP00000326608:K330R;ENSP00000357460:K330R;ENSP00000430442:K450R;ENSP00000429826:K330R|.	ENSP00000342604:K450R|.	K|R	-|-	2|1	0|2	FAM184A|FAM184A	119379792|119379792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	3.408000|3.408000	0.52651|0.52651	1.876000|1.876000	0.54355|0.54355	0.402000|0.402000	0.26972|0.26972	AAG|AGA		0.333	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		11	35	0	0	0	0	11	35				
KIAA1244	57221	broad.mit.edu	37	6	138566721	138566721	+	Missense_Mutation	SNP	G	G	T	rs557172571	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:138566721G>T	ENST00000251691.4	+	8	824	c.658G>T	c.(658-660)Gcc>Tcc	p.A220S		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCTGCAAGCCGCCATAAAGTA	0.453																																						uc003qhu.2		NA																	0				ovary(1)|skin(1)	2						c.(658-660)GCC>TCC		brefeldin A-inhibited guanine							127.0	102.0	110.0					6																	138566721		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138566721G>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.658G>T	6.37:g.138566721G>T	ENSP00000251691:p.Ala220Ser						p.A220S	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	8	658	+	Breast(32;0.135)		220						Missense_Mutation	SNP	ENST00000251691.4	37	c.658G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843805	0.32606	.	.	ENSG00000112379	ENST00000251691	T	0.18174	2.23	5.45	1.31	0.21738	.	1.029290	0.07692	N	0.938911	T	0.03739	0.0106	L	0.29908	0.895	0.26978	N	0.965421	B	0.02656	0.0	B	0.04013	0.001	T	0.46638	-0.9177	10	0.20046	T	0.44	-18.4502	8.948	0.35771	0.0718:0.0:0.4451:0.4831	.	220	Q5TH69	BIG3_HUMAN	S	220	ENSP00000251691:A220S	ENSP00000251691:A220S	A	+	1	0	KIAA1244	138608414	0.987000	0.35691	0.990000	0.47175	0.980000	0.70556	1.723000	0.38053	-0.065000	0.13021	0.655000	0.94253	GCC		0.453	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		5	14	1	0	1.24e-05	3.71e-05	5	14				
SYNE1	23345	broad.mit.edu	37	6	152462343	152462343	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:152462343G>A	ENST00000367255.5	-	139	25842	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8414					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)	p.T8414M(2)		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)		CTCACCAGCCGTTTGGGTTTC	0.478										HNSCC(10;0.0054)																												uc010kiw.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(25240-25242)ACG>ATG		spectrin repeat containing, nuclear envelope 1							173.0	149.0	157.0					6																	152462343		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.chr6:152462343G>A	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.25241C>T	6.37:g.152462343G>A	ENSP00000356224:p.Thr8414Met	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.T2938M|SYNE1_uc003qos.3_Missense_Mutation_p.T2938M|SYNE1_uc003qot.3_Missense_Mutation_p.T8366M|SYNE1_uc003qou.3_Missense_Mutation_p.T8414M|SYNE1_uc003qop.3_Missense_Mutation_p.T599M|SYNE1_uc011eez.1_Missense_Mutation_p.T616M|SYNE1_uc003qoq.3_Missense_Mutation_p.T616M|SYNE1_uc003qor.3_Missense_Mutation_p.T1337M	p.T8414M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	139	25843	-		Ovarian(120;0.0955)	8414			Cytoplasmic (Potential).		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.25241C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654955	0.47467	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.56611	0.54;4.6;1.45;0.53;0.45;0.53;0.66;2.56;1.61;4.6	5.84	3.13	0.36017	.	0.113562	0.39759	N	0.001275	T	0.57504	0.2058	M	0.70595	2.14	0.40467	D	0.980307	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.918	P;P;D;D;B	0.68621	0.855;0.855;0.959;0.912;0.39	T	0.60193	-0.7311	10	0.48119	T	0.1	.	11.5613	0.50778	0.1857:0.0:0.8143:0.0	.	8414;8414;8366;8366;616	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	M	8414;569;1060;8366;8414;8366;8026;2938;599;594;1359;592	ENSP00000356224:T8414M;ENSP00000441052:T569M;ENSP00000356226:T1060M;ENSP00000396024:T8366M;ENSP00000265368:T8414M;ENSP00000390975:T8366M;ENSP00000341887:T8026M;ENSP00000349276:T2938M;ENSP00000356220:T1359M;ENSP00000346701:T592M	ENSP00000265368:T8414M	T	-	2	0	SYNE1	152504036	1.000000	0.71417	0.886000	0.34754	0.287000	0.27160	3.615000	0.54167	0.391000	0.25143	-1.008000	0.02478	ACG		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	60	0	0	0	0	28	60				
TIAM2	26230	broad.mit.edu	37	6	155458488	155458488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:155458488A>G	ENST00000461783.3	+	7	2645	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V	TIAM2_ENST00000360366.4_Missense_Mutation_p.I458V|TIAM2_ENST00000529824.2_Missense_Mutation_p.I458V|TIAM2_ENST00000318981.5_Missense_Mutation_p.I458V|TIAM2_ENST00000456144.1_Missense_Mutation_p.I458V|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	458					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCGGCAGAACATTTATGAGAA	0.507																																						uc003qqb.2		NA																	0				ovary(3)|breast(1)	4						c.(1372-1374)ATT>GTT		T-cell lymphoma invasion and metastasis 2							103.0	111.0	108.0					6																	155458488		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155458488A>G		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1372A>G	6.37:g.155458488A>G	ENSP00000437188:p.Ile458Val					TIAM2_uc003qqe.2_Missense_Mutation_p.I458V|TIAM2_uc010kjj.2_5'UTR	p.I458V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	7	2645	+		Ovarian(120;0.196)	458					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1372A>G	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746020	0.30955	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.04862	3.67;3.54;3.63;3.67;3.67;3.63	6.08	4.91	0.64330	.	0.051889	0.85682	N	0.000000	T	0.05318	0.0141	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	D	0.75020	0.985	T	0.44081	-0.9351	10	0.10902	T	0.67	.	9.2029	0.37270	0.8616:0.0:0.1384:0.0	.	458	Q8IVF5	TIAM2_HUMAN	V	458;704;458;458;458;458;458	ENSP00000437188:I458V;ENSP00000434901:I458V;ENSP00000407746:I458V;ENSP00000327315:I458V;ENSP00000353528:I458V;ENSP00000433348:I458V	ENSP00000327315:I458V	I	+	1	0	TIAM2	155500180	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	4.872000	0.63050	1.117000	0.41842	0.533000	0.62120	ATT		0.507	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		38	76	0	0	0	0	38	76				
PLG	5340	broad.mit.edu	37	6	161159606	161159606	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:161159606C>T	ENST00000308192.9	+	15	1902	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	613	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCTTGATATCCCCAGAGTGGG	0.403																																						uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(1837-1839)TCC>TCT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						152.0	140.0	144.0					6																	161159606		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161159606C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1839C>T	6.37:g.161159606C>T							p.S613S	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	15	1902	+			613			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.1839C>T	CCDS5279.1																																																																																				0.403	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		30	60	0	0	0	0	30	60				
SDK1	221935	broad.mit.edu	37	7	4185403	4185403	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:4185403C>A	ENST00000404826.2	+	29	4417	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	SDK1_ENST00000389531.3_Silent_p.T1426T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1426	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCTTCACCACCGTGGAGG	0.657																																						uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(4276-4278)ACC>ACA		sidekick 1 precursor							59.0	55.0	56.0					7																	4185403		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4185403C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4278C>A	7.37:g.4185403C>A						SDK1_uc010kso.2_Silent_p.T702T|SDK1_uc003smy.2_5'UTR	p.T1426T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	29	4417	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1426			Fibronectin type-III 8.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4278C>A	CCDS34590.1																																																																																				0.657	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		9	60	1	0	1.77e-08	5.52e-08	9	60				
SCIN	85477	broad.mit.edu	37	7	12675756	12675756	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:12675756T>C	ENST00000297029.5	+	10	1507	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	SCIN_ENST00000519209.1_Missense_Mutation_p.V222A|SCIN_ENST00000445618.2_Missense_Mutation_p.V222A	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	469	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGACAGGCTGTGCAGGTTGGG	0.468																																						uc003ssn.3		NA																	0				ovary(2)	2						c.(1405-1407)GTG>GCG		scinderin isoform 1							75.0	74.0	75.0					7																	12675756		1972	4166	6138	SO:0001583	missense	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12675756T>C	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1406T>C	7.37:g.12675756T>C	ENSP00000297029:p.Val469Ala					SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.V222A	p.V469A	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	10	1616	+			469			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	c.1406T>C	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803611	0.90623	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.56776	0.44;0.44;0.44	5.44	5.44	0.79542	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.86343	2.81	0.80722	D	1	P	0.47191	0.891	P	0.61658	0.892	T	0.79799	-0.1651	10	0.87932	D	0	-17.3925	15.4938	0.75632	0.0:0.0:0.0:1.0	.	469	Q9Y6U3	ADSV_HUMAN	A	469;222;222	ENSP00000297029:V469A;ENSP00000430997:V222A;ENSP00000390189:V222A	ENSP00000297029:V469A	V	+	2	0	SCIN	12642281	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.981000	0.70524	2.054000	0.61138	0.533000	0.62120	GTG		0.468	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		4	8	0	0	0	0	4	8				
ADCYAP1R1	117	broad.mit.edu	37	7	31124410	31124410	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:31124410T>A	ENST00000304166.4	+	8	786	c.497T>A	c.(496-498)gTc>gAc	p.V166D	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V145D|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V166D|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V166D	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	166					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACATCCCTCGTCACCCTCACC	0.557																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1		NA																	0		p.V166fs*25(1)		ovary(1)	1						c.(496-498)GTC>GAC		adenylate cyclase activating polypeptide 1							292.0	215.0	241.0					7																	31124410		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31124410T>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.497T>A	7.37:g.31124410T>A	ENSP00000306620:p.Val166Asp					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.V145D|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.V166D|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.V166D|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.V166D|ADCYAP1R1_uc003tcf.1_5'Flank	p.V166D	NM_001118	NP_001109	P41586	PACR_HUMAN			8	720	+			166			Helical; Name=1; (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.497T>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492594	0.84962	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.52057	1.0;0.97;0.68;0.68	5.8	4.62	0.57501	GPCR, family 2-like (1);	0.064020	0.64402	D	0.000009	T	0.68293	0.2985	M	0.85197	2.74	0.80722	D	1	P;P;P;B;B	0.48503	0.612;0.738;0.911;0.425;0.425	P;P;D;P;P	0.63793	0.698;0.776;0.918;0.629;0.721	T	0.71122	-0.4684	10	0.72032	D	0.01	.	10.2984	0.43637	0.0:0.0786:0.0:0.9214	.	166;166;166;145;166	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	D	166;145;166;166	ENSP00000306620:V166D;ENSP00000387335:V145D;ENSP00000379514:V166D;ENSP00000386395:V166D	ENSP00000306620:V166D	V	+	2	0	ADCYAP1R1	31090935	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	5.100000	0.64560	0.978000	0.38470	0.533000	0.62120	GTC		0.557	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		30	79	0	0	0	0	30	79				
GRB10	2887	broad.mit.edu	37	7	50682481	50682481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:50682481C>A	ENST00000401949.1	-	12	1550	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W	GRB10_ENST00000439599.1_Missense_Mutation_p.G355W|GRB10_ENST00000406641.1_Missense_Mutation_p.G303W|GRB10_ENST00000357271.5_Missense_Mutation_p.G315W|GRB10_ENST00000335866.3_Missense_Mutation_p.G303W|GRB10_ENST00000402497.1_Missense_Mutation_p.G303W|GRB10_ENST00000402578.1_Missense_Mutation_p.G303W|GRB10_ENST00000403097.1_Missense_Mutation_p.G355W|GRB10_ENST00000398810.2_Missense_Mutation_p.G303W|GRB10_ENST00000398812.2_Missense_Mutation_p.G361W|GRB10_ENST00000407526.1_Missense_Mutation_p.G303W			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	361	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|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 phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ATGCAGAGCCCGTGGTCTGTA	0.587									Russell-Silver syndrome																													uc003tpi.2		NA																	0				lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1081-1083)GGG>TGG		growth factor receptor-bound protein 10 isoform							136.0	145.0	142.0					7																	50682481		2116	4223	6339	SO:0001583	missense	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50682481C>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1081G>T	7.37:g.50682481C>A	ENSP00000385770:p.Gly361Trp					GRB10_uc003tph.3_Missense_Mutation_p.G303W|GRB10_uc003tpj.2_Missense_Mutation_p.G315W|GRB10_uc003tpk.2_Missense_Mutation_p.G361W|GRB10_uc010kzb.2_Missense_Mutation_p.G303W|GRB10_uc003tpl.2_Missense_Mutation_p.G355W|GRB10_uc003tpm.2_Missense_Mutation_p.G303W|GRB10_uc003tpn.2_Missense_Mutation_p.G303W	p.G361W	NM_005311	NP_005302	Q13322	GRB10_HUMAN			9	1112	-	Glioma(55;0.08)|all_neural(89;0.245)		361			PH.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1081G>T	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179514	0.78564	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;2.23;-0.97;-0.97;-0.97	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.207952	0.51477	D	0.000095	D	0.87442	0.6178	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.995;1.0	D	0.88524	0.3098	10	0.66056	D	0.02	-29.3453	19.1837	0.93633	0.0:1.0:0.0:0.0	.	355;315;361	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	W	361;355;303;303;303;355;303;315;303;361;303	ENSP00000381793:G361W;ENSP00000406716:G355W;ENSP00000338543:G303W;ENSP00000381790:G303W;ENSP00000385189:G303W;ENSP00000385544:G355W;ENSP00000385366:G303W;ENSP00000349818:G315W;ENSP00000385046:G303W;ENSP00000385770:G361W;ENSP00000385748:G303W	ENSP00000338543:G303W	G	-	1	0	GRB10	50649975	1.000000	0.71417	0.971000	0.41717	0.870000	0.49936	4.917000	0.63369	2.523000	0.85059	0.655000	0.94253	GGG		0.587	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			31	68	1	0	8.17e-17	2.69e-16	31	68				
EGFR	1956	broad.mit.edu	37	7	55220295	55220295	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:55220295A>T	ENST00000275493.2	+	6	862	c.685A>T	c.(685-687)Agt>Tgt	p.S229C	EGFR_ENST00000342916.3_Missense_Mutation_p.S229C|EGFR_ENST00000442591.1_Missense_Mutation_p.S229C|EGFR_ENST00000420316.2_Missense_Mutation_p.S229C|EGFR_ENST00000455089.1_Missense_Mutation_p.S184C|EGFR_ENST00000454757.2_Missense_Mutation_p.S176C|EGFR_ENST00000344576.2_Missense_Mutation_p.S229C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	229			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAAGTCCCCCAGTGACTGCTG	0.617		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(685-687)AGT>TGT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						66.0	76.0	73.0					7																	55220295		2203	4299	6502	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220295A>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.685A>T	7.37:g.55220295A>T	ENSP00000275493:p.Ser229Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.S229C|EGFR_uc003tqi.2_Missense_Mutation_p.S229C|EGFR_uc003tqj.2_Missense_Mutation_p.S229C|EGFR_uc010kzg.1_Missense_Mutation_p.S184C|EGFR_uc011kco.1_Missense_Mutation_p.S176C|EGFR_uc003tql.1_RNA	p.S229C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	931	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		229			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.685A>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802635	0.90623	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.080531	0.85682	D	0.000000	T	0.66237	0.2769	M	0.83223	2.63	0.46823	D	0.999219	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.998;0.997	D;P;D;P;P	0.70935	0.971;0.895;0.96;0.831;0.784	T	0.72020	-0.4416	10	0.72032	D	0.01	.	14.0594	0.64790	1.0:0.0:0.0:0.0	.	184;229;229;229;229	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	184;229;99;229;229;229;229;176;23	ENSP00000415559:S184C;ENSP00000342376:S229C;ENSP00000345973:S229C;ENSP00000413843:S229C;ENSP00000275493:S229C;ENSP00000410031:S229C;ENSP00000395243:S176C	ENSP00000275493:S229C	S	+	1	0	EGFR	55187789	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.250000	0.72435	1.981000	0.57761	0.533000	0.62120	AGT		0.617	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		56	85	0	0	0	0	56	85				
GRM3	2913	broad.mit.edu	37	7	86394583	86394583	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:86394583T>C	ENST00000361669.2	+	2	1221	c.122T>C	c.(121-123)tTa>tCa	p.L41S	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.L39S|GRM3_ENST00000439827.1_Missense_Mutation_p.L41S|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	41					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GACCTTGTTTTAGGGGGCCTG	0.413																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(121-123)TTA>TCA		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						100.0	104.0	103.0					7																	86394583		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394583T>C		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.122T>C	7.37:g.86394583T>C	ENSP00000355316:p.Leu41Ser					GRM3_uc010lef.2_Missense_Mutation_p.L39S|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	p.L41S	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1221	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		41			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.122T>C	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308306	0.81247	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.93452	0.7911	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.909	D	0.94330	0.7561	10	0.87932	D	0	.	14.4674	0.67492	0.0:0.0:0.0:1.0	.	41;41	G5E9K2;Q14832	.;GRM3_HUMAN	S	41;41;39;41;41	ENSP00000355316:L41S;ENSP00000398767:L41S;ENSP00000378209:L39S;ENSP00000390037:L41S;ENSP00000407490:L41S	ENSP00000355316:L41S	L	+	2	0	GRM3	86232519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.861000	0.87004	2.206000	0.71126	0.533000	0.62120	TTA		0.413	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			23	48	0	0	0	0	23	48				
PON2	5445	broad.mit.edu	37	7	95039308	95039308	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:95039308G>A	ENST00000222572.3	-	6	846	c.600C>T	c.(598-600)caC>caT	p.H200H	PON2_ENST00000536183.1_Silent_p.H221H|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Silent_p.H188H			Q15165	PON2_HUMAN	paraoxonase 2	200					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CATTTGCCCAGTGTAAGTTCA	0.373																																					GBM(42;803 823 13649 23368 31463)	uc003unv.2		NA																	0					0						c.(598-600)CAC>CAT		paraoxonase 2 isoform 1							151.0	146.0	148.0					7																	95039308		2203	4300	6503	SO:0001819	synonymous_variant	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95039308G>A	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.600C>T	7.37:g.95039308G>A						PON2_uc003unu.2_Silent_p.H188H|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Silent_p.H113H	p.H200H	NM_000305	NP_000296	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		6	721	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		200					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Silent	SNP	ENST00000222572.3	37	c.600C>T	CCDS5640.1																																																																																				0.373	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		23	54	0	0	0	0	23	54				
TMEM168	64418	broad.mit.edu	37	7	112407741	112407741	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:112407741G>C	ENST00000312814.6	-	5	2165	c.1605C>G	c.(1603-1605)tcC>tcG	p.S535S	TMEM168_ENST00000454074.1_Silent_p.S535S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	535						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGGAACAAAAGGAACCATTCT	0.403																																						uc003vgn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1603-1605)TCC>TCG		transmembrane protein 168							64.0	64.0	64.0					7																	112407741		2203	4300	6503	SO:0001819	synonymous_variant	64418					integral to membrane|transport vesicle		g.chr7:112407741G>C		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1605C>G	7.37:g.112407741G>C						TMEM168_uc010lju.2_Silent_p.S535S|TMEM168_uc011kmr.1_Silent_p.S151S	p.S535S	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN			5	1997	-			535					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Silent	SNP	ENST00000312814.6	37	c.1605C>G	CCDS5757.1																																																																																				0.403	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		17	41	0	0	0	0	17	41				
PPP1R3A	5506	broad.mit.edu	37	7	113518983	113518983	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:113518983T>C	ENST00000284601.3	-	4	2232	c.2164A>G	c.(2164-2166)Act>Gct	p.T722A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	722					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTTCTCAGTAATGCCATGA	0.388																																						uc010ljy.1		NA																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2164-2166)ACT>GCT		protein phosphatase 1, regulatory (inhibitor)							176.0	170.0	172.0					7																	113518983		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518983T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2164A>G	7.37:g.113518983T>C	ENSP00000284601:p.Thr722Ala						p.T722A	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2195	-			722					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2164A>G	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.319893	0.41096	.	.	ENSG00000154415	ENST00000284601	T	0.21361	2.01	6.01	0.802	0.18686	.	0.481828	0.21155	N	0.079251	T	0.18718	0.0449	M	0.66939	2.045	0.25387	N	0.988568	P	0.52316	0.952	B	0.41860	0.368	T	0.19582	-1.0301	10	0.72032	D	0.01	-2.3231	3.0877	0.06283	0.1102:0.1274:0.1287:0.6337	.	722	Q16821	PPR3A_HUMAN	A	722	ENSP00000284601:T722A	ENSP00000284601:T722A	T	-	1	0	PPP1R3A	113306219	1.000000	0.71417	0.903000	0.35520	0.718000	0.41266	1.044000	0.30329	-0.081000	0.12662	-0.297000	0.09499	ACT		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		3	139	0	0	0	0	3	139				
DPP6	1804	broad.mit.edu	37	7	154172062	154172062	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:154172062G>C	ENST00000377770.3	+	3	538	c.397G>C	c.(397-399)Gta>Cta	p.V133L	DPP6_ENST00000332007.3_Missense_Mutation_p.V71L|DPP6_ENST00000404039.1_Missense_Mutation_p.V69L|DPP6_ENST00000427557.1_Missense_Mutation_p.V71L|DPP6_ENST00000406326.1_Missense_Mutation_p.V133L|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	133					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAAGGTCACTGTAGAAGATCT	0.403																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(397-399)GTA>CTA		dipeptidyl-peptidase 6 isoform 1							92.0	89.0	90.0					7																	154172062		1896	4115	6011	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154172062G>C	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.397G>C	7.37:g.154172062G>C	ENSP00000367001:p.Val133Leu					DPP6_uc003wli.2_Missense_Mutation_p.V69L|DPP6_uc003wlj.2_Missense_Mutation_p.V133L|DPP6_uc010lqh.1_Missense_Mutation_p.V71L|DPP6_uc003wlm.2_Missense_Mutation_p.V71L|DPP6_uc011kvq.1_Missense_Mutation_p.V71L	p.V133L	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		3	526	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	133			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.397G>C		.	.	.	.	.	.	.	.	.	.	G	6.123	0.390986	0.11581	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.16	4.28	0.50868	.	0.203051	0.43747	D	0.000523	T	0.11067	0.0270	.	.	.	0.39772	D	0.972183	B;B;B;B;B;B	0.26081	0.001;0.073;0.027;0.034;0.141;0.034	B;B;B;B;B;B	0.25140	0.003;0.034;0.012;0.008;0.058;0.008	T	0.10965	-1.0607	9	0.02654	T	1	-13.2497	9.734	0.40377	0.096:0.0:0.904:0.0	.	71;71;71;133;133;69	E9PDL2;B7Z1K3;P42658-2;P42658;Q8IYG9;E9PF59	.;.;.;DPP6_HUMAN;.;.	L	69;133;133;71;71	ENSP00000385578:V69L;ENSP00000384393:V133L;ENSP00000367001:V133L;ENSP00000328226:V71L;ENSP00000397303:V71L	ENSP00000328226:V71L	V	+	1	0	DPP6	153802995	1.000000	0.71417	0.940000	0.37924	0.994000	0.84299	4.430000	0.59907	1.280000	0.44463	0.650000	0.86243	GTA		0.403	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		39	44	0	0	0	0	39	44				
NCAPG2	54892	broad.mit.edu	37	7	158449250	158449250	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:158449250C>T	ENST00000409423.1	-	19	2380	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	NCAPG2_ENST00000449727.2_Silent_p.Q736Q|NCAPG2_ENST00000356309.3_Silent_p.Q736Q|NCAPG2_ENST00000541468.1_Silent_p.Q237Q|NCAPG2_ENST00000409339.3_Silent_p.Q736Q|NCAPG2_ENST00000275830.10_Silent_p.Q528Q	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	736					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTACCTTGGCCTGGGCATGCT	0.468																																						uc003wnv.1		NA																	0				ovary(1)|breast(1)|kidney(1)	3						c.(2206-2208)CAG>CAA		leucine zipper protein 5							57.0	60.0	59.0					7																	158449250		1987	4174	6161	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158449250C>T	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2208G>A	7.37:g.158449250C>T						NCAPG2_uc010lqu.1_Silent_p.Q528Q|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.Q736Q|NCAPG2_uc011kwe.1_Silent_p.Q736Q|NCAPG2_uc011kwc.1_Silent_p.Q237Q|NCAPG2_uc011kwd.1_Silent_p.Q179Q	p.Q736Q	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	18	2353	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	736					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.2208G>A	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.473975	0.01044	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.63	0.489	0.16854	.	.	.	.	.	T	0.35856	0.0946	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28870	-1.0030	4	.	.	.	-9.0942	10.5998	0.45360	0.0:0.4706:0.0:0.5294	.	.	.	.	K	538	.	.	R	-	2	0	NCAPG2	158142011	0.041000	0.20044	0.001000	0.08648	0.014000	0.08584	0.143000	0.16115	-0.142000	0.11354	-0.140000	0.14226	AGG		0.468	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		7	55	0	0	0	0	7	55				
MTUS1	57509	broad.mit.edu	37	8	17611496	17611496	+	Silent	SNP	G	G	C	rs375815032	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:17611496G>C	ENST00000262102.6	-	2	2045	c.1821C>G	c.(1819-1821)gcC>gcG	p.A607A	MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000381869.3_Silent_p.A607A|MTUS1_ENST00000381862.3_Silent_p.A607A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607					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)		p.A607A(2)		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)		TCGATTTCACGGCAGATGTTG	0.433																																						uc003wxv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1819-1821)GCC>GCG		mitochondrial tumor suppressor 1 isoform 1							176.0	164.0	168.0					8																	17611496		1897	4117	6014	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611496G>C	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.1821C>G	8.37:g.17611496G>C						MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.A607A|MTUS1_uc010lsz.2_Silent_p.A607A	p.A607A	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2295	-			607					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.1821C>G	CCDS43717.1																																																																																				0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		5	167	0	0	0	0	5	167				
JPH1	56704	broad.mit.edu	37	8	75227563	75227563	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:75227563G>C	ENST00000342232.4	-	2	712	c.672C>G	c.(670-672)cgC>cgG	p.R224R		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	224					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATTCGGACTTGCGAAGTTTCA	0.582																																						uc003yae.2		NA																	0				ovary(1)	1						c.(670-672)CGC>CGG		junctophilin 1							70.0	75.0	73.0					8																	75227563		2203	4300	6503	SO:0001819	synonymous_variant	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227563G>C	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.672C>G	8.37:g.75227563G>C						JPH1_uc003yaf.2_Silent_p.R224R|JPH1_uc003yag.1_Silent_p.R88R	p.R224R	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	712	-	Breast(64;0.00576)		224			Cytoplasmic (Potential).		B2RTZ0	Silent	SNP	ENST00000342232.4	37	c.672C>G	CCDS6217.1																																																																																				0.582	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			9	104	0	0	0	0	9	104				
RSPO2	340419	broad.mit.edu	37	8	108970481	108970481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:108970481C>A	ENST00000276659.5	-	5	1063	c.443G>T	c.(442-444)gGt>gTt	p.G148V	RSPO2_ENST00000517781.1_Missense_Mutation_p.G84V|RSPO2_ENST00000517939.1_Missense_Mutation_p.G81V|RSPO2_ENST00000378439.2_Missense_Mutation_p.G84V	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	148	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GCTCCAATGACCAACTTCACA	0.368																																						uc003yms.2		NA																	0		p.G148S(1)		skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(442-444)GGT>GTT		R-spondin family, member 2 precursor							110.0	106.0	107.0					8																	108970481		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108970481C>A	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.443G>T	8.37:g.108970481C>A	ENSP00000276659:p.Gly148Val					RSPO2_uc003ymq.2_Missense_Mutation_p.G81V|RSPO2_uc003ymr.2_Missense_Mutation_p.G84V	p.G148V	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		5	1101	-			148			TSP type-1.		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.443G>T	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682355	0.88542	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502;ENST00000521757	D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.01;-2.01;-2.75	5.81	5.81	0.92471	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.965	D	0.93623	0.6949	10	0.30854	T	0.27	-2.6947	20.4375	0.99097	0.0:1.0:0.0:0.0	.	148;84	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	V	81;84;84;148;81;81	ENSP00000428940:G81V;ENSP00000427937:G84V;ENSP00000367698:G84V;ENSP00000276659:G148V;ENSP00000428614:G81V;ENSP00000430485:G81V	ENSP00000276659:G148V	G	-	2	0	RSPO2	109039657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.696000	0.68287	2.906000	0.99361	0.655000	0.94253	GGT		0.368	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		20	41	1	0	1.5e-11	4.81e-11	20	41				
CSMD3	114788	broad.mit.edu	37	8	113326782	113326782	+	Silent	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:113326782A>T	ENST00000297405.5	-	48	7669	c.7425T>A	c.(7423-7425)ccT>ccA	p.P2475P	CSMD3_ENST00000352409.3_Silent_p.P2405P|CSMD3_ENST00000343508.3_Silent_p.P2435P|CSMD3_ENST00000455883.2_Silent_p.P2371P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2475	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTAACTGTCAGGATATCCAG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7423-7425)CCT>CCA		CUB and Sushi multiple domains 3 isoform 1							102.0	97.0	99.0					8																	113326782		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113326782A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7425T>A	8.37:g.113326782A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.P1677P|CSMD3_uc003ynt.2_Silent_p.P2435P|CSMD3_uc011lhx.1_Silent_p.P2371P|CSMD3_uc003ynw.1_Silent_p.P186P	p.P2475P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			48	7584	-			2475			CUB 14.|Extracellular (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.7425T>A	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	23	0	0	0	0	11	23				
FAM83H	286077	broad.mit.edu	37	8	144808544	144808544	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:144808544G>A	ENST00000388913.3	-	5	3212	c.3087C>T	c.(3085-3087)aaC>aaT	p.N1029N		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1029					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	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)			TGTACAAGGCGTTGGCCGTGG	0.692																																						uc003yzk.2		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(3085-3087)AAC>AAT		FAM83H							17.0	23.0	21.0					8																	144808544		2124	4233	6357	SO:0001819	synonymous_variant	286077				biomineral tissue development			g.chr8:144808544G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3087C>T	8.37:g.144808544G>A						FAM83H_uc010mfk.1_RNA	p.N1029N	NM_198488	NP_940890	Q6ZRV2	FA83H_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	3156	-	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)		1029					A0JLS2|Q8N4W0	Silent	SNP	ENST00000388913.3	37	c.3087C>T	CCDS6410.2																																																																																				0.692	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		5	10	0	0	0	0	5	10				
PARP10	84875	broad.mit.edu	37	8	145060329	145060329	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:145060329C>T	ENST00000313028.7	-	2	169	c.75G>A	c.(73-75)gaG>gaA	p.E25E	PARP10_ENST00000524918.1_Silent_p.E25E|PARP10_ENST00000525773.1_Silent_p.E37E|PARP10_ENST00000533665.1_Intron	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	25					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGTGAGCAGCTCGTCGGGCA	0.657																																						uc003zal.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6						c.(73-75)GAG>GAA		poly (ADP-ribose) polymerase family, member 10							48.0	55.0	53.0					8																	145060329		2202	4300	6502	SO:0001819	synonymous_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145060329C>T	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.75G>A	8.37:g.145060329C>T						PARP10_uc003zak.3_5'Flank|PARP10_uc011lku.1_Silent_p.E37E|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.E25E|PARP10_uc010mfn.1_Silent_p.E25E|PARP10_uc010mfo.1_Intron	p.E25E	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	183	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		25					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.75G>A	CCDS34960.1																																																																																				0.657	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		12	63	0	0	0	0	12	63				
LRRC14	9684	broad.mit.edu	37	8	145746352	145746352	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:145746352G>A	ENST00000292524.1	+	4	1118	c.972G>A	c.(970-972)gaG>gaA	p.E324E	LRRC14_ENST00000529022.1_Silent_p.E324E	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	324										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCTGCCTGAGGACCTACGCT	0.637																																						uc003zdk.1		NA																	0					0						c.(970-972)GAG>GAA		leucine rich repeat containing 14							130.0	138.0	135.0					8																	145746352		2203	4299	6502	SO:0001819	synonymous_variant	9684							g.chr8:145746352G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.972G>A	8.37:g.145746352G>A						LRRC14_uc003zdl.1_Silent_p.E324E|LRRC14_uc003zdo.2_5'Flank	p.E324E	NM_014665	NP_055480	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	1118	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		324			LRR 2.		A8K0A8|D3DWM8	Silent	SNP	ENST00000292524.1	37	c.972G>A	CCDS6432.1																																																																																				0.637	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		18	159	0	0	0	0	18	159				
SMARCA2	6595	broad.mit.edu	37	9	2076291	2076291	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:2076291C>A	ENST00000382203.1	+	13	2207	c.1998C>A	c.(1996-1998)agC>agA	p.S666R	SMARCA2_ENST00000349721.2_Missense_Mutation_p.S666R|SMARCA2_ENST00000357248.2_Missense_Mutation_p.S666R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.S666R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	666					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATCCAAATAGCGAAGAAGTTT	0.388																																						uc003zhc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1996-1998)AGC>AGA		SWI/SNF-related matrix-associated							135.0	137.0	137.0					9																	2076291		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2076291C>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1998C>A	9.37:g.2076291C>A	ENSP00000371638:p.Ser666Arg					SMARCA2_uc003zhd.2_Missense_Mutation_p.S666R|SMARCA2_uc010mha.2_Missense_Mutation_p.S657R	p.S666R	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	13	2097	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	666					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1998C>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	t	15.78	2.933688	0.52866	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.92	-3.27	0.05048	.	0.172784	0.50627	D	0.000119	T	0.81044	0.4741	L	0.43923	1.385	0.80722	D	1	B;P;B	0.36789	0.338;0.57;0.435	B;B;B	0.37943	0.075;0.261;0.174	T	0.68625	-0.5359	10	0.42905	T	0.14	-19.3867	14.4807	0.67579	0.0:0.4044:0.0:0.5956	.	267;666;666	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	R	666	ENSP00000265773:S666R;ENSP00000349788:S666R;ENSP00000371638:S666R;ENSP00000371629:S666R	ENSP00000265773:S666R	S	+	3	2	SMARCA2	2066291	0.510000	0.26171	0.719000	0.30619	0.637000	0.38172	-0.435000	0.06931	-1.839000	0.01186	-2.755000	0.00123	AGC		0.388	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		27	51	1	0	1.89e-17	6.22e-17	27	51				
TEK	7010	broad.mit.edu	37	9	27218815	27218815	+	Splice_Site	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:27218815G>T	ENST00000380036.4	+	20	3545	c.3103G>T	c.(3103-3105)Gga>Tga	p.G1035*	TEK_ENST00000519097.1_Splice_Site_p.G887*|TEK_ENST00000406359.4_Splice_Site_p.G992*	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1035	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TGTTAGCTTAGGTGAGTATCT	0.463																																						uc003zqi.3		NA																	0				ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(3103-3105)GGA>TGA		TEK tyrosine kinase, endothelial precursor							269.0	216.0	234.0					9																	27218815		2203	4300	6503	SO:0001630	splice_region_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27218815G>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3103+1G>T	9.37:g.27218815G>T						TEK_uc011lno.1_Nonsense_Mutation_p.G992*|TEK_uc011lnp.1_Nonsense_Mutation_p.G887*	p.G1035*	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	20	3545	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1035			Protein kinase.|Cytoplasmic (Potential).		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Nonsense_Mutation	SNP	ENST00000380036.4	37	c.3103G>T	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	g	42	9.606793	0.99217	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	.	.	.	4.76	4.76	0.60689	.	0.000000	0.46442	U	0.000292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.148	0.89663	0.0:0.0:1.0:0.0	.	.	.	.	X	887;1035;992	.	ENSP00000369375:G1035X	G	+	1	0	TEK	27208815	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.997000	0.93544	2.366000	0.80165	0.424000	0.28305	GGA		0.463	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		Nonsense_Mutation	13	32	1	0	6.72e-11	2.14e-10	13	32				
CCIN	881	broad.mit.edu	37	9	36170744	36170744	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:36170744C>T	ENST00000335119.2	+	1	1356	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	415					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCATGGATGGCACCGCCGTGA	0.542																																						uc003zzb.3		NA																	0				ovary(1)|skin(1)	2						c.(1243-1245)GGC>GGT		calicin							155.0	112.0	127.0					9																	36170744		2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170744C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1245C>T	9.37:g.36170744C>T							p.G415G	NM_005893	NP_005884	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1356	+			415			Kelch 3.		Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.1245C>T	CCDS6599.1																																																																																				0.542	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		29	43	0	0	0	0	29	43				
TLE4	7091	broad.mit.edu	37	9	82320843	82320843	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:82320843G>C	ENST00000376552.2	+	10	1787	c.769G>C	c.(769-771)Gac>Cac	p.D257H	TLE4_ENST00000265284.6_Missense_Mutation_p.D232H|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Missense_Mutation_p.D257H|TLE4_ENST00000376520.4_Missense_Mutation_p.D257H|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	257	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTGGTGGTTGACGTTTCCAA	0.398																																						uc004ald.2		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(748-750)GAC>CAC		transducin-like enhancer protein 4							354.0	339.0	344.0					9																	82320843		1937	4153	6090	SO:0001583	missense	7091							g.chr9:82320843G>C	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.769G>C	9.37:g.82320843G>C	ENSP00000365735:p.Asp257His					TLE4_uc004alc.2_Missense_Mutation_p.D257H|TLE4_uc010mpr.2_Missense_Mutation_p.D136H|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.D225H|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Missense_Mutation_p.D196H	p.D250H	NM_007005	NP_008936	O60756	BCE1_HUMAN			10	1597	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.748G>C	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.942211|4.942211	0.92526|0.92526	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376520;ENST00000376537;ENST00000265284;ENST00000428713;ENST00000490347|ENST00000496114	T;T;T;T;T;T|.	0.75050|.	-0.39;-0.9;-0.88;-0.55;-0.28;0.65|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.85592|.	0.5732|.	M|M	0.88979|0.88979	2.995|2.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.986;1.0;0.991|.	P;D;D|.	0.97110|.	0.858;1.0;0.966|.	D|.	0.86179|.	0.1605|.	10|.	0.87932|.	D|.	0|.	-27.3561|-27.3561	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	232;257;257|.	F8W6T6;Q04727-3;Q04727|.	.;.;TLE4_HUMAN|.	H|S	257;257;257;232;242;127|47	ENSP00000365735:D257H;ENSP00000365703:D257H;ENSP00000365720:D257H;ENSP00000265284:D232H;ENSP00000409313:D242H;ENSP00000417844:D127H|.	ENSP00000265284:D232H|.	D|X	+|+	1|2	0|2	TLE4|TLE4	81510663|81510663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAC|TGA		0.398	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		6	80	0	0	0	0	6	80				
GRIN3A	116443	broad.mit.edu	37	9	104449192	104449192	+	Silent	SNP	G	G	A	rs144389302	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:104449192G>A	ENST00000361820.3	-	2	1590	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	330					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTTCCATGTCGCAGCCAAACA	0.527																																						uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(988-990)TGC>TGT		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	A		0,4406		0,0,2203	85.0	82.0	83.0		990	-6.5	0.0	9	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRIN3A	NM_133445.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		330/1116	104449192	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104449192G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.990C>T	9.37:g.104449192G>A						GRIN3A_uc004bbq.1_Silent_p.C330C	p.C330C	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			2	1591	-		Acute lymphoblastic leukemia(62;0.0568)	330			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.990C>T	CCDS6758.1																																																																																				0.527	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			11	26	0	0	0	0	11	26				
SETX	23064	broad.mit.edu	37	9	135204921	135204921	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:135204921G>A	ENST00000224140.5	-	10	2246	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	SETX_ENST00000372169.2_Silent_p.C688C|SETX_ENST00000393220.1_Silent_p.C688C	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	688					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTGCTTTAAGCATGACCCAG	0.328																																						uc004cbk.2		NA																	0				ovary(2)|skin(1)	3						c.(2062-2064)TGC>TGT		senataxin							78.0	78.0	78.0					9																	135204921		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204921G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2064C>T	9.37:g.135204921G>A						SETX_uc004cbj.2_Silent_p.C307C|SETX_uc010mzt.2_Silent_p.C307C	p.C688C	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	2247	-		Myeloproliferative disorder(178;0.204)	688					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.2064C>T	CCDS6947.1																																																																																				0.328	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		25	43	0	0	0	0	25	43				
GBGT1	26301	broad.mit.edu	37	9	136037789	136037789	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:136037789C>T	ENST00000372040.3	-	2	322	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	GBGT1_ENST00000372036.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372043.3_Missense_Mutation_p.R4Q|RALGDS_ENST00000542690.1_Missense_Mutation_p.R4Q|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000540636.1_Missense_Mutation_p.R4Q	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	4					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GGCCAGTCTCCGGCGATGCAT	0.662																																						uc011mcw.1		NA								T					CIITA		PMBL|Hodgkin Lymphona|		0				large_intestine(1)|lung(1)|ovary(1)	3						c.(10-12)CGG>CAG		ral guanine nucleotide dissociation stimulator							33.0	29.0	30.0					9																	136037789		2202	4297	6499	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:136037789C>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.11G>A	9.37:g.136037789C>T	ENSP00000361110:p.Arg4Gln					GBGT1_uc004ccx.2_5'UTR|GBGT1_uc010nab.2_Missense_Mutation_p.R4Q|GBGT1_uc011mcx.1_Missense_Mutation_p.R4Q|GBGT1_uc004ccw.2_Missense_Mutation_p.R4Q|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Missense_Mutation_p.R4Q	p.R4Q	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	2	292	-			Error:Variant_position_missing_in_Q12967_after_alignment					A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.11G>A	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	C	6.871	0.530024	0.13127	.	.	ENSG00000160271;ENSG00000148288;ENSG00000148288;ENSG00000148288;ENSG00000148288;ENSG00000148288	ENST00000542690;ENST00000372043;ENST00000372040;ENST00000540636;ENST00000372038;ENST00000372036	T;T;T;T;T;T	0.33865	1.76;2.13;5.0;5.01;1.39;1.47	2.6	-5.2	0.02823	.	4.129620	0.00909	N	0.002451	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26708	0.157;0.0;0.0;0.157	B;B;B;B	0.15052	0.007;0.0;0.001;0.012	T	0.07986	-1.0744	10	0.42905	T	0.14	-9.577	1.775	0.03019	0.1158:0.4005:0.2319:0.2519	.	4;4;4;4	B7Z8S5;F5H6M6;Q8N5D6-2;Q8N5D6	.;.;.;GBGT1_HUMAN	Q	4	ENSP00000437518:R4Q;ENSP00000361113:R4Q;ENSP00000361110:R4Q;ENSP00000437663:R4Q;ENSP00000361108:R4Q;ENSP00000361106:R4Q	ENSP00000361106:R4Q	R	-	2	0	GBGT1;RALGDS	135027610	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.988000	0.01482	-2.968000	0.00287	-0.657000	0.03884	CGG		0.662	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		5	15	0	0	0	0	5	15				
SURF4	6836	broad.mit.edu	37	9	136234223	136234223	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:136234223G>A	ENST00000371989.3	-	2	276	c.147C>T	c.(145-147)agC>agT	p.S49S	SURF4_ENST00000371991.3_Silent_p.S49S|SURF4_ENST00000485435.2_Silent_p.S49S|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Silent_p.S49S	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	49					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGCGCTGCTCGCTCCACTGGA	0.597																																						uc004cdj.2		NA																	0					0						c.(145-147)AGC>AGT		surfeit 4							119.0	95.0	103.0					9																	136234223		2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136234223G>A		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.147C>T	9.37:g.136234223G>A						SURF4_uc011mda.1_Silent_p.S40S|SURF4_uc010nal.2_Silent_p.S81S|SURF4_uc011mdb.1_Silent_p.S6S|SURF4_uc011mdc.1_Silent_p.S6S|SURF4_uc011mdd.1_Silent_p.S49S	p.S49S	NM_033161	NP_149351	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	2	277	-			49					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.147C>T	CCDS6968.1																																																																																				0.597	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		22	25	0	0	0	0	22	25				
FCN1	2219	broad.mit.edu	37	9	137809628	137809628	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:137809628C>T	ENST00000371806.3	-	1	181	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	30					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GACATGTGTCCGCAGCCTGGG	0.572																																						uc004cfi.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(88-90)GCG>GCA		ficolin 1 precursor							81.0	75.0	77.0					9																	137809628		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137809628C>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.90G>A	9.37:g.137809628C>T							p.A30A	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	1	182	-		Myeloproliferative disorder(178;0.0333)	30					Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.90G>A	CCDS6985.1																																																																																				0.572	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		23	42	0	0	0	0	23	42				
MAGEB18	286514	broad.mit.edu	37	X	26157205	26157205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:26157205G>A	ENST00000325250.1	+	2	290	c.103G>A	c.(103-105)Gga>Aga	p.G35R		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	35						cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGTGGCAGAAGGAGAGTCACC	0.587																																						uc004dbq.1		NA																	0				central_nervous_system(1)	1						c.(103-105)GGA>AGA		melanoma antigen family B, 18							52.0	45.0	47.0					X																	26157205		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157205G>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.103G>A	X.37:g.26157205G>A	ENSP00000314543:p.Gly35Arg						p.G35R	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	290	+			35						Missense_Mutation	SNP	ENST00000325250.1	37	c.103G>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	G	8.099	0.776167	0.16051	.	.	ENSG00000176774	ENST00000325250	T	0.04194	3.68	3.93	-0.507	0.11985	Melanoma associated antigen, MAGE, N-terminal (1);	2.322340	0.02115	N	0.055125	T	0.04724	0.0128	L	0.27053	0.805	0.09310	N	1	B	0.26809	0.16	B	0.20184	0.028	T	0.41124	-0.9526	10	0.56958	D	0.05	.	7.0248	0.24934	0.5444:0.0:0.4556:0.0	.	35	Q96M61	MAGBI_HUMAN	R	35	ENSP00000314543:G35R	ENSP00000314543:G35R	G	+	1	0	MAGEB18	26067126	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	0.607000	0.24209	-0.260000	0.09418	-0.176000	0.13171	GGA		0.587	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		5	15	0	0	0	0	5	15				
CASK	8573	broad.mit.edu	37	X	41390289	41390289	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:41390289G>A	ENST00000378163.1	-	25	2965	c.2491C>T	c.(2491-2493)Ctg>Ttg	p.L831L	CASK_ENST00000421587.2_Silent_p.L802L|CASK_ENST00000442742.2_Silent_p.L803L|CASK_ENST00000378166.4_Silent_p.L826L|CASK_ENST00000361962.4_Silent_p.L814L|CASK_ENST00000378158.1_Silent_p.L814L|CASK_ENST00000318588.9_Silent_p.L826L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	831	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATTGCAATCAGCCCCTGCTCG	0.512																																					NSCLC(42;104 1086 3090 27189 35040)	uc004dfl.3		NA																	0				ovary(3)|lung(2)|stomach(1)	6						c.(2476-2478)CTG>TTG		calcium/calmodulin-dependent serine protein							200.0	130.0	153.0					X																	41390289		2203	4300	6503	SO:0001819	synonymous_variant	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41390289G>A	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2491C>T	X.37:g.41390289G>A						CASK_uc004dfj.3_Silent_p.L371L|CASK_uc004dfk.3_Silent_p.L646L|CASK_uc004dfm.3_Silent_p.L803L|CASK_uc004dfn.3_Silent_p.L802L	p.L826L	NM_003688	NP_003679	O14936	CSKP_HUMAN			25	2522	-			831			Guanylate kinase-like.		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	37	c.2476C>T																																																																																					0.512	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		28	12	0	0	0	0	28	12				
TCEAL2	140597	broad.mit.edu	37	X	101382277	101382277	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:101382277G>T	ENST00000372780.1	+	3	694	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	TCEAL2_ENST00000329035.2_Missense_Mutation_p.D159Y	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AGCCATACATGATATGAATTT	0.428																																						uc004eip.2		NA																	0					0						c.(475-477)GAT>TAT		transcription elongation factor A (SII)-like 2							128.0	124.0	126.0					X																	101382277		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101382277G>T	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.475G>T	X.37:g.101382277G>T	ENSP00000361866:p.Asp159Tyr						p.D159Y	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN			3	694	+			159					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.475G>T	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055354	0.55325	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.10099	2.91;2.91	3.17	1.37	0.22104	.	0.279161	0.25786	N	0.028313	T	0.20780	0.0500	L	0.55103	1.725	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.03807	-1.1002	10	0.87932	D	0	.	4.7363	0.12989	0.314:0.0:0.686:0.0	.	159	Q9H3H9	TCAL2_HUMAN	Y	159	ENSP00000361866:D159Y;ENSP00000332359:D159Y	ENSP00000332359:D159Y	D	+	1	0	TCEAL2	101268933	0.006000	0.16342	0.003000	0.11579	0.874000	0.50279	1.108000	0.31123	0.234000	0.21139	0.594000	0.82650	GAT		0.428	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		11	58	1	0	1.34e-11	4.3e-11	11	58				
TEX13A	56157	broad.mit.edu	37	X	104464103	104464103	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:104464103G>T	ENST00000413579.1	-	5	884	c.773C>A	c.(772-774)aCc>aAc	p.T258N	TEX13A_ENST00000372575.1_Missense_Mutation_p.P259T|TEX13A_ENST00000372578.3_Missense_Mutation_p.P259T|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	258							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCCCAATAGGTGTACTTTTC	0.562																																						uc004ema.2		NA																	0				ovary(2)	2						c.(772-774)ACC>AAC		testis expressed sequence 13A							59.0	59.0	59.0					X																	104464103		1979	4142	6121	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464103G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.773C>A	X.37:g.104464103G>T	ENSP00000399753:p.Thr258Asn					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.P259T	p.T258N	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			5	885	-			258					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.773C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.93|12.93	2.084301|2.084301	0.36758|0.36758	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.45|3.45	1.5|1.5	0.22942|0.22942	.|.	.|0.747973	.|0.10944	.|N	.|0.616872	T|T	0.32164|0.32164	0.0820|0.0820	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	.|B	.|0.34290	.|0.447	.|B	.|0.25759	.|0.063	T|T	0.12066|0.12066	-1.0562|-1.0562	6|9	0.87932|0.38643	D|T	0|0.18	.|.	7.2035|7.2035	0.25895|0.25895	0.0:0.0:0.5187:0.4813|0.0:0.0:0.5187:0.4813	.|.	.|258	.|Q9BXU3	.|TX13A_HUMAN	T|N	259|258	.|.	ENSP00000361656:P259T|ENSP00000399753:T258N	P|T	-|-	1|2	0|0	TEX13A|TEX13A	104350759|104350759	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.723000|0.723000	0.25939|0.25939	0.244000|0.244000	0.21351|0.21351	0.513000|0.513000	0.50165|0.50165	CCT|ACC		0.562	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		15	5	1	0	1.15e-07	3.53e-07	15	5				
GPR119	139760	broad.mit.edu	37	X	129518927	129518927	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:129518927G>T	ENST00000276218.2	-	1	584	c.495C>A	c.(493-495)ttC>ttA	p.F165L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	165					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GGGTCAGCACGAAGTGAGGGT	0.532																																						uc011muv.1		NA																	0				ovary(2)	2						c.(493-495)TTC>TTA		G protein-coupled receptor 119							112.0	92.0	99.0					X																	129518927		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518927G>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.495C>A	X.37:g.129518927G>T	ENSP00000276218:p.Phe165Leu						p.F165L	NM_178471	NP_848566	Q8TDV5	GP119_HUMAN			1	495	-			165			Helical; Name=5; (Potential).		Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.495C>A	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	G	7.470	0.646431	0.14451	.	.	ENSG00000147262	ENST00000276218	T	0.36520	1.25	4.74	-2.58	0.06228	GPCR, rhodopsin-like superfamily (1);	0.354834	0.30028	N	0.010593	T	0.27419	0.0673	L	0.43598	1.365	0.09310	N	1	P	0.44776	0.843	B	0.40741	0.339	T	0.30563	-0.9974	10	0.87932	D	0	-14.2445	11.2512	0.49026	0.6222:0.0:0.3778:0.0	.	165	Q8TDV5	GP119_HUMAN	L	165	ENSP00000276218:F165L	ENSP00000276218:F165L	F	-	3	2	GPR119	129346608	0.954000	0.32549	0.169000	0.22859	0.276000	0.26787	1.189000	0.32114	-0.503000	0.06586	-0.332000	0.08345	TTC		0.532	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		21	13	1	0	2.55e-18	8.44e-18	21	13				
FLNA	2316	broad.mit.edu	37	X	153588903	153588903	+	Missense_Mutation	SNP	C	C	T	rs369668866		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:153588903C>T	ENST00000369850.3	-	22	3496	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H	FLNA_ENST00000360319.4_Missense_Mutation_p.R1087H|FLNA_ENST00000422373.1_Missense_Mutation_p.R1087H|FLNA_ENST00000344736.4_Missense_Mutation_p.R1087H|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1087					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)					GATGGTGAAGCGGGCGGGGGA	0.692											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004fkk.2		NA																	0				breast(6)	6						c.(3259-3261)CGC>CAC		filamin A, alpha isoform 2			HIS/ARG,HIS/ARG	1,3302		0,1,1367,567	23.0	26.0	25.0		3260,3260	4.2	1.0	X		25	0,6433		0,0,2327,1779	no	missense,missense	FLNA	NM_001456.3,NM_001110556.1	29,29	0,1,3694,2346	TT,TC,CC,C		0.0,0.0303,0.0103	benign,benign	1087/2640,1087/2648	153588903	1,9735	1935	4106	6041	SO:0001583	missense	2316				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:153588903C>T	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.3260G>A	X.37:g.153588903C>T	ENSP00000358866:p.Arg1087His		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.R1087H	p.R1087H	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			22	3509	-	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)		1087			Filamin 9.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3260G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077126	0.36662	3.03E-4	0.0	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.06	4.18	0.49190	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.228496	0.35708	N	0.003024	T	0.77505	0.4140	L	0.28274	0.84	0.80722	D	1	B;B	0.30664	0.289;0.002	B;B	0.38921	0.285;0.005	T	0.76138	-0.3069	10	0.56958	D	0.05	.	6.5514	0.22436	0.0:0.4161:0.4598:0.1241	.	1087;1087	P21333-2;P21333	.;FLNA_HUMAN	H	1087;1060;1087;1087;1087	ENSP00000353467:R1087H;ENSP00000416926:R1087H;ENSP00000358866:R1087H;ENSP00000358863:R1087H	ENSP00000358863:R1087H	R	-	2	0	FLNA	153242097	0.023000	0.18921	1.000000	0.80357	0.875000	0.50365	0.424000	0.21330	2.104000	0.64026	0.525000	0.51046	CGC		0.692	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			5	14	0	0	0	0	5	14				
PRDM2	7799	broad.mit.edu	37	1	14107331	14107331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:14107331delC	ENST00000235372.7	+	8	3897	c.3041delC	c.(3040-3042)gccfs	p.A1014fs	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000311066.5_Frame_Shift_Del_p.A1014fs	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1014	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTCTCAAATGCCACCGCACAG	0.632																																						uc001avi.2		NA																	0				ovary(1)	1						c.(3040-3042)GCCfs		retinoblastoma protein-binding zinc finger							150.0	128.0	136.0					1																	14107331		2203	4300	6503	SO:0001589	frameshift_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107331delC	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3041delC	1.37:g.14107331delC	ENSP00000235372:p.Ala1014fs					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Frame_Shift_Del_p.A1014fs|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Frame_Shift_Del_p.A813fs|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.A1014fs	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3897	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1014			Pro-rich.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Frame_Shift_Del	DEL	ENST00000235372.7	37	c.3041delC	CCDS150.1																																																																																				0.632	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		44	74	NA	NA	NA	NA	44	74	---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36226310	36226311	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:36226310_36226311insT	ENST00000318121.3	-	8	1268_1269	c.1211_1212insA	c.(1210-1212)aatfs	p.N404fs	CLSPN_ENST00000373220.3_Frame_Shift_Ins_p.N404fs|CLSPN_ENST00000520551.1_Frame_Shift_Ins_p.N404fs|CLSPN_ENST00000251195.5_Frame_Shift_Ins_p.N404fs	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	404					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTAGCTCTTCATTTTTTACCAA	0.436																																						uc001bzi.2		NA																	0				breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(1210-1212)AATfs		claspin																																				SO:0001589	frameshift_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36226310_36226311insT	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1212dupA	1.37:g.36226316_36226316dupT	ENSP00000312995:p.Asn404fs					CLSPN_uc009vux.2_Frame_Shift_Ins_p.N404fs	p.N404fs	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			8	1291_1292	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	404					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Frame_Shift_Ins	INS	ENST00000318121.3	37	c.1211_1212insA	CCDS396.1																																																																																				0.436	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		19	104	NA	NA	NA	NA	19	104	---	---	---	---
FBXO18	84893	broad.mit.edu	37	10	5958267	5958267	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:5958267delG	ENST00000362091.4	+	10	1751	c.1636delG	c.(1636-1638)gggfs	p.G546fs	FBXO18_ENST00000379999.5_Frame_Shift_Del_p.G597fs|FBXO18_ENST00000397269.3_Frame_Shift_Del_p.G33fs	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	546					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTTGCTGAAGGGAAGGGTGG	0.463																																						uc001iis.2		NA																	0				ovary(2)|skin(1)	3						c.(1636-1638)GGGfs		F-box only protein, helicase, 18 isoform 2							125.0	112.0	117.0					10																	5958267		2203	4300	6503	SO:0001589	frameshift_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5958267delG	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1636delG	10.37:g.5958267delG	ENSP00000355415:p.Gly546fs					FBXO18_uc001iir.2_Frame_Shift_Del_p.G472fs|FBXO18_uc009xig.2_Frame_Shift_Del_p.G472fs|FBXO18_uc001iit.2_Frame_Shift_Del_p.G597fs	p.G546fs	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			10	1731	+			546					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Frame_Shift_Del	DEL	ENST00000362091.4	37	c.1636delG	CCDS7072.1																																																																																				0.463	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		19	71	NA	NA	NA	NA	19	71	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24825815	24825817	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:24825815_24825817delAGA	ENST00000376454.3	+	17	3557_3559	c.3527_3529delAGA	c.(3526-3531)gagaag>gag	p.K1178del	KIAA1217_ENST00000307544.6_In_Frame_Del_p.K861del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.K861del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.K1142del|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376451.2_In_Frame_Del_p.K861del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.K1143del	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1178					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						CCACCCAAGGAGAAGAAGGTAAC	0.517																																						uc001iru.3		NA																	0				ovary(5)|skin(2)	7						c.(3526-3531)GAGAAG>GAG		sickle tail isoform 1																																				SO:0001651	inframe_deletion	56243				embryonic skeletal system development	cytoplasm		g.chr10:24825815_24825817delAGA	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.3527_3529delAGA	10.37:g.24825818_24825820delAGA	ENSP00000365637:p.Lys1178del					KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_In_Frame_Del_p.K1142del|KIAA1217_uc010qcz.1_In_Frame_Del_p.K1143del|KIAA1217_uc001irw.2_In_Frame_Del_p.K861del|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_In_Frame_Del_p.K861del|KIAA1217_uc001iry.2_In_Frame_Del_p.K861del	p.K1178del	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			17	3930_3932	+			1178					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Del	DEL	ENST00000376454.3	37	c.3527_3529delAGA	CCDS31165.1																																																																																				0.517	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		28	40	NA	NA	NA	NA	28	40	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7064303	7064303	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:7064303delC	ENST00000299481.4	+	4	1392	c.1046delC	c.(1045-1047)gccfs	p.A349fs		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	349	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGAGGTGGGCCATGAAAGTA	0.428																																						uc001mfb.1		NA																	0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1045-1047)GCCfs		NLR family, pyrin domain containing 14							100.0	104.0	102.0					11																	7064303		2201	4296	6497	SO:0001589	frameshift_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064303delC	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1046delC	11.37:g.7064303delC	ENSP00000299481:p.Ala349fs						p.A349fs	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1369	+			349			NACHT.		Q7RTR6	Frame_Shift_Del	DEL	ENST00000299481.4	37	c.1046delC	CCDS7776.1																																																																																				0.428	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		30	48	NA	NA	NA	NA	30	48	---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20641147	20641148	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:20641147_20641148delGA	ENST00000382874.2	+	21	3479_3480	c.3289_3290delGA	c.(3289-3291)gagfs	p.E1097fs	ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382869.3_Frame_Shift_Del_p.E1097fs|ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.E1097fs	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1097					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGTATTAGATGAGTTAAAATCT	0.302																																						uc001umr.2		NA																	0				lung(3)|ovary(2)|prostate(1)	6						c.(3289-3291)GAGfs		zinc finger protein 198																																				SO:0001589	frameshift_variant	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20641147_20641148delGA	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3289_3290delGA	13.37:g.20641147_20641148delGA	ENSP00000372327:p.Glu1097fs					ZMYM2_uc001ums.2_Frame_Shift_Del_p.E1097fs|ZMYM2_uc001umt.2_Frame_Shift_Del_p.E1097fs|ZMYM2_uc001umv.2_Frame_Shift_Del_p.E477fs|ZMYM2_uc001umw.2_Frame_Shift_Del_p.E550fs	p.E1097fs	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	21	3587_3588	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	1097					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Del	DEL	ENST00000382874.2	37	c.3289_3290delGA	CCDS45016.1																																																																																				0.302	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		11	34	NA	NA	NA	NA	11	34	---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38320520	38320520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:38320520delG	ENST00000379705.3	-	3	1308	c.451delC	c.(451-453)catfs	p.H151fs	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000358477.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379673.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000355779.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379681.3_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000447043.1_Frame_Shift_Del_p.H151fs			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	151	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTATTTGTATGGGCTGCCAAA	0.433																																						uc001uws.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(451-453)CATfs		transient receptor potential cation channel,							88.0	105.0	99.0					13																	38320520		2203	4300	6503	SO:0001589	frameshift_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320520delG	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.451delC	13.37:g.38320520delG	ENSP00000369027:p.His151fs					TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Frame_Shift_Del_p.H151fs|TRPC4_uc010tey.1_Frame_Shift_Del_p.H151fs|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Frame_Shift_Del_p.H151fs|TRPC4_uc010aby.2_Frame_Shift_Del_p.H151fs	p.H151fs	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	686	-			151			Cytoplasmic (Potential).|ANK 4.|Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Frame_Shift_Del	DEL	ENST00000379705.3	37	c.451delC	CCDS9365.1																																																																																				0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		49	111	NA	NA	NA	NA	49	111	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34529660	34529661	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:34529660_34529661insA	ENST00000354181.3	-	22	3385_3386	c.2893_2894insT	c.(2893-2895)tatfs	p.Y965fs	SLC12A6_ENST00000560164.1_Frame_Shift_Ins_p.Y777fs|SLC12A6_ENST00000558589.1_Frame_Shift_Ins_p.Y956fs|SLC12A6_ENST00000451844.2_Frame_Shift_Ins_p.Y777fs|SLC12A6_ENST00000458406.2_Frame_Shift_Ins_p.Y906fs|SLC12A6_ENST00000290209.5_Frame_Shift_Ins_p.Y914fs|SLC12A6_ENST00000397707.2_Frame_Shift_Ins_p.Y950fs|SLC12A6_ENST00000560611.1_Frame_Shift_Ins_p.Y965fs|SLC12A6_ENST00000397702.2_Frame_Shift_Ins_p.Y906fs|SLC12A6_ENST00000558667.1_Frame_Shift_Ins_p.Y965fs			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	965					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)	GCGTAAGTGATATAGGAAGGTG	0.48																																						uc001zhw.2		NA																	0				central_nervous_system(5)|ovary(1)|skin(1)	7						c.(2893-2895)TATfs		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34529660_34529661insA	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.2894dupT	15.37:g.34529661_34529661dupA	ENSP00000346112:p.Tyr965fs					SLC12A6_uc001zhv.2_Frame_Shift_Ins_p.Y914fs|SLC12A6_uc001zhx.2_Frame_Shift_Ins_p.Y950fs|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Frame_Shift_Ins_p.Y906fs|SLC12A6_uc001zib.2_Frame_Shift_Ins_p.Y956fs|SLC12A6_uc001zic.2_Frame_Shift_Ins_p.Y965fs|SLC12A6_uc010bau.2_Frame_Shift_Ins_p.Y965fs|SLC12A6_uc001zid.2_Frame_Shift_Ins_p.Y906fs|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Frame_Shift_Ins_p.Y777fs	p.Y965fs	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	21	3057_3058	-		all_lung(180;2.78e-08)	965			Cytoplasmic (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Frame_Shift_Ins	INS	ENST00000354181.3	37	c.2893_2894insT	CCDS58352.1																																																																																				0.480	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		19	41	NA	NA	NA	NA	19	41	---	---	---	---
KRT9	3857	broad.mit.edu	37	17	39726431	39726440	+	Frame_Shift_Del	DEL	GTCCAGGAGA	GTCCAGGAGA	-	rs368965436		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:39726431_39726440delGTCCAGGAGA	ENST00000246662.4	-	2	740_749	c.675_684delTCTCCTGGAC	c.(673-684)actctcctggacfs	p.TLLD225fs	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	225	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGTTGTCAATGTCCAGGAGAGTTTTGTTGT	0.51																																						uc002hxe.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(673-684)ACTCTCCTGGACfs		keratin 9																																				SO:0001589	frameshift_variant	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39726431_39726440delGTCCAGGAGA		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.675_684delTCTCCTGGAC	17.37:g.39726431_39726440delGTCCAGGAGA	ENSP00000246662:p.Thr225fs					JUP_uc010wfs.1_Intron	p.T225fs	NM_000226	NP_000217	P35527	K1C9_HUMAN			2	741_750	-		Breast(137;0.000307)	225_228			Rod.|Coil 1B.		O00109|Q0IJ47|Q14665	Frame_Shift_Del	DEL	ENST00000246662.4	37	c.675_684delTCTCCTGGAC	CCDS32654.1																																																																																				0.510	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		10	334	NA	NA	NA	NA	10	334	---	---	---	---
PGS1	9489	broad.mit.edu	37	17	76396892	76396892	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:76396892delA	ENST00000262764.6	+	6	862	c.836delA	c.(835-837)gacfs	p.D280fs	PGS1_ENST00000329897.7_Frame_Shift_Del_p.D145fs|PGS1_ENST00000588281.1_3'UTR|SNORA30_ENST00000363193.1_RNA	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	280					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGCAGGGGGACGACACGGTG	0.637																																					Esophageal Squamous(45;182 1126 10685 43198)	uc002jvm.2		NA																	0					0						c.(835-837)GACfs		phosphatidylglycerophosphate synthase 1							60.0	69.0	66.0					17																	76396892		2169	4259	6428	SO:0001589	frameshift_variant	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76396892delA		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.836delA	17.37:g.76396892delA	ENSP00000262764:p.Asp280fs					PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_5'UTR|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_5'UTR	p.D279fs	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		6	848	+			279					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Frame_Shift_Del	DEL	ENST00000262764.6	37	c.836delA	CCDS42391.1																																																																																				0.637	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		15	57	NA	NA	NA	NA	15	57	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138414509	138414510	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:138414509_138414510insA	ENST00000409968.1	+	23	4427_4428	c.4249_4250insA	c.(4249-4251)caafs	p.Q1417fs	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Frame_Shift_Ins_p.Q1389fs|THSD7B_ENST00000272643.3_Frame_Shift_Ins_p.Q1420fs			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1419	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGCTGCCCCCAACAGGTTCTA	0.426																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4162-4164)CAAfs		thrombospondin, type I, domain containing 7B																																				SO:0001589	frameshift_variant	80731							g.chr2:138414509_138414510insA			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4251dupA	2.37:g.138414511_138414511dupA	ENSP00000387145:p.Gln1417fs					THSD7B_uc010zbj.1_Intron	p.Q1388fs	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	22	4162_4163	+									Frame_Shift_Ins	INS	ENST00000409968.1	37	c.4162_4163insA																																																																																					0.426	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		51	206	NA	NA	NA	NA	51	206	---	---	---	---
NEK4	6787	broad.mit.edu	37	3	52778296	52778297	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:52778296_52778297delCT	ENST00000233027.5	-	11	2054_2055	c.1852_1853delAG	c.(1852-1854)aggfs	p.R620fs	NEK4_ENST00000535191.1_Frame_Shift_Del_p.R531fs|NEK4_ENST00000383721.4_Frame_Shift_Del_p.R574fs	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	620					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TAGTCGCCTCCTCTCTCTGGCT	0.406																																						uc003dfq.3		NA																	0				large_intestine(1)	1						c.(1852-1854)AGGfs		NIMA-related kinase 4																																				SO:0001589	frameshift_variant	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52778296_52778297delCT	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1852_1853delAG	3.37:g.52778302_52778303delCT	ENSP00000233027:p.Arg620fs					NEK4_uc011bej.1_Frame_Shift_Del_p.R529fs|NEK4_uc003dfr.2_Frame_Shift_Del_p.R572fs	p.R618fs	NM_003157	NP_003148	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	11	2041_2042	-			618					A5YM70|B2R633|B7Z200|Q6P576	Frame_Shift_Del	DEL	ENST00000233027.5	37	c.1852_1853delAG	CCDS2863.1																																																																																				0.406	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		52	151	NA	NA	NA	NA	52	151	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	175995964	175995965	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:175995964_175995965delCT	ENST00000510636.1	+	5	542_543	c.268_269delCT	c.(268-270)ctcfs	p.L90fs	CDHR2_ENST00000261944.5_Frame_Shift_Del_p.L90fs|CDHR2_ENST00000506348.1_Frame_Shift_Del_p.L90fs	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	90	Cadherin 1. {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						GCTGCAGACACTCTACACATTC	0.644																																						uc003mem.1		NA																	0				ovary(2)	2						c.(268-270)CTCfs		protocadherin LKC precursor																																				SO:0001589	frameshift_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:175995964_175995965delCT	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.268_269delCT	5.37:g.175995966_175995967delCT	ENSP00000424565:p.Leu90fs					CDHR2_uc003men.1_Frame_Shift_Del_p.L90fs	p.L90fs	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			5	334_335	+			90			Extracellular (Potential).|Cadherin 1.		A1L3U4|A6NC80|Q9NXP8	Frame_Shift_Del	DEL	ENST00000510636.1	37	c.268_269delCT	CCDS34297.1																																																																																				0.644	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		18	44	NA	NA	NA	NA	18	44	---	---	---	---
MGAT4B	11282	broad.mit.edu	37	5	179228834	179228837	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:179228834_179228837delCTTT	ENST00000292591.7	-	2	580_583	c.230_233delAAAG	c.(229-234)gaaaggfs	p.ER77fs	MGAT4B_ENST00000337755.5_Frame_Shift_Del_p.ER92fs|MGAT4B_ENST00000521305.1_5'UTR	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	77					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGCCTGCCTTTCTGACACGGC	0.667											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(13;414 434 4098 22176 23230)	uc003mks.2		NA																	0					0						c.(229-234)GAAAGGfs		alpha-1,3-mannosyl-glycoprotein																																				SO:0001589	frameshift_variant	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179228834_179228837delCTTT	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.230_233delAAAG	5.37:g.179228834_179228837delCTTT	ENSP00000292591:p.Glu77fs		OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1952	MGAT4B_uc003mkp.2_5'Flank|MGAT4B_uc003mkq.2_5'UTR|MGAT4B_uc003mkr.2_Frame_Shift_Del_p.E92fs	p.E77fs	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	599_602	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	77_78			Potential.|Lumenal (Potential).		A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Frame_Shift_Del	DEL	ENST00000292591.7	37	c.230_233delAAAG	CCDS4448.1																																																																																				0.667	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		7	31	NA	NA	NA	NA	7	31	---	---	---	---
