#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C1orf158	93190	broad.mit.edu	37	1	12820814	12820814	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:12820814G>T	ENST00000288048.5	+	4	731	c.515G>T	c.(514-516)tGc>tTc	p.C172F	C1orf158_ENST00000376210.3_Missense_Mutation_p.C134F	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	172										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCGTTGTGCGCTATGTCC	0.577																																							uc001auh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(514-516)TGC>TTC		hypothetical protein LOC93190							144.0	120.0	128.0					1																	12820814		2203	4300	6503	SO:0001583	missense	93190							g.chr1:12820814G>T	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.515G>T	1.37:g.12820814G>T	ENSP00000288048:p.Cys172Phe						p.C172F	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	4	731	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	172					Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	c.515G>T	CCDS147.1	.	.	.	.	.	.	.	.	.	.	.	6.870	0.529963	0.13127	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.42900	0.96;0.96	4.75	3.84	0.44239	.	0.770334	0.12337	N	0.477894	T	0.33673	0.0871	L	0.51422	1.61	0.09310	N	1	B	0.28636	0.218	B	0.24006	0.05	T	0.18871	-1.0323	10	0.15066	T	0.55	-5.0976	9.692	0.40134	0.0:0.3464:0.6536:0.0	.	172	Q8N1D5	CA158_HUMAN	F	172;134	ENSP00000288048:C172F;ENSP00000365383:C134F	ENSP00000288048:C172F	C	+	2	0	C1orf158	12743401	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	0.579000	0.23788	1.206000	0.43276	0.563000	0.77884	TGC		0.577	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		31	76	1	0	3.99451e-17	0.009535	5.76087e-17	31	76				
Unknown	0	broad.mit.edu	37	1	13183396	13183396	+	IGR	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:13183396G>A								RP13-221M14.3 (18928 upstream) : PRAMEF26 (32959 downstream)																							TAGAATTGAAGCCACTTTTGC	0.512																																							uc010obg.1		NA																	0					0						c.(475-477)GGC>GGT		heterogeneous nuclear ribonucleoprotein C-like							57.0	45.0	48.0					1																	13183396		692	1591	2283	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183396G>A																													1.37:g.13183396G>A							p.G159G	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	572	-			159						Silent	SNP		37	c.477C>T																																																																																				0	0.512									60	730	0	0	0	0.00361	0	60	730				
PADI3	51702	broad.mit.edu	37	1	17597416	17597416	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:17597416C>A	ENST00000375460.3	+	8	914	c.874C>A	c.(874-876)Cga>Aga	p.R292R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	292					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTGGTGTTCCGAGTGGCACC	0.622																																							uc001bai.2		NA																	0				ovary(1)|breast(1)	2						c.(874-876)CGA>AGA		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						83.0	74.0	77.0					1																	17597416		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17597416C>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.874C>A	1.37:g.17597416C>A							p.R292R	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	8	914	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	292					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.874C>A	CCDS179.1																																																																																				0.622	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			17	54	1	0	1.67942e-08	0.006122	2.00966e-08	17	54				
KLHDC7A	127707	broad.mit.edu	37	1	18809713	18809713	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:18809713G>A	ENST00000400664.1	+	1	2290	c.2238G>A	c.(2236-2238)gtG>gtA	p.V746V		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	746						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTTTGTGCCCAAGGAGC	0.647																																							uc001bax.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2236-2238)GTG>GTA		kelch domain containing 7A							75.0	75.0	75.0					1																	18809713		2203	4300	6503	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18809713G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.2238G>A	1.37:g.18809713G>A						KLHDC7A_uc009vpg.2_Intron	p.V746V	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	2290	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	746					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.2238G>A	CCDS185.2																																																																																				0.647	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		40	93	0	0	0	0.00623	0	40	93				
FAM46B	115572	broad.mit.edu	37	1	27333018	27333018	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:27333018C>A	ENST00000289166.5	-	2	860	c.695G>T	c.(694-696)tGc>tTc	p.C232F		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	232										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AGTGGACGAGCACTGGCCAAA	0.582																																							uc010ofj.1		NA																	0				central_nervous_system(1)	1						c.(694-696)TGC>TTC		hypothetical protein LOC115572							82.0	87.0	85.0					1																	27333018		2203	4300	6503	SO:0001583	missense	115572							g.chr1:27333018C>A	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.695G>T	1.37:g.27333018C>A	ENSP00000289166:p.Cys232Phe						p.C232F	NM_052943	NP_443175	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	867	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	232						Missense_Mutation	SNP	ENST00000289166.5	37	c.695G>T	CCDS294.2	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684666	0.68157	.	.	ENSG00000158246	ENST00000289166	T	0.23950	1.88	5.2	5.2	0.72013	Domain of unknown function DUF1693 (1);	0.516712	0.24048	N	0.042025	T	0.58395	0.2119	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60984	-0.7154	10	0.44086	T	0.13	-13.5937	18.9114	0.92487	0.0:1.0:0.0:0.0	.	232	Q96A09	FA46B_HUMAN	F	232	ENSP00000289166:C232F	ENSP00000289166:C232F	C	-	2	0	FAM46B	27205605	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.647000	0.83462	2.698000	0.92095	0.561000	0.74099	TGC		0.582	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		17	37	1	0	0.000566183	0.00499	0.000606278	17	37				
C1orf94	84970	broad.mit.edu	37	1	34684349	34684349	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:34684349G>T	ENST00000488417.1	+	7	1904	c.1784G>T	c.(1783-1785)gGc>gTc	p.G595V	C1orf94_ENST00000373374.3_Missense_Mutation_p.G405V	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	595										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGTGGGAATGGCATAAACTTT	0.507																																							uc001bxs.3		NA																	0					0						c.(1213-1215)GGC>GTC		hypothetical protein LOC84970 isoform b							132.0	127.0	129.0					1																	34684349		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34684349G>T	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1784G>T	1.37:g.34684349G>T	ENSP00000435634:p.Gly595Val					C1orf94_uc001bxt.2_Missense_Mutation_p.G595V	p.G405V	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			7	1613	+		Myeloproliferative disorder(586;0.0393)	405					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.1214G>T	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623742	0.66901	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.31510	1.56;1.49	5.32	5.32	0.75619	.	0.095663	0.46145	D	0.000316	T	0.54791	0.1880	M	0.70595	2.14	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.57510	-0.7799	10	0.72032	D	0.01	-17.3738	14.5004	0.67716	0.0:0.0:1.0:0.0	.	595	Q6P1W5	CA094_HUMAN	V	405;595	ENSP00000362472:G405V;ENSP00000435634:G595V	ENSP00000362472:G405V	G	+	2	0	C1orf94	34456936	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.204000	0.65180	2.487000	0.83934	0.655000	0.94253	GGC		0.507	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		23	41	1	0	7.88262e-20	0.00333	1.18835e-19	23	41				
DLGAP3	58512	broad.mit.edu	37	1	35370615	35370615	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:35370615G>T	ENST00000373347.1	-	3	638	c.370C>A	c.(370-372)Cag>Aag	p.Q124K	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Missense_Mutation_p.Q124K			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	124					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TTTTCAAACTGATCCAGGAGT	0.642																																							uc001byc.2		NA																	0				ovary(3)	3						c.(370-372)CAG>AAG		discs, large (Drosophila) homolog-associated							27.0	24.0	25.0					1																	35370615		2202	4300	6502	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370615G>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.370C>A	1.37:g.35370615G>T	ENSP00000362444:p.Gln124Lys						p.Q124K	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			1	370	-		Myeloproliferative disorder(586;0.0393)	124					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.370C>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863401	0.71949	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.33216	1.42;1.42	4.47	4.47	0.54385	.	0.061454	0.64402	D	0.000003	T	0.35128	0.0921	L	0.54965	1.715	0.80722	D	1	P	0.51791	0.948	B	0.43701	0.428	T	0.36383	-0.9750	10	0.59425	D	0.04	-10.9517	17.4894	0.87699	0.0:0.0:1.0:0.0	.	124	O95886	DLGP3_HUMAN	K	124	ENSP00000362444:Q124K;ENSP00000235180:Q124K	ENSP00000235180:Q124K	Q	-	1	0	DLGAP3	35143202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.716000	0.98752	2.203000	0.70933	0.448000	0.29417	CAG		0.642	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		9	13	1	0	2.17888e-05	0.006214	2.44328e-05	9	13				
MACF1	23499	broad.mit.edu	37	1	39910339	39910339	+	Silent	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:39910339C>G	ENST00000372915.3	+	79	19221	c.19134C>G	c.(19132-19134)ctC>ctG	p.L6378L	MACF1_ENST00000289893.4_Silent_p.L4922L|MACF1_ENST00000564288.1_Silent_p.L6479L|MACF1_ENST00000545844.1_Silent_p.L4420L|MACF1_ENST00000539005.1_Silent_p.L4290L|MACF1_ENST00000361689.2_Silent_p.L4420L|MACF1_ENST00000567887.1_Silent_p.L6516L|MACF1_ENST00000317713.7_Silent_p.L4420L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6378					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTAGGAACTCTATTCCCAGC	0.448																																							uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(14764-14766)CTC>CTG		microfilament and actin filament cross-linker							66.0	63.0	64.0					1																	39910339		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39910339C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19134C>G	1.37:g.39910339C>G						MACF1_uc010ois.1_Silent_p.L4420L	p.L4922L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		45	14897	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.14766C>G		.	.	.	.	.	.	.	.	.	.	C	8.934	0.964148	0.18583	.	.	ENSG00000127603	ENST00000372925	T	0.44881	0.91	6.16	-3.89	0.04193	.	0.000000	0.52532	D	0.000062	T	0.33818	0.0876	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13522	-1.0506	7	0.19590	T	0.45	.	10.2944	0.43616	0.0778:0.2267:0.5809:0.1146	.	.	.	.	V	3424	ENSP00000362016:L3424V	ENSP00000362016:L3424V	L	+	1	2	MACF1	39682926	0.002000	0.14202	0.948000	0.38648	0.998000	0.95712	-1.707000	0.01893	-0.626000	0.05596	0.650000	0.86243	CTA		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		24	48	0	0	0	0.00278	0	24	48				
LRRC41	10489	broad.mit.edu	37	1	46745195	46745195	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:46745195C>T	ENST00000343304.6	-	8	2397	c.2112G>A	c.(2110-2112)ctG>ctA	p.L704L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	704					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGAGGCCCTTCAGTGTGGAGT	0.572																																							uc001cpn.2		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(2110-2112)CTG>CTA		MUF1 protein							90.0	103.0	99.0					1																	46745195		2203	4300	6503	SO:0001819	synonymous_variant	10489							g.chr1:46745195C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2112G>A	1.37:g.46745195C>T						LRRC41_uc010omb.1_Silent_p.L704L	p.L704L	NM_006369	NP_006360	Q15345	LRC41_HUMAN			8	2156	-	Acute lymphoblastic leukemia(166;0.155)		704			LRR 6.		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	ENST00000343304.6	37	c.2112G>A	CCDS533.1																																																																																				0.572	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		18	184	0	0	0	0.007413	0	18	184				
USP24	23358	broad.mit.edu	37	1	55622646	55622646	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:55622646T>A	ENST00000294383.6	-	12	1420	c.1421A>T	c.(1420-1422)gAa>gTa	p.E474V	USP24_ENST00000407756.1_Missense_Mutation_p.E362V	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	474					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTAGTGAGTTCATCTAACGA	0.373																																							uc001cyg.3		NA																	0				ovary(6)|kidney(6)|breast(1)	13						c.(1084-1086)GAA>GTA		ubiquitin specific protease 24							178.0	173.0	175.0					1																	55622646		1841	4094	5935	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55622646T>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1421A>T	1.37:g.55622646T>A	ENSP00000294383:p.Glu474Val						p.E362V	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			11	1085	-			474					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.1085A>T	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	T	27.4	4.827668	0.90955	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.79749	-0.11;-1.3	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.54323	1.7	0.58432	D	0.999993	D	0.57899	0.981	D	0.69824	0.966	D	0.88324	0.2964	10	0.72032	D	0.01	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	362	B7WPF4	.	V	474;362	ENSP00000294383:E474V;ENSP00000385700:E362V	ENSP00000294383:E474V	E	-	2	0	USP24	55395234	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.015000	0.88690	2.304000	0.77564	0.528000	0.53228	GAA		0.373	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			44	82	0	0	0	0.002522	0	44	82				
LRRC8D	55144	broad.mit.edu	37	1	90400577	90400577	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:90400577C>T	ENST00000337338.5	+	3	2357	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	LRRC8D_ENST00000394593.3_Silent_p.I650I	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	650					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TAGAGAGAATCCCACATGCTA	0.393																																							uc001dnm.2		NA																	0				ovary(2)	2						c.(1948-1950)ATC>ATT		leucine rich repeat containing 8 family, member							68.0	68.0	68.0					1																	90400577		2203	4300	6503	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90400577C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1950C>T	1.37:g.90400577C>T						LRRC8D_uc001dnn.2_Silent_p.I650I	p.I650I	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2375	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	650			LRR 6.		D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.1950C>T	CCDS726.1																																																																																				0.393	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		21	70	0	0	0	0.010504	0	21	70				
COL11A1	1301	broad.mit.edu	37	1	103463870	103463870	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:103463870G>A	ENST00000370096.3	-	25	2504	c.2192C>T	c.(2191-2193)cCt>cTt	p.P731L	COL11A1_ENST00000512756.1_Missense_Mutation_p.P615L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P692L|COL11A1_ENST00000358392.2_Missense_Mutation_p.P743L|COL11A1_ENST00000461720.1_5'Flank	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	731	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)		ACTTACAGGAGGCCCATCAGC	0.299																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2191-2193)CCT>CTT		alpha 1 type XI collagen isoform A							36.0	39.0	38.0					1																	103463870		2202	4299	6501	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.chr1:103463870G>A	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.2192C>T	1.37:g.103463870G>A	ENSP00000359114:p.Pro731Leu					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.P743L|COL11A1_uc001dun.2_Missense_Mutation_p.P692L|COL11A1_uc009weh.2_Missense_Mutation_p.P615L	p.P731L	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	25	2510	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	731			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2192C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498913	0.85069	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	N	0.12853	0.265	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.998;0.999;0.996	D	0.96651	0.9481	10	0.54805	T	0.06	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	615;692;743;731	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	L	731;743;692;615	ENSP00000359114:P731L;ENSP00000351163:P743L;ENSP00000302551:P692L;ENSP00000426533:P615L	ENSP00000302551:P692L	P	-	2	0	COL11A1	103236458	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.291000	0.78721	2.564000	0.86499	0.467000	0.42956	CCT		0.299	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		6	10	0	0	0	0.006214	0	6	10				
AKNAD1	254268	broad.mit.edu	37	1	109369848	109369848	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:109369848G>T	ENST00000370001.3	-	11	2183	c.1915C>A	c.(1915-1917)Cca>Aca	p.P639T	AKNAD1_ENST00000369995.3_Missense_Mutation_p.P639T|AKNAD1_ENST00000369994.1_Missense_Mutation_p.P609T|AKNAD1_ENST00000357393.4_Missense_Mutation_p.P346T	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	639						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCTGAGTGTGGTGCCTTTTCA	0.483																																							uc001dwa.2		NA																	0				ovary(3)	3						c.(1915-1917)CCA>ACA		hypothetical protein LOC254268							265.0	265.0	265.0					1																	109369848		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369848G>T	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1915C>A	1.37:g.109369848G>T	ENSP00000359018:p.Pro639Thr					AKNAD1_uc010ovb.1_Missense_Mutation_p.P346T|AKNAD1_uc001dwb.2_RNA	p.P639T	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			11	2184	-			639					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1915C>A	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	9.233	1.036443	0.19669	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.0	0.463	0.16700	.	1.113020	0.06993	N	0.821946	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	B;B	0.19817	0.023;0.039	B;B	0.21360	0.021;0.034	T	0.43637	-0.9379	10	0.56958	D	0.05	4.0358	2.6132	0.04897	0.1077:0.348:0.3662:0.1782	.	346;639	B4DET8;Q5T1N1	.;AKND1_HUMAN	T	639;346;609;639	ENSP00000359018:P639T;ENSP00000349968:P346T;ENSP00000359011:P609T;ENSP00000359012:P639T	ENSP00000349968:P346T	P	-	1	0	AKNAD1	109171371	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.005000	0.13129	0.312000	0.23038	-0.305000	0.09177	CCA		0.483	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		79	65	1	0	3.73172e-31	0.00361	6.10533e-31	79	65				
HSD3B1	3283	broad.mit.edu	37	1	120054195	120054195	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:120054195C>A	ENST00000369413.3	+	3	360	c.215C>A	c.(214-216)gCc>gAc	p.A72D	HSD3B1_ENST00000528909.1_Missense_Mutation_p.A72D|HSD3B1_ENST00000235547.6_Missense_Mutation_p.A74D			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	72					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CTGAAGAGAGCCTGCCAGGAC	0.488																																							uc001ehv.1		NA																	0				ovary(2)	2						c.(214-216)GCC>GAC		3 beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)|Trilostane(DB01108)						102.0	96.0	98.0					1																	120054195		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120054195C>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.215C>A	1.37:g.120054195C>A	ENSP00000358421:p.Ala72Asp					HSD3B1_uc001ehw.2_Missense_Mutation_p.A74D	p.A72D	NM_000862	NP_000853	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	3	360	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	72					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.215C>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819696	0.32145	.	.	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	3.11	3.11	0.35812	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.259719	0.36740	N	0.002423	D	0.95567	0.8559	H	0.94183	3.505	0.40488	D	0.980515	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.96114	0.9079	10	0.87932	D	0	-24.7968	11.6808	0.51457	0.0:1.0:0.0:0.0	.	74;72	Q5TDG2;P14060	.;3BHS1_HUMAN	D	72;72;74;72	ENSP00000435999:A72D;ENSP00000358421:A72D;ENSP00000235547:A74D;ENSP00000432268:A72D	ENSP00000235547:A74D	A	+	2	0	HSD3B1	119855718	1.000000	0.71417	0.827000	0.32855	0.071000	0.16799	2.843000	0.48238	1.560000	0.49568	0.313000	0.20887	GCC		0.488	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		27	56	1	0	1.26454e-06	0.005443	1.47431e-06	27	56				
PHGDH	26227	broad.mit.edu	37	1	120285605	120285605	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:120285605A>G	ENST00000369409.4	+	11	1521	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369407.3_Missense_Mutation_p.D428G	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	462					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CTCCGCAGGGACCTGCCCCTG	0.622																																							uc001ehz.2		NA																	0				ovary(1)	1						c.(1384-1386)GAC>GGC		phosphoglycerate dehydrogenase	NADH(DB00157)						86.0	93.0	91.0					1																	120285605		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120285605A>G	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1385A>G	1.37:g.120285605A>G	ENSP00000358417:p.Asp462Gly					PHGDH_uc009whm.2_Missense_Mutation_p.D360G|PHGDH_uc001eia.2_Missense_Mutation_p.D461G|PHGDH_uc009whn.2_Intron|PHGDH_uc001eib.2_Missense_Mutation_p.D428G|PHGDH_uc001eic.2_RNA	p.D462G	NM_006623	NP_006614	O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	11	1612	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	462					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.1385A>G	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	3.477	-0.106755	0.06924	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.90844	-2.74;-2.74	5.96	2.66	0.31614	.	0.369538	0.28488	N	0.015175	T	0.52092	0.1713	N	0.01267	-0.92	0.09310	N	0.999994	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	0.53788	-0.8389	10	0.20519	T	0.43	-11.3191	8.3273	0.32165	0.2811:0.0:0.7189:0.0	.	428;428;335;462	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	G	462;335;428	ENSP00000358417:D462G;ENSP00000358415:D428G	ENSP00000358415:D428G	D	+	2	0	PHGDH	120087128	0.841000	0.29509	0.992000	0.48379	0.921000	0.55340	1.236000	0.32683	0.854000	0.35336	-0.132000	0.14878	GAC		0.622	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		26	93	0	0	0	0.004656	0	26	93				
TCHHL1	126637	broad.mit.edu	37	1	152058123	152058123	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:152058123C>A	ENST00000368806.1	-	3	2099	c.2035G>T	c.(2035-2037)Gac>Tac	p.D679Y		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	679							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCAGTGAAGTCTTCATCCAGG	0.483																																							uc001ezo.1		NA																	0				ovary(1)|skin(1)	2						c.(2035-2037)GAC>TAC		trichohyalin-like 1							176.0	180.0	179.0					1																	152058123		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058123C>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2035G>T	1.37:g.152058123C>A	ENSP00000357796:p.Asp679Tyr						p.D679Y	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2100	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		679					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2035G>T	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	9.940	1.217238	0.22373	.	.	ENSG00000182898	ENST00000368806	T	0.28255	1.62	4.21	2.25	0.28309	.	1.106060	0.07199	N	0.857047	T	0.20740	0.0499	L	0.47716	1.5	0.09310	N	1	D	0.58620	0.983	P	0.53185	0.72	T	0.13575	-1.0504	10	0.66056	D	0.02	0.2373	5.8607	0.18745	0.0:0.6937:0.1961:0.1102	.	679	Q5QJ38	TCHL1_HUMAN	Y	679	ENSP00000357796:D679Y	ENSP00000357796:D679Y	D	-	1	0	TCHHL1	150324747	0.001000	0.12720	0.002000	0.10522	0.024000	0.10985	0.508000	0.22692	0.323000	0.23307	-0.136000	0.14681	GAC		0.483	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		39	118	1	0	7.04047e-22	0.005524	1.08432e-21	39	118				
FLG	2312	broad.mit.edu	37	1	152280365	152280365	+	Missense_Mutation	SNP	G	G	T	rs367612665		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:152280365G>T	ENST00000368799.1	-	3	7032	c.6997C>A	c.(6997-6999)Cac>Aac	p.H2333N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2333	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H2333N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGTGGGATCCGTGT	0.552									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6997-6999)CAC>AAC		filaggrin							244.0	338.0	306.0					1																	152280365		2203	4297	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280365G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6997C>A	1.37:g.152280365G>T	ENSP00000357789:p.His2333Asn						p.H2333N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7033	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2333			Ser-rich.|Filaggrin 14.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6997C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.150	0.213178	0.09757	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01998	4.51	3.48	2.54	0.30619	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	B	0.30211	0.273	B	0.28011	0.085	T	0.43163	-0.9408	9	0.19590	T	0.45	.	8.8373	0.35119	0.0:0.2308:0.7692:0.0	.	2333	P20930	FILA_HUMAN	N	2333;243	ENSP00000357789:H2333N	ENSP00000271820:H243N	H	-	1	0	FLG	150546989	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.449000	0.06812	1.021000	0.39600	0.430000	0.28490	CAC		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		140	503	1	0	6.47883e-55	0.00361	1.11481e-54	140	503				
FLG2	388698	broad.mit.edu	37	1	152326424	152326424	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:152326424C>T	ENST00000388718.5	-	3	3910	c.3838G>A	c.(3838-3840)Gtg>Atg	p.V1280M	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1280	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGAGTGCACTTCACTGTCA	0.478																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(3838-3840)GTG>ATG		filaggrin family member 2							417.0	375.0	389.0					1																	152326424		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326424C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3838G>A	1.37:g.152326424C>T	ENSP00000373370:p.Val1280Met					uc001ezv.2_Intron	p.V1280M	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3911	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1280			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3838G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	9.428	1.084895	0.20390	.	.	ENSG00000143520	ENST00000388718	T	0.03860	3.78	2.48	0.218	0.15270	.	.	.	.	.	T	0.00936	0.0031	N	0.22421	0.69	0.09310	N	1	P	0.43094	0.799	B	0.35813	0.211	T	0.48068	-0.9067	9	0.49607	T	0.09	1.6343	4.1597	0.10278	0.0:0.4644:0.0:0.5356	.	1280	Q5D862	FILA2_HUMAN	M	1280	ENSP00000373370:V1280M	ENSP00000373370:V1280M	V	-	1	0	FLG2	150593048	0.000000	0.05858	0.000000	0.03702	0.371000	0.29859	-0.556000	0.05992	0.052000	0.16007	0.196000	0.17591	GTG		0.478	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		61	182	0	0	0	0.00361	0	61	182				
CADM3	57863	broad.mit.edu	37	1	159161822	159161822	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:159161822G>C	ENST00000368125.4	+	2	342	c.185G>C	c.(184-186)tGg>tCg	p.W62S	CADM3_ENST00000368124.4_Missense_Mutation_p.W96S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	62	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCCCTGCAATGGTCTAACCCT	0.522																																							uc001ftl.2		NA																	0				ovary(2)	2						c.(184-186)TGG>TCG		cell adhesion molecule 3 isoform 2							123.0	93.0	103.0					1																	159161822		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159161822G>C	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.185G>C	1.37:g.159161822G>C	ENSP00000357107:p.Trp62Ser					CADM3_uc009wsx.1_Missense_Mutation_p.W96S|CADM3_uc009wsy.1_Missense_Mutation_p.W62S|CADM3_uc001ftk.2_Missense_Mutation_p.W96S	p.W62S	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			2	327	+	all_hematologic(112;0.0429)		62			Ig-like V-type.|Extracellular (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.185G>C	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786714	0.70337	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	D;D;D	0.94376	-3.41;-3.41;-3.41	4.97	4.97	0.65823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220338	0.32343	N	0.006231	D	0.97250	0.9101	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.923;1.0;0.999	D	0.97922	1.0315	10	0.87932	D	0	.	15.7761	0.78220	0.0:0.0:1.0:0.0	.	62;62;96	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	S	96;62;62	ENSP00000357106:W96S;ENSP00000357107:W62S;ENSP00000387802:W62S	ENSP00000357106:W96S	W	+	2	0	CADM3	157428446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.237000	0.78164	2.583000	0.87209	0.655000	0.94253	TGG		0.522	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		8	39	0	0	0	0.00308	0	8	39				
OR10J1	26476	broad.mit.edu	37	1	159409813	159409813	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:159409813C>A	ENST00000423932.3	+	1	302	c.265C>A	c.(265-267)Ctc>Atc	p.L89I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	89					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATTGGTCATTCTCCCAAGAAT	0.458																																							uc010piv.1		NA																	0				ovary(1)	1						c.(265-267)CTC>ATC		olfactory receptor, family 10, subfamily J,							116.0	104.0	108.0					1																	159409813		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409813C>A	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.265C>A	1.37:g.159409813C>A	ENSP00000399078:p.Leu89Ile					uc001fts.3_Intron	p.L89I	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	265	+	all_hematologic(112;0.0429)		89			Extracellular (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.265C>A	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	0.300	-0.974238	0.02215	.	.	ENSG00000196184	ENST00000423932	T	0.01787	4.64	3.85	0.364	0.16124	GPCR, rhodopsin-like superfamily (1);	1.752890	0.04110	N	0.314367	T	0.00271	0.0008	N	0.04260	-0.245	0.19300	N	0.999971	B	0.06786	0.001	B	0.06405	0.002	T	0.40496	-0.9560	10	0.08179	T	0.78	.	1.7531	0.02976	0.3701:0.339:0.1808:0.1101	.	89	P30954	O10J1_HUMAN	I	89	ENSP00000399078:L89I	ENSP00000399078:L89I	L	+	1	0	OR10J1	157676437	0.000000	0.05858	0.993000	0.49108	0.980000	0.70556	-2.978000	0.00664	0.317000	0.23160	0.655000	0.94253	CTC		0.458	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		14	66	1	0	9.31168e-06	0.001855	1.06085e-05	14	66				
ATP1A2	477	broad.mit.edu	37	1	160105660	160105660	+	Silent	SNP	C	C	A	rs200295014		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:160105660C>A	ENST00000361216.3	+	17	2405	c.2316C>A	c.(2314-2316)tcC>tcA	p.S772S	ATP1A2_ENST00000392233.3_Silent_p.S772S	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	772					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGAAGAAATCCATCGCCTACA	0.567																																							uc001fvc.2		NA																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(2314-2316)TCC>TCA		Na+/K+ -ATPase alpha 2 subunit proprotein							163.0	141.0	148.0					1																	160105660		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160105660C>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2316C>A	1.37:g.160105660C>A						ATP1A2_uc001fvb.2_Silent_p.S772S|ATP1A2_uc001fvd.2_Silent_p.S508S	p.S772S	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		17	2448	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		772			Helical; (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.2316C>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	9.932	1.215215	0.22373	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	T	0.64472	0.2601	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63897	-0.6533	4	.	.	.	.	16.155	0.81657	0.0:1.0:0.0:0.0	.	.	.	.	Q	483	.	.	P	+	2	0	ATP1A2	158372284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.085000	0.30840	2.401000	0.81631	0.555000	0.69702	CCA		0.567	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		26	104	1	0	1.04121e-07	0.005443	1.2312e-07	26	104				
DCAF8	50717	broad.mit.edu	37	1	160187467	160187467	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:160187467T>C	ENST00000368073.3	-	14	2143	c.1709A>G	c.(1708-1710)gAc>gGc	p.D570G	DCAF8_ENST00000368074.1_Missense_Mutation_p.D570G|DCAF8_ENST00000326837.2_Missense_Mutation_p.D570G|DCAF8_ENST00000556710.1_Missense_Mutation_p.D724G|DCAF8_ENST00000608310.1_Missense_Mutation_p.D724G			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	570					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						AGAGTCCGCGTCTGTGGCCCC	0.587																																							uc001fvo.2		NA																	0				skin(2)	2						c.(1708-1710)GAC>GGC		DDB1 and CUL4 associated factor 8							72.0	72.0	72.0					1																	160187467		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160187467T>C	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1709A>G	1.37:g.160187467T>C	ENSP00000357052:p.Asp570Gly					DCAF8_uc001fvn.2_Missense_Mutation_p.D570G|DCAF8_uc009wth.2_Missense_Mutation_p.D570G|DCAF8_uc010pjb.1_Missense_Mutation_p.D570G|DCAF8_uc010pjc.1_Missense_Mutation_p.D724G	p.D570G	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			14	2021	-			570					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.1709A>G	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096639	0.76870	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.17;-0.17	5.23	5.23	0.72850	.	0.086699	0.43110	U	0.000609	T	0.64204	0.2577	L	0.48362	1.52	0.58432	D	0.999991	D;P	0.60160	0.987;0.941	P;B	0.56398	0.797;0.432	T	0.66284	-0.5962	10	0.45353	T	0.12	-15.1669	14.2346	0.65916	0.0:0.0:0.0:1.0	.	724;570	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	G	570;570;570;724;551;724	ENSP00000357052:D570G;ENSP00000318227:D570G;ENSP00000357053:D570G;ENSP00000451989:D724G;ENSP00000451235:D724G	ENSP00000318227:D570G	D	-	2	0	RP11-574F21.3;DCAF8	158454091	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	4.026000	0.57232	2.197000	0.70478	0.533000	0.62120	GAC		0.587	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		9	53	0	0	0	0.000978	0	9	53				
LY9	4063	broad.mit.edu	37	1	160783461	160783461	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:160783461G>T	ENST00000263285.6	+	3	520	c.490G>T	c.(490-492)Gtg>Ttg	p.V164L	LY9_ENST00000368037.5_Missense_Mutation_p.V164L|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.V124L|LY9_ENST00000392203.4_Missense_Mutation_p.V164L|LY9_ENST00000341032.4_Missense_Mutation_p.V164L|LY9_ENST00000471816.1_3'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATGAAGTCTGTGAAGGTGTC	0.532																																							uc001fwu.2		NA																	0				ovary(1)	1						c.(490-492)GTG>TTG		lymphocyte antigen 9 isoform a							97.0	94.0	95.0					1																	160783461		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160783461G>T	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.490G>T	1.37:g.160783461G>T	ENSP00000263285:p.Val164Leu					LY9_uc010pjs.1_Missense_Mutation_p.V164L|LY9_uc001fwv.2_Missense_Mutation_p.V164L|LY9_uc001fww.2_Missense_Mutation_p.V164L|LY9_uc001fwx.2_Missense_Mutation_p.V164L|LY9_uc001fwy.1_Missense_Mutation_p.V66L|LY9_uc001fwz.2_5'Flank	p.V164L	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	540	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		164			Extracellular (Potential).|Ig-like C2-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.490G>T	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	9.056	0.993261	0.19043	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.02863	4.13;4.13	4.04	-4.3	0.03710	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.418340	0.01673	N	0.025716	T	0.01061	0.0035	N	0.25485	0.75	0.09310	N	0.999994	P;P;B;P;P;P	0.47762	0.779;0.9;0.245;0.636;0.838;0.9	B;P;B;P;B;P	0.45794	0.397;0.493;0.088;0.459;0.294;0.493	T	0.42207	-0.9465	10	0.21540	T	0.41	0.0	10.7928	0.46443	0.776:0.0:0.224:0.0	.	164;124;124;164;164;164	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	L	164;164;164;164;124;124;66	ENSP00000342921:V164L;ENSP00000263285:V164L	ENSP00000263285:V164L	V	+	1	0	LY9	159050085	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.398000	0.02509	-0.944000	0.03686	0.563000	0.77884	GTG		0.532	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		24	69	1	0	6.12954e-19	0.004656	9.07608e-19	24	69				
FCGR2B	2213	broad.mit.edu	37	1	161645092	161645092	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:161645092C>A	ENST00000358671.5	+	6	887	c.806C>A	c.(805-807)cCt>cAt	p.P269H	FCGR2B_ENST00000367960.5_Missense_Mutation_p.P262H|FCGR2B_ENST00000236937.9_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Missense_Mutation_p.P269H|FCGR2B_ENST00000367961.4_Missense_Mutation_p.P262H|RP11-25K21.1_ENST00000453111.1_RNA	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	269					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGACCCTCCCTGAGAAACCA	0.597			T	?	ALL																																		uc001gaz.1		NA		Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0					0						c.(805-807)CCT>CAT		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						20.0	18.0	19.0					1																	161645092		2201	4299	6500	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161645092C>A	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.806C>A	1.37:g.161645092C>A	ENSP00000351497:p.Pro269His					FCGR2B_uc001gay.1_Missense_Mutation_p.P268H|FCGR2B_uc001gba.1_Intron|FCGR2B_uc001gbb.1_Intron|FCGR2B_uc009wun.1_Missense_Mutation_p.P262H	p.P269H	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	898	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		269			Cytoplasmic (Potential).		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.806C>A	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029685	0.54790	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000367961;ENST00000358671	T;T;T;T	0.29397	4.68;1.57;1.57;4.68	5.06	4.14	0.48551	.	3.463400	0.01569	U	0.020501	T	0.36717	0.0977	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.976;0.986	T	0.17623	-1.0363	10	0.49607	T	0.09	.	11.6318	0.51181	0.0:0.9102:0.0:0.0898	.	262;269	P31994-3;P31994	.;FCG2B_HUMAN	H	269;262;262;269	ENSP00000356939:P269H;ENSP00000356937:P262H;ENSP00000356938:P262H;ENSP00000351497:P269H	ENSP00000351497:P269H	P	+	2	0	FCGR2B	159911716	0.013000	0.17824	0.936000	0.37596	0.611000	0.37282	0.769000	0.26604	2.351000	0.79841	0.561000	0.74099	CCT		0.597	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		5	18	1	0	3.59834e-05	0.001168	3.94631e-05	5	18				
TOR3A	64222	broad.mit.edu	37	1	179064300	179064300	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:179064300T>C	ENST00000367627.3	+	6	1893	c.1141T>C	c.(1141-1143)Tct>Cct	p.S381P	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	381					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						ACAACTCTTTTCTTCCCAGGG	0.483																																							uc001gmd.2		NA																	0				pancreas(1)	1						c.(1141-1143)TCT>CCT		torsin family 3, member A precursor							178.0	181.0	180.0					1																	179064300		2203	4300	6503	SO:0001583	missense	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179064300T>C	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.1141T>C	1.37:g.179064300T>C	ENSP00000356599:p.Ser381Pro					TOR3A_uc010pnd.1_Missense_Mutation_p.S165P	p.S381P	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN			6	1293	+			381					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	c.1141T>C	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.086851	0.76642	.	.	ENSG00000186283	ENST00000367627	T	0.71222	-0.55	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.87787	0.6265	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90598	0.4542	10	0.87932	D	0	-18.3564	15.5295	0.75942	0.0:0.0:0.0:1.0	.	381	Q9H497	TOR3A_HUMAN	P	381	ENSP00000356599:S381P	ENSP00000356599:S381P	S	+	1	0	TOR3A	177330923	1.000000	0.71417	0.998000	0.56505	0.384000	0.30261	5.968000	0.70413	2.254000	0.74563	0.533000	0.62120	TCT		0.483	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		80	138	0	0	0	0.00361	0	80	138				
APOBEC4	403314	broad.mit.edu	37	1	183617857	183617857	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:183617857G>T	ENST00000308641.4	-	2	331	c.60C>A	c.(58-60)taC>taA	p.Y20*	RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	20					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						AGCTTAGCCAGTAATATGGTT	0.388																																							uc001gqn.2		NA																	0					0						c.(58-60)TAC>TAA		apolipoprotein B							113.0	102.0	106.0					1																	183617857		2203	4300	6503	SO:0001587	stop_gained	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183617857G>T	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.60C>A	1.37:g.183617857G>T	ENSP00000310622:p.Tyr20*					RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	p.Y20*	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN			2	332	-			20					Q8N7F6	Nonsense_Mutation	SNP	ENST00000308641.4	37	c.60C>A	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622685	0.96660	.	.	ENSG00000173627	ENST00000308641	.	.	.	5.24	4.13	0.48395	.	0.129019	0.33895	N	0.004444	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5414	14.4252	0.67210	0.0852:0.0:0.9148:0.0	.	.	.	.	X	20	.	ENSP00000310622:Y20X	Y	-	3	2	APOBEC4	181884480	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.584000	0.46102	2.452000	0.82932	0.650000	0.86243	TAC		0.388	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		16	49	1	0	2.31682e-05	0.003163	2.58057e-05	16	49				
KCNT2	343450	broad.mit.edu	37	1	196274387	196274387	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:196274387G>T	ENST00000294725.9	-	22	3487	c.2572C>A	c.(2572-2574)Ctt>Att	p.L858I	KCNT2_ENST00000609185.1_Missense_Mutation_p.L784I|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.L784I|KCNT2_ENST00000367433.5_Missense_Mutation_p.L834I			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	858					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAAAGAGCAAGAGAGTAACAG	0.338																																							uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(2572-2574)CTT>ATT		potassium channel, subfamily T, member 2							132.0	122.0	126.0					1																	196274387		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196274387G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2572C>A	1.37:g.196274387G>T	ENSP00000294725:p.Leu858Ile					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L784I|KCNT2_uc001gtf.1_Missense_Mutation_p.L834I|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.L834I|KCNT2_uc001gth.1_Missense_Mutation_p.L355I	p.L858I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			22	2632	-			858			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2572C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479211	0.63849	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.80824	-1.42;-1.42;-1.42	4.56	4.56	0.56223	.	0.122857	0.37053	N	0.002280	D	0.84534	0.5493	M	0.73217	2.22	0.80722	D	1	P;D;D;P;P	0.54047	0.761;0.964;0.964;0.846;0.761	B;P;P;P;B	0.54664	0.288;0.692;0.758;0.482;0.288	D	0.85106	0.0960	10	0.52906	T	0.07	-6.8714	11.3931	0.49825	0.0835:0.0:0.9165:0.0	.	858;816;834;784;858	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	I	834;784;858	ENSP00000356403:L834I;ENSP00000356401:L784I;ENSP00000294725:L858I	ENSP00000294725:L858I	L	-	1	0	KCNT2	194541010	0.994000	0.37717	0.994000	0.49952	0.996000	0.88848	2.230000	0.42999	2.525000	0.85131	0.650000	0.86243	CTT		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		10	43	1	0	2.17888e-05	0.006214	2.44328e-05	10	43				
KCNT2	343450	broad.mit.edu	37	1	196311222	196311222	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:196311222G>T	ENST00000294725.9	-	15	2455	c.1540C>A	c.(1540-1542)Cat>Aat	p.H514N	KCNT2_ENST00000609185.1_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.H125N|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000367433.5_Missense_Mutation_p.H514N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	514	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTGTGTGCATGGAAAGAGGCA	0.333																																							uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(1540-1542)CAT>AAT		potassium channel, subfamily T, member 2							101.0	97.0	98.0					1																	196311222		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196311222G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1540C>A	1.37:g.196311222G>T	ENSP00000294725:p.His514Asn					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Missense_Mutation_p.H514N|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.H514N|KCNT2_uc001gth.1_Missense_Mutation_p.H35N	p.H514N	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			15	1600	-			514			Cytoplasmic (Potential).|RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1540C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482535	0.63962	.	.	ENSG00000162687	ENST00000367433;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T	0.43688	0.94;0.94;0.94	5.87	5.87	0.94306	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.086089	0.50627	D	0.000102	T	0.48003	0.1476	L	0.55743	1.74	0.80722	D	1	B;B;B;B	0.33345	0.409;0.006;0.123;0.409	B;B;B;B	0.40134	0.32;0.021;0.042;0.32	T	0.26087	-1.0113	10	0.27082	T	0.32	-24.1708	20.1991	0.98252	0.0:0.0:1.0:0.0	.	514;496;514;514	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3	.;.;.;KCNT2_HUMAN	N	514;335;125;514	ENSP00000356403:H514N;ENSP00000405474:H125N;ENSP00000294725:H514N	ENSP00000294725:H514N	H	-	1	0	KCNT2	194577845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.935000	0.87658	2.775000	0.95449	0.650000	0.86243	CAT		0.333	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		9	38	1	0	4.68919e-08	0.008291	5.5845e-08	9	38				
KIF21B	23046	broad.mit.edu	37	1	200967643	200967643	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:200967643A>T	ENST00000422435.2	-	14	2262	c.1946T>A	c.(1945-1947)cTg>cAg	p.L649Q	KIF21B_ENST00000332129.2_Missense_Mutation_p.L649Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.L649Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.L649Q	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	649					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCGTCGATCAGCTTCTGCTT	0.562																																							uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(1945-1947)CTG>CAG		kinesin family member 21B							100.0	93.0	95.0					1																	200967643		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200967643A>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1946T>A	1.37:g.200967643A>T	ENSP00000411831:p.Leu649Gln					KIF21B_uc001gvr.1_Missense_Mutation_p.L649Q|KIF21B_uc009wzl.1_Missense_Mutation_p.L649Q|KIF21B_uc010ppn.1_Missense_Mutation_p.L649Q	p.L649Q	NM_017596	NP_060066	O75037	KI21B_HUMAN			14	2263	-			649			Potential.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1946T>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.797092	0.90453	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000003	T	0.72795	0.3505	M	0.87617	2.895	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.997;0.998;0.997;0.999	T	0.78620	-0.2133	10	0.72032	D	0.01	.	15.2977	0.73922	1.0:0.0:0.0:0.0	.	649;649;649;649	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	Q	649	ENSP00000328494:L649Q;ENSP00000353724:L649Q;ENSP00000433808:L649Q;ENSP00000411831:L649Q	ENSP00000328494:L649Q	L	-	2	0	KIF21B	199234266	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.905000	0.92613	2.005000	0.58758	0.529000	0.55759	CTG		0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		8	67	0	0	0	0.004482	0	8	67				
PPP1R12B	4660	broad.mit.edu	37	1	202462440	202462440	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:202462440G>C	ENST00000608999.1	+	15	2293	c.2140G>C	c.(2140-2142)Gaa>Caa	p.E714Q	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.E714Q|PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_5'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	714					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGTCTGGATGAAGAGGTGAG	0.532																																							uc001gya.1		NA																	0				ovary(3)	3						c.(2140-2142)GAA>CAA		protein phosphatase 1, regulatory (inhibitor)							18.0	20.0	19.0					1																	202462440		2203	4299	6502	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202462440G>C	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2140G>C	1.37:g.202462440G>C	ENSP00000476755:p.Glu714Gln					PPP1R12B_uc001gxz.1_Missense_Mutation_p.E714Q|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	p.E714Q	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		15	2284	+			714					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.2140G>C	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457735	0.43634	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	T;T	0.03212	4.01;4.01	5.68	3.81	0.43845	.	0.289920	0.29451	N	0.012116	T	0.09158	0.0226	M	0.80183	2.485	0.29393	N	0.862496	P;B	0.38250	0.624;0.374	B;B	0.43838	0.174;0.433	T	0.01432	-1.1356	10	0.48119	T	0.1	.	9.2212	0.37377	0.1687:0.0:0.8313:0.0	.	714;714	O60237;F8W8M3	MYPT2_HUMAN;.	Q	714	ENSP00000384496:E714Q;ENSP00000337897:E714Q	ENSP00000337897:E714Q	E	+	1	0	PPP1R12B	200729063	0.643000	0.27269	0.037000	0.18230	0.989000	0.77384	4.263000	0.58853	1.406000	0.46857	-0.136000	0.14681	GAA		0.532	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		5	19	0	0	0	0.000602	0	5	19				
TMEM81	388730	broad.mit.edu	37	1	205053359	205053359	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:205053359G>A	ENST00000367167.3	-	1	286	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	30						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TCTCAGGGATGGCCAGTGTTT	0.517																																							uc001hbt.2		NA																	0					0						c.(88-90)GCC>GCT		transmembrane protein 81 precursor							123.0	105.0	111.0					1																	205053359		2203	4300	6503	SO:0001819	synonymous_variant	388730					integral to membrane		g.chr1:205053359G>A	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.90C>T	1.37:g.205053359G>A							p.A30A	NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	230	-	all_cancers(21;0.144)|Breast(84;0.0437)		30					Q6UVZ4	Silent	SNP	ENST00000367167.3	37	c.90C>T	CCDS1450.1																																																																																				0.517	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		13	60	0	0	0	0.00245	0	13	60				
CENPF	1063	broad.mit.edu	37	1	214818013	214818013	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:214818013G>T	ENST00000366955.3	+	13	5268	c.5100G>T	c.(5098-5100)caG>caT	p.Q1700H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1796					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATGCTCAGCAGGACCTCAATC	0.423																																					Colon(80;575 1284 11000 14801 43496)	Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NA																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(5098-5100)CAG>CAT		centromere protein F							73.0	71.0	72.0					1																	214818013		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818013G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5100G>T	1.37:g.214818013G>T	ENSP00000355922:p.Gln1700His						p.Q1700H	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	5274	+			1796					Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.5100G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432275	0.62844	.	.	ENSG00000117724	ENST00000366955	T	0.03468	3.92	5.04	-0.183	0.13284	.	0.000000	0.36134	N	0.002771	T	0.09992	0.0245	M	0.70595	2.14	0.09310	N	0.999999	D	0.76494	0.999	D	0.65573	0.936	T	0.08452	-1.0721	10	0.52906	T	0.07	.	3.4924	0.07642	0.4419:0.0:0.3801:0.178	.	1796	P49454	CENPF_HUMAN	H	1700	ENSP00000355922:Q1700H	ENSP00000355922:Q1700H	Q	+	3	2	CENPF	212884636	0.002000	0.14202	0.983000	0.44433	0.488000	0.33401	-0.119000	0.10676	0.316000	0.23135	0.609000	0.83330	CAG		0.423	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		17	53	1	0	1.45105e-14	0.006122	2.02822e-14	17	53				
CENPF	1063	broad.mit.edu	37	1	214830292	214830292	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:214830292C>T	ENST00000366955.3	+	18	8670	c.8502C>T	c.(8500-8502)acC>acT	p.T2834T		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2930	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTATGGATACCAAGGTCGATG	0.388																																					Colon(80;575 1284 11000 14801 43496)	Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NA																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(8500-8502)ACC>ACT		centromere protein F							67.0	66.0	66.0					1																	214830292		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214830292C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8502C>T	1.37:g.214830292C>T							p.T2834T	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	18	8676	+			2930			Potential.|Sufficient for nuclear localization.|Sufficient for centromere localization.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.8502C>T	CCDS31023.1																																																																																				0.388	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		12	50	0	0	0	0.000978	0	12	50				
SPATA17	128153	broad.mit.edu	37	1	217955640	217955640	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:217955640G>T	ENST00000366933.4	+	8	903	c.848G>T	c.(847-849)tGg>tTg	p.W283L	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	283						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAGAGGAATGGCTGCAAAAT	0.383																																							uc001hlh.1		NA																	0				pancreas(1)	1						c.(847-849)TGG>TTG		spermatogenesis associated 17							90.0	95.0	93.0					1																	217955640		2203	4300	6503	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217955640G>T	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.848G>T	1.37:g.217955640G>T	ENSP00000355900:p.Trp283Leu					SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.W283L	p.W283L	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	8	874	+			283					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.848G>T	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121352	0.37436	.	.	ENSG00000162814	ENST00000366933	T	0.46063	0.88	4.73	2.82	0.32997	.	0.357112	0.27891	N	0.017425	T	0.41834	0.1176	M	0.78637	2.42	0.29748	N	0.836559	B	0.29508	0.246	B	0.26094	0.066	T	0.45906	-0.9229	10	0.62326	D	0.03	-10.6486	9.4018	0.38437	0.076:0.0:0.7803:0.1437	.	283	Q96L03	SPT17_HUMAN	L	283	ENSP00000355900:W283L	ENSP00000355900:W283L	W	+	2	0	SPATA17	216022263	1.000000	0.71417	0.000000	0.03702	0.008000	0.06430	3.218000	0.51192	0.508000	0.28173	0.650000	0.86243	TGG		0.383	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		14	37	1	0	1.3612e-06	0.003163	1.58331e-06	14	37				
SIPA1L2	57568	broad.mit.edu	37	1	232596659	232596659	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:232596659C>A	ENST00000366630.1	-	9	3427	c.3069G>T	c.(3067-3069)caG>caT	p.Q1023H	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.Q97H|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.Q1023H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1023	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CATCATGGGGCTGGATGATGA	0.587																																							uc001hvg.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(3067-3069)CAG>CAT		signal-induced proliferation-associated 1 like							33.0	34.0	33.0					1																	232596659		2203	4300	6503	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232596659C>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3069G>T	1.37:g.232596659C>A	ENSP00000355589:p.Gln1023His					SIPA1L2_uc001hvf.2_Missense_Mutation_p.Q97H	p.Q1023H	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			8	3227	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1023			PDZ.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3069G>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781677	0.49891	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.66995	-0.24;-0.24;-0.24	5.64	4.67	0.58626	PDZ/DHR/GLGF (3);	0.060299	0.64402	D	0.000002	T	0.48519	0.1504	N	0.19112	0.55	0.54753	D	0.999988	B;B	0.06786	0.001;0.001	B;B	0.12156	0.003;0.007	T	0.49908	-0.8889	10	0.87932	D	0	-21.643	7.1843	0.25791	0.0:0.7103:0.1463:0.1434	.	1023;97	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	H	1023;1023;97	ENSP00000355589:Q1023H;ENSP00000262861:Q1023H;ENSP00000309102:Q97H	ENSP00000262861:Q1023H	Q	-	3	2	SIPA1L2	230663282	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	0.961000	0.29267	2.816000	0.96949	0.563000	0.77884	CAG		0.587	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		14	23	1	0	2.32078e-09	0.003163	2.85239e-09	14	23				
RYR2	6262	broad.mit.edu	37	1	237843796	237843796	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:237843796G>C	ENST00000366574.2	+	62	9253	c.8936G>C	c.(8935-8937)cGt>cCt	p.R2979P	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R2977P|RYR2_ENST00000542537.1_Missense_Mutation_p.R2963P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2979					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAAACCATCGTTTATACTTC	0.388																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8935-8937)CGT>CCT		cardiac muscle ryanodine receptor							137.0	116.0	122.0					1																	237843796		1852	4106	5958	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237843796G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8936G>C	1.37:g.237843796G>C	ENSP00000355533:p.Arg2979Pro					RYR2_uc010pxz.1_5'UTR	p.R2979P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		62	9056	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2979			Modulator (Potential).|Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8936G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829789	0.71258	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;D	0.96885	-0.2;-4.13;-4.16	5.84	5.84	0.93424	.	0.096098	0.45867	D	0.000339	D	0.94545	0.8243	L	0.49778	1.585	0.80722	D	1	P	0.49307	0.922	B	0.38954	0.286	D	0.94241	0.7485	10	0.46703	T	0.11	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	2979	Q92736	RYR2_HUMAN	P	2979;2977;2963	ENSP00000355533:R2979P;ENSP00000353174:R2977P;ENSP00000443798:R2963P	ENSP00000353174:R2977P	R	+	2	0	RYR2	235910419	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.956000	0.87863	2.760000	0.94817	0.655000	0.94253	CGT		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		2	6	0	0	0	0.004672	0	2	6				
CHRM3	1131	broad.mit.edu	37	1	240071510	240071510	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:240071510G>T	ENST00000255380.4	+	5	1538	c.759G>T	c.(757-759)agG>agT	p.R253S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	253					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TATACTGGAGGATCTATAAGG	0.473																																							uc001hyp.2		NA																	0				ovary(4)|skin(1)	5						c.(757-759)AGG>AGT		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						54.0	60.0	58.0					1																	240071510		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071510G>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.759G>T	1.37:g.240071510G>T	ENSP00000255380:p.Arg253Ser						p.R253S	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1538	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	253			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.759G>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723285	0.48728	.	.	ENSG00000133019	ENST00000255380	T	0.38560	1.13	6.06	2.13	0.27403	GPCR, rhodopsin-like superfamily (1);	0.046961	0.85682	D	0.000000	T	0.59032	0.2164	M	0.71871	2.18	0.58432	D	0.99999	D	0.89917	1.0	D	0.77557	0.99	T	0.58025	-0.7709	10	0.87932	D	0	-28.4155	9.7817	0.40651	0.3191:0.0:0.6809:0.0	.	253	P20309	ACM3_HUMAN	S	253	ENSP00000255380:R253S	ENSP00000255380:R253S	R	+	3	2	CHRM3	238138133	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.539000	0.23175	0.148000	0.19059	-0.143000	0.13931	AGG		0.473	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		11	59	1	0	3.07112e-06	0.000978	3.53108e-06	11	59				
FMN2	56776	broad.mit.edu	37	1	240351543	240351543	+	Missense_Mutation	SNP	G	G	C	rs371725737	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:240351543G>C	ENST00000319653.9	+	4	2197	c.1967G>C	c.(1966-1968)cGc>cCc	p.R656P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	656					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCAAAAACGCTCAGATGCT	0.378																																							uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1966-1968)CGC>CCC		formin 2							146.0	140.0	142.0					1																	240351543		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240351543G>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1967G>C	1.37:g.240351543G>C	ENSP00000318884:p.Arg656Pro					FMN2_uc010pye.1_Missense_Mutation_p.R660P	p.R656P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		4	2192	+	Ovarian(103;0.127)	all_cancers(173;0.013)	656					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1967G>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	0.370	-0.934307	0.02340	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.79653	-1.29;-1.29	4.87	2.94	0.34122	.	0.452882	0.22316	N	0.061662	T	0.61813	0.2377	N	0.14661	0.345	0.09310	N	0.999999	B	0.20550	0.046	B	0.21151	0.033	T	0.48317	-0.9046	10	0.28530	T	0.3	.	6.7675	0.23575	0.0958:0.1781:0.7261:0.0	.	656	Q9NZ56	FMN2_HUMAN	P	93;656	ENSP00000409308:R93P;ENSP00000318884:R656P	ENSP00000318884:R656P	R	+	2	0	FMN2	238418166	0.069000	0.21087	0.014000	0.15608	0.001000	0.01503	1.700000	0.37815	0.727000	0.32360	0.561000	0.74099	CGC		0.378	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		18	58	0	0	0	0.010504	0	18	58				
CEP170	9859	broad.mit.edu	37	1	243327830	243327830	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:243327830G>T	ENST00000366542.1	-	13	3483	c.3432C>A	c.(3430-3432)atC>atA	p.I1144I	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Silent_p.I1046I|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Silent_p.I1046I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1144	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAATCCGAGAGATGTTACGCC	0.453																																							uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(3430-3432)ATC>ATA		centrosomal protein 170kDa isoform alpha							20.0	19.0	19.0					1																	243327830		1821	4049	5870	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243327830G>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3432C>A	1.37:g.243327830G>T						CEP170_uc001hzt.2_Silent_p.I1046I|CEP170_uc001hzu.2_Silent_p.I1046I|CEP170_uc001hzv.1_Silent_p.I522I	p.I1144I	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3840	-	all_neural(11;0.101)	all_cancers(173;0.003)	1144			Targeting to microtubules.|Targeting to centrosomes.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.3432C>A	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	G	4.774	0.143869	0.09134	.	.	ENSG00000143702	ENST00000336415	.	.	.	4.6	1.26	0.21427	.	.	.	.	.	T	0.51176	0.1659	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34601	-0.9822	4	.	.	.	-2.5124	5.0149	0.14331	0.2832:0.0:0.5726:0.1441	.	.	.	.	Y	1108	.	.	S	-	2	0	CEP170	241394453	0.993000	0.37304	0.952000	0.39060	0.996000	0.88848	0.269000	0.18589	0.019000	0.15079	0.555000	0.69702	TCT		0.453	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		5	30	1	0	0.00307968	0.00308	0.00319493	5	30				
ZNF496	84838	broad.mit.edu	37	1	247492753	247492753	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:247492753C>A	ENST00000294753.4	-	3	592	c.128G>T	c.(127-129)cGt>cTt	p.R43L	ZNF496_ENST00000366498.2_Missense_Mutation_p.R43L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	43	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCGGAAGAGACGCCGAGAGGA	0.697																																							uc001ico.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(127-129)CGT>CTT		zinc finger protein 496							25.0	33.0	31.0					1																	247492753		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492753C>A	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.128G>T	1.37:g.247492753C>A	ENSP00000294753:p.Arg43Leu					ZNF496_uc009xgv.2_Missense_Mutation_p.R43L|ZNF496_uc001icp.2_Missense_Mutation_p.R43L|ZNF496_uc010pyv.1_Missense_Mutation_p.R43L	p.R43L	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	593	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		43			SCAN box.		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.128G>T	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855965	0.71834	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.04970	3.52;3.52	4.27	4.27	0.50696	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.45867	D	0.000323	T	0.10594	0.0259	N	0.13043	0.29	0.36877	D	0.889229	D;D	0.76494	0.996;0.999	D;D	0.79108	0.992;0.986	T	0.41179	-0.9523	9	.	.	.	-37.8907	12.4001	0.55407	0.0:1.0:0.0:0.0	.	43;43	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	L	43	ENSP00000294753:R43L;ENSP00000355454:R43L	.	R	-	2	0	ZNF496	245559376	0.908000	0.30866	0.904000	0.35570	0.656000	0.38851	1.850000	0.39328	2.382000	0.81193	0.561000	0.74099	CGT		0.697	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		20	41	1	0	5.03518e-11	0.007413	6.47566e-11	20	41				
OR14A16	284532	broad.mit.edu	37	1	247978691	247978691	+	Missense_Mutation	SNP	G	G	T	rs193920961		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:247978691G>T	ENST00000357627.1	-	1	340	c.341C>A	c.(340-342)aCg>aAg	p.T114K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGACATCACCGTGAGGAGGAG	0.478																																					Ovarian(112;180 1586 15073 21914 33526)	Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	0					0						c.(340-342)ACG>AAG		olfactory receptor, family 14, subfamily A,							110.0	104.0	106.0					1																	247978691		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978691G>T	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.341C>A	1.37:g.247978691G>T	ENSP00000350248:p.Thr114Lys						p.T114K	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	341	-			114			Helical; Name=3; (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.341C>A	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403265	0.83230	.	.	ENSG00000196772	ENST00000357627	T	0.01347	4.99	3.51	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.470079	0.17351	U	0.177394	T	0.12944	0.0314	H	0.94925	3.6	0.24566	N	0.993943	D	0.69078	0.997	D	0.73380	0.98	T	0.04635	-1.0937	10	0.87932	D	0	.	15.3604	0.74469	0.0:0.0:1.0:0.0	.	114	Q8NHC5	O14AG_HUMAN	K	114	ENSP00000350248:T114K	ENSP00000350248:T114K	T	-	2	0	OR14A16	246045314	0.000000	0.05858	0.241000	0.24154	0.698000	0.40448	0.252000	0.18278	2.010000	0.58986	0.590000	0.80494	ACG		0.478	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		30	62	1	0	1.16021e-09	0.007291	1.43303e-09	30	62				
OR2L13	284521	broad.mit.edu	37	1	248263154	248263154	+	Silent	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:248263154A>T	ENST00000358120.2	+	2	622	c.477A>T	c.(475-477)acA>acT	p.T159T	OR2L13_ENST00000366478.2_Silent_p.T159T			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGGCACACACAGTCTTTGCCC	0.483																																							uc001ids.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(475-477)ACA>ACT		olfactory receptor, family 2, subfamily L,							252.0	216.0	228.0					1																	248263154		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263154A>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.477A>T	1.37:g.248263154A>T							p.T159T	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	814	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		159			Extracellular (Potential).		Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.477A>T	CCDS1637.1																																																																																				0.483	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		64	139	0	0	0	0.00361	0	64	139				
OR2T12	127064	broad.mit.edu	37	1	248458061	248458061	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:248458061C>T	ENST00000317996.1	-	1	819	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GTATAGAAGGCTGACACAACC	0.483																																							uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(820-822)GCC>ACC		olfactory receptor, family 2, subfamily T,							151.0	149.0	150.0					1																	248458061		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458061C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.820G>A	1.37:g.248458061C>T	ENSP00000324583:p.Ala274Thr						p.A274T	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	820	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		274			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.820G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	8.229	0.804299	0.16467	.	.	ENSG00000177201	ENST00000317996	T	0.00084	8.75	1.71	0.649	0.17806	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33075	U	0.005310	T	0.00109	0.0003	N	0.21508	0.67	0.09310	N	1	B	0.25850	0.136	B	0.37550	0.253	T	0.32134	-0.9918	10	0.59425	D	0.04	.	1.8485	0.03164	0.191:0.4769:0.1893:0.1428	.	274	Q8NG77	O2T12_HUMAN	T	274	ENSP00000324583:A274T	ENSP00000324583:A274T	A	-	1	0	OR2T12	246524684	0.000000	0.05858	0.025000	0.17156	0.035000	0.12851	-1.366000	0.02585	0.754000	0.32968	0.418000	0.28097	GCC		0.483	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		10	142	0	0	0	0.006214	0	10	142				
OR2T1	26696	broad.mit.edu	37	1	248570175	248570175	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:248570175C>G	ENST00000366474.1	+	1	880	c.880C>G	c.(880-882)Cac>Gac	p.H294D		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCTCATCCCACATGACTGT	0.517																																							uc010pzm.1		NA																	0				pancreas(1)	1						c.(880-882)CAC>GAC		olfactory receptor, family 2, subfamily T,							246.0	201.0	216.0					1																	248570175		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570175C>G	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.880C>G	1.37:g.248570175C>G	ENSP00000355430:p.His294Asp						p.H294D	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	880	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		294			Helical; Name=6; (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.880C>G	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	c	15.00	2.702149	0.48307	.	.	ENSG00000175143	ENST00000366474	T	0.00314	8.14	4.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38492	U	0.001678	T	0.00998	0.0033	H	0.98918	4.37	0.50171	D	0.999852	P	0.41131	0.739	P	0.49528	0.614	T	0.05209	-1.0899	10	0.87932	D	0	.	16.4923	0.84205	0.0:1.0:0.0:0.0	.	294	O43869	OR2T1_HUMAN	D	294	ENSP00000355430:H294D	ENSP00000355430:H294D	H	+	1	0	OR2T1	246636798	1.000000	0.71417	0.640000	0.29408	0.083000	0.17756	4.885000	0.63142	2.410000	0.81850	0.655000	0.94253	CAC		0.517	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			14	67	0	0	0	0.00245	0	14	67				
ANKRD16	54522	broad.mit.edu	37	10	5929972	5929972	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:5929972C>T	ENST00000380094.5	-	2	916	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	ANKRD16_ENST00000191063.8_Missense_Mutation_p.E125K|FBXO18_ENST00000397269.3_5'Flank|FBXO18_ENST00000362091.4_5'Flank|ANKRD16_ENST00000380092.4_Missense_Mutation_p.E125K	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	125										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GCGCCATGTTCCACCAGCTCC	0.557																																							uc010qat.1		NA																	0					0						c.(373-375)GAA>AAA		ankyrin repeat domain 16 isoform a							141.0	138.0	139.0					10																	5929972		2203	4300	6503	SO:0001583	missense	54522							g.chr10:5929972C>T	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.373G>A	10.37:g.5929972C>T	ENSP00000369436:p.Glu125Lys					ANKRD16_uc009xie.2_Missense_Mutation_p.E125K|ANKRD16_uc009xif.2_Missense_Mutation_p.E125K|ANKRD16_uc001iiq.2_Missense_Mutation_p.E125K|FBXO18_uc001iir.2_5'Flank|FBXO18_uc001iis.2_5'Flank|FBXO18_uc009xig.2_5'Flank	p.E125K	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN			2	916	-			125			ANK 3.		A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	c.373G>A	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819882	0.71028	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.67523	-0.27;-0.27;-0.27	4.85	4.85	0.62838	Ankyrin repeat-containing domain (4);	0.276771	0.40728	N	0.001022	T	0.55130	0.1901	N	0.17248	0.465	0.34254	D	0.679071	P;P;P	0.51057	0.941;0.941;0.855	B;P;B	0.45167	0.338;0.472;0.269	T	0.70270	-0.4918	10	0.59425	D	0.04	-14.5512	14.4947	0.67678	0.0:0.8522:0.1478:0.0	.	125;125;125	Q6P6B7;C9JP28;F8WEI4	ANR16_HUMAN;.;.	K	125	ENSP00000369436:E125K;ENSP00000369434:E125K;ENSP00000352361:E125K	ENSP00000352361:E125K	E	-	1	0	ANKRD16	5969978	0.385000	0.25172	0.894000	0.35097	0.949000	0.60115	0.879000	0.28146	2.422000	0.82143	0.558000	0.71614	GAA		0.557	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		43	106	0	0	0	0.00361	0	43	106				
FBXO18	84893	broad.mit.edu	37	10	5948307	5948307	+	Silent	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:5948307A>T	ENST00000362091.4	+	3	580	c.465A>T	c.(463-465)ccA>ccT	p.P155P	FBXO18_ENST00000397269.3_De_novo_Start_OutOfFrame|FBXO18_ENST00000379999.5_Silent_p.P206P|FBXO18_ENST00000470089.1_3'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	155	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				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						TGTCTGTGCCATGCACAAGGC	0.587																																							uc001iis.2		NA																	0				ovary(2)|skin(1)	3						c.(463-465)CCA>CCT		F-box only protein, helicase, 18 isoform 2							46.0	45.0	45.0					10																	5948307		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948307A>T	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.465A>T	10.37:g.5948307A>T						FBXO18_uc001iir.2_Silent_p.P81P|FBXO18_uc009xig.2_Silent_p.P81P|FBXO18_uc001iit.2_Silent_p.P206P	p.P155P	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			3	560	+			155			F-box.		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.465A>T	CCDS7072.1																																																																																				0.587	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		27	31	0	0	0	0.004656	0	27	31				
NMT2	9397	broad.mit.edu	37	10	15151838	15151838	+	Splice_Site	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:15151838T>A	ENST00000378165.4	-	11	1419	c.1339A>T	c.(1339-1341)Aaa>Taa	p.K447*	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'Flank|NMT2_ENST00000540259.1_Splice_Site_p.K259*|NMT2_ENST00000378150.1_Splice_Site_p.K434*|NMT2_ENST00000535341.1_Splice_Site_p.K434*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	447					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TCAAATCCTTTCTGCCAATTT	0.299																																					Melanoma(117;1345 1645 4130 12688 30625)	Melanoma(117;1345 1645 4130 12688 30625)	uc001inz.1		NA																	0				ovary(1)	1						c.(1339-1341)AAA>TAA		N-myristoyltransferase 2							73.0	78.0	77.0					10																	15151838		2202	4300	6502	SO:0001630	splice_region_variant	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15151838T>A	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1339-1A>T	10.37:g.15151838T>A						NMT2_uc001ioa.1_Nonsense_Mutation_p.K434*|NMT2_uc009xjo.1_Intron|NMT2_uc010qbz.1_Nonsense_Mutation_p.K259*	p.K447*	NM_004808	NP_004799	O60551	NMT2_HUMAN			11	1423	-			447					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Nonsense_Mutation	SNP	ENST00000378165.4	37	c.1339A>T	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	T	40	8.142502	0.98675	.	.	ENSG00000152465	ENST00000441445;ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	.	.	.	5.51	5.51	0.81932	.	0.080473	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.0691	15.925	0.79609	0.0:0.0:0.0:1.0	.	.	.	.	X	11;447;434;478;259;434	.	.	K	-	1	0	NMT2	15191844	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.924000	0.87555	2.225000	0.72522	0.533000	0.62120	AAA		0.299	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808	Nonsense_Mutation	7	41	0	0	0	0.00308	0	7	41				
CACNB2	783	broad.mit.edu	37	10	18827284	18827284	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:18827284C>A	ENST00000324631.7	+	13	1538	c.1478C>A	c.(1477-1479)tCt>tAt	p.S493Y	RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.S441Y|CACNB2_ENST00000352115.6_Missense_Mutation_p.S469Y|CACNB2_ENST00000377328.1_Missense_Mutation_p.S243Y|CACNB2_ENST00000377315.4_Missense_Mutation_p.S445Y|CACNB2_ENST00000377319.3_Missense_Mutation_p.S400Y|CACNB2_ENST00000377329.4_Missense_Mutation_p.S439Y|CACNB2_ENST00000282343.8_Missense_Mutation_p.S465Y|CACNB2_ENST00000396576.2_Missense_Mutation_p.S438Y	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	493					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCCTAGCCTCTAATTCACAG	0.473																																							uc001ipr.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(1477-1479)TCT>TAT		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						126.0	133.0	131.0					10																	18827284		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18827284C>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1478C>A	10.37:g.18827284C>A	ENSP00000320025:p.Ser493Tyr					CACNB2_uc009xjz.1_Missense_Mutation_p.S243Y|CACNB2_uc001ips.2_Missense_Mutation_p.S469Y|CACNB2_uc001ipt.2_Missense_Mutation_p.S455Y|CACNB2_uc001ipu.2_Missense_Mutation_p.S465Y|CACNB2_uc001ipv.2_Missense_Mutation_p.S441Y|CACNB2_uc009xka.1_Missense_Mutation_p.S427Y|CACNB2_uc001ipw.2_Missense_Mutation_p.S400Y|CACNB2_uc001ipx.2_Missense_Mutation_p.S438Y|CACNB2_uc001ipz.2_Missense_Mutation_p.S415Y|CACNB2_uc001ipy.2_Missense_Mutation_p.S439Y|CACNB2_uc010qco.1_Missense_Mutation_p.S407Y|CACNB2_uc001iqa.2_Missense_Mutation_p.S445Y|NSUN6_uc001iqb.2_Intron	p.S493Y	NM_201596	NP_963890	Q08289	CACB2_HUMAN			13	1538	+			493					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1478C>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981677	0.74474	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.84800	-1.82;-1.81;-1.9;-1.81;-1.82;-1.81;-1.82;-1.81;-1.81	5.6	5.6	0.85130	.	0.267082	0.43919	D	0.000502	D	0.89174	0.6640	M	0.64170	1.965	0.50813	D	0.999899	B;P;D;P;P;P;P;P;P;P;P;P;P	0.71674	0.375;0.814;0.998;0.814;0.74;0.883;0.736;0.731;0.863;0.883;0.731;0.915;0.918	B;B;P;B;P;P;B;B;P;P;B;P;B	0.62089	0.397;0.333;0.898;0.309;0.52;0.632;0.333;0.347;0.534;0.533;0.444;0.812;0.333	D	0.89568	0.3811	10	0.87932	D	0	-3.5012	10.6956	0.45896	0.0:0.8839:0.0:0.1161	.	407;465;243;445;415;439;449;400;441;465;455;469;493	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	Y	493;469;243;465;441;438;400;439;445	ENSP00000320025:S493Y;ENSP00000344474:S469Y;ENSP00000366545:S243Y;ENSP00000282343:S465Y;ENSP00000366548:S441Y;ENSP00000379821:S438Y;ENSP00000366536:S400Y;ENSP00000366546:S439Y;ENSP00000366532:S445Y	ENSP00000282343:S465Y	S	+	2	0	CACNB2	18867290	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.537000	0.60643	2.652000	0.90054	0.650000	0.86243	TCT		0.473	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		58	167	1	0	2.93687e-30	0.00361	4.77361e-30	58	167				
CACNB2	783	broad.mit.edu	37	10	18827288	18827288	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:18827288T>A	ENST00000324631.7	+	13	1542	c.1482T>A	c.(1480-1482)aaT>aaA	p.N494K	RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.N442K|CACNB2_ENST00000352115.6_Missense_Mutation_p.N470K|CACNB2_ENST00000377328.1_Missense_Mutation_p.N244K|CACNB2_ENST00000377315.4_Missense_Mutation_p.N446K|CACNB2_ENST00000377319.3_Missense_Mutation_p.N401K|CACNB2_ENST00000377329.4_Missense_Mutation_p.N440K|CACNB2_ENST00000282343.8_Missense_Mutation_p.N466K|CACNB2_ENST00000396576.2_Missense_Mutation_p.N439K	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	494					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAGCCTCTAATTCACAGGTAA	0.483																																							uc001ipr.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(1480-1482)AAT>AAA		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						118.0	125.0	123.0					10																	18827288		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18827288T>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1482T>A	10.37:g.18827288T>A	ENSP00000320025:p.Asn494Lys					CACNB2_uc009xjz.1_Missense_Mutation_p.N244K|CACNB2_uc001ips.2_Missense_Mutation_p.N470K|CACNB2_uc001ipt.2_Missense_Mutation_p.N456K|CACNB2_uc001ipu.2_Missense_Mutation_p.N466K|CACNB2_uc001ipv.2_Missense_Mutation_p.N442K|CACNB2_uc009xka.1_Missense_Mutation_p.N428K|CACNB2_uc001ipw.2_Missense_Mutation_p.N401K|CACNB2_uc001ipx.2_Missense_Mutation_p.N439K|CACNB2_uc001ipz.2_Missense_Mutation_p.N416K|CACNB2_uc001ipy.2_Missense_Mutation_p.N440K|CACNB2_uc010qco.1_Missense_Mutation_p.N408K|CACNB2_uc001iqa.2_Missense_Mutation_p.N446K|NSUN6_uc001iqb.2_Intron	p.N494K	NM_201596	NP_963890	Q08289	CACB2_HUMAN			13	1542	+			494					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1482T>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.388973	0.61956	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.83075	-1.64;-1.63;-1.68;-1.63;-1.64;-1.64;-1.64;-1.64;-1.64	5.6	0.455	0.16649	.	0.294957	0.39615	N	0.001319	T	0.81336	0.4801	L	0.54323	1.7	0.40683	D	0.982321	B;B;D;B;B;B;B;B;B;P;B;P;P	0.63046	0.034;0.411;0.992;0.215;0.142;0.321;0.139;0.145;0.411;0.546;0.137;0.692;0.554	B;B;P;B;B;B;B;B;B;B;B;B;B	0.55871	0.044;0.055;0.786;0.021;0.045;0.075;0.034;0.036;0.076;0.117;0.058;0.158;0.076	T	0.75491	-0.3299	10	0.19590	T	0.45	-14.8767	6.4442	0.21867	0.0:0.378:0.133:0.489	.	408;466;244;446;416;440;450;401;442;466;456;470;494	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	K	494;470;244;466;442;439;401;440;446	ENSP00000320025:N494K;ENSP00000344474:N470K;ENSP00000366545:N244K;ENSP00000282343:N466K;ENSP00000366548:N442K;ENSP00000379821:N439K;ENSP00000366536:N401K;ENSP00000366546:N440K;ENSP00000366532:N446K	ENSP00000282343:N466K	N	+	3	2	CACNB2	18867294	0.996000	0.38824	0.999000	0.59377	0.987000	0.75469	0.352000	0.20113	0.111000	0.17947	0.528000	0.53228	AAT		0.483	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		54	160	0	0	0	0.00361	0	54	160				
MYO3A	53904	broad.mit.edu	37	10	26463005	26463005	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:26463005T>C	ENST00000265944.5	+	30	3978	c.3812T>C	c.(3811-3813)gTg>gCg	p.V1271A	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1271					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCTACCCAGTGCCTTGGTTA	0.398																																							uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(3811-3813)GTG>GCG		myosin IIIA							63.0	66.0	65.0					10																	26463005		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463005T>C	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3812T>C	10.37:g.26463005T>C	ENSP00000265944:p.Val1271Ala					MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.V1271A	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			30	4172	+			1271					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3812T>C	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	0.287	-0.982442	0.02180	.	.	ENSG00000095777	ENST00000265944	T	0.76448	-1.02	5.41	4.5	0.54988	.	0.667215	0.15824	N	0.242839	T	0.53850	0.1822	N	0.08118	0	0.09310	N	0.999996	B	0.15473	0.013	B	0.09377	0.004	T	0.36383	-0.9750	10	0.08599	T	0.76	.	8.3924	0.32537	0.0745:0.0:0.6263:0.2992	.	1271	Q8NEV4	MYO3A_HUMAN	A	1271	ENSP00000265944:V1271A	ENSP00000265944:V1271A	V	+	2	0	MYO3A	26503011	0.002000	0.14202	0.068000	0.19968	0.099000	0.18886	0.117000	0.15583	1.267000	0.44247	-0.286000	0.09958	GTG		0.398	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		30	55	0	0	0	0.008361	0	30	55				
MYO3A	53904	broad.mit.edu	37	10	26463048	26463048	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:26463048G>T	ENST00000265944.5	+	30	4021	c.3855G>T	c.(3853-3855)ttG>ttT	p.L1285F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1285					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAAAAACTTTGGAACCTACAC	0.413																																							uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(3853-3855)TTG>TTT		myosin IIIA							57.0	61.0	60.0					10																	26463048		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463048G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3855G>T	10.37:g.26463048G>T	ENSP00000265944:p.Leu1285Phe					MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.L1285F	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			30	4215	+			1285					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3855G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	3.494	-0.103180	0.06967	.	.	ENSG00000095777	ENST00000265944	T	0.78246	-1.16	5.63	2.75	0.32379	.	1.333490	0.04702	N	0.415951	T	0.67183	0.2866	L	0.29908	0.895	0.35764	D	0.820437	B	0.12630	0.006	B	0.10450	0.005	T	0.57464	-0.7807	10	0.44086	T	0.13	.	4.5578	0.12145	0.2527:0.0:0.5589:0.1884	.	1285	Q8NEV4	MYO3A_HUMAN	F	1285	ENSP00000265944:L1285F	ENSP00000265944:L1285F	L	+	3	2	MYO3A	26503054	0.405000	0.25336	0.015000	0.15790	0.099000	0.18886	0.533000	0.23082	0.312000	0.23038	-0.251000	0.11542	TTG		0.413	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		20	78	1	0	3.8784e-16	0.001882	5.4825e-16	20	78				
ANKRD30A	91074	broad.mit.edu	37	10	37508664	37508664	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:37508664A>T	ENST00000602533.1	+	34	3955	c.3856A>T	c.(3856-3858)Aag>Tag	p.K1286*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.K1286*|ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.K1405*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1342					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCATGCACATAAGAAAGCTGA	0.328																																							uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(3856-3858)AAG>TAG		ankyrin repeat domain 30A							48.0	44.0	45.0					10																	37508664		1840	4093	5933	SO:0001587	stop_gained	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508664A>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3856A>T	10.37:g.37508664A>T	ENSP00000473551:p.Lys1286*						p.K1286*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3955	+			1342					Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37	c.3856A>T		.	.	.	.	.	.	.	.	.	.	a	39	7.530259	0.98342	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	2.95	1.8	0.24995	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	5.9567	0.19277	0.8631:0.0:0.1369:0.0	.	.	.	.	X	1286;1405	.	ENSP00000354432:K1286X	K	+	1	0	ANKRD30A	37548670	0.993000	0.37304	0.000000	0.03702	0.003000	0.03518	3.756000	0.55205	0.255000	0.21593	-0.447000	0.05616	AAG		0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		10	31	0	0	0	0.006214	0	10	31				
ZFAND4	93550	broad.mit.edu	37	10	46121515	46121515	+	Missense_Mutation	SNP	G	G	A	rs35142284		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:46121515G>A	ENST00000344646.5	-	7	1971	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	ZFAND4_ENST00000374366.3_Missense_Mutation_p.R512C|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	586							zinc ion binding (GO:0008270)										CCTGCCCCACGTGTGCTCTGT	0.463																																							uc001jcp.3		NA																	0					0						c.(1756-1758)CGT>TGT		AN1, ubiquitin-like, homolog							89.0	89.0	89.0					10																	46121515		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46121515G>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1756C>T	10.37:g.46121515G>A	ENSP00000339484:p.Arg586Cys					ANUBL1_uc001jcl.3_Missense_Mutation_p.R106C|ANUBL1_uc001jcm.3_Missense_Mutation_p.R586C|ANUBL1_uc009xmu.2_Missense_Mutation_p.R512C|ANUBL1_uc001jcn.3_Missense_Mutation_p.R512C|ANUBL1_uc001jco.3_Intron	p.R586C	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN			7	1998	-			586					A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.1756C>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085612	0.36758	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.22336	1.96;1.96	5.73	-0.382	0.12481	.	1.516670	0.03741	N	0.254975	T	0.13628	0.0330	N	0.25144	0.715	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.25572	-1.0128	10	0.29301	T	0.29	-18.5357	4.9442	0.13982	0.2892:0.4628:0.2481:0.0	.	586	Q86XD8	ANUB1_HUMAN	C	586;512;468	ENSP00000339484:R586C;ENSP00000363486:R512C	ENSP00000339484:R586C	R	-	1	0	ANUBL1	45441521	0.822000	0.29219	0.042000	0.18584	0.824000	0.46624	1.575000	0.36493	0.282000	0.22254	0.561000	0.74099	CGT		0.463	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		41	59	0	0	0	0.002522	0	41	59				
PRKG1	5592	broad.mit.edu	37	10	53564429	53564429	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:53564429A>G	ENST00000401604.2	+	4	826	c.632A>G	c.(631-633)gAg>gGg	p.E211G	PRKG1_ENST00000373980.4_Missense_Mutation_p.E226G|PRKG1_ENST00000373985.1_Missense_Mutation_p.E199G			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	211	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AAGCATACCGAGTATATGGAA	0.353																																							uc001jjm.2		NA																	0				lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(631-633)GAG>GGG		protein kinase, cGMP-dependent, type I isoform							96.0	89.0	91.0					10																	53564429		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:53564429A>G		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.632A>G	10.37:g.53564429A>G	ENSP00000384200:p.Glu211Gly					PRKG1_uc001jjn.2_Missense_Mutation_p.E226G|PRKG1_uc001jjo.2_Missense_Mutation_p.E226G	p.E211G	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	4	826	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	211			cGMP 1.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.632A>G	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.176590	0.57692	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.29	5.29	0.74685	RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	M	0.76433	2.335	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;P	0.59825	0.864;0.829	T	0.45833	-0.9234	10	0.28530	T	0.3	-16.9508	13.447	0.61146	1.0:0.0:0.0:0.0	.	226;211	Q13976-2;Q13976	.;KGP1_HUMAN	G	211;199;226;84	ENSP00000384200:E211G;ENSP00000363097:E199G;ENSP00000363092:E226G;ENSP00000363087:E84G	ENSP00000363087:E84G	E	+	2	0	PRKG1	53234435	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	8.877000	0.92386	2.124000	0.65301	0.402000	0.26972	GAG		0.353	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	30	0	0	0	0.00308	0	6	30				
PCDH15	65217	broad.mit.edu	37	10	55849811	55849811	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:55849811C>T	ENST00000320301.6	-	16	2324	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	PCDH15_ENST00000395446.1_Missense_Mutation_p.E644K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E644K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E622K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E644K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E644K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E255K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.E644K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E607K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E622K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.E651K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E649K|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.E651K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAGTCTCCCTCTCGATCAGTT	0.328										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1930-1932)GAG>AAG		protocadherin 15 isoform CD1-4 precursor							60.0	60.0	60.0					10																	55849811		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55849811C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1930G>A	10.37:g.55849811C>T	ENSP00000322604:p.Glu644Lys	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.E649K|PCDH15_uc010qhr.1_Missense_Mutation_p.E644K|PCDH15_uc010qhs.1_Missense_Mutation_p.E656K|PCDH15_uc010qht.1_Missense_Mutation_p.E651K|PCDH15_uc010qhu.1_Missense_Mutation_p.E644K|PCDH15_uc001jjv.1_Missense_Mutation_p.E622K|PCDH15_uc010qhv.1_Missense_Mutation_p.E644K|PCDH15_uc010qhw.1_Missense_Mutation_p.E607K|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Missense_Mutation_p.E649K|PCDH15_uc010qhz.1_Missense_Mutation_p.E644K|PCDH15_uc010qia.1_Missense_Mutation_p.E622K|PCDH15_uc010qib.1_Missense_Mutation_p.E622K|PCDH15_uc001jjw.2_Missense_Mutation_p.E644K	p.E644K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			16	2325	-		Melanoma(3;0.117)|Lung SC(717;0.238)	644			Cadherin 6.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1930G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909647	0.72983	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	6.16	5.25	0.73442	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71484	0.3345	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.996;0.996;1.0;0.999;0.999;1.0;0.999;1.0;1.0;0.998;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.987;0.968;0.977;0.994;0.998;0.992;0.992;0.987;0.991;0.994;0.979;0.988;0.991	T	0.76969	-0.2762	9	0.87932	D	0	.	15.5135	0.75802	0.0:0.8624:0.1376:0.0	.	622;644;644;649;607;644;644;651;651;644;649;644;622;644	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	651;649;644;644;255;651;644;607;644;622;622;644;644;649;644	ENSP00000363076:E651K;ENSP00000410304:E649K;ENSP00000378826:E644K;ENSP00000386693:E255K;ENSP00000378832:E651K;ENSP00000378833:E644K;ENSP00000378820:E607K;ENSP00000354950:E644K;ENSP00000378821:E622K;ENSP00000363068:E622K;ENSP00000322604:E644K;ENSP00000378818:E644K;ENSP00000363066:E644K	ENSP00000322604:E644K	E	-	1	0	PCDH15	55519817	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	5.099000	0.64554	1.582000	0.49881	0.650000	0.86243	GAG		0.328	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		16	36	0	0	0	0.00499	0	16	36				
COL13A1	1305	broad.mit.edu	37	10	71562455	71562455	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:71562455C>T	ENST00000398978.3	+	1	768	c.276C>T	c.(274-276)gtC>gtT	p.V92V	COL13A1_ENST00000517713.1_Silent_p.V92V|COL13A1_ENST00000520267.1_Silent_p.V92V|COL13A1_ENST00000398973.3_Silent_p.V92V|COL13A1_ENST00000398971.3_Silent_p.V92V|COL13A1_ENST00000398972.3_Silent_p.V92V|COL13A1_ENST00000356340.3_Silent_p.V92V|COL13A1_ENST00000357811.3_Silent_p.V92V|COL13A1_ENST00000398969.3_Silent_p.V92V|COL13A1_ENST00000520133.1_Silent_p.V92V|COL13A1_ENST00000522165.1_Silent_p.V92V|COL13A1_ENST00000398974.3_Silent_p.V92V|COL13A1_ENST00000398964.3_Silent_p.V92V|COL13A1_ENST00000398968.3_Silent_p.V92V|COL13A1_ENST00000398966.3_Silent_p.V92V|COL13A1_ENST00000354547.3_Silent_p.V92V	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						TGGGACGAGTCAATCAACTGC	0.652																																							uc001jpr.1		NA																	0				ovary(1)	1						c.(274-276)GTC>GTT		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						163.0	170.0	168.0					10																	71562455		2001	4174	6175	SO:0001819	synonymous_variant	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71562455C>T	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.276C>T	10.37:g.71562455C>T						COL13A1_uc001jqj.1_Silent_p.V92V|COL13A1_uc001jps.1_Silent_p.V92V|COL13A1_uc001jpt.1_Silent_p.V92V|COL13A1_uc001jpu.1_Silent_p.V92V|COL13A1_uc001jpv.1_Silent_p.V92V|COL13A1_uc001jpx.1_Silent_p.V92V|COL13A1_uc001jpw.1_Silent_p.V92V|COL13A1_uc001jpy.1_Silent_p.V92V|COL13A1_uc001jpz.1_Silent_p.V92V|COL13A1_uc001jqa.1_Silent_p.V92V|COL13A1_uc001jqc.1_Silent_p.V92V|COL13A1_uc001jqb.1_Silent_p.V92V|COL13A1_uc001jql.2_Silent_p.V92V|COL13A1_uc001jqd.1_Silent_p.V92V|COL13A1_uc001jqe.1_Silent_p.V92V|COL13A1_uc001jqf.1_Silent_p.V92V|COL13A1_uc001jqg.1_Silent_p.V92V|COL13A1_uc001jqh.1_Silent_p.V92V|COL13A1_uc001jqi.1_Silent_p.V92V	p.V92V	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			1	812	+			92			Extracellular (Potential).|Nonhelical region 1 (NC1).			Silent	SNP	ENST00000398978.3	37	c.276C>T	CCDS44419.1																																																																																				0.652	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		53	124	0	0	0	0.00361	0	53	124				
ADAMTS14	140766	broad.mit.edu	37	10	72495043	72495043	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:72495043C>G	ENST00000373207.1	+	9	1471	c.1471C>G	c.(1471-1473)Cag>Gag	p.Q491E	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.Q494E	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	491	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGTGGCTACCAGACCTGCTT	0.597																																							uc001jrh.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1471-1473)CAG>GAG		ADAM metallopeptidase with thrombospondin type 1							54.0	54.0	54.0					10																	72495043		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72495043C>G	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1471C>G	10.37:g.72495043C>G	ENSP00000362303:p.Gln491Glu					ADAMTS14_uc001jrg.2_Missense_Mutation_p.Q494E|ADAMTS14_uc001jri.1_Missense_Mutation_p.Q14E	p.Q491E	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			9	1471	+			491			Disintegrin.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1471C>G	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148134	0.37923	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.62639	0.01;0.01	4.51	4.51	0.55191	.	0.263396	0.35235	N	0.003354	T	0.40297	0.1111	N	0.11560	0.145	0.28141	N	0.929785	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.22382	-1.0218	10	0.34782	T	0.22	.	10.2667	0.43460	0.3076:0.6924:0.0:0.0	.	424;491;494	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	E	494;491	ENSP00000362304:Q494E;ENSP00000362303:Q491E	ENSP00000362303:Q491E	Q	+	1	0	ADAMTS14	72165049	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.394000	0.66285	2.516000	0.84829	0.655000	0.94253	CAG		0.597	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		22	25	0	0	0	0.004656	0	22	25				
FAM213A	84293	broad.mit.edu	37	10	82180396	82180396	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:82180396A>G	ENST00000372181.1	+	1	643	c.173A>G	c.(172-174)gAg>gGg	p.E58G	FAM213A_ENST00000372188.1_Missense_Mutation_p.E58G|FAM213A_ENST00000372187.5_Missense_Mutation_p.E58G|FAM213A_ENST00000372185.1_Missense_Mutation_p.E47G	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	58	Thioredoxin fold. {ECO:0000250}.				oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										AAAACACTGGAGAAGGGTAAG	0.483																																							uc001kcc.3		NA																	0					0						c.(172-174)GAG>GGG		hypothetical protein LOC84293 precursor							54.0	54.0	54.0					10																	82180396		2203	4300	6503	SO:0001583	missense	84293					extracellular region		g.chr10:82180396A>G	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.173A>G	10.37:g.82180396A>G	ENSP00000361254:p.Glu58Gly					C10orf58_uc001kcd.3_Missense_Mutation_p.E47G|C10orf58_uc001kce.3_Missense_Mutation_p.E58G|C10orf58_uc001kcf.3_Missense_Mutation_p.E58G	p.E58G	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	Colorectal(32;0.229)		2	333	+			58					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	c.173A>G	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.304952	0.23736	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	.	.	.	5.78	0.89	0.19218	.	1.000120	0.08080	N	1.000000	T	0.14614	0.0353	N	0.05031	-0.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31503	-0.9941	9	0.10902	T	0.67	2.4154	3.6982	0.08372	0.4992:0.0:0.3362:0.1646	.	58	Q9BRX8	PAMM_HUMAN	G	58;58;47;58	.	ENSP00000361254:E58G	E	+	2	0	C10orf58	82170376	0.000000	0.05858	0.539000	0.28077	0.956000	0.61745	-0.222000	0.09190	0.115000	0.18071	0.533000	0.62120	GAG		0.483	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			4	42	0	0	0	0.009096	0	4	42				
GRID1	2894	broad.mit.edu	37	10	87482766	87482766	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:87482766G>T	ENST00000327946.7	-	12	2076	c.1991C>A	c.(1990-1992)cCc>cAc	p.P664H	GRID1_ENST00000536331.1_Missense_Mutation_p.P235H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	664					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TTACCTTATGGGGTTGTCCAT	0.532										Multiple Myeloma(13;0.14)																													uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(1990-1992)CCC>CAC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						87.0	69.0	75.0					10																	87482766		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87482766G>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1991C>A	10.37:g.87482766G>T	ENSP00000330148:p.Pro664His	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.P235H	p.P664H	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			12	2092	-			664			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1991C>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999829	0.93227	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.12879	2.64;2.64	6.08	6.08	0.98989	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.237937	0.51477	D	0.000097	T	0.41328	0.1154	M	0.87328	2.875	0.80722	D	1	D	0.69078	0.997	P	0.57371	0.819	T	0.37478	-0.9704	10	0.87932	D	0	.	19.6529	0.95825	0.0:0.0:1.0:0.0	.	664	Q9ULK0	GRID1_HUMAN	H	664;235	ENSP00000330148:P664H;ENSP00000444455:P235H	ENSP00000330148:P664H	P	-	2	0	GRID1	87472746	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.800000	0.85949	2.890000	0.99128	0.655000	0.94253	CCC		0.532	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		7	11	1	0	1.12685e-05	0.004482	1.27505e-05	7	11				
R3HCC1L	27291	broad.mit.edu	37	10	99995212	99995212	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:99995212T>C	ENST00000298999.3	+	8	2366	c.2063T>C	c.(2062-2064)aTg>aCg	p.M688T	R3HCC1L_ENST00000370586.2_Missense_Mutation_p.M94T|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.M688T|R3HCC1L_ENST00000314594.5_Missense_Mutation_p.M104T	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	702							nucleotide binding (GO:0000166)										AAACACACCATGGTGAAGATT	0.448																																							uc001kow.3		NA																	0				large_intestine(1)|skin(1)	2						c.(2062-2064)ATG>ACG		growth inhibition and differentiation related							122.0	97.0	106.0					10																	99995212		2203	4300	6503	SO:0001583	missense	27291						nucleotide binding	g.chr10:99995212T>C	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.2063T>C	10.37:g.99995212T>C	ENSP00000298999:p.Met688Thr					C10orf28_uc001kox.3_Missense_Mutation_p.M702T|C10orf28_uc001koy.3_Missense_Mutation_p.M688T|C10orf28_uc009xvx.2_Missense_Mutation_p.M688T|C10orf28_uc009xvy.2_Missense_Mutation_p.M94T|C10orf28_uc001koz.3_RNA	p.M688T	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	7	2358	+		Colorectal(252;0.234)	688					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	c.2063T>C	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682241	0.47991	.	.	ENSG00000166024	ENST00000370584;ENST00000298999;ENST00000370586;ENST00000314594;ENST00000544834	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.77	5.77	0.91146	Nucleotide-binding, alpha-beta plait (1);	0.045380	0.85682	D	0.000000	T	0.43322	0.1242	L	0.45698	1.435	0.50632	D	0.999884	P;D;P	0.76494	0.879;0.999;0.914	B;D;P	0.71414	0.304;0.973;0.612	T	0.14364	-1.0475	9	.	.	.	-11.5899	15.0686	0.72017	0.0:0.0:0.0:1.0	.	94;702;688	Q7Z5L2-3;Q7Z5L2;Q7Z5L2-2	.;GIDRP_HUMAN;.	T	688;688;94;104;95	ENSP00000359616:M688T;ENSP00000298999:M688T;ENSP00000359618:M94T;ENSP00000314018:M104T	.	M	+	2	0	C10orf28	99985202	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.230000	0.72301	2.198000	0.70561	0.533000	0.62120	ATG		0.448	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		16	13	0	0	0	0.004007	0	16	13				
HPSE2	60495	broad.mit.edu	37	10	100995443	100995443	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:100995443G>A	ENST00000370552.3	-	1	176	c.117C>T	c.(115-117)tcC>tcT	p.S39S	HPSE2_ENST00000404542.1_Silent_p.S39S|HPSE2_ENST00000370549.1_Silent_p.S39S|HPSE2_ENST00000370546.1_Silent_p.S39S	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	39					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CTCCAGCCTGGGAGGAAAGGG	0.592																																							uc001kpn.1		NA																	0				ovary(1)	1						c.(115-117)TCC>TCT		heparanase 2							100.0	103.0	102.0					10																	100995443		2203	4300	6503	SO:0001819	synonymous_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100995443G>A	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.117C>T	10.37:g.100995443G>A						HPSE2_uc009xwc.1_Silent_p.S29S|HPSE2_uc001kpo.1_Silent_p.S29S|HPSE2_uc009xwd.1_Silent_p.S29S	p.S39S	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	1	177	-			39					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	c.117C>T	CCDS7477.1																																																																																				0.592	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		48	63	0	0	0	0.002852	0	48	63				
NEURL1	9148	broad.mit.edu	37	10	105331285	105331285	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:105331285G>A	ENST00000369780.4	+	3	764	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	NEURL_ENST00000369777.2_Missense_Mutation_p.G102R	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		119	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGCTGGAGCGGGGCCCTGCG	0.672																																							uc001kxh.2		NA																	0					0						c.(355-357)GGG>AGG		neuralized-like							24.0	24.0	24.0					10																	105331285		2200	4300	6500	SO:0001583	missense	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105331285G>A																												ENST00000369780.4:c.355G>A	10.37:g.105331285G>A	ENSP00000358795:p.Gly119Arg						p.G119R	NM_004210	NP_004201	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	3	765	+			119			NHR 1.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	c.355G>A	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203919	0.95033	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777;ENST00000455386	.	.	.	5.68	5.68	0.88126	NEUZ (3);	0.000000	0.85682	D	0.000000	D	0.85358	0.5678	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87581	0.2484	9	0.87932	D	0	-14.0277	18.7606	0.91849	0.0:0.0:1.0:0.0	.	119	O76050	NEU1A_HUMAN	R	119;102;102;44	.	ENSP00000358792:G102R	G	+	1	0	NEURL	105321275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.669000	0.90835	0.561000	0.74099	GGG		0.672	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			4	27	0	0	0	0.009096	0	4	27				
SORCS1	114815	broad.mit.edu	37	10	108923969	108923969	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:108923969C>A	ENST00000263054.6	-	1	323	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C	SORCS1_ENST00000344440.6_Missense_Mutation_p.G106C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	106					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCTCCGGCCGGAGCGTGCA	0.701																																							uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(316-318)GGC>TGC		SORCS receptor 1 isoform a							18.0	19.0	19.0					10																	108923969		2199	4298	6497	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923969C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.316G>T	10.37:g.108923969C>A	ENSP00000263054:p.Gly106Cys					SORCS1_uc001kyl.2_Missense_Mutation_p.G106C|SORCS1_uc009xxs.2_Missense_Mutation_p.G106C|SORCS1_uc001kyn.1_Missense_Mutation_p.G106C|SORCS1_uc001kyo.2_Missense_Mutation_p.G106C	p.G106C	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	324	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	106			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.316G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	9.341	1.062954	0.19987	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.15017	2.46;2.48	4.45	-1.01	0.10169	.	0.678333	0.12335	N	0.477986	T	0.10680	0.0261	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.29552	0.161;0.248;0.248;0.161;0.248	B;B;B;B;B	0.41135	0.134;0.348;0.262;0.134;0.262	T	0.44757	-0.9307	9	.	.	.	-6.513	4.3046	0.10940	0.167:0.3215:0.0:0.5115	.	106;106;106;106;106	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	C	106	ENSP00000263054:G106C;ENSP00000345964:G106C	.	G	-	1	0	SORCS1	108913959	0.010000	0.17322	0.539000	0.28077	0.405000	0.30901	0.379000	0.20585	-0.073000	0.12842	-0.948000	0.02665	GGC		0.701	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		6	26	1	0	2.0095e-06	0.001984	2.32116e-06	6	26				
PNLIPRP2	5408	broad.mit.edu	37	10	118383471	118383471	+	RNA	SNP	A	A	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:118383471A>C	ENST00000298771.7	+	0	90				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AGAGTCTGCTACGGACAACTT	0.498																																							uc001lcq.2		NA																	0				large_intestine(1)	1						c.(67-69)TAC>TCC		pancreatic lipase-related protein 2							85.0	85.0	85.0					10																	118383471		1897	4131	6028			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118383471A>C	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118383471A>C						PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	p.Y23S	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	5	91	+			22					A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37	c.68A>C		.	.	.	.	.	.	.	.	.	.	A	3.002	-0.205727	0.06180	.	.	ENSG00000165862	ENST00000537242	D	0.89875	-2.58	5.65	1.74	0.24563	Lipase, N-terminal (1);	0.388338	0.21526	N	0.073139	D	0.93083	0.7798	.	.	.	0.09310	N	0.999994	D	0.76494	0.999	D	0.76071	0.987	D	0.86047	0.1523	9	0.87932	D	0	.	10.8181	0.46589	0.5811:0.0:0.0:0.4189	.	22	P54317	LIPR2_HUMAN	S	22	ENSP00000446346:Y22S	ENSP00000446346:Y22S	Y	+	2	0	PNLIPRP2	118373461	0.720000	0.27996	0.416000	0.26546	0.027000	0.11550	1.130000	0.31393	0.370000	0.24538	0.454000	0.30748	TAC		0.498	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		3	48	0	0	0	0.004672	0	3	48				
FAM45A	404636	broad.mit.edu	37	10	120882985	120882985	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:120882985C>T	ENST00000361432.2	+	6	624	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	FAM45A_ENST00000544016.1_Silent_p.L49L|FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_Silent_p.L162L	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	200										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CCCCAGGACTCTGCCTGCCCT	0.557																																							uc001ldw.2		NA																	0				ovary(1)	1						c.(598-600)CTG>TTG		hypothetical protein LOC404636							93.0	69.0	77.0					10																	120882985		2203	4300	6503	SO:0001819	synonymous_variant	404636							g.chr10:120882985C>T	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.598C>T	10.37:g.120882985C>T						FAM45A_uc010qsv.1_Silent_p.L192L|FAM45A_uc010qsw.1_Silent_p.L49L|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Silent_p.L127L|FAM45A_uc010qsz.1_Silent_p.L89L	p.L200L	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	6	642	+		Lung NSC(174;0.094)|all_lung(145;0.123)	200					B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Silent	SNP	ENST00000361432.2	37	c.598C>T	CCDS7609.1	.	.	.	.	.	.	.	.	.	.	C	9.058	0.993693	0.19043	.	.	ENSG00000119979	ENST00000546291	.	.	.	5.65	4.75	0.60458	.	.	.	.	.	T	0.54271	0.1848	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48614	-0.9020	5	0.22109	T	0.4	.	9.6296	0.39772	0.0:0.8277:0.0:0.1723	.	.	.	.	F	199	.	ENSP00000442471:S199F	S	+	2	0	FAM45A	120872975	0.998000	0.40836	0.995000	0.50966	0.998000	0.95712	3.840000	0.55843	1.388000	0.46506	0.543000	0.68304	TCT		0.557	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		10	16	0	0	0	0.006214	0	10	16				
CPXM2	119587	broad.mit.edu	37	10	125526576	125526576	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:125526576C>A	ENST00000241305.3	-	10	1546	c.1392G>T	c.(1390-1392)tgG>tgT	p.W464C	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	464					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCTCTGCCTCCCAGAGCAGCG	0.517																																							uc001lhk.1		NA																	0				ovary(2)	2						c.(1390-1392)TGG>TGT		carboxypeptidase X (M14 family), member 2							134.0	124.0	127.0					10																	125526576		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125526576C>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1392G>T	10.37:g.125526576C>A	ENSP00000241305:p.Trp464Cys					CPXM2_uc001lhj.2_RNA	p.W464C	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	10	1717	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	464					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1392G>T	CCDS7637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.35|17.35	3.368649|3.368649	0.61624|0.61624	.|.	.|.	ENSG00000121898|ENSG00000121898	ENST00000418782|ENST00000241305;ENST00000540123	.|T	.|0.05081	.|3.5	4.69|4.69	3.79|3.79	0.43588|0.43588	.|Peptidase M14, carboxypeptidase A (2);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.24236	.|0.0587	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|T	.|0.01287	.|-1.1395	.|10	.|0.59425	.|D	.|0.04	.|-14.9976	12.881|12.881	0.58017|0.58017	0.0:0.9217:0.0:0.0783|0.0:0.9217:0.0:0.0783	.|.	.|464	.|Q8N436	.|CPXM2_HUMAN	.|C	-1|464;297	.|ENSP00000241305:W464C	.|ENSP00000241305:W464C	.|W	-|-	.|3	.|0	CPXM2|CPXM2	125516566|125516566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	7.624000|7.624000	0.83124|0.83124	1.194000|1.194000	0.43101|0.43101	-0.142000|-0.142000	0.14014|0.14014	.|TGG		0.517	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		25	27	1	0	1.55469e-16	0.00333	2.2229e-16	25	27				
EBF3	253738	broad.mit.edu	37	10	131639270	131639270	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:131639270C>G	ENST00000355311.5	-	14	1471	c.1399G>C	c.(1399-1401)Gtg>Ctg	p.V467L	EBF3_ENST00000368648.3_Missense_Mutation_p.V458L|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	467	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CGCGGGGACACGCTGCTTGTA	0.552																																							uc001lki.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1372-1374)GTG>CTG		early B-cell factor 3							138.0	124.0	129.0					10																	131639270		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131639270C>G		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1399G>C	10.37:g.131639270C>G	ENSP00000347463:p.Val467Leu						p.V458L	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	14	1431	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	467			Pro/Ser/Thr-rich.		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1372G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.13|16.13	3.034578|3.034578	0.54896|0.54896	.|.	.|.	ENSG00000108001|ENSG00000108001	ENST00000440978|ENST00000355311;ENST00000368648	.|T;T	.|0.38560	.|1.13;1.13	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.056700	.|0.64402	.|D	.|0.000001	T|T	0.38719|0.38719	0.1051|0.1051	L|L	0.42529|0.42529	1.33|1.33	0.80722|0.80722	D|D	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.18561	.|0.022	T|T	0.14643|0.14643	-1.0465|-1.0465	5|10	.|0.30854	.|T	.|0.27	-16.3471|-16.3471	18.1072|18.1072	0.89524|0.89524	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|458	.|Q9H4W6-2	.|.	P|L	28|467;458	.|ENSP00000347463:V467L;ENSP00000357637:V458L	.|ENSP00000347463:V467L	R|V	-|-	2|1	0|0	EBF3|EBF3	131529260|131529260	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.617000|7.617000	0.83032|0.83032	2.492000|2.492000	0.84095|0.84095	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.552	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		21	38	0	0	0	0.001882	0	21	38				
MUC6	4588	broad.mit.edu	37	11	1028697	1028698	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:1028697_1028698TG>AT	ENST00000421673.2	-	13	1589_1590	c.1539_1540CA>AT	c.(1537-1542)ccCAtc>ccATtc	p.I514F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	514	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTGGAAGATGGGGCGCAGCT	0.629																																							uc001lsw.2		NA																	0				ovary(1)	1						c.(1537-1542)CCCATC>CCATTC		mucin 6, gastric																																				SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028697_1028698TG>AT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1539_1540delinsAT	11.37:g.1028697_1028698delinsAT	ENSP00000406861:p.Ile514Phe						p.I514F	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1590_1591	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	514			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	DNP	ENST00000421673.2	37	c.1539_1540CA>AT	CCDS44513.1																																																																																				0.629	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		14	15	0	0	0	0.004672	0	14	15				
OR52R1	119695	broad.mit.edu	37	11	4825094	4825094	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:4825094G>T	ENST00000356069.2	-	1	516	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.Q252K|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTGGTGTTGGCAGAAGGGC	0.552																																							uc010qym.1		NA																	0				skin(1)	1						c.(754-756)CAA>AAA		olfactory receptor, family 52, subfamily R,							143.0	113.0	123.0					11																	4825094		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825094G>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.517C>A	11.37:g.4825094G>T	ENSP00000348368:p.Gln173Lys						p.Q252K	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	754	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	173			Extracellular (Potential).		Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.754C>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.185097	0.00305	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.35973	1.28;1.28	5.57	0.456	0.16655	GPCR, rhodopsin-like superfamily (1);	1.065120	0.07380	N	0.887325	T	0.14442	0.0349	N	0.04959	-0.14	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28713	-1.0035	10	0.08599	T	0.76	.	3.8514	0.08957	0.1376:0.3619:0.3765:0.1241	.	173	Q8NGF1	O52R1_HUMAN	K	173;252	ENSP00000348368:Q173K;ENSP00000369742:Q252K	ENSP00000348368:Q173K	Q	-	1	0	OR52R1	4781670	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.391000	0.07323	-0.054000	0.13266	-0.172000	0.13284	CAA		0.552	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		9	91	1	0	0.00829132	0.008291	0.00856598	9	91				
OR52E2	119678	broad.mit.edu	37	11	5080090	5080090	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:5080090G>T	ENST00000321522.2	-	1	767	c.768C>A	c.(766-768)gcC>gcA	p.A256A		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGAAAAGAGGGCTGGTGTAT	0.473																																							uc010qyw.1		NA																	0				ovary(2)|skin(1)	3						c.(766-768)GCC>GCA		olfactory receptor, family 52, subfamily E,							88.0	88.0	88.0					11																	5080090		2201	4298	6499	SO:0001819	synonymous_variant	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080090G>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.768C>A	11.37:g.5080090G>T							p.A256A	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	768	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	256			Helical; Name=6; (Potential).			Silent	SNP	ENST00000321522.2	37	c.768C>A	CCDS31371.1																																																																																				0.473	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		31	41	1	0	2.61193e-14	0.009535	3.62043e-14	31	41				
OR52E6	390078	broad.mit.edu	37	11	5862504	5862504	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:5862504C>T	ENST00000329322.5	-	1	623	c.624G>A	c.(622-624)ttG>ttA	p.L208L	OR52E6_ENST00000379946.2_Silent_p.L212L|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCAATAACAAGAGAGAAA	0.478																																							uc010qzq.1		NA																	0				central_nervous_system(1)	1						c.(622-624)TTG>TTA		olfactory receptor, family 52, subfamily E,							63.0	63.0	63.0					11																	5862504		2201	4296	6497	SO:0001819	synonymous_variant	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862504C>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.624G>A	11.37:g.5862504C>T						TRIM5_uc001mbq.1_Intron	p.L208L	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	624	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	208			Helical; Name=5; (Potential).		Q6IFF8	Silent	SNP	ENST00000329322.5	37	c.624G>A	CCDS53597.1																																																																																				0.478	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		11	34	0	0	0	0.008291	0	11	34				
NLRP14	338323	broad.mit.edu	37	11	7060055	7060056	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:7060055_7060056GG>TT	ENST00000299481.4	+	2	584_585	c.238_239GG>TT	c.(238-240)GGc>TTc	p.G80F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	80	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)		CAAAATCTTTGGCAAGATGAAC	0.485																																							uc001mfb.1		NA																	0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(238-240)GGC>TTC		NLR family, pyrin domain containing 14																																				SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7060055_7060056GG>TT	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		Exception_encountered	11.37:g.7060055_7060056delinsTT	ENSP00000299481:p.Gly80Phe						p.G80F	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	561_562	+			80			DAPIN.		Q7RTR6	Missense_Mutation	DNP	ENST00000299481.4	37	c.238_239GG>TT	CCDS7776.1																																																																																				0.485	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		15	26	0	0	0	0.004672	0	15	26				
PLEKHA7	144100	broad.mit.edu	37	11	16848004	16848004	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:16848004C>T	ENST00000355661.3	-	10	1016	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E336K|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E336K|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	336					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCCTGCCTCTCGAAGTTGACA	0.617																																							uc001mmo.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1006-1008)GAG>AAG		pleckstrin homology domain containing, family A							95.0	82.0	87.0					11																	16848004		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16848004C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1006G>A	11.37:g.16848004C>T	ENSP00000347883:p.Glu336Lys					PLEKHA7_uc010rcu.1_Missense_Mutation_p.E336K|PLEKHA7_uc001mmn.2_Missense_Mutation_p.E44K	p.E336K	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			10	1021	-			336					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.1006G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	9.267	1.044767	0.19748	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.08720	3.07;3.06;3.06	5.15	4.22	0.49857	.	0.929287	0.09363	N	0.812457	T	0.06962	0.0177	L	0.32530	0.975	0.26764	N	0.969936	B;B;B	0.29341	0.242;0.103;0.001	B;B;B	0.18871	0.023;0.017;0.001	T	0.29488	-1.0010	10	0.36615	T	0.2	-18.9813	7.618	0.28169	0.0:0.8035:0.0:0.1965	.	336;336;336	E9PKC0;Q6IQ23;Q6IQ23-2	.;PKHA7_HUMAN;.	K	336	ENSP00000435389:E336K;ENSP00000347883:E336K;ENSP00000416895:E336K	ENSP00000347883:E336K	E	-	1	0	PLEKHA7	16804580	0.803000	0.28956	0.861000	0.33841	0.069000	0.16628	1.778000	0.38614	1.379000	0.46325	0.555000	0.69702	GAG		0.617	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		39	58	0	0	0	0.006999	0	39	58				
USH1C	10083	broad.mit.edu	37	11	17519757	17519757	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:17519757G>T	ENST00000318024.4	-	19	1650	c.1542C>A	c.(1540-1542)acC>acA	p.T514T	USH1C_ENST00000527720.1_Silent_p.T483T|USH1C_ENST00000527020.1_Silent_p.T495T|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000005226.7_Silent_p.T814T	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	514	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCTCAGCCAGGGTGTAGTCTG	0.577																																							uc001mnf.2		NA																	0				ovary(1)	1						c.(1540-1542)ACC>ACA		harmonin isoform a							243.0	193.0	210.0					11																	17519757		2200	4293	6493	SO:0001819	synonymous_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17519757G>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1542C>A	11.37:g.17519757G>T						USH1C_uc001mne.2_Silent_p.T814T|USH1C_uc009yhb.2_Silent_p.T495T|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.T478T	p.T514T	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			19	1651	-			514			PDZ 3.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.1542C>A	CCDS31438.1																																																																																				0.577	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		21	121	1	0	9.57634e-11	0.00333	1.21593e-10	21	121				
PTPN5	84867	broad.mit.edu	37	11	18759452	18759452	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:18759452C>G	ENST00000358540.2	-	9	1405	c.975G>C	c.(973-975)aaG>aaC	p.K325N	PTPN5_ENST00000396170.1_Missense_Mutation_p.K293N|PTPN5_ENST00000477854.1_Missense_Mutation_p.K129N|PTPN5_ENST00000396168.1_Missense_Mutation_p.K301N|PTPN5_ENST00000496201.2_5'Flank|PTPN5_ENST00000396167.2_Missense_Mutation_p.K293N|PTPN5_ENST00000396171.4_Missense_Mutation_p.K325N|RP11-1081L13.4_ENST00000527285.1_RNA	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	325	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGTACCGGTTCTTCCGCACCA	0.582																																							uc001mpd.2		NA																	0				ovary(2)	2						c.(973-975)AAG>AAC		protein-tyrosine-phosphatase non-receptor 5							157.0	127.0	137.0					11																	18759452		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18759452C>G	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.975G>C	11.37:g.18759452C>G	ENSP00000351342:p.Lys325Asn					PTPN5_uc001mpb.2_Missense_Mutation_p.K293N|PTPN5_uc001mpc.2_Missense_Mutation_p.K325N|PTPN5_uc001mpe.2_Missense_Mutation_p.K293N|PTPN5_uc010rdj.1_Missense_Mutation_p.K269N|PTPN5_uc001mpf.2_Missense_Mutation_p.K301N|PTPN5_uc010rdk.1_Missense_Mutation_p.K270N	p.K325N	NM_006906	NP_008837	P54829	PTN5_HUMAN			9	1406	-			325			Tyrosine-protein phosphatase.		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.975G>C	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235385	0.79800	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.25	4.33	0.51752	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.81300	-0.0995	10	0.87932	D	0	.	9.6189	0.39710	0.0:0.8441:0.0:0.1559	.	325;293	P54829;B3KXG7	PTN5_HUMAN;.	N	129;325;293;325;293;301	ENSP00000435056:K129N;ENSP00000351342:K325N;ENSP00000379473:K293N;ENSP00000379474:K325N;ENSP00000379470:K293N;ENSP00000379471:K301N	ENSP00000351342:K325N	K	-	3	2	PTPN5	18716028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.738000	0.55067	2.460000	0.83146	0.563000	0.77884	AAG		0.582	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		11	48	0	0	0	0.000978	0	11	48				
NAV2	89797	broad.mit.edu	37	11	20066601	20066601	+	Missense_Mutation	SNP	G	G	A	rs146962426		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:20066601G>A	ENST00000396087.3	+	15	3455	c.3356G>A	c.(3355-3357)cGg>cAg	p.R1119Q	NAV2_ENST00000349880.4_Missense_Mutation_p.R1096Q|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000396085.1_Missense_Mutation_p.R1096Q|NAV2_ENST00000311043.8_Missense_Mutation_p.R182Q|NAV2_ENST00000527559.2_Missense_Mutation_p.R1048Q|NAV2_ENST00000533917.1_Missense_Mutation_p.R182Q|NAV2_ENST00000540292.1_Missense_Mutation_p.R1050Q|NAV2_ENST00000360655.4_Missense_Mutation_p.R1032Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1119					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GATGCAGGCCGGAGCAGTGGT	0.542																																							uc010rdm.1		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(3355-3357)CGG>CAG		neuron navigator 2 isoform 2		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	63.0	65.0		3095,545,3287,3287	5.4	1.0	11	dbSNP_134	65	0,8600		0,0,4300	no	missense,missense,missense,missense	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1032/2366,182/1494,1096/2430,1096/2433	20066601	1,13005	2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20066601G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3356G>A	11.37:g.20066601G>A	ENSP00000379396:p.Arg1119Gln					NAV2_uc001mpp.2_Missense_Mutation_p.R1032Q|NAV2_uc001mpr.3_Missense_Mutation_p.R1096Q|NAV2_uc001mpt.2_Missense_Mutation_p.R182Q|NAV2_uc009yhx.2_Missense_Mutation_p.R182Q|NAV2_uc009yhy.1_Missense_Mutation_p.R95Q	p.R1119Q	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			15	3717	+			1119					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.3356G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046744	0.93740	2.27E-4	0.0	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.63931	0.2553	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.994;1.0	D;D;D;P;D	0.85130	0.996;0.99;0.993;0.895;0.997	T	0.60255	-0.7299	9	.	.	.	.	19.6575	0.95849	0.0:0.0:1.0:0.0	.	1119;182;182;1096;1032	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	Q	1032;1096;1096;1119;1048;1050;182;182;182;182	ENSP00000353871:R1032Q;ENSP00000379394:R1096Q;ENSP00000309577:R1096Q;ENSP00000379396:R1119Q;ENSP00000435395:R1048Q;ENSP00000443489:R1050Q;ENSP00000437316:R182Q;ENSP00000437136:R182Q;ENSP00000312169:R182Q	.	R	+	2	0	NAV2	20023177	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.728000	0.93425	0.650000	0.86243	CGG		0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	67	0	0	0	0.001368	0	9	67				
NELL1	4745	broad.mit.edu	37	11	21392425	21392425	+	Missense_Mutation	SNP	G	G	C	rs8176788	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:21392425G>C	ENST00000357134.5	+	15	1728	c.1576G>C	c.(1576-1578)Ggt>Cgt	p.G526R	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.G469R|NELL1_ENST00000298925.5_Missense_Mutation_p.G554R|NELL1_ENST00000532434.1_Missense_Mutation_p.G526R	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	526	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGCAGATACGGTGGAACGTG	0.438																																							uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1576-1578)GGT>CGT		nel-like 1 isoform 1 precursor							107.0	97.0	100.0					11																	21392425		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21392425G>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1576G>C	11.37:g.21392425G>C	ENSP00000349654:p.Gly526Arg					NELL1_uc001mqf.2_Missense_Mutation_p.G526R|NELL1_uc009yid.2_Missense_Mutation_p.G554R|NELL1_uc010rdo.1_Missense_Mutation_p.G469R|NELL1_uc010rdp.1_Missense_Mutation_p.G286R|NELL1_uc001mqg.2_RNA|NELL1_uc001mqh.2_Silent_p.T135T	p.G526R	NM_006157	NP_006148	Q92832	NELL1_HUMAN			15	1729	+			526			EGF-like 4.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1576G>C	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521072	0.85495	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.93604	-1.68;-1.65;-1.55;-3.25	5.74	5.74	0.90152	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	M	0.88704	2.975	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;1.0;1.0;0.999	D	0.97487	1.0051	10	0.62326	D	0.03	-19.4277	18.7044	0.91632	0.0:0.0:1.0:0.0	.	469;554;526;526	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	R	554;526;469;526	ENSP00000298925:G554R;ENSP00000349654:G526R;ENSP00000317837:G469R;ENSP00000437170:G526R	ENSP00000298925:G554R	G	+	1	0	NELL1	21349001	1.000000	0.71417	0.810000	0.32431	0.864000	0.49448	8.192000	0.89718	2.714000	0.92807	0.650000	0.86243	GGT		0.438	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		3	26	0	0	0	0.009096	0	3	26				
BBOX1	8424	broad.mit.edu	37	11	27141304	27141304	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:27141304C>A	ENST00000529202.1	+	6	1087	c.748C>A	c.(748-750)Cag>Aag	p.Q250K	RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.Q250K|BBOX1_ENST00000525090.1_Missense_Mutation_p.Q250K|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000263182.3_Missense_Mutation_p.Q250K|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000527505.1_3'UTR			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	250					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TCAGGCATTCCAGATTTTGTC	0.348																																							uc001mre.1		NA																	0				ovary(1)	1						c.(748-750)CAG>AAG		gamma-butyrobetaine dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						81.0	86.0	85.0					11																	27141304		2202	4299	6501	SO:0001583	missense	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27141304C>A	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.748C>A	11.37:g.27141304C>A	ENSP00000435781:p.Gln250Lys					BBOX1_uc009yih.1_Missense_Mutation_p.Q250K|BBOX1_uc001mrg.1_Missense_Mutation_p.Q250K	p.Q250K	NM_003986	NP_003977	O75936	BODG_HUMAN			7	1116	+			250					B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	c.748C>A	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	C	4.178	0.031661	0.08101	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.37	4.45	0.53987	.	0.459579	0.27072	N	0.021070	T	0.61825	0.2378	N	0.12637	0.245	0.33966	D	0.646287	B	0.02656	0.0	B	0.06405	0.002	T	0.61729	-0.7003	10	0.23302	T	0.38	.	8.2853	0.31924	0.1538:0.7654:0.0:0.0808	.	250	O75936	BODG_HUMAN	K	250	ENSP00000435781:Q250K;ENSP00000263182:Q250K;ENSP00000434918:Q250K;ENSP00000433772:Q250K	ENSP00000263182:Q250K	Q	+	1	0	BBOX1	27097880	0.993000	0.37304	0.958000	0.39756	0.409000	0.31022	1.116000	0.31221	1.253000	0.44018	0.585000	0.79938	CAG		0.348	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		20	20	1	0	2.21704e-12	0.00278	2.92672e-12	20	20				
ELP4	26610	broad.mit.edu	37	11	31531535	31531535	+	Silent	SNP	A	A	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:31531535A>C	ENST00000350638.5	+	1	239	c.204A>C	c.(202-204)ccA>ccC	p.P68P	IMMP1L_ENST00000278200.1_5'Flank|ELP4_ENST00000395934.2_Silent_p.P68P|IMMP1L_ENST00000532287.1_5'Flank|ELP4_ENST00000379163.5_Silent_p.P68P|IMMP1L_ENST00000533642.1_5'Flank|IMMP1L_ENST00000534812.1_5'Flank|IMMP1L_ENST00000528161.1_5'Flank|IMMP1L_ENST00000526776.1_5'Flank	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	68					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CCGGGCTCCCAGCCCTAGACC	0.642																																							uc001mtb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3						c.(202-204)CCA>CCC		elongation protein 4 homolog							34.0	37.0	36.0					11																	31531535		1914	4116	6030	SO:0001819	synonymous_variant	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31531535A>C	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.204A>C	11.37:g.31531535A>C						IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.P68P|ELP4_uc010rdz.1_Silent_p.P68P|IMMP1L_uc009yjo.2_5'Flank|IMMP1L_uc009yjp.2_5'Flank	p.P68P	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN			1	239	+	Lung SC(675;0.225)		68					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Silent	SNP	ENST00000350638.5	37	c.204A>C	CCDS7875.2																																																																																				0.642	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		21	36	0	0	0	0.010504	0	21	36				
OR5L2	26338	broad.mit.edu	37	11	55595459	55595459	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:55595459C>A	ENST00000378397.1	+	1	765	c.765C>A	c.(763-765)atC>atA	p.I255I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATGGAACAATCCTTTACATTT	0.507										HNSCC(27;0.073)																													uc001nhy.1		NA																	0				ovary(1)	1						c.(763-765)ATC>ATA		olfactory receptor, family 5, subfamily L,							130.0	117.0	122.0					11																	55595459		2200	4296	6496	SO:0001819	synonymous_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595459C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.765C>A	11.37:g.55595459C>A		HNSCC(27;0.073)					p.I255I	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	765	+		all_epithelial(135;0.208)	255			Helical; Name=6; (Potential).		Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	c.765C>A	CCDS31511.1																																																																																				0.507	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		48	51	1	0	2.76378e-25	0.00361	4.36433e-25	48	51				
OR8H2	390151	broad.mit.edu	37	11	55872770	55872770	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:55872770G>A	ENST00000313503.1	+	1	252	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	84						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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAACCTTAGCGAACTTACTGA	0.438										HNSCC(53;0.14)																													uc010riy.1		NA																	0				ovary(1)|skin(1)	2						c.(250-252)GCG>GCA		olfactory receptor, family 8, subfamily H,							283.0	286.0	285.0					11																	55872770		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872770G>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.252G>A	11.37:g.55872770G>A		HNSCC(53;0.14)					p.A84A	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	252	+	Esophageal squamous(21;0.00693)		84			Extracellular (Potential).		Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.252G>A	CCDS31518.1																																																																																				0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		17	396	0	0	0	0.006122	0	17	396				
OR10Q1	219960	broad.mit.edu	37	11	57995427	57995427	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:57995427C>T	ENST00000316770.2	-	1	963	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TAATGGCACTCCTCAGAGCAC	0.502																																							uc010rkd.1		NA																	0				ovary(2)	2						c.(919-921)AGG>AGA		olfactory receptor, family 10, subfamily Q,							174.0	169.0	170.0					11																	57995427		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995427C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.921G>A	11.37:g.57995427C>T							p.R307R	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	921	-		Breast(21;0.0589)	307			Cytoplasmic (Potential).		Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.921G>A	CCDS31547.1																																																																																				0.502	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		24	172	0	0	0	0.002299	0	24	172				
CPSF7	79869	broad.mit.edu	37	11	61178472	61178472	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:61178472T>A	ENST00000394888.4	-	9	1531	c.1359A>T	c.(1357-1359)caA>caT	p.Q453H	CPSF7_ENST00000448745.1_Missense_Mutation_p.Q444H|CPSF7_ENST00000340437.4_Missense_Mutation_p.Q496H|CPSF7_ENST00000439958.3_Missense_Mutation_p.Q444H	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	453	Arg-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGTTCCTTTCTTGGAAATAAT	0.577																																							uc001nrq.2		NA																	0				central_nervous_system(1)	1						c.(1357-1359)CAA>CAT		pre-mRNA cleavage factor I, 59 kDa subunit							119.0	124.0	122.0					11																	61178472		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61178472T>A		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.1359A>T	11.37:g.61178472T>A	ENSP00000378352:p.Gln453His					CPSF7_uc001nro.2_Missense_Mutation_p.Q444H|CPSF7_uc001nrp.2_Missense_Mutation_p.Q496H|CPSF7_uc001nrr.2_Missense_Mutation_p.Q444H	p.Q453H	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN			9	1493	-			453			Arg-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.1359A>T	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.610624	0.87258	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147	T;T;T;T	0.05580	3.42;3.42;3.42;3.42	5.95	2.47	0.30058	.	0.386459	0.29730	N	0.011351	T	0.09069	0.0224	N	0.22421	0.69	0.80722	D	1	D;P;D	0.64830	0.989;0.589;0.994	P;B;P	0.56865	0.648;0.346;0.808	T	0.12400	-1.0549	10	0.72032	D	0.01	-0.6064	8.5012	0.33159	0.0:0.4282:0.0:0.5718	.	453;496;444	Q8N684;Q8N684-3;Q8N684-2	CPSF7_HUMAN;.;.	H	496;453;444;444;219	ENSP00000345412:Q496H;ENSP00000378352:Q453H;ENSP00000397203:Q444H;ENSP00000407394:Q444H	ENSP00000345412:Q496H	Q	-	3	2	CPSF7	60935048	0.652000	0.27349	0.996000	0.52242	0.996000	0.88848	-0.140000	0.10342	0.187000	0.20147	0.533000	0.62120	CAA		0.577	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		14	210	0	0	0	0.00499	0	14	210				
AHNAK	79026	broad.mit.edu	37	11	62293335	62293335	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:62293335C>A	ENST00000378024.4	-	5	8828	c.8554G>T	c.(8554-8556)Gat>Tat	p.D2852Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2852					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCCACATCTCCTTTTATT	0.423																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8554-8556)GAT>TAT		AHNAK nucleoprotein isoform 1							172.0	172.0	172.0					11																	62293335		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293335C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8554G>T	11.37:g.62293335C>A	ENSP00000367263:p.Asp2852Tyr					AHNAK_uc001ntk.1_Intron	p.D2852Y	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8854	-		Melanoma(852;0.155)	2852					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8554G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	16.00	2.999828	0.54147	.	.	ENSG00000124942	ENST00000378024	T	0.03441	3.93	3.48	2.55	0.30701	.	.	.	.	.	T	0.22898	0.0553	H	0.96489	3.83	0.43287	D	0.995261	D	0.71674	0.998	D	0.63877	0.919	T	0.09662	-1.0664	9	0.66056	D	0.02	-5.6256	10.357	0.43969	0.0:0.8982:0.0:0.1018	.	2852	Q09666	AHNK_HUMAN	Y	2852	ENSP00000367263:D2852Y	ENSP00000367263:D2852Y	D	-	1	0	AHNAK	62049911	0.992000	0.36948	0.031000	0.17742	0.754000	0.42855	2.494000	0.45329	0.552000	0.29026	0.450000	0.29827	GAT		0.423	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		68	176	1	0	1.20466e-24	0.00361	1.88441e-24	68	176				
AHNAK	79026	broad.mit.edu	37	11	62300119	62300119	+	Silent	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:62300119T>A	ENST00000378024.4	-	5	2044	c.1770A>T	c.(1768-1770)acA>acT	p.T590T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	590					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTCTGGGGAGTGTGACATCTA	0.512																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(1768-1770)ACA>ACT		AHNAK nucleoprotein isoform 1							71.0	66.0	68.0					11																	62300119		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62300119T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1770A>T	11.37:g.62300119T>A						AHNAK_uc001ntk.1_Intron	p.T590T	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	2070	-		Melanoma(852;0.155)	590					A1A586	Silent	SNP	ENST00000378024.4	37	c.1770A>T	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		27	73	0	0	0	0.003954	0	27	73				
LGALS12	85329	broad.mit.edu	37	11	63279290	63279290	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:63279290C>A	ENST00000394618.3	+	7	982	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	LGALS12_ENST00000415491.2_Missense_Mutation_p.L170M|LGALS12_ENST00000340246.5_Missense_Mutation_p.L232M|LGALS12_ENST00000255684.5_Missense_Mutation_p.L222M|LGALS12_ENST00000425950.2_Missense_Mutation_p.L161M	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	231	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						AGTACGGGGACTGGTCTTGCA	0.522																																							uc001nxa.2		NA																	0				ovary(2)	2						c.(691-693)CTG>ATG		lectin, galactoside-binding, soluble, 12 isoform							105.0	88.0	94.0					11																	63279290		2201	4298	6499	SO:0001583	missense	85329				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	g.chr11:63279290C>A	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.691C>A	11.37:g.63279290C>A	ENSP00000378116:p.Leu231Met					LGALS12_uc001nxb.2_Missense_Mutation_p.L222M|LGALS12_uc001nxc.2_Missense_Mutation_p.L232M|LGALS12_uc001nxd.2_Missense_Mutation_p.L170M|LGALS12_uc001nxe.2_Missense_Mutation_p.L161M|LGALS12_uc009yot.2_Missense_Mutation_p.L191M	p.L231M	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN			7	1032	+			231			Galectin 2.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000394618.3	37	c.691C>A	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434204	0.43224	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42	4.89	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (3);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.42294	D	0.000730	T	0.19685	0.0473	L	0.60455	1.87	0.37425	D	0.913772	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.99;0.983;0.977;0.99	T	0.02109	-1.1212	10	0.34782	T	0.22	-18.4439	13.9033	0.63819	0.0:1.0:0.0:0.0	.	191;232;222;231	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	M	222;231;232;170;161	ENSP00000255684:L222M;ENSP00000378116:L231M;ENSP00000339374:L232M;ENSP00000394659:L170M;ENSP00000399093:L161M	ENSP00000255684:L222M	L	+	1	2	LGALS12	63035866	0.867000	0.29959	0.995000	0.50966	0.061000	0.15899	1.400000	0.34577	2.423000	0.82170	0.462000	0.41574	CTG		0.522	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101		26	73	1	0	3.1745e-13	0.008361	4.26974e-13	26	73				
GRM5	2915	broad.mit.edu	37	11	88300349	88300349	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:88300349G>T	ENST00000305447.4	-	7	2651	c.2502C>A	c.(2500-2502)cgC>cgA	p.R834R	GRM5_ENST00000305432.5_Silent_p.R834R|GRM5_ENST00000455756.2_Silent_p.R834R|GRM5_ENST00000393297.1_Silent_p.R834R|GRM5_ENST00000418177.2_Silent_p.R834R	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	834					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TGAAGGCGCTGCGCACGTTTC	0.572																																							uc001pcq.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(2500-2502)CGC>CGA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						137.0	107.0	117.0					11																	88300349		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300349G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2502C>A	11.37:g.88300349G>T						GRM5_uc009yvm.2_Silent_p.R834R	p.R834R	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			7	2702	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	834			Cytoplasmic (Potential).		Q6J164	Silent	SNP	ENST00000305447.4	37	c.2502C>A	CCDS44694.1																																																																																				0.572	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		22	69	1	0	4.35082e-09	0.010504	5.30821e-09	22	69				
TYR	7299	broad.mit.edu	37	11	89028428	89028428	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:89028428T>A	ENST00000263321.5	+	5	1986	c.1484T>A	c.(1483-1485)cTt>cAt	p.L495H		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	495				L -> P (in Ref. 2; AAA61241/AAA61244). {ECO:0000305}.	cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CTGGCAGGGCTTGTGAGCTTG	0.537																																							uc001pcs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1483-1485)CTT>CAT		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						34.0	37.0	36.0					11																	89028428		2200	4299	6499	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:89028428T>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1484T>A	11.37:g.89028428T>A	ENSP00000263321:p.Leu495His						p.L495H	NM_000372	NP_000363	P14679	TYRO_HUMAN			5	1566	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	495	L -> P (in Ref. 2; AAA61241/AAA61244).		Helical; (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.1484T>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341540	0.41498	.	.	ENSG00000077498	ENST00000263321	D	0.99239	-5.61	5.02	5.02	0.67125	.	0.385573	0.22940	N	0.053781	D	0.98899	0.9627	M	0.72118	2.19	0.09310	N	1	D	0.59767	0.986	P	0.53722	0.733	D	0.96787	0.9579	9	.	.	.	.	14.012	0.64503	0.0:0.0:0.0:1.0	.	495	P14679	TYRO_HUMAN	H	495	ENSP00000263321:L495H	.	L	+	2	0	TYR	88668076	0.093000	0.21703	0.002000	0.10522	0.090000	0.18270	3.431000	0.52814	2.013000	0.59113	0.374000	0.22700	CTT		0.537	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		14	33	0	0	0	0.004007	0	14	33				
PGR	5241	broad.mit.edu	37	11	100933417	100933417	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:100933417T>C	ENST00000325455.5	-	4	3426	c.1973A>G	c.(1972-1974)cAg>cGg	p.Q658R	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.Q64R	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	658					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GCCCACTGGCTGTGGGAGAGC	0.408																																					Pancreas(124;2271 2354 21954 22882)	Pancreas(124;2271 2354 21954 22882)	uc001pgh.2		NA																	0				lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(1972-1974)CAG>CGG		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						116.0	101.0	106.0					11																	100933417		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100933417T>C	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1973A>G	11.37:g.100933417T>C	ENSP00000325120:p.Gln658Arg					PGR_uc001pgg.2_Missense_Mutation_p.Q39R|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	p.Q658R	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	4	2716	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	658					A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1973A>G	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.291071	0.59976	.	.	ENSG00000082175	ENST00000325455;ENST00000534013	D;D	0.86769	-1.79;-2.17	5.41	5.41	0.78517	Nuclear hormone receptor, ligand-binding (1);	0.444786	0.25329	N	0.031447	D	0.90745	0.7095	M	0.64170	1.965	0.80722	D	1	D;P	0.53745	0.962;0.936	P;P	0.61201	0.718;0.885	D	0.90869	0.4744	10	0.56958	D	0.05	.	11.4341	0.50058	0.0:0.0:0.1507:0.8493	.	658;39	P06401;A7LQ08	PRGR_HUMAN;.	R	658;64	ENSP00000325120:Q658R;ENSP00000436561:Q64R	ENSP00000325120:Q658R	Q	-	2	0	PGR	100438627	1.000000	0.71417	0.973000	0.42090	0.687000	0.40016	3.492000	0.53259	2.032000	0.59987	0.482000	0.46254	CAG		0.408	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			16	118	0	0	0	0.003163	0	16	118				
MMP8	4317	broad.mit.edu	37	11	102585338	102585338	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:102585338G>A	ENST00000236826.3	-	8	1237	c.1139C>T	c.(1138-1140)gCt>gTt	p.A380V		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	380					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	GTAGAAAACAGCTGCGTCAAT	0.383																																							uc001phe.2		NA																	0				ovary(3)|breast(1)	4						c.(1138-1140)GCT>GTT		matrix metalloproteinase 8 preproprotein							73.0	71.0	72.0					11																	102585338		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102585338G>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1139C>T	11.37:g.102585338G>A	ENSP00000236826:p.Ala380Val					MMP8_uc010rut.1_Intron|MMP8_uc010ruu.1_Missense_Mutation_p.A357V	p.A380V	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	8	1238	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	380			Hemopexin-like 3.		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.1139C>T	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694957	0.88830	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	T	0.37584	1.19	5.58	5.58	0.84498	Hemopexin/matrixin (2);	0.000000	0.56097	D	0.000027	T	0.65091	0.2658	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.959;0.996	T	0.68804	-0.5312	10	0.87932	D	0	.	19.1912	0.93667	0.0:0.0:1.0:0.0	.	380;380	A8K9E4;P22894	.;MMP8_HUMAN	V	380;357	ENSP00000236826:A380V	ENSP00000236826:A380V	A	-	2	0	MMP8	102090548	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	6.639000	0.74314	2.623000	0.88846	0.585000	0.79938	GCT		0.383	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		21	41	0	0	0	0.001882	0	21	41				
DIXDC1	85458	broad.mit.edu	37	11	111844948	111844948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:111844948C>A	ENST00000529225.1	+	5	795	c.515C>A	c.(514-516)tCa>tAa	p.S172*	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000440460.2_Nonsense_Mutation_p.S173*|DIXDC1_ENST00000531396.1_Nonsense_Mutation_p.S173*	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	173	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ATGTCCCGATCAGGACGGGAT	0.532																																							uc001pml.2		NA																	0				ovary(1)	1						c.(517-519)TCA>TAA		DIX domain containing 1 isoform a							50.0	49.0	49.0					11																	111844948		2039	4178	6217	SO:0001587	stop_gained	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111844948C>A	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000529225.1:c.515C>A	11.37:g.111844948C>A	ENSP00000434130:p.Ser172*					DIXDC1_uc001pmj.2_Nonsense_Mutation_p.S166*|DIXDC1_uc001pmk.2_Nonsense_Mutation_p.S173*	p.S173*	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	4	815	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	173			Actin-binding.		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Nonsense_Mutation	SNP	ENST00000529225.1	37	c.518C>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.404242	0.83230	.	.	ENSG00000150764	ENST00000529225;ENST00000440460;ENST00000531396	.	.	.	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.6021	20.2786	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	172;173;173	.	ENSP00000394352:S173X	S	+	2	0	DIXDC1	111350158	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.236000	0.65354	2.868000	0.98415	0.557000	0.71058	TCA		0.532	DIXDC1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391831.1	NM_001037954		5	17	1	0	0.000602214	0.000602	0.000642105	5	17				
NXPE2	120406	broad.mit.edu	37	11	114569400	114569400	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:114569400G>A	ENST00000389586.4	+	3	956	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	NXPE2_ENST00000375475.5_Missense_Mutation_p.V256M	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	256						integral component of membrane (GO:0016021)											CTTCTACTGTGTGAGGCCTCA	0.473																																							uc009yyy.2		NA																	0				ovary(1)	1						c.(766-768)GTG>ATG		hypothetical protein LOC120406							93.0	76.0	81.0					11																	114569400		692	1591	2283	SO:0001583	missense	120406					integral to membrane		g.chr11:114569400G>A	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.766G>A	11.37:g.114569400G>A	ENSP00000374237:p.Val256Met						p.V256M	NM_182495	NP_872301	Q96DL1	FA55B_HUMAN			3	864	+			256					Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	c.766G>A	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254740	0.39896	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.18338	2.69;2.22	4.55	-2.81	0.05805	.	1.972890	0.02685	N	0.110031	T	0.13500	0.0327	L	0.45422	1.42	0.09310	N	1	B	0.32382	0.368	B	0.35353	0.201	T	0.12785	-1.0534	10	0.30854	T	0.27	.	0.3323	0.00320	0.3571:0.1345:0.2194:0.2891	.	256	Q96DL1	FA55B_HUMAN	M	256	ENSP00000374237:V256M;ENSP00000364624:V256M	ENSP00000364624:V256M	V	+	1	0	FAM55B	114074610	0.003000	0.15002	0.148000	0.22405	0.870000	0.49936	-0.476000	0.06591	-0.680000	0.05211	0.591000	0.81541	GTG		0.473	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		19	35	0	0	0	0.006122	0	19	35				
PVRL1	5818	broad.mit.edu	37	11	119510581	119510581	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:119510581C>A	ENST00000341398.2	-	6	1144	c.1145G>T	c.(1144-1146)gGg>gTg	p.G382V	RP11-196E1.3_ENST00000532153.1_RNA|RP11-196E1.3_ENST00000601999.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TCACCCGGCCCCATCCGTCTC	0.607																																							uc001pwu.1		NA																	0					0						c.(1144-1146)GGG>GTG		poliovirus receptor-related 1 isoform 2							37.0	40.0	39.0					11																	119510581		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119510581C>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000341398.2:c.1145G>T	11.37:g.119510581C>A	ENSP00000344974:p.Gly382Val						p.G382V	NM_203285	NP_976030	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1317	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Error:Variant_position_missing_in_Q15223_after_alignment					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000341398.2	37	c.1145G>T	CCDS8425.1	.	.	.	.	.	.	.	.	.	.	C	9.048	0.991419	0.18966	.	.	ENSG00000110400	ENST00000341398	T	0.75260	-0.92	3.82	-1.31	0.09230	.	.	.	.	.	T	0.62233	0.2411	L	0.51422	1.61	0.09310	N	1	B	0.15141	0.012	B	0.16289	0.015	T	0.45190	-0.9278	9	0.16896	T	0.51	.	7.5693	0.27898	0.1836:0.3172:0.4992:0.0	.	382	Q15223-2	.	V	382	ENSP00000344974:G382V	ENSP00000344974:G382V	G	-	2	0	PVRL1	119015791	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.006000	0.13152	-0.334000	0.08463	0.462000	0.41574	GGG		0.607	PVRL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388230.1			43	37	1	0	1.30916e-28	0.00361	2.10733e-28	43	37				
UBASH3B	84959	broad.mit.edu	37	11	122650373	122650373	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:122650373G>T	ENST00000284273.5	+	4	946	c.571G>T	c.(571-573)Gac>Tac	p.D191Y		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	191					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GTTTGCTGCTGACTTTGCTGC	0.547																																							uc001pyi.3		NA																	0				central_nervous_system(1)	1						c.(571-573)GAC>TAC		ubiquitin associated and SH3 domain containing,							71.0	71.0	71.0					11																	122650373		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122650373G>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.571G>T	11.37:g.122650373G>T	ENSP00000284273:p.Asp191Tyr						p.D191Y	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	4	931	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	191					Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.571G>T	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799856	0.90538	.	.	ENSG00000154127	ENST00000284273	T	0.45276	0.9	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	L	0.51422	1.61	0.80722	D	1	D	0.65815	0.995	P	0.62089	0.898	T	0.60816	-0.7188	10	0.66056	D	0.02	-7.738	18.6913	0.91583	0.0:0.0:1.0:0.0	.	191	Q8TF42	UBS3B_HUMAN	Y	191	ENSP00000284273:D191Y	ENSP00000284273:D191Y	D	+	1	0	UBASH3B	122155583	1.000000	0.71417	0.943000	0.38184	0.981000	0.71138	9.869000	0.99810	2.403000	0.81681	0.650000	0.86243	GAC		0.547	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		12	37	1	0	1.05317e-09	0.00245	1.30405e-09	12	37				
HSPA8	3312	broad.mit.edu	37	11	122931888	122931888	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:122931888G>A	ENST00000532636.1	-	2	264	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	HSPA8_ENST00000526110.1_Missense_Mutation_p.R49W|HSPA8_ENST00000534319.1_5'Flank|HSPA8_ENST00000453788.2_Missense_Mutation_p.R49W|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.R49W|HSPA8_ENST00000533540.1_Missense_Mutation_p.R49W|HSPA8_ENST00000534624.1_Missense_Mutation_p.R49W|SNORD14C_ENST00000365382.1_RNA|SNORD14D_ENST00000384390.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	49					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		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;0.0279)		CCGATCAACCGTTCAGTGTCC	0.443																																					Colon(21;486 594 5900 6733 14272)	Colon(21;486 594 5900 6733 14272)	uc001pyo.2		NA																	0				central_nervous_system(7)|lung(1)	8						c.(145-147)CGG>TGG		heat shock 70kDa protein 8 isoform 1							95.0	79.0	84.0					11																	122931888		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122931888G>A	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.145C>T	11.37:g.122931888G>A	ENSP00000437125:p.Arg49Trp					HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Missense_Mutation_p.R49W|HSPA8_uc010rzu.1_Missense_Mutation_p.R49W|HSPA8_uc009zbd.1_Missense_Mutation_p.R49W|HSPA8_uc010rzv.1_Missense_Mutation_p.R49W	p.R49W	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	2	223	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	49					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.145C>T	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413438	0.62511	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.04603	5.09;5.09;5.09;5.09;5.09;5.09;3.59;5.09;5.09;5.09;5.09;5.09;5.09	4.42	3.49	0.39957	.	0.061954	0.64402	D	0.000012	T	0.42381	0.1200	H	0.99981	5.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.998;1.0	D;D;P;B;D	0.78314	0.965;0.991;0.534;0.399;0.991	T	0.66689	-0.5860	10	0.87932	D	0	-4.4786	11.6528	0.51299	0.0:0.0:0.511:0.489	.	49;49;49;49;49	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	W	49	ENSP00000437125:R49W;ENSP00000437189:R49W;ENSP00000432083:R49W;ENSP00000404372:R49W;ENSP00000227378:R49W;ENSP00000433584:R49W;ENSP00000436762:R49W;ENSP00000435154:R49W;ENSP00000431641:R49W;ENSP00000436183:R49W;ENSP00000434415:R49W;ENSP00000434565:R49W;ENSP00000434851:R49W	ENSP00000227378:R49W	R	-	1	2	HSPA8	122437098	1.000000	0.71417	0.982000	0.44146	0.627000	0.37826	2.774000	0.47694	0.937000	0.37394	0.484000	0.47621	CGG		0.443	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			20	21	0	0	0	0.008871	0	20	21				
Unknown	0	broad.mit.edu	37	11	124095815	124095815	+	IGR	SNP	T	T	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:124095815T>G								OR10D3 (38863 upstream) : OR8G1 (24607 downstream)																							TGTTGCCATCTGCAGCCCCTT	0.458																																							uc010saf.1		NA																	0					0						c.(418-420)TGC>GGC		olfactory receptor, family 8, subfamily G,							204.0	203.0	204.0					11																	124095815		2169	4295	6464	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124095815T>G																													11.37:g.124095815T>G							p.C140G	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	418	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	140						Missense_Mutation	SNP		37	c.418T>G																																																																																				0	0.458									45	81	0	0	0	0.009718	0	45	81				
NANOG	79923	broad.mit.edu	37	12	7942359	7942359	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:7942359C>A	ENST00000229307.4	+	1	368	c.149C>A	c.(148-150)aCt>aAt	p.T50N	NANOG_ENST00000526286.1_Missense_Mutation_p.T50N	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	50					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CACACGGAGACTGGTAAGAAA	0.438																																							uc009zfy.1		NA																	0					0						c.(148-150)ACT>AAT		Nanog homeobox							86.0	81.0	83.0					12																	7942359		2203	4300	6503	SO:0001583	missense	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7942359C>A	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.149C>A	12.37:g.7942359C>A	ENSP00000229307:p.Thr50Asn						p.T50N	NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	1	365	+			50					D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	c.149C>A	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	15.55	2.867298	0.51588	.	.	ENSG00000111704	ENST00000541267;ENST00000229307;ENST00000526286	D;D;D	0.91631	-2.83;-2.88;-2.87	3.24	3.24	0.37175	.	0.273131	0.27841	N	0.017625	D	0.87313	0.6146	M	0.61703	1.905	0.24797	N	0.99272	P	0.35328	0.495	B	0.28139	0.086	T	0.77443	-0.2586	10	0.22706	T	0.39	-0.883	10.2533	0.43381	0.0:1.0:0.0:0.0	.	50	Q9H9S0	NANOG_HUMAN	N	26;50;50	ENSP00000444434:T26N;ENSP00000229307:T50N;ENSP00000435288:T50N	ENSP00000229307:T50N	T	+	2	0	NANOG	7833626	0.335000	0.24748	0.835000	0.33067	0.073000	0.16967	0.467000	0.22035	2.109000	0.64355	0.462000	0.41574	ACT		0.438	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		56	48	1	0	7.91745e-34	0.00361	1.31694e-33	56	48				
OR8S1	341568	broad.mit.edu	37	12	48921852	48921852	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:48921852C>A	ENST00000310194.1	+	2	1046	c.1046C>A	c.(1045-1047)tCc>tAc	p.S349Y	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	349						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						TGCGCATGCTCCGCGCTGCGC	0.657																																							uc010slu.1		NA																	0				skin(1)	1						c.(1045-1047)TCC>TAC		olfactory receptor, family 8, subfamily S,							11.0	13.0	13.0					12																	48921852		2191	4290	6481	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48921852C>A		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.1046C>A	12.37:g.48921852C>A	ENSP00000310632:p.Ser349Tyr						p.S349Y	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			2	1046	+			349			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000310194.1	37	c.1046C>A	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330662	0.24167	.	.	ENSG00000197376	ENST00000310194	T	0.03772	3.81	0.158	0.158	0.14942	.	.	.	.	.	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	P	0.46578	0.88	P	0.49361	0.608	T	0.44236	-0.9341	8	0.59425	D	0.04	.	.	.	.	.	349	Q8NH09	OR8S1_HUMAN	Y	349	ENSP00000310632:S349Y	ENSP00000310632:S349Y	S	+	2	0	OR8S1	47208119	0.433000	0.25562	0.040000	0.18447	0.041000	0.13682	0.775000	0.26689	0.202000	0.20498	0.205000	0.17691	TCC		0.657	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			13	11	1	0	1.5842e-08	0.001855	1.90486e-08	13	11				
ACVRL1	94	broad.mit.edu	37	12	52314573	52314573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:52314573G>T	ENST00000388922.4	+	10	1691	c.1408G>T	c.(1408-1410)Gag>Tag	p.E470*	ACVRL1_ENST00000550683.1_Nonsense_Mutation_p.E484*|ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.E296*	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	470	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GATGATGCGGGAGTGCTGGTA	0.562																																							uc001rzj.2		NA																	0				lung(2)	2	GRCh37	CM050032	ACVRL1	M		c.(1408-1410)GAG>TAG		activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)						66.0	62.0	63.0					12																	52314573		2203	4300	6503	SO:0001587	stop_gained	94	Hereditary_Hemorrhagic_Telangiectasia			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52314573G>T	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1408G>T	12.37:g.52314573G>T	ENSP00000373574:p.Glu470*					ACVRL1_uc001rzk.2_Nonsense_Mutation_p.E470*|ACVRL1_uc010snm.1_Nonsense_Mutation_p.E296*	p.E470*	NM_000020	NP_000011	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	10	1691	+			470			Cytoplasmic (Potential).|Protein kinase.		A6NGA8	Nonsense_Mutation	SNP	ENST00000388922.4	37	c.1408G>T	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	38	7.018567	0.98006	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	.	.	.	4.41	4.41	0.53225	.	0.000000	0.34750	N	0.003708	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1685	0.81786	0.0:0.0:1.0:0.0	.	.	.	.	X	470;470;484;296;296	.	ENSP00000267008:E470X	E	+	1	0	ACVRL1	50600840	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.869000	0.99810	2.184000	0.69523	0.313000	0.20887	GAG		0.562	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			15	21	1	0	8.28177e-16	0.007413	1.16411e-15	15	21				
PTPRR	5801	broad.mit.edu	37	12	71029663	71029663	+	IGR	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:71029663C>A	ENST00000283228.2	-	0	3529				PTPRB_ENST00000334414.6_Missense_Mutation_p.R80L|PTPRB_ENST00000551525.1_Missense_Mutation_p.R79L|PTPRB_ENST00000538174.2_5'UTR|PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000550358.1_Missense_Mutation_p.R80L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GATGGCTGAGCGGGAGGGGCC	0.542																																							uc001swc.3		NA																	0				lung(2)|skin(1)	3						c.(238-240)CGC>CTC		protein tyrosine phosphatase, receptor type, B							60.0	60.0	60.0					12																	71029663		1982	4148	6130	SO:0001628	intergenic_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029663C>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029663C>A						PTPRB_uc001swa.3_Missense_Mutation_p.R80L|PTPRB_uc001swd.3_Missense_Mutation_p.R79L|PTPRB_uc009zrr.1_Intron|PTPRB_uc001swe.2_Missense_Mutation_p.R80L	p.R80L	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	283	-	Renal(347;0.236)		Error:Variant_position_missing_in_P23467_after_alignment					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.239G>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	8.591	0.884586	0.17467	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.26810	1.71;1.71;1.71	6.04	-0.381	0.12485	.	.	.	.	.	T	0.12178	0.0296	N	0.12182	0.205	0.09310	N	0.99999	B;B;B;B	0.25904	0.137;0.018;0.008;0.008	B;B;B;B	0.28849	0.095;0.02;0.005;0.005	T	0.30765	-0.9967	9	0.35671	T	0.21	.	3.4086	0.07350	0.1121:0.5498:0.1014:0.2368	.	80;79;80;80	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	L	80;80;80;79	ENSP00000334928:R80L;ENSP00000448058:R80L;ENSP00000448349:R79L	ENSP00000334928:R80L	R	-	2	0	PTPRB	69315930	0.442000	0.25633	0.000000	0.03702	0.159000	0.22180	0.385000	0.20685	-0.067000	0.12976	0.563000	0.77884	CGC		0.542	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		11	8	1	0	3.07112e-06	0.000978	3.53108e-06	11	8				
CHPT1	56994	broad.mit.edu	37	12	102110587	102110587	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:102110587T>A	ENST00000229266.3	+	4	880	c.645T>A	c.(643-645)taT>taA	p.Y215*	CHPT1_ENST00000549872.1_Nonsense_Mutation_p.Y215*|CHPT1_ENST00000550385.1_3'UTR|Y_RNA_ENST00000363063.1_RNA	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	215					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGTGGGACTATACGGTAAATC	0.308																																							uc001tin.2		NA																	0					0						c.(643-645)TAT>TAA		choline phosphotransferase 1							112.0	101.0	105.0					12																	102110587		2203	4300	6503	SO:0001587	stop_gained	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102110587T>A		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.645T>A	12.37:g.102110587T>A	ENSP00000229266:p.Tyr215*					CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Nonsense_Mutation_p.Y215*	p.Y215*	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN			4	868	+			215					B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Nonsense_Mutation	SNP	ENST00000229266.3	37	c.645T>A	CCDS9086.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.837350	0.71373	.	.	ENSG00000111666	ENST00000229266;ENST00000549872;ENST00000543999	.	.	.	5.47	-0.866	0.10659	.	0.395734	0.29028	N	0.013364	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3799	5.5203	0.16929	0.129:0.3639:0.0:0.5071	.	.	.	.	X	215;215;48	.	ENSP00000229266:Y215X	Y	+	3	2	CHPT1	100634718	0.674000	0.27549	0.997000	0.53966	0.995000	0.86356	-0.222000	0.09190	-0.153000	0.11137	0.443000	0.29094	TAT		0.308	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		3	20	0	0	0	0.009096	0	3	20				
MED13L	23389	broad.mit.edu	37	12	116399155	116399155	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:116399155C>A	ENST00000281928.3	-	31	6755	c.6549G>T	c.(6547-6549)ccG>ccT	p.P2183P	RP11-493P1.2_ENST00000549725.1_RNA	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2183						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCTGGGTGGCCGGATTGCACG	0.517																																							uc001tvw.2		NA																	0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(6547-6549)CCG>CCT		mediator complex subunit 13-like							123.0	112.0	116.0					12																	116399155		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116399155C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6549G>T	12.37:g.116399155C>A							p.P2183P	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	31	6604	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		2183					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.6549G>T	CCDS9177.1																																																																																				0.517	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			18	24	1	0	2.35188e-11	0.006122	3.04828e-11	18	24				
KSR2	283455	broad.mit.edu	37	12	117964883	117964883	+	Missense_Mutation	SNP	G	G	A	rs534046978	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:117964883G>A	ENST00000339824.5	-	13	2571	c.1844C>T	c.(1843-1845)aCg>aTg	p.T615M	KSR2_ENST00000302438.5_Missense_Mutation_p.T312M|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.T586M			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	615					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACCTCCGACGTTGGCTCCAC	0.463													G|||	2	0.000399361	0.0	0.0	5008	,	,		14666	0.002		0.0	False		,,,				2504	0.0						uc001two.2		NA																	0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(1756-1758)ACG>ATG		kinase suppressor of ras 2							165.0	163.0	164.0					12																	117964883		1949	4140	6089	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117964883G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1844C>T	12.37:g.117964883G>A	ENSP00000339952:p.Thr615Met						p.T586M	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			13	1812	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		615					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1757C>T		.	.	.	.	.	.	.	.	.	.	G	19.44	3.827904	0.71143	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.86097	-1.2;-1.2;-2.07	5.6	5.6	0.85130	.	0.222920	0.46145	D	0.000303	D	0.88706	0.6509	L	0.50333	1.59	0.58432	D	0.999996	D	0.76494	0.999	P	0.56163	0.793	D	0.88208	0.2888	10	0.48119	T	0.1	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	615	Q6VAB6	KSR2_HUMAN	M	586;615;312;287	ENSP00000389715:T586M;ENSP00000339952:T615M;ENSP00000305466:T312M	ENSP00000305466:T312M	T	-	2	0	KSR2	116449266	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	8.962000	0.93254	2.630000	0.89119	0.655000	0.94253	ACG		0.463	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		70	86	0	0	0	0.00361	0	70	86				
NCOR2	9612	broad.mit.edu	37	12	124817787	124817787	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:124817787C>A	ENST00000405201.1	-	42	6644	c.6644G>T	c.(6643-6645)gGt>gTt	p.G2215V	NCOR2_ENST00000356219.3_Missense_Mutation_p.G2222V|NCOR2_ENST00000404121.2_Missense_Mutation_p.G1776V|NCOR2_ENST00000397355.1_Missense_Mutation_p.G2206V|NCOR2_ENST00000404621.1_Missense_Mutation_p.G2205V|NCOR2_ENST00000429285.2_Missense_Mutation_p.G2205V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2226					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACCGTCCTCACCACCACCCAA	0.632																																							uc010tay.1		NA																	0				skin(3)|ovary(1)	4						c.(6673-6675)GGT>GTT		nuclear receptor co-repressor 2 isoform 1							48.0	54.0	52.0					12																	124817787		2027	4193	6220	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124817787C>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6644G>T	12.37:g.124817787C>A	ENSP00000384018:p.Gly2215Val					NCOR2_uc010taz.1_Missense_Mutation_p.G2209V|NCOR2_uc010tax.1_Missense_Mutation_p.G336V	p.G2225V	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	44	6830	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2226					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6674G>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.223|4.223	0.040189|0.040189	0.08148|0.08148	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285|ENST00000443451;ENST00000440337	T;T;T;T;T;T|.	0.16897|.	2.31;2.57;2.31;2.57;2.31;2.57|.	4.45|4.45	3.52|3.52	0.40303|0.40303	.|.	0.894418|.	0.09593|.	N|.	0.781241|.	T|T	0.35653|0.35653	0.0939|0.0939	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	P;B;B|.	0.46064|.	0.872;0.338;0.228|.	P;B;B|.	0.46026|.	0.501;0.244;0.123|.	T|T	0.18116|0.18116	-1.0347|-1.0347	10|5	0.46703|.	T|.	0.11|.	-1.5399|-1.5399	11.2757|11.2757	0.49165|0.49165	0.0:0.4938:0.5062:0.0|0.0:0.4938:0.5062:0.0	.|.	2206;2215;2226|.	C9J239;C9JFD3;Q9Y618|.	.;.;NCOR2_HUMAN|.	V|L	2215;2205;2222;2206;2214;1776;307;2205|88;6	ENSP00000384018:G2215V;ENSP00000384202:G2205V;ENSP00000348551:G2222V;ENSP00000380513:G2206V;ENSP00000385618:G1776V;ENSP00000400281:G2205V|.	ENSP00000348551:G2222V|.	G|V	-|-	2|1	0|0	NCOR2|NCOR2	123383740|123383740	0.134000|0.134000	0.22483|0.22483	0.102000|0.102000	0.21198|0.21198	0.029000|0.029000	0.11900|0.11900	3.143000|3.143000	0.50608|0.50608	2.008000|2.008000	0.58898|0.58898	0.555000|0.555000	0.69702|0.69702	GGT|GTG		0.632	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		15	10	1	0	5.01169e-05	0.00499	5.46034e-05	15	10				
FLT3	2322	broad.mit.edu	37	13	28589732	28589732	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr13:28589732G>T	ENST00000241453.7	-	21	2729	c.2648C>A	c.(2647-2649)tCa>tAa	p.S883*	FLT3_ENST00000537084.1_Nonsense_Mutation_p.S842*|FLT3_ENST00000380982.4_Nonsense_Mutation_p.S886*|FLT3_ENST00000469894.1_5'Flank	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	883	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTACCAAGTGAGAAGATTTC	0.542			"""Mis, O"""		"""AML, ALL"""																																		uc001urw.2		NA		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		0				haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2647-2649)TCA>TAA		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						89.0	87.0	88.0					13																	28589732		2203	4300	6503	SO:0001587	stop_gained	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28589732G>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2648C>A	13.37:g.28589732G>T	ENSP00000241453:p.Ser883*					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Nonsense_Mutation_p.S842*	p.S883*	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	21	2730	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	883			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Nonsense_Mutation	SNP	ENST00000241453.7	37	c.2648C>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	40	8.416547	0.98801	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8931	0.96937	0.0:0.0:1.0:0.0	.	.	.	.	X	883;886;842	.	ENSP00000241453:S883X	S	-	2	0	FLT3	27487732	1.000000	0.71417	0.983000	0.44433	0.631000	0.37964	9.463000	0.97652	2.873000	0.98535	0.563000	0.77884	TCA		0.542	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			27	23	1	0	1.17739e-12	0.005443	1.56672e-12	27	23				
FLT3	2322	broad.mit.edu	37	13	28608088	28608088	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr13:28608088G>A	ENST00000241453.7	-	15	1959	c.1878C>T	c.(1876-1878)aaC>aaT	p.N626N	FLT3_ENST00000537084.1_Silent_p.N626N|FLT3_ENST00000380982.4_Silent_p.N626N	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	626	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGCTGTTGCGTTCATCACTT	0.413			"""Mis, O"""		"""AML, ALL"""																																		uc001urw.2		NA		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		0		p.N626_A627ins31(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(1876-1878)AAC>AAT		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						282.0	255.0	264.0					13																	28608088		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608088G>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1878C>T	13.37:g.28608088G>A						FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.N626N	p.N626N	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	15	1960	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	626			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.1878C>T	CCDS31953.1																																																																																				0.413	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			74	80	0	0	0	0.00361	0	74	80				
VWA8	23078	broad.mit.edu	37	13	42263624	42263624	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr13:42263624G>A	ENST00000379310.3	-	34	4065	c.3997C>T	c.(3997-3999)Cat>Tat	p.H1333Y	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1333						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GAAATTTTATGAGGTATGCTG	0.348																																							uc001uyj.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(3997-3999)CAT>TAT		hypothetical protein LOC23078 isoform a							89.0	80.0	83.0					13																	42263624		1822	4087	5909	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42263624G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3997C>T	13.37:g.42263624G>A	ENSP00000368612:p.His1333Tyr						p.H1333Y	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	34	4067	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	1333					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3997C>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429568	0.25726	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000478987	T	0.09817	2.94	5.21	4.36	0.52297	.	0.150388	0.47852	D	0.000201	T	0.11750	0.0286	L	0.51422	1.61	0.80722	D	1	P	0.37781	0.608	B	0.34536	0.185	T	0.05750	-1.0866	10	0.38643	T	0.18	.	14.6786	0.69001	0.0:0.1445:0.8555:0.0	.	1333	A3KMH1	K0564_HUMAN	Y	1237;1333;104	ENSP00000368612:H1333Y	ENSP00000251030:H1237Y	H	-	1	0	KIAA0564	41161624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.925000	0.70062	1.310000	0.45006	0.650000	0.86243	CAT		0.348	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		24	26	0	0	0	0.004656	0	24	26				
CHMP4A	29082	broad.mit.edu	37	14	24680654	24680654	+	Missense_Mutation	SNP	G	G	A	rs371123322		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:24680654G>A	ENST00000609024.1	-	3	374	c.326C>T	c.(325-327)gCt>gTt	p.A109V	MDP1_ENST00000532557.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A109V|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000530611.1_Missense_Mutation_p.A109V|CHMP4A_ENST00000347519.6_Missense_Mutation_p.A152V|CHMP4A_ENST00000530996.1_Missense_Mutation_p.A4V			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	109	Interaction with phosphoinosides.|Intramolecular interaction with C- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		GCTTTGGGCAGCAAGCTCCAT	0.552																																							uc010tob.1		NA																	0				ovary(1)	1						c.(403-405)GCT>GTT		transmembrane 9 superfamily member 1 isoform a		G	VAL/ALA	0,4406		0,0,2203	104.0	88.0	93.0		455	4.6	1.0	14		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHMP4A	NM_014169.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		152/266	24680654	1,13005	2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24680654G>A	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.326C>T	14.37:g.24680654G>A	ENSP00000476412:p.Ala109Val					CHMP4A_uc001wni.2_Missense_Mutation_p.A152V|CHMP4A_uc010toc.1_RNA|CHMP4A_uc001wnj.2_Missense_Mutation_p.A152V	p.A135V	NM_006405	NP_006396	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	3	1038	-			Error:Variant_position_missing_in_O15321_after_alignment					Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	37	c.404C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.168513	0.94768	0.0	1.16E-4	ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505	ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	4.59	4.59	0.56863	.	0.000000	0.47455	D	0.000225	D	0.89539	0.6744	H	0.94658	3.565	0.50632	D	0.999882	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.92340	0.5881	10	0.87932	D	0	-6.1566	14.9164	0.70801	0.0:0.0:1.0:0.0	.	109;152	Q9BY43;Q14D22	CHM4A_HUMAN;.	V	109;109;152;119	ENSP00000451949:A109V;ENSP00000433967:A109V;ENSP00000324205:A152V;ENSP00000432575:A119V	ENSP00000324205:A152V	A	-	2	0	TM9SF1;AL096870.1;RP11-468E2.1	23750494	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.977000	0.93446	2.388000	0.81334	0.561000	0.74099	GCT		0.552	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		5	23	0	0	0	0.001168	0	5	23				
NYNRIN	57523	broad.mit.edu	37	14	24885569	24885569	+	Silent	SNP	G	G	A	rs372376012		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:24885569G>A	ENST00000382554.3	+	9	4932	c.4614G>A	c.(4612-4614)acG>acA	p.T1538T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1538					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TAGTCCCGACGCAACTCCGGA	0.547																																							uc001wpf.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(4612-4614)ACG>ACA		hypothetical protein LOC57523		G		1,3885		0,1,1942	36.0	41.0	39.0		4614	3.5	0.8	14		39	0,8326		0,0,4163	no	coding-synonymous	NYNRIN	NM_025081.2		0,1,6105	AA,AG,GG		0.0,0.0257,0.0082		1538/1899	24885569	1,12211	1943	4163	6106	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885569G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4614G>A	14.37:g.24885569G>A							p.T1538T	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	4932	+			1538					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.4614G>A	CCDS45090.1																																																																																				0.547	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			4	15	0	0	0	0.009096	0	4	15				
AKAP6	9472	broad.mit.edu	37	14	33291952	33291952	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:33291952C>T	ENST00000280979.4	+	13	5103	c.4933C>T	c.(4933-4935)Ccc>Tcc	p.P1645S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1645	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TATCCAGAGCCCCTCAGAGCA	0.433																																					Melanoma(49;821 1200 7288 13647 42351)	Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4933-4935)CCC>TCC		A-kinase anchor protein 6							65.0	66.0	66.0					14																	33291952		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291952C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4933C>T	14.37:g.33291952C>T	ENSP00000280979:p.Pro1645Ser						p.P1645S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5103	+	Breast(36;0.0388)|Prostate(35;0.15)		1645			Ser-rich.		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4933C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767108	0.69878	.	.	ENSG00000151320	ENST00000280979	T	0.26373	1.74	5.98	5.98	0.97165	.	0.050460	0.85682	D	0.000000	T	0.54464	0.1860	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52845	-0.8521	10	0.87932	D	0	-13.9932	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1645	Q13023	AKAP6_HUMAN	S	1645	ENSP00000280979:P1645S	ENSP00000280979:P1645S	P	+	1	0	AKAP6	32361703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.378000	0.79679	2.843000	0.97960	0.650000	0.86243	CCC		0.433	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	45	0	0	0	0.004482	0	8	45				
INSM2	84684	broad.mit.edu	37	14	36005115	36005115	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:36005115C>A	ENST00000307169.3	+	1	1868	c.1657C>A	c.(1657-1659)Cgg>Agg	p.R553R		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CTCAGAAAGCCGGCAAGTGCT	0.562																																							uc001wth.1		NA																	0				lung(1)|skin(1)	2						c.(1657-1659)CGG>AGG		insulinoma-associated protein IA-6							41.0	44.0	43.0					14																	36005115		2189	4258	6447	SO:0001819	synonymous_variant	84684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36005115C>A	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.1657C>A	14.37:g.36005115C>A							p.R553R	NM_032594	NP_115983	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	1868	+	Breast(36;0.122)|Hepatocellular(127;0.158)		553					A1L432|J9Y024|Q8N8K7|Q96Q84	Silent	SNP	ENST00000307169.3	37	c.1657C>A	CCDS9657.1																																																																																				0.562	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			32	40	1	0	2.68265e-12	0.002836	3.53204e-12	32	40				
MLH3	27030	broad.mit.edu	37	14	75497253	75497253	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:75497253A>G	ENST00000556740.1	-	8	4015	c.3980T>C	c.(3979-3981)aTt>aCt	p.I1327T	MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.I1303T|MLH3_ENST00000380968.2_Missense_Mutation_p.I273T|MLH3_ENST00000355774.2_Missense_Mutation_p.I1327T|MLH3_ENST00000556257.1_Missense_Mutation_p.I1149T			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1327					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TACCTCCACAATACTCTTGGT	0.403								Mismatch excision repair (MMR)																															uc001xrd.1		NA																	0				ovary(1)|skin(1)	2						c.(3979-3981)ATT>ACT	MMR	mutL homolog 3 isoform 1							260.0	219.0	233.0					14																	75497253		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75497253A>G	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3980T>C	14.37:g.75497253A>G	ENSP00000452316:p.Ile1327Thr					MLH3_uc001xre.1_Missense_Mutation_p.I1303T|MLH3_uc010tuy.1_RNA	p.I1327T	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	9	4196	-			1327					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.3980T>C	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.204489	0.58234	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740	D;D;T;D;D	0.82711	-1.64;-1.52;-1.47;-1.57;-1.64	5.78	5.78	0.91487	MutL, C-terminal, dimerisation (2);	0.099552	0.64402	D	0.000002	D	0.83496	0.5267	L	0.45228	1.405	0.80722	D	1	P;B	0.46987	0.888;0.031	P;B	0.49561	0.615;0.157	D	0.84774	0.0769	10	0.56958	D	0.05	-19.2756	16.1115	0.81266	1.0:0.0:0.0:0.0	.	1303;1327	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	T	1327;273;1303;1149;1327	ENSP00000348020:I1327T;ENSP00000370355:I273T;ENSP00000238662:I1303T;ENSP00000451540:I1149T;ENSP00000452316:I1327T	ENSP00000238662:I1303T	I	-	2	0	MLH3	74567006	1.000000	0.71417	0.976000	0.42696	0.455000	0.32408	7.894000	0.87336	2.207000	0.71202	0.460000	0.39030	ATT		0.403	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		5	143	0	0	0	0.000602	0	5	143				
KCNK13	56659	broad.mit.edu	37	14	90651091	90651091	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:90651091A>T	ENST00000282146.4	+	2	1412	c.971A>T	c.(970-972)aAc>aTc	p.N324I		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	324					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				AACCGCTGCAACATCTCCATA	0.607																																							uc001xye.1		NA																	0				skin(1)	1						c.(970-972)AAC>ATC		potassium channel, subfamily K, member 13							65.0	68.0	67.0					14																	90651091		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90651091A>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.971A>T	14.37:g.90651091A>T	ENSP00000282146:p.Asn324Ile						p.N324I	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	1413	+		all_cancers(154;0.186)	324			Cytoplasmic (Potential).		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.971A>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	A	6.043	0.376323	0.11466	.	.	ENSG00000152315	ENST00000282146	T	0.12147	2.71	5.42	1.64	0.23874	.	1.397930	0.04870	N	0.445661	T	0.18173	0.0436	M	0.63428	1.95	0.39346	D	0.965668	B	0.27229	0.172	B	0.28916	0.096	T	0.03795	-1.1003	10	0.37606	T	0.19	.	8.032	0.30470	0.6789:0.2539:0.0671:0.0	.	324	Q9HB14	KCNKD_HUMAN	I	324	ENSP00000282146:N324I	ENSP00000282146:N324I	N	+	2	0	KCNK13	89720844	0.996000	0.38824	0.001000	0.08648	0.009000	0.06853	4.449000	0.60034	0.030000	0.15379	-1.236000	0.01555	AAC		0.607	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		52	48	0	0	0	0.00361	0	52	48				
BCL11B	64919	broad.mit.edu	37	14	99641437	99641437	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:99641437G>T	ENST00000357195.3	-	4	1745	c.1736C>A	c.(1735-1737)gCg>gAg	p.A579E	BCL11B_ENST00000345514.2_Missense_Mutation_p.A508E|BCL11B_ENST00000443726.2_Missense_Mutation_p.A385E	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	579	Gly-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		gccgccccccgcgcccgggac	0.721			T	TLX3	T-ALL																																		uc001yga.2		NA		Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(1735-1737)GCG>GAG		B-cell CLL/lymphoma 11B isoform 1							7.0	10.0	9.0					14																	99641437		2014	3942	5956	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641437G>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1736C>A	14.37:g.99641437G>T	ENSP00000349723:p.Ala579Glu					BCL11B_uc001ygb.2_Missense_Mutation_p.A508E	p.A579E	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	4	2003	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	579			Gly-rich.		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1736C>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	0.969	-0.700936	0.03255	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.10382	2.88;2.89;2.88	2.44	0.549	0.17213	.	1.064270	0.07767	U	0.951036	T	0.06462	0.0166	N	0.08118	0	0.09310	N	1	D;B	0.54772	0.968;0.01	P;B	0.51385	0.668;0.0	T	0.09271	-1.0682	10	0.02654	T	1	-0.3403	4.3614	0.11205	0.3405:0.0:0.6595:0.0	.	508;579	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	E	579;508;385	ENSP00000349723:A579E;ENSP00000280435:A508E;ENSP00000387419:A385E	ENSP00000280435:A508E	A	-	2	0	BCL11B	98711190	0.317000	0.24589	0.115000	0.21578	0.315000	0.28087	-0.229000	0.09098	0.133000	0.18654	0.561000	0.74099	GCG		0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		5	8	1	0	0.00198382	0.001984	0.00207531	5	8				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																							uc010axw.2		NA																	0					0						c.(250-252)AAC>CAC		golgi autoantigen, golgin subfamily a, 8E																																						100132979							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G						GOLGA8DP_uc010axx.2_Missense_Mutation_p.N84H|uc010tzw.1_5'Flank	p.N84H	NM_001012423	NP_001012423					10	1148	-									Missense_Mutation	SNP	ENST00000314246.8	37	c.250A>C		.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		4	58	0	0	0	0.009096	0	4	58				
NPAP1	23742	broad.mit.edu	37	15	24921416	24921416	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:24921416G>T	ENST00000329468.2	+	1	876	c.402G>T	c.(400-402)gcG>gcT	p.A134A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	134					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GTGAGCCGGCGGTCAAGGCCA	0.632																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(400-402)GCG>GCT		hypothetical protein LOC23742							44.0	38.0	40.0					15																	24921416		2202	4299	6501	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921416G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.402G>T	15.37:g.24921416G>T							p.A134A	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	876	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	134						Silent	SNP	ENST00000329468.2	37	c.402G>T	CCDS10015.1																																																																																				0.632	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		12	29	1	0	0.00185496	0.001855	0.00195692	12	29				
GABRB3	2562	broad.mit.edu	37	15	26793113	26793113	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:26793113C>A	ENST00000311550.5	-	9	1360	c.1249G>T	c.(1249-1251)Ggg>Tgg	p.G417W	GABRB3_ENST00000541819.2_Missense_Mutation_p.G473W|GABRB3_ENST00000400188.3_Missense_Mutation_p.G346W|GABRB3_ENST00000545868.1_Missense_Mutation_p.G332W|GABRB3_ENST00000299267.4_Missense_Mutation_p.G417W	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	417					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTTCTGTCCCCCAGGAATCGC	0.498																																							uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(1249-1251)GGG>TGG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						84.0	74.0	77.0					15																	26793113		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26793113C>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1249G>T	15.37:g.26793113C>A	ENSP00000308725:p.Gly417Trp					GABRB3_uc010uae.1_Missense_Mutation_p.G332W|GABRB3_uc001zba.2_Missense_Mutation_p.G417W|GABRB3_uc001zbb.2_Missense_Mutation_p.G473W	p.G417W	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1391	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	417			Cytoplasmic (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1249G>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717226	0.48622	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.72	5.72	0.89469	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.510324	0.22995	N	0.053160	D	0.86640	0.5981	L	0.38175	1.15	0.43014	D	0.994559	D;B;P	0.57899	0.981;0.014;0.886	P;B;P	0.57324	0.818;0.021;0.656	D	0.87441	0.2395	10	0.66056	D	0.02	.	14.3761	0.66879	0.1571:0.8429:0.0:0.0	.	473;417;417	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	W	417;473;417;346;332	ENSP00000308725:G417W;ENSP00000442408:G473W;ENSP00000299267:G417W;ENSP00000383049:G346W;ENSP00000439169:G332W	ENSP00000299267:G417W	G	-	1	0	GABRB3	24344206	0.805000	0.28982	1.000000	0.80357	0.790000	0.44656	0.722000	0.25925	2.705000	0.92388	0.591000	0.81541	GGG		0.498	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			25	39	1	0	9.57634e-11	0.00333	1.21593e-10	25	39				
NDNL2	56160	broad.mit.edu	37	15	29561629	29561629	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:29561629T>A	ENST00000332303.4	-	1	404	c.281A>T	c.(280-282)cAg>cTg	p.Q94L	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	94	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CAGCAAGAACTGCACCAGCTC	0.637																																							uc001zco.2		NA																	0					0						c.(280-282)CAG>CTG		necdin-like 2							83.0	79.0	81.0					15																	29561629		2203	4300	6503	SO:0001583	missense	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561629T>A	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.281A>T	15.37:g.29561629T>A	ENSP00000330694:p.Gln94Leu					FAM189A1_uc010azk.1_Intron	p.Q94L	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	389	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	94			MAGE.		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	c.281A>T	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216718	0.79352	.	.	ENSG00000185115	ENST00000332303	T	0.05319	3.46	3.65	3.65	0.41850	.	0.000000	0.85682	U	0.000000	T	0.15478	0.0373	M	0.82716	2.605	0.51482	D	0.999921	P	0.44986	0.847	P	0.49047	0.599	T	0.00507	-1.1699	10	0.56958	D	0.05	.	8.955	0.35812	0.0:0.0:0.0:1.0	.	94	Q96MG7	MAGG1_HUMAN	L	94	ENSP00000330694:Q94L	ENSP00000330694:Q94L	Q	-	2	0	NDNL2	27348921	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.779000	0.62375	1.873000	0.54277	0.460000	0.39030	CAG		0.637	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		41	36	0	0	0	0.002522	0	41	36				
RYR3	6263	broad.mit.edu	37	15	33954852	33954852	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:33954852G>T	ENST00000389232.4	+	35	5191	c.5121G>T	c.(5119-5121)ggG>ggT	p.G1707G	RYR3_ENST00000415757.3_Silent_p.G1707G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1707	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGTGCAGCGGGGCCCACATCC	0.567																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5119-5121)GGG>GGT		ryanodine receptor 3							75.0	81.0	79.0					15																	33954852		2075	4229	6304	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954852G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5121G>T	15.37:g.33954852G>T						RYR3_uc010bar.2_Silent_p.G1707G	p.G1707G	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5191	+		all_lung(180;7.18e-09)	1707			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.5121G>T	CCDS45210.1																																																																																				0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			20	29	1	0	0.00188189	0.001882	0.00198115	20	29				
ADAL	161823	broad.mit.edu	37	15	43641179	43641179	+	Silent	SNP	C	C	T	rs112836130		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:43641179C>T	ENST00000562188.1	+	8	724	c.708C>T	c.(706-708)ctC>ctT	p.L236L	ADAL_ENST00000428046.3_Silent_p.L209L|ADAL_ENST00000389651.4_Silent_p.L236L|ADAL_ENST00000422466.2_Silent_p.L236L			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	236					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GAACATTTCTCAACTCCGGTG	0.478																																							uc010udo.1		NA																	0					0						c.(625-627)CTC>CTT		adenosine deaminase-like isoform 1							132.0	125.0	127.0					15																	43641179		2201	4299	6500	SO:0001819	synonymous_variant	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43641179C>T		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.708C>T	15.37:g.43641179C>T						ADAL_uc001zrh.2_Silent_p.L236L|ADAL_uc001zri.1_Silent_p.L121L	p.L209L	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	10	1201	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	236					A6NHZ3|B4DQM8	Silent	SNP	ENST00000562188.1	37	c.627C>T																																																																																					0.478	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		22	35	0	0	0	0.010504	0	22	35				
RORA	6095	broad.mit.edu	37	15	60806923	60806923	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:60806923T>A	ENST00000335670.6	-	4	416	c.316A>T	c.(316-318)Acc>Tcc	p.T106S	RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.T51S|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.T131S|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.T139S|RORA_ENST00000560004.1_5'UTR	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	106					angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|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)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						CAGGAGTAGGTGGCATTGCTT	0.438																																							uc002agv.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(415-417)ACC>TCC		RAR-related orphan receptor A isoform b							171.0	155.0	160.0					15																	60806923		2203	4300	6503	SO:0001583	missense	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60806923T>A	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.316A>T	15.37:g.60806923T>A	ENSP00000335087:p.Thr106Ser					uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.T51S|RORA_uc002agw.2_Missense_Mutation_p.T131S|RORA_uc002agx.2_Missense_Mutation_p.T106S	p.T139S	NM_134260	NP_599022	P35398	RORA_HUMAN			5	571	-			139			Nuclear receptor.		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.415A>T	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	T	7.862	0.726295	0.15439	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	6.17	5.04	0.67666	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.086238	0.85682	D	0.000000	D	0.92143	0.7509	N	0.17631	0.505	0.41917	D	0.990499	B;B;B;B	0.16603	0.0;0.018;0.015;0.0	B;B;B;B	0.20184	0.002;0.02;0.028;0.001	D	0.87336	0.2328	10	0.08381	T	0.77	.	12.9648	0.58478	0.1213:0.0:0.0:0.8787	.	106;131;139;51	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	S	106;51;131;139	ENSP00000335087:T106S;ENSP00000402971:T51S;ENSP00000309753:T131S;ENSP00000261523:T139S	ENSP00000261523:T139S	T	-	1	0	RORA	58594215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.710000	0.61873	1.130000	0.42092	0.533000	0.62120	ACC		0.438	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			29	32	0	0	0	0.00632	0	29	32				
NTRK3	4916	broad.mit.edu	37	15	88678565	88678565	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:88678565A>G	ENST00000360948.2	-	9	1132	c.971T>C	c.(970-972)gTg>gCg	p.V324A	NTRK3_ENST00000557856.1_Missense_Mutation_p.V324A|NTRK3_ENST00000394480.2_Missense_Mutation_p.V324A|NTRK3_ENST00000317501.3_Missense_Mutation_p.V324A|NTRK3_ENST00000357724.2_Missense_Mutation_p.V324A|NTRK3_ENST00000542733.2_Missense_Mutation_p.V226A|NTRK3_ENST00000558676.1_Missense_Mutation_p.V324A|NTRK3_ENST00000540489.2_Missense_Mutation_p.V324A|NTRK3_ENST00000355254.2_Missense_Mutation_p.V324A	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	324	Ig-like C2-type 2.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCACGCACCACAAACTCGAT	0.597			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(970-972)GTG>GCG		neurotrophic tyrosine kinase, receptor, type 3							61.0	62.0	62.0					15																	88678565		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88678565A>G	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.971T>C	15.37:g.88678565A>G	ENSP00000354207:p.Val324Ala	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.V324A|NTRK3_uc002bmf.1_Missense_Mutation_p.V324A|NTRK3_uc010upl.1_Missense_Mutation_p.V226A|NTRK3_uc010bnh.1_Missense_Mutation_p.V324A|NTRK3_uc002bmg.2_Missense_Mutation_p.V324A	p.V324A	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		9	1133	-			324			Ig-like C2-type 2.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.971T>C	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	A	8.114	0.779429	0.16120	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.28	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.229968	0.45126	D	0.000393	T	0.38268	0.1034	N	0.10664	0.02	0.33202	D	0.552344	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.06405	0.002;0.001;0.002;0.002;0.001;0.002	T	0.45877	-0.9231	10	0.23891	T	0.37	.	8.8993	0.35484	0.9079:0.0:0.0921:0.0	.	226;324;324;324;324;324	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	A	324;324;324;324;226;324;324	ENSP00000377990:V324A;ENSP00000354207:V324A;ENSP00000350356:V324A;ENSP00000347397:V324A;ENSP00000437773:V226A;ENSP00000444673:V324A;ENSP00000318328:V324A	ENSP00000318328:V324A	V	-	2	0	NTRK3	86479569	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	3.760000	0.55235	1.988000	0.58038	0.460000	0.39030	GTG		0.597	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				22	22	0	0	0	0.001882	0	22	22				
FANCI	55215	broad.mit.edu	37	15	89805064	89805064	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:89805064G>T	ENST00000310775.7	+	6	544	c.458G>T	c.(457-459)gGg>gTg	p.G153V	FANCI_ENST00000300027.8_Missense_Mutation_p.G153V|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000567996.1_Missense_Mutation_p.G153V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	153					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GTACTGAGTGGGGAAGAATGT	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc010bnp.1		NA																	0				ovary(2)	2						c.(457-459)GGG>GTG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							135.0	135.0	135.0					15																	89805064		2200	4299	6499	SO:0001583	missense	55215	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89805064G>T	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.458G>T	15.37:g.89805064G>T	ENSP00000310842:p.Gly153Val					FANCI_uc002bnm.1_Missense_Mutation_p.G153V|FANCI_uc002bnn.1_RNA|FANCI_uc002bno.2_Missense_Mutation_p.G153V|FANCI_uc002bnp.1_5'Flank	p.G153V	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			6	548	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		153					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.458G>T	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041481	0.75732	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.80480	-1.38;-1.38;-1.38	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.89663	0.6780	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89847	0.4007	10	0.56958	D	0.05	-15.7269	18.8307	0.92137	0.0:0.0:1.0:0.0	.	153;153	Q9NVI1;Q9NVI1-1	FANCI_HUMAN;.	V	153	ENSP00000300027:G153V;ENSP00000310842:G153V;ENSP00000413249:G153V	ENSP00000300027:G153V	G	+	2	0	FANCI	87606068	1.000000	0.71417	0.998000	0.56505	0.642000	0.38348	9.263000	0.95617	2.689000	0.91719	0.655000	0.94253	GGG		0.353	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		32	38	1	0	3.69857e-22	0.008361	5.73163e-22	32	38				
MAN2A2	4122	broad.mit.edu	37	15	91447494	91447494	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:91447494C>T	ENST00000559717.1	+	2	516	c.57C>T	c.(55-57)gtC>gtT	p.V19V	MAN2A2_ENST00000360468.3_Silent_p.V19V			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	19					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)			GTGTGGCAGTCTTCTCGCTCT	0.562																																							uc010bnz.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(55-57)GTC>GTT		mannosidase, alpha, class 2A, member 2							191.0	175.0	180.0					15																	91447494		2198	4298	6496	SO:0001819	synonymous_variant	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.chr15:91447494C>T	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.57C>T	15.37:g.91447494C>T						MAN2A2_uc010boa.2_Silent_p.V61V|MAN2A2_uc002bqc.2_Silent_p.V19V|MAN2A2_uc010uql.1_5'Flank	p.V19V	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		2	172	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		19			Helical; Signal-anchor for type II membrane protein; (Potential).		A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	37	c.57C>T	CCDS32332.1																																																																																				0.562	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		45	39	0	0	0	0.00361	0	45	39				
TTC23	64927	broad.mit.edu	37	15	99678309	99678309	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:99678309G>A	ENST00000394132.2	-	14	2067	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	TTC23_ENST00000558663.1_Missense_Mutation_p.P417L|RP11-6O2.3_ENST00000564527.1_RNA|TTC23_ENST00000262074.4_Missense_Mutation_p.P417L|TTC23_ENST00000394136.1_Missense_Mutation_p.P417L|TTC23_ENST00000558613.1_Missense_Mutation_p.P417L|TTC23_ENST00000394135.3_Missense_Mutation_p.P417L			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	417										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGCCTGCCTTGGCTTCGAAGC	0.652																																							uc002bur.2		NA																	0					0						c.(1249-1251)CCA>CTA		tetratricopeptide repeat domain 23							44.0	49.0	48.0					15																	99678309		1979	4150	6129	SO:0001583	missense	64927						binding	g.chr15:99678309G>A		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.1250C>T	15.37:g.99678309G>A	ENSP00000377690:p.Pro417Leu					TTC23_uc002bus.2_Missense_Mutation_p.P417L|TTC23_uc002but.2_Missense_Mutation_p.P417L|TTC23_uc002buu.2_Missense_Mutation_p.P417L|TTC23_uc002buv.2_Missense_Mutation_p.P417L|TTC23_uc002bux.2_Missense_Mutation_p.P417L|TTC23_uc002buw.2_Missense_Mutation_p.P417L|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.P417L|TTC23_uc010bor.2_Missense_Mutation_p.P417L	p.P417L	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		13	1781	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		417					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.1250C>T	CCDS10379.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.65|11.65	1.701277|1.701277	0.30142|0.30142	.|.	.|.	ENSG00000103852|ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135|ENST00000434594	T;T;T;T|.	0.14766|.	2.48;2.48;2.48;2.48|.	4.94|4.94	2.73|2.73	0.32206|0.32206	.|.	0.380803|.	0.21514|.	U|.	0.073334|.	T|.	0.23451|.	0.0567|.	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.19331|.	0.035|.	B|.	0.17433|.	0.018|.	T|.	0.17531|.	-1.0366|.	10|.	0.27785|.	T|.	0.31|.	-6.0617|-6.0617	4.9384|4.9384	0.13952|0.13952	0.1081:0.0:0.6312:0.2607|0.1081:0.0:0.6312:0.2607	.|.	417|.	Q5W5X9|.	TTC23_HUMAN|.	L|X	417|228	ENSP00000377690:P417L;ENSP00000377693:P417L;ENSP00000262074:P417L;ENSP00000377692:P417L|.	ENSP00000262074:P417L|.	P|Q	-|-	2|1	0|0	TTC23|TTC23	97495832|97495832	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.076000|0.076000	0.17211|0.17211	-0.269000|-0.269000	0.08596|0.08596	1.195000|1.195000	0.43115|0.43115	0.563000|0.563000	0.77884|0.77884	CCA|CAA		0.652	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		17	19	0	0	0	0.006122	0	17	19				
SEC14L5	9717	broad.mit.edu	37	16	5053500	5053500	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:5053500G>T	ENST00000251170.7	+	11	1408	c.1228G>T	c.(1228-1230)Gac>Tac	p.D410Y		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	410	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGTGGTTGAGGACAATTACCC	0.647																																							uc002cye.2		NA																	0					0						c.(1228-1230)GAC>TAC		SEC14-like 5							45.0	51.0	49.0					16																	5053500		1939	4162	6101	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5053500G>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1228G>T	16.37:g.5053500G>T	ENSP00000251170:p.Asp410Tyr						p.D410Y	NM_014692	NP_055507	O43304	S14L5_HUMAN			11	1408	+			410			CRAL-TRIO.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1228G>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330904	0.81690	.	.	ENSG00000103184	ENST00000251170	T	0.77358	-1.09	4.5	4.5	0.54988	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.342957	0.26684	N	0.023039	D	0.83533	0.5275	M	0.65498	2.005	0.53005	D	0.999966	P	0.48911	0.917	P	0.53266	0.722	D	0.85993	0.1490	10	0.66056	D	0.02	-15.4065	17.3879	0.87422	0.0:0.0:1.0:0.0	.	410	O43304	S14L5_HUMAN	Y	410	ENSP00000251170:D410Y	ENSP00000251170:D410Y	D	+	1	0	SEC14L5	4993501	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.136000	0.77285	2.341000	0.79615	0.555000	0.69702	GAC		0.647	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			16	37	1	0	1.02788e-11	0.00499	1.3392e-11	16	37				
MKL2	57496	broad.mit.edu	37	16	14311020	14311020	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:14311020G>C	ENST00000341243.5	+	5	357	c.357G>C	c.(355-357)atG>atC	p.M119I	MKL2_ENST00000572567.1_Missense_Mutation_p.M119I|MKL2_ENST00000574045.1_Missense_Mutation_p.M130I|MKL2_ENST00000318282.5_Missense_Mutation_p.M130I|MKL2_ENST00000571589.1_Missense_Mutation_p.M130I|MKL2_ENST00000573051.1_Missense_Mutation_p.M79I			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	119					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTACTCAGATGAAGTTGAAAA	0.393																																							uc010uza.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(388-390)ATG>ATC		megakaryoblastic leukemia 2 protein							97.0	103.0	101.0					16																	14311020		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14311020G>C	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.357G>C	16.37:g.14311020G>C	ENSP00000345841:p.Met119Ile					MKL2_uc002dcg.2_Missense_Mutation_p.M130I|MKL2_uc002dch.2_Missense_Mutation_p.M119I|MKL2_uc010uzb.1_Missense_Mutation_p.M79I	p.M130I	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			7	545	+			119					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.390G>C		.	.	.	.	.	.	.	.	.	.	G	19.22	3.785793	0.70337	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99836	-7.05;-7.05	5.75	5.75	0.90469	.	0.037553	0.85682	D	0.000000	D	0.99588	0.9851	L	0.35414	1.06	0.58432	D	0.999996	P;P;P;D	0.55172	0.458;0.702;0.861;0.97	B;B;B;D	0.68943	0.137;0.182;0.391;0.961	D	0.98370	1.0553	10	0.37606	T	0.19	-25.9574	19.2924	0.94105	0.0:0.0:1.0:0.0	.	79;130;119;130	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	I	130;119;119	ENSP00000339086:M130I;ENSP00000345841:M119I	ENSP00000339086:M130I	M	+	3	0	MKL2	14218521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.878000	0.98634	0.650000	0.86243	ATG		0.393	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		8	87	0	0	0	0.00308	0	8	87				
GPR139	124274	broad.mit.edu	37	16	20043068	20043068	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:20043068C>T	ENST00000570682.1	-	2	1351	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	351					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CACGGGGATACTTTTATAGGT	0.463																																							uc002dgu.1		NA																	0				ovary(2)	2						c.(1051-1053)GTA>ATA		G protein-coupled receptor 139							110.0	110.0	110.0					16																	20043068		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043068C>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.1051G>A	16.37:g.20043068C>T	ENSP00000458791:p.Val351Ile					GPR139_uc010vaw.1_Missense_Mutation_p.V258I	p.V351I	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	1213	-			351			Cytoplasmic (Potential).		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.1051G>A	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	C	9.611	1.131369	0.21041	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.63	4.68	0.58851	.	0.117665	0.53938	D	0.000041	T	0.13500	0.0327	N	0.02539	-0.55	0.33900	D	0.638368	B	0.02656	0.0	B	0.01281	0.0	T	0.31724	-0.9933	9	0.02654	T	1	-14.889	6.0562	0.19812	0.0:0.7652:0.0:0.2348	.	351	Q6DWJ6	GP139_HUMAN	I	351	.	ENSP00000370779:V351I	V	-	1	0	GPR139	19950569	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.491000	0.66887	2.652000	0.90054	0.655000	0.94253	GTA		0.463	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		21	88	0	0	0	0.008871	0	21	88				
UMOD	7369	broad.mit.edu	37	16	20355495	20355495	+	Splice_Site	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:20355495C>T	ENST00000570689.1	-	6	1329		c.e6-1		UMOD_ENST00000396138.4_Splice_Site|UMOD_ENST00000424589.1_Splice_Site|UMOD_ENST00000396134.2_Splice_Site|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396142.2_Splice_Site|UMOD_ENST00000302509.4_Splice_Site			P07911	UROM_HUMAN	uromodulin						cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTTCATTCCTCTGTTGCAGGG	0.507																																							uc002dgz.2		NA																	0				ovary(1)|skin(1)	2						c.e6-1		uromodulin precursor							110.0	96.0	101.0					16																	20355495		2203	4300	6503	SO:0001630	splice_region_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20355495C>T	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1183-1G>A	16.37:g.20355495C>T						UMOD_uc002dha.2_Splice_Site_p.R395_splice|UMOD_uc002dhb.2_Splice_Site_p.R428_splice	p.R395_splice	NM_003361	NP_003352	P07911	UROM_HUMAN			6	1312	-								B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Splice_Site	SNP	ENST00000570689.1	37	c.1183_splice	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385594	0.42308	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0094	0.86401	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UMOD	20262996	1.000000	0.71417	0.996000	0.52242	0.380000	0.30137	2.710000	0.47169	2.610000	0.88304	0.655000	0.94253	.		0.507	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		Intron	8	39	0	0	0	0.004482	0	8	39				
DNAH3	55567	broad.mit.edu	37	16	21086872	21086873	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:21086872_21086873TG>AT	ENST00000261383.3	-	21	2978_2979	c.2979_2980CA>AT	c.(2977-2982)ccCAtt>ccATtt	p.I994F	DNAH3_ENST00000415178.1_Missense_Mutation_p.I994F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	994	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTGCACCAATGGGCTCCAATC	0.48																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(2977-2982)CCCATT>CCATTT		dynein, axonemal, heavy chain 3																																				SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21086872_21086873TG>AT	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2979_2980delinsAT	16.37:g.21086872_21086873delinsAT	ENSP00000261383:p.Ile994Phe						p.I994F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	21	2979_2980	-			994			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	DNP	ENST00000261383.3	37	c.2979_2980CA>AT	CCDS10594.1																																																																																				0.480	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		3	59	0	0	0	0.004672	0	3	59				
TNRC6A	27327	broad.mit.edu	37	16	24826516	24826516	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:24826516A>T	ENST00000395799.3	+	19	4850	c.4721A>T	c.(4720-4722)tAt>tTt	p.Y1574F	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.Y1525F|TNRC6A_ENST00000432286.2_Missense_Mutation_p.Y52F	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1574					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTTGTTCCCTATGACTTTATG	0.438																																							uc002dmm.2		NA																	0				ovary(2)	2						c.(4720-4722)TAT>TTT		trinucleotide repeat containing 6A							123.0	116.0	118.0					16																	24826516		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24826516A>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4721A>T	16.37:g.24826516A>T	ENSP00000379144:p.Tyr1574Phe					TNRC6A_uc010bxs.2_Missense_Mutation_p.Y1321F|TNRC6A_uc002dmn.2_Missense_Mutation_p.Y1272F|TNRC6A_uc002dmo.2_Missense_Mutation_p.Y1213F|TNRC6A_uc002dmp.2_Missense_Mutation_p.Y175F|TNRC6A_uc002dmq.2_Missense_Mutation_p.Y241F	p.Y1574F	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	19	4835	+			1574					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.4721A>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520346	0.64747	.	.	ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286	T;T	0.14640	2.54;2.49	5.92	4.83	0.62350	.	0.060050	0.64402	D	0.000002	T	0.29288	0.0729	L	0.57536	1.79	0.53005	D	0.999969	P;P;D;D	0.69078	0.534;0.739;0.988;0.997	B;P;P;D	0.75020	0.269;0.667;0.795;0.985	T	0.03587	-1.1022	10	0.18710	T	0.47	-1.3817	12.013	0.53299	0.9326:0.0:0.0674:0.0	.	241;713;1525;1574	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.;.;.;TNR6A_HUMAN	F	1525;1574;52	ENSP00000326900:Y1525F;ENSP00000379144:Y1574F	ENSP00000326900:Y1525F	Y	+	2	0	TNRC6A	24734017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.235000	0.72332	1.065000	0.40693	0.533000	0.62120	TAT		0.438	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		24	55	0	0	0	0.003954	0	24	55				
MVP	9961	broad.mit.edu	37	16	29845347	29845347	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:29845347C>T	ENST00000357402.5	+	5	675	c.537C>T	c.(535-537)cgC>cgT	p.R179R	MVP_ENST00000395353.1_Silent_p.R179R|MVP_ENST00000452209.2_Intron	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	179					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TCAGGGCCCGCAAGGAGTGCT	0.657																																							uc002dui.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(535-537)CGC>CGT		major vault protein							51.0	44.0	46.0					16																	29845347		2197	4300	6497	SO:0001819	synonymous_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29845347C>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.537C>T	16.37:g.29845347C>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_Intron|MVP_uc002duj.2_Silent_p.R179R|MVP_uc010vea.1_5'UTR	p.R179R	NM_005115	NP_005106	Q14764	MVP_HUMAN			5	621	+			179			MVP 4.		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	ENST00000357402.5	37	c.537C>T	CCDS10656.1																																																																																				0.657	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		12	53	0	0	0	0.000978	0	12	53				
RNF40	9810	broad.mit.edu	37	16	30780669	30780669	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:30780669C>T	ENST00000324685.6	+	16	2845	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W	RNF40_ENST00000563683.1_Missense_Mutation_p.R764W|RNF40_ENST00000402121.3_Missense_Mutation_p.R496W|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000357890.5_Missense_Mutation_p.R704W	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	804					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CAAGCTGCTGCGGGAGGAGAA	0.582																																							uc002dzq.2		NA																	0				central_nervous_system(1)	1						c.(2410-2412)CGG>TGG		ring finger protein 40							108.0	115.0	113.0					16																	30780669		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30780669C>T	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2410C>T	16.37:g.30780669C>T	ENSP00000325677:p.Arg804Trp					RNF40_uc010caa.2_Missense_Mutation_p.R804W|RNF40_uc010cab.2_Missense_Mutation_p.R704W|RNF40_uc010vfa.1_Missense_Mutation_p.R136W|RNF40_uc002dzr.2_Missense_Mutation_p.R804W|RNF40_uc010vfb.1_Missense_Mutation_p.R496W|RNF40_uc010vfc.1_Missense_Mutation_p.R136W	p.R804W	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		16	2533	+			804			Potential.		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.2410C>T	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518860	0.64634	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	T;T;T	0.34667	1.35;1.36;1.38	5.77	4.8	0.61643	.	0.061993	0.64402	D	0.000004	T	0.52757	0.1754	L	0.54323	1.7	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.77557	0.975;0.986;0.99;0.958;0.969	T	0.55302	-0.8162	10	0.87932	D	0	-27.3345	10.9541	0.47347	0.1459:0.7134:0.1407:0.0	.	136;496;704;804;804	F6SYU7;F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;.;BRE1B_HUMAN	W	804;704;496;136	ENSP00000325677:R804W;ENSP00000350563:R704W;ENSP00000384942:R496W	ENSP00000325677:R804W	R	+	1	2	RNF40	30688170	1.000000	0.71417	0.984000	0.44739	0.984000	0.73092	1.420000	0.34804	1.529000	0.49120	0.655000	0.94253	CGG		0.582	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		44	74	0	0	0	0.00361	0	44	74				
ZNF646	9726	broad.mit.edu	37	16	31089217	31089217	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:31089217C>T	ENST00000394979.2	+	1	1995	c.1572C>T	c.(1570-1572)atC>atT	p.I524I	ZNF646_ENST00000300850.5_Silent_p.I524I			O15015	ZN646_HUMAN	zinc finger protein 646	524					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GTGCAGACATCGGGGCTGAGG	0.622																																							uc002eap.2		NA																	0				breast(2)	2						c.(1570-1572)ATC>ATT		zinc finger protein 646							43.0	39.0	40.0					16																	31089217		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089217C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1572C>T	16.37:g.31089217C>T							p.I524I	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	1861	+			524					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.1572C>T																																																																																					0.622	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		20	31	0	0	0	0.010504	0	20	31				
SALL1	6299	broad.mit.edu	37	16	51174189	51174189	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:51174189G>A	ENST00000251020.4	-	2	1977	c.1944C>T	c.(1942-1944)gaC>gaT	p.D648D	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.D551D|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	648					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGGGGCCGCAGTCTGCCGCTG	0.622																																					GBM(103;1352 1446 1855 4775 8890)	GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(1942-1944)GAC>GAT		sal-like 1 isoform a							39.0	41.0	40.0					16																	51174189		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174189G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1944C>T	16.37:g.51174189G>A						SALL1_uc010vgr.1_Silent_p.D551D|SALL1_uc010cbv.2_Intron	p.D648D	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1975	-		all_cancers(37;0.0322)	648					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1944C>T	CCDS10747.1																																																																																				0.622	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		25	72	0	0	0	0.00333	0	25	72				
IRX6	79190	broad.mit.edu	37	16	55360368	55360368	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:55360368C>T	ENST00000290552.7	+	2	1498	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	56					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CGATAGTCGACTGCTGGGCAG	0.657																																							uc002ehy.2		NA																	0				central_nervous_system(5)|ovary(1)	6						c.(166-168)CTG>TTG		iroquois homeobox protein 6							32.0	29.0	30.0					16																	55360368		2198	4300	6498	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55360368C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.166C>T	16.37:g.55360368C>T						IRX6_uc002ehx.2_Silent_p.L56L|IRX6_uc010ccb.1_RNA	p.L56L	NM_024335	NP_077311	P78412	IRX6_HUMAN			2	699	+			56					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.166C>T	CCDS32449.1																																																																																				0.657	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		18	26	0	0	0	0.006122	0	18	26				
PRMT7	54496	broad.mit.edu	37	16	68373273	68373273	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:68373273G>T	ENST00000339507.5	+	8	1383	c.553G>T	c.(553-555)Gtg>Ttg	p.V185L	PRMT7_ENST00000441236.1_Missense_Mutation_p.V135L|PRMT7_ENST00000449359.3_Missense_Mutation_p.V135L|PRMT7_ENST00000348497.4_Missense_Mutation_p.V111L|PRMT7_ENST00000564441.1_3'UTR			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	185	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGCACAGCTGGTGGAGTCCGG	0.517																																							uc002evy.1		NA																	0					0						c.(553-555)GTG>TTG		protein arginine methyltransferase 7							97.0	81.0	87.0					16																	68373273		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68373273G>T	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.553G>T	16.37:g.68373273G>T	ENSP00000343103:p.Val185Leu					PRMT7_uc002evx.1_Missense_Mutation_p.V185L|PRMT7_uc010vlg.1_Missense_Mutation_p.V135L|PRMT7_uc002evz.1_Missense_Mutation_p.V31L	p.V185L	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	8	829	+		Ovarian(137;0.192)	185					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.553G>T	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229665	0.95173	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	0.993;0.968;0.974;1.0	D;D;P;D	0.87578	0.974;0.963;0.78;0.998	T	0.64964	-0.6283	10	0.72032	D	0.01	-27.9041	17.8364	0.88699	0.0:0.0:1.0:0.0	.	135;111;185;185	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	L	135;135;111;185	ENSP00000414716:V135L;ENSP00000409324:V135L;ENSP00000345775:V111L;ENSP00000343103:V185L	ENSP00000343103:V185L	V	+	1	0	PRMT7	66930774	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	9.245000	0.95431	2.884000	0.98904	0.655000	0.94253	GTG		0.517	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		27	50	1	0	7.41945e-09	0.005443	8.96442e-09	27	50				
PKD1L2	114780	broad.mit.edu	37	16	81155284	81155284	+	RNA	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:81155284G>A	ENST00000534142.1	-	0	906				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTACAGGCGGAGGCTCTGCA	0.602																																							uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(6517-6519)CTC>CTT		polycystin 1-like 2 isoform a							44.0	56.0	52.0					16																	81155284		2021	4158	6179			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81155284G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81155284G>A						PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	p.L2173L	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			40	6519	-			2173			Cytoplasmic (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000534142.1	37	c.6519C>T																																																																																					0.602	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			3	17	0	0	0	0.009096	0	3	17				
MBTPS1	8720	broad.mit.edu	37	16	84126810	84126810	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:84126810C>A	ENST00000343411.3	-	6	1324	c.829G>T	c.(829-831)Gtc>Ttc	p.V277F	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	277	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGGTAAAGACCCTGAAAATG	0.463																																							uc002fhi.2		NA																	0				ovary(2)	2						c.(829-831)GTC>TTC		membrane-bound transcription factor site-1							119.0	110.0	113.0					16																	84126810		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84126810C>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.829G>T	16.37:g.84126810C>A	ENSP00000344223:p.Val277Phe						p.V277F	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			6	1331	-			277			Serine protease.|Lumenal (Potential).		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.829G>T	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884997	0.91814	.	.	ENSG00000140943	ENST00000343411	D	0.90261	-2.64	5.3	5.3	0.74995	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.96497	0.8857	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97240	0.9890	10	0.87932	D	0	-30.0633	18.9611	0.92678	0.0:1.0:0.0:0.0	.	277	Q14703	MBTP1_HUMAN	F	277	ENSP00000344223:V277F	ENSP00000344223:V277F	V	-	1	0	MBTPS1	82684311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.472000	0.83506	0.655000	0.94253	GTC		0.463	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		24	51	1	0	3.5997e-14	0.002299	4.97576e-14	24	51				
CDH15	1013	broad.mit.edu	37	16	89261522	89261522	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:89261522C>G	ENST00000289746.2	+	14	2469	c.2404C>G	c.(2404-2406)Cct>Gct	p.P802A		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	802					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGGTCTTTCTCCTGGGGCACT	0.692																																							uc002fmt.2		NA																	0				skin(1)	1						c.(2404-2406)CCT>GCT		cadherin 15 preproprotein							42.0	37.0	38.0					16																	89261522		2188	4291	6479	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89261522C>G	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2404C>G	16.37:g.89261522C>G	ENSP00000289746:p.Pro802Ala						p.P802A	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	14	2481	+			802			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000289746.2	37	c.2404C>G	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640656	0.47153	.	.	ENSG00000129910	ENST00000289746	T	0.56444	0.46	3.96	1.75	0.24633	.	.	.	.	.	T	0.32164	0.0820	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	9	0.87932	D	0	.	10.4381	0.44448	0.0:0.672:0.328:0.0	.	802	P55291	CAD15_HUMAN	A	802	ENSP00000289746:P802A	ENSP00000289746:P802A	P	+	1	0	CDH15	87789023	0.000000	0.05858	0.025000	0.17156	0.092000	0.18411	0.138000	0.16016	0.791000	0.33826	0.491000	0.48974	CCT		0.692	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		15	21	0	0	0	0.00499	0	15	21				
VPS9D1	9605	broad.mit.edu	37	16	89774285	89774285	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:89774285C>T	ENST00000389386.3	-	15	2004	c.1880G>A	c.(1879-1881)gGa>gAa	p.G627E	VPS9D1_ENST00000561976.1_Missense_Mutation_p.G557E	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	627	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GGCCAGGCCTCCCCGGGGCAG	0.647																																							uc002fom.1		NA																	0					0						c.(1879-1881)GGA>GAA		chromosome 16 open reading frame 7							44.0	51.0	49.0					16																	89774285		2108	4229	6337	SO:0001583	missense	9605				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity	g.chr16:89774285C>T	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1880G>A	16.37:g.89774285C>T	ENSP00000374037:p.Gly627Glu					C16orf7_uc002fol.1_Missense_Mutation_p.G557E	p.G627E	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	15	2005	-		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	627			VPS9.			Missense_Mutation	SNP	ENST00000389386.3	37	c.1880G>A	CCDS42220.1	.	.	.	.	.	.	.	.	.	.	c	15.01	2.707594	0.48412	.	.	ENSG00000075399	ENST00000389386	.	.	.	5.24	4.3	0.51218	Vacuolar sorting protein 9 (1);	0.457287	0.21727	N	0.070033	T	0.38957	0.1060	L	0.37897	1.145	0.33215	D	0.553907	P	0.50443	0.935	P	0.47864	0.559	T	0.39881	-0.9592	9	0.07644	T	0.81	-2.967	10.0582	0.42259	0.0:0.9069:0.0:0.0931	.	627	Q9Y2B5	CP007_HUMAN	E	627	.	ENSP00000374037:G627E	G	-	2	0	C16orf7	88301786	0.007000	0.16637	0.476000	0.27291	0.039000	0.13416	2.092000	0.41700	1.242000	0.43836	-0.215000	0.12644	GGA		0.647	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		18	67	0	0	0	0.006122	0	18	67				
PITPNM3	83394	broad.mit.edu	37	17	6386998	6386998	+	Silent	SNP	C	C	A	rs145663997	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:6386998C>A	ENST00000262483.8	-	6	513	c.426G>T	c.(424-426)acG>acT	p.T142T	PITPNM3_ENST00000421306.3_Silent_p.T106T	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	142					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCCCGGCACCCGTGTCCAGGA	0.632																																							uc002gdd.3		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(424-426)ACG>ACT		PITPNM family member 3 isoform 1							102.0	81.0	88.0					17																	6386998		2203	4300	6503	SO:0001819	synonymous_variant	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6386998C>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.426G>T	17.37:g.6386998C>A						PITPNM3_uc010cln.2_Silent_p.T106T|PITPNM3_uc002gdc.3_5'Flank	p.T142T	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	6	577	-			142					A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.426G>T	CCDS11076.1																																																																																				0.632	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		35	38	1	0	1.60099e-16	0.004878	2.28255e-16	35	38				
NLGN2	57555	broad.mit.edu	37	17	7319398	7319398	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:7319398A>G	ENST00000302926.2	+	6	1679	c.1606A>G	c.(1606-1608)Acc>Gcc	p.T536A	NLGN2_ENST00000575301.1_Missense_Mutation_p.T536A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	536					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CGTGGTCATGACCTACTGGAC	0.617																																							uc002ggt.1		NA																	0				central_nervous_system(1)	1						c.(1606-1608)ACC>GCC		neuroligin 2 precursor							54.0	47.0	49.0					17																	7319398		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7319398A>G	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1606A>G	17.37:g.7319398A>G	ENSP00000305288:p.Thr536Ala						p.T536A	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN			6	1679	+		Prostate(122;0.157)	536			Extracellular (Potential).		Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.1606A>G	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.127532	0.77549	.	.	ENSG00000169992	ENST00000302926	T	0.58652	0.32	5.29	5.29	0.74685	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	L	0.43646	1.37	0.80722	D	1	P	0.44816	0.844	P	0.45946	0.498	T	0.59568	-0.7430	10	0.56958	D	0.05	.	13.2244	0.59907	1.0:0.0:0.0:0.0	.	536	Q8NFZ4	NLGN2_HUMAN	A	536	ENSP00000305288:T536A	ENSP00000305288:T536A	T	+	1	0	NLGN2	7260122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.128000	0.94424	2.228000	0.72767	0.533000	0.62120	ACC		0.617	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		3	53	0	0	0	0.004672	0	3	53				
SLFN11	91607	broad.mit.edu	37	17	33679476	33679476	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:33679476G>T	ENST00000394566.1	-	7	2877	c.2605C>A	c.(2605-2607)Cat>Aat	p.H869N	SLFN11_ENST00000308377.4_Missense_Mutation_p.H869N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	869					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCCTTGGATGGATCCCAAAC	0.493																																							uc010ctp.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2605-2607)CAT>AAT		schlafen family member 11							245.0	216.0	226.0					17																	33679476		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679476G>T	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2605C>A	17.37:g.33679476G>T	ENSP00000378067:p.His869Asn					SLFN11_uc010ctq.2_Missense_Mutation_p.H869N|SLFN11_uc002hjh.3_Missense_Mutation_p.H869N|SLFN11_uc002hjg.3_Missense_Mutation_p.H869N|SLFN11_uc010ctr.2_Missense_Mutation_p.H869N	p.H869N	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	3047	-		Ovarian(249;0.17)	869					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2605C>A	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	g	0.022	-1.410606	0.01145	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.81659	-1.52;-1.52	4.0	-6.82	0.01698	.	1.366400	0.04948	N	0.459677	T	0.60521	0.2275	N	0.25144	0.715	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.57277	-0.7839	10	0.02654	T	1	.	8.965	0.35872	0.0:0.2149:0.1569:0.6282	.	869	Q7Z7L1	SLN11_HUMAN	N	869	ENSP00000312402:H869N;ENSP00000378067:H869N	ENSP00000312402:H869N	H	-	1	0	SLFN11	30703589	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	-1.230000	0.02942	-0.966000	0.03587	-0.182000	0.12963	CAT		0.493	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		90	86	1	0	1.90436e-54	0.00361	3.26554e-54	90	86				
KRT40	125115	broad.mit.edu	37	17	39140304	39140304	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:39140304C>A	ENST00000398486.2	-	3	382	c.222G>T	c.(220-222)gtG>gtT	p.V74V	KRT40_ENST00000377755.4_Silent_p.V74V	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	74	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CACAGTTCCCCACCAAGCAGG	0.547																																							uc010cxh.1		NA																	0					0						c.(220-222)GTG>GTT		type I hair keratin KA36							131.0	134.0	133.0					17																	39140304		2185	4269	6454	SO:0001819	synonymous_variant	125115					intermediate filament	structural molecule activity	g.chr17:39140304C>A	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.222G>T	17.37:g.39140304C>A						KRT40_uc002hvq.1_RNA	p.V74V	NM_182497	NP_872303	Q6A162	K1C40_HUMAN			3	383	-		Breast(137;0.00043)	74			Head.		Q6IFU5	Silent	SNP	ENST00000398486.2	37	c.222G>T	CCDS42320.1																																																																																				0.547	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		107	78	1	0	6.17951e-33	0.00361	1.01768e-32	107	78				
KRTAP9-8	83901	broad.mit.edu	37	17	39394532	39394532	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:39394532C>T	ENST00000254072.6	+	1	236	c.229C>T	c.(229-231)Cag>Tag	p.Q77*		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	77	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCCTGCTGTCAGCCCACCTG	0.617																																							uc002hwh.3		NA																	0				ovary(1)	1						c.(229-231)CAG>TAG		keratin associated protein 9.8							79.0	83.0	82.0					17																	39394532		2101	4300	6401	SO:0001587	stop_gained	83901					keratin filament		g.chr17:39394532C>T	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.229C>T	17.37:g.39394532C>T	ENSP00000254072:p.Gln77*					KRTAP9-9_uc010wfq.1_Intron	p.Q77*	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	263	+		Breast(137;0.000496)	77			10.|15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].			Nonsense_Mutation	SNP	ENST00000254072.6	37	c.229C>T	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	19.56	3.851080	0.71719	.	.	ENSG00000187272	ENST00000254072	.	.	.	2.82	0.452	0.16634	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	6.5625	0.22493	0.1798:0.3887:0.4316:0.0	.	.	.	.	X	77	.	ENSP00000254072:Q77X	Q	+	1	0	KRTAP9-8	36648058	0.000000	0.05858	0.022000	0.16811	0.833000	0.47200	-1.205000	0.03014	-0.011000	0.14247	0.558000	0.71614	CAG		0.617	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			32	114	0	0	0	0.002836	0	32	114				
CRHR1	1394	broad.mit.edu	37	17	43893861	43893862	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:43893861_43893862GG>TT	ENST00000398285.3	+	3	154_155	c.154_155GG>TT	c.(154-156)GGc>TTc	p.G52F	CRHR1_ENST00000314537.5_Missense_Mutation_p.G52F|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000577353.1_Missense_Mutation_p.G52F|CRHR1_ENST00000352855.5_Intron|CRHR1_ENST00000339069.5_5'UTR|RP11-105N13.4_ENST00000587305.1_RNA	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	52					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGACCTCATTGGCACCTGCTGG	0.614																																					Ovarian(110;57 1568 10207 38216 49865)	Ovarian(110;57 1568 10207 38216 49865)	uc010dap.2		NA																	0				lung(3)	3						c.(154-156)GGC>TTC		corticotropin releasing hormone receptor 1																																				SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43893861_43893862GG>TT	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		Exception_encountered	17.37:g.43893861_43893862delinsTT	ENSP00000381333:p.Gly52Phe					CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_5'UTR|CRHR1_uc002ijm.2_Missense_Mutation_p.G52F|CRHR1_uc002ijn.2_Intron|CRHR1_uc010dar.2_Missense_Mutation_p.G52F|CRHR1_uc010dao.2_5'UTR|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_Intron	p.G52F	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	3	419_420	+	Colorectal(2;0.0416)		52			Extracellular (Potential).		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	DNP	ENST00000398285.3	37	c.154_155GG>TT	CCDS45712.1																																																																																				0.614	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			14	38	0	0	0	0.004672	0	14	38				
ITGB3	3690	broad.mit.edu	37	17	45376782	45376782	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:45376782T>A	ENST00000559488.1	+	11	1815	c.1799T>A	c.(1798-1800)cTg>cAg	p.L600Q	ITGB3_ENST00000560629.1_Silent_p.A588A|ITGB3_ENST00000435993.2_Missense_Mutation_p.L553Q	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	600	Cysteine-rich tandem repeats.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	AATGGGCTGCTGTGCAGCGGC	0.617																																							uc002ilj.2		NA																	0				central_nervous_system(5)|large_intestine(1)	6						c.(1798-1800)CTG>CAG		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						88.0	82.0	84.0					17																	45376782		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45376782T>A		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1799T>A	17.37:g.45376782T>A	ENSP00000452786:p.Leu600Gln					ITGB3_uc010wkr.1_RNA	p.L600Q	NM_000212	NP_000203	P05106	ITB3_HUMAN			11	1819	+			600			IV.|Extracellular (Potential).|Cysteine-rich tandem repeats.		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1799T>A	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.044146	0.93685	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.93763	-3.28	5.84	5.84	0.93424	EGF, extracellular (1);	0.068596	0.64402	D	0.000015	D	0.94653	0.8276	L	0.49455	1.56	0.58432	D	0.999999	D	0.61080	0.989	P	0.58970	0.849	D	0.95122	0.8247	10	0.87932	D	0	.	15.185	0.72993	0.0:0.0:0.0:1.0	.	600	P05106	ITB3_HUMAN	Q	600;553	ENSP00000407801:L553Q	ENSP00000262017:L600Q	L	+	2	0	C17orf57	42731781	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.188000	0.72045	2.235000	0.73313	0.454000	0.30748	CTG		0.617	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		38	88	0	0	0	0.00623	0	38	88				
ACSF2	80221	broad.mit.edu	37	17	48551068	48551068	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:48551068G>A	ENST00000300441.4	+	13	1622	c.1518G>A	c.(1516-1518)gtG>gtA	p.V506V	ACSF2_ENST00000541920.1_Silent_p.V346V|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000504392.1_Silent_p.V463V|ACSF2_ENST00000502667.1_Silent_p.V493V|ACSF2_ENST00000427954.2_Silent_p.V531V	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	506					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAAGATCGTGGGCCGCTCTA	0.547																																							uc002iqu.2		NA																	0					0						c.(1516-1518)GTG>GTA		acyl-CoA synthetase family member 2 precursor							107.0	98.0	101.0					17																	48551068		2203	4300	6503	SO:0001819	synonymous_variant	80221				fatty acid metabolic process	mitochondrion	ATP binding|ligase activity	g.chr17:48551068G>A	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1518G>A	17.37:g.48551068G>A						ACSF2_uc010wml.1_Silent_p.V463V|ACSF2_uc010wmm.1_Silent_p.V531V|ACSF2_uc010wmn.1_Silent_p.V493V|ACSF2_uc010wmo.1_Silent_p.V346V|ACSF2_uc010dbt.1_Silent_p.V10V	p.V506V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		13	1622	+	Breast(11;1.93e-18)		506					B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Silent	SNP	ENST00000300441.4	37	c.1518G>A	CCDS11567.1																																																																																				0.547	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		71	43	0	0	0	0.00361	0	71	43				
SPAG9	9043	broad.mit.edu	37	17	49197912	49197912	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:49197912C>T	ENST00000262013.7	-	1	314	c.106G>A	c.(106-108)Gag>Aag	p.E36K	SPAG9_ENST00000357122.4_Missense_Mutation_p.E36K|SPAG9_ENST00000505279.1_Missense_Mutation_p.E36K	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	36					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATAAGCCGCTCGAACTCGCGG	0.667																																							uc002itc.2		NA																	0				lung(4)|breast(1)	5						c.(106-108)GAG>AAG		sperm associated antigen 9 isoform 1							45.0	41.0	42.0					17																	49197912		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49197912C>T	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.106G>A	17.37:g.49197912C>T	ENSP00000262013:p.Glu36Lys					SPAG9_uc002itb.2_Missense_Mutation_p.E36K|SPAG9_uc002itd.2_Missense_Mutation_p.E36K	p.E36K	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		1	315	-			36					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.106G>A	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341625	0.95783	.	.	ENSG00000008294	ENST00000262013;ENST00000505279;ENST00000357122;ENST00000546269	T;T;T	0.64803	-0.12;-0.12;-0.12	3.66	3.66	0.41972	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.64402	U	0.000007	T	0.77458	0.4133	M	0.70903	2.155	0.58432	D	0.999999	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.87578	0.875;0.998;0.998	T	0.80930	-0.1162	10	0.59425	D	0.04	-8.9842	15.768	0.78143	0.0:1.0:0.0:0.0	.	36;36;36	O60271-2;O60271;O60271-4	.;JIP4_HUMAN;.	K	36	ENSP00000262013:E36K;ENSP00000426900:E36K;ENSP00000349636:E36K	ENSP00000262013:E36K	E	-	1	0	SPAG9	46552911	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.981000	0.76166	1.757000	0.51966	0.298000	0.19748	GAG		0.667	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		12	21	0	0	0	0.001855	0	12	21				
BZRAP1	9256	broad.mit.edu	37	17	56386681	56386681	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:56386681C>A	ENST00000343736.4	-	22	4115	c.3952G>T	c.(3952-3954)Gag>Tag	p.E1318*	BZRAP1_ENST00000355701.3_Nonsense_Mutation_p.E1318*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.E1258*			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1318						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGGCAGCTCCAGGATCTGC	0.592																																							uc002ivx.3		NA																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(3952-3954)GAG>TAG		peripheral benzodiazepine receptor-associated							53.0	56.0	55.0					17																	56386681		2203	4300	6503	SO:0001587	stop_gained	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386681C>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3952G>T	17.37:g.56386681C>A	ENSP00000345824:p.Glu1318*					BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Nonsense_Mutation_p.E1258*|BZRAP1_uc010wnt.1_Nonsense_Mutation_p.E1318*	p.E1318*	NM_004758	NP_004749	O95153	RIMB1_HUMAN			22	4823	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1318					O75111|Q8N5W3	Nonsense_Mutation	SNP	ENST00000343736.4	37	c.3952G>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	c	43	10.486646	0.99414	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	.	.	.	4.93	4.93	0.64822	.	0.113668	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.3075	0.87199	0.0:1.0:0.0:0.0	.	.	.	.	X	1318;1318;1258	.	ENSP00000268893:E1258X	E	-	1	0	BZRAP1	53741680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.187000	0.58344	2.570000	0.86706	0.558000	0.71614	GAG		0.592	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		20	56	1	0	1.87028e-06	0.001882	2.1704e-06	20	56				
BRIP1	83990	broad.mit.edu	37	17	59876591	59876591	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:59876591C>T	ENST00000259008.2	-	9	1477	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	BRIP1_ENST00000577598.1_Missense_Mutation_p.E404K	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	404	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTGCTGATTCCCGAGCACAG	0.358			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															uc002izk.1		NA	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(1210-1212)GAA>AAA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							123.0	113.0	116.0					17																	59876591		2203	4300	6503	SO:0001583	missense	83990	FanconAnemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59876591C>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1210G>A	17.37:g.59876591C>T	ENSP00000259008:p.Glu404Lys						p.E404K	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			9	1351	-			404			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.1210G>A	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	35	5.534936	0.96460	.	.	ENSG00000136492	ENST00000259008	T	0.63096	-0.02	5.78	5.78	0.91487	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.84097	0.5397	M	0.92026	3.265	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.86677	0.1914	9	.	.	.	-23.4047	18.9841	0.92763	0.0:1.0:0.0:0.0	.	404	Q9BX63	FANCJ_HUMAN	K	404	ENSP00000259008:E404K	.	E	-	1	0	BRIP1	57231373	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.010000	0.76353	2.737000	0.93849	0.585000	0.79938	GAA		0.358	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		35	52	0	0	0	0.003755	0	35	52				
BPTF	2186	broad.mit.edu	37	17	65850718	65850718	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:65850718G>A	ENST00000321892.4	+	2	1337	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	BPTF_ENST00000306378.6_Missense_Mutation_p.E426K|BPTF_ENST00000335221.5_Missense_Mutation_p.E426K|BPTF_ENST00000424123.3_Missense_Mutation_p.E287K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	426					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGAGGTGCCAGAGGACGAGTG	0.453																																							uc002jgf.2		NA																	0				ovary(2)|skin(2)	4						c.(1276-1278)GAG>AAG		bromodomain PHD finger transcription factor							191.0	176.0	181.0					17																	65850718		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65850718G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1276G>A	17.37:g.65850718G>A	ENSP00000315454:p.Glu426Lys					BPTF_uc002jge.2_Missense_Mutation_p.E426K|BPTF_uc010wqm.1_Missense_Mutation_p.E426K	p.E426K	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	1337	+	all_cancers(12;6e-11)		426			PHD-type 1.		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1276G>A		.	.	.	.	.	.	.	.	.	.	G	17.29	3.351484	0.61183	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.21932	1.98;1.98;1.98	5.62	5.62	0.85841	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);	.	.	.	.	T	0.28200	0.0696	N	0.04355	-0.22	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.83275	0.996;0.991;0.995	T	0.47086	-0.9144	9	0.56958	D	0.05	.	19.6584	0.95853	0.0:0.0:1.0:0.0	.	426;426;426	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	K	331;426;426;426;287	ENSP00000307208:E426K;ENSP00000334351:E426K;ENSP00000315454:E426K	ENSP00000307208:E426K	E	+	1	0	BPTF	63281180	1.000000	0.71417	0.954000	0.39281	0.957000	0.61999	9.869000	0.99810	2.646000	0.89796	0.655000	0.94253	GAG		0.453	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		15	156	0	0	0	0.00245	0	15	156				
ABCA5	23461	broad.mit.edu	37	17	67251713	67251713	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:67251713C>A	ENST00000392676.3	-	31	4103	c.4039G>T	c.(4039-4041)Gtt>Ttt	p.V1347F	ABCA5_ENST00000588877.1_Missense_Mutation_p.V1347F|ABCA5_ENST00000392677.2_Missense_Mutation_p.V1348F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1347	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATATCACCAACCAGAATATTA	0.308																																							uc002jif.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(4039-4041)GTT>TTT		ATP-binding cassette, sub-family A , member 5							41.0	43.0	42.0					17																	67251713		2203	4296	6499	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67251713C>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4039G>T	17.37:g.67251713C>A	ENSP00000376443:p.Val1347Phe					ABCA5_uc002jib.2_Missense_Mutation_p.V313F|ABCA5_uc002jic.2_Missense_Mutation_p.V570F|ABCA5_uc002jid.2_Missense_Mutation_p.V264F|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.V1347F	p.V1347F	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			30	5257	-	Breast(10;3.72e-11)		1347			ABC transporter 2.		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.4039G>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403016	0.62288	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.93366	-3.21;-3.21	5.62	4.64	0.57946	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.103105	0.42821	D	0.000652	D	0.92919	0.7747	M	0.79614	2.46	0.47065	D	0.999305	B	0.32425	0.371	B	0.36289	0.221	D	0.91270	0.5043	9	.	.	.	.	14.307	0.66391	0.0:0.9286:0.0:0.0714	.	1347	Q8WWZ7	ABCA5_HUMAN	F	1348;1347	ENSP00000376444:V1348F;ENSP00000376443:V1347F	.	V	-	1	0	ABCA5	64763308	0.967000	0.33354	0.990000	0.47175	0.988000	0.76386	2.231000	0.43009	2.810000	0.96702	0.650000	0.86243	GTT		0.308	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		13	25	1	0	0.000308642	0.003163	0.00033264	13	25				
SDK2	54549	broad.mit.edu	37	17	71354288	71354288	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:71354288G>A	ENST00000392650.3	-	40	5523	c.5523C>T	c.(5521-5523)gcC>gcT	p.A1841A	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.A1822A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1841	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCAGTGAATGGCGATGGCAG	0.657																																							uc010dfm.2		NA																	0				ovary(2)	2						c.(5521-5523)GCC>GCT		sidekick 2							145.0	132.0	137.0					17																	71354288		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71354288G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5523C>T	17.37:g.71354288G>A						SDK2_uc002jjt.3_Silent_p.A981A|SDK2_uc010dfn.2_Silent_p.A1520A	p.A1841A	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			40	5523	-			1841			Fibronectin type-III 13.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.5523C>T	CCDS45769.1																																																																																				0.657	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		24	229	0	0	0	0.00333	0	24	229				
BAHCC1	57597	broad.mit.edu	37	17	79411726	79411726	+	Missense_Mutation	SNP	C	C	G	rs557626485		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:79411726C>G	ENST00000307745.7	+	12	2545	c.2545C>G	c.(2545-2547)Ccc>Gcc	p.P849A																								CCAGAACCTGCCCCCCGGCTT	0.706																																							uc002kaf.2		NA																	0				ovary(1)	1						c.(2545-2547)CCC>GCC		BAH domain and coiled-coil containing 1							29.0	38.0	35.0					17																	79411726		2030	4151	6181	SO:0001583	missense	57597						DNA binding	g.chr17:79411726C>G																												ENST00000307745.7:c.2545C>G	17.37:g.79411726C>G	ENSP00000303486:p.Pro849Ala					BAHCC1_uc002kae.2_Missense_Mutation_p.P48A	p.P849A	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		6	2545	+	all_neural(118;0.0804)|Melanoma(429;0.242)		849			Pro-rich.			Missense_Mutation	SNP	ENST00000307745.7	37	c.2545C>G		.	.	.	.	.	.	.	.	.	.	C	11.99	1.802474	0.31869	.	.	ENSG00000171282	ENST00000307745	T	0.57752	0.38	4.65	3.68	0.42216	.	0.000000	0.51477	D	0.000091	T	0.63931	0.2553	L	0.53249	1.67	0.44337	D	0.997228	D;D	0.89917	0.996;1.0	P;D	0.77004	0.787;0.989	T	0.59716	-0.7402	10	0.23302	T	0.38	.	12.4691	0.55777	0.0:0.9175:0.0:0.0825	.	849;849	Q9P281;F8WBW8	BAHC1_HUMAN;.	A	849	ENSP00000303486:P849A	ENSP00000303486:P849A	P	+	1	0	AC110285.1	77026321	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	1.543000	0.36147	1.163000	0.42636	-0.229000	0.12294	CCC		0.706	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				21	61	0	0	0	0.00278	0	21	61				
LPIN2	9663	broad.mit.edu	37	18	2937988	2937988	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:2937988A>C	ENST00000261596.4	-	7	1108	c.870T>G	c.(868-870)atT>atG	p.I290M		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	290					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTGATGGTGTAATTGTAGCTG	0.368																																							uc002klo.2		NA																	0				ovary(1)|skin(1)	2						c.(868-870)ATT>ATG		lipin 2							154.0	146.0	149.0					18																	2937988		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2937988A>C	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.870T>G	18.37:g.2937988A>C	ENSP00000261596:p.Ile290Met						p.I290M	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	7	1109	-			290					A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.870T>G	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.397242	0.42512	.	.	ENSG00000101577	ENST00000261596	T	0.81330	-1.48	5.86	-1.72	0.08107	.	0.473075	0.26003	N	0.026926	T	0.74261	0.3693	M	0.80183	2.485	0.51012	D	0.999907	P	0.42248	0.774	B	0.33799	0.17	T	0.71471	-0.4583	10	0.32370	T	0.25	.	11.6931	0.51527	0.518:0.0:0.482:0.0	.	290	Q92539	LPIN2_HUMAN	M	290	ENSP00000261596:I290M	ENSP00000261596:I290M	I	-	3	3	LPIN2	2927988	0.954000	0.32549	0.950000	0.38849	0.992000	0.81027	0.004000	0.13106	-0.071000	0.12886	0.533000	0.62120	ATT		0.368	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		10	152	0	0	0	0.006214	0	10	152				
LAMA1	284217	broad.mit.edu	37	18	6949140	6949140	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:6949140C>A	ENST00000389658.3	-	59	8609	c.8516G>T	c.(8515-8517)gGa>gTa	p.G2839V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2839	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGGCAGGCCTCCTAGGTAGAA	0.473																																							uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(8515-8517)GGA>GTA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						97.0	80.0	86.0					18																	6949140		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6949140C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8516G>T	18.37:g.6949140C>A	ENSP00000374309:p.Gly2839Val					LAMA1_uc002knk.2_Missense_Mutation_p.G169V|LAMA1_uc002knl.2_Missense_Mutation_p.G292V|LAMA1_uc010wzj.1_Missense_Mutation_p.G2315V	p.G2839V	NM_005559	NP_005550	P25391	LAMA1_HUMAN			59	8610	-		Colorectal(10;0.172)	2839			Laminin G-like 4.			Missense_Mutation	SNP	ENST00000389658.3	37	c.8516G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094225	0.56075	.	.	ENSG00000101680	ENST00000389658	D	0.96716	-4.1	5.64	5.64	0.86602	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99490	1.0950	10	0.87932	D	0	.	19.3012	0.94144	0.0:1.0:0.0:0.0	.	2839;169	P25391;B3KSD8	LAMA1_HUMAN;.	V	2839	ENSP00000374309:G2839V	ENSP00000374309:G2839V	G	-	2	0	LAMA1	6939140	1.000000	0.71417	0.993000	0.49108	0.013000	0.08279	6.460000	0.73518	2.649000	0.89929	0.555000	0.69702	GGA		0.473	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		28	31	1	0	1.17739e-12	0.005443	1.56672e-12	28	31				
TXNDC2	84203	broad.mit.edu	37	18	9887087	9887087	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:9887087C>T	ENST00000306084.6	+	2	810	c.611C>T	c.(610-612)cCc>cTc	p.P204L	TXNDC2_ENST00000357775.5_Missense_Mutation_p.P137L|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	204	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCATCCAGCCCAAAGAGGGT	0.577																																							uc002koi.3		NA																	0				ovary(1)|pancreas(1)	2						c.(610-612)CCC>CTC		thioredoxin domain-containing 2 isoform 2							151.0	153.0	153.0					18																	9887087		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887087C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.611C>T	18.37:g.9887087C>T	ENSP00000304908:p.Pro204Leu					TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Missense_Mutation_p.P137L	p.P204L	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	1060	+			204			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|7.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.611C>T	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	c	9.194	1.026649	0.19512	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16597	2.33;2.33	3.48	-0.854	0.10705	.	1.526980	0.04307	N	0.348217	T	0.15349	0.0370	L	0.52011	1.625	0.09310	N	1	B	0.18863	0.031	B	0.18263	0.021	T	0.30446	-0.9978	9	.	.	.	-1.1384	3.9942	0.09551	0.1685:0.5015:0.0:0.3299	.	204	Q86VQ3	TXND2_HUMAN	L	137;204;204	ENSP00000350419:P137L;ENSP00000304908:P204L	.	P	+	2	0	TXNDC2	9877087	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.247000	0.08866	0.025000	0.15241	-0.284000	0.09977	CCC		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			89	215	0	0	0	0.00361	0	89	215				
MPPE1	65258	broad.mit.edu	37	18	11886778	11886778	+	Splice_Site	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:11886778C>A	ENST00000588072.1	-	8	1900		c.e8-1		MPPE1_ENST00000317235.7_Intron|MPPE1_ENST00000309976.9_Intron|MPPE1_ENST00000592755.1_5'Flank|MPPE1_ENST00000344987.7_Intron|MPPE1_ENST00000399978.2_Missense_Mutation_p.Q227H	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1						ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						AGCCACGTGCCTGCTGGGTAC	0.632																																							uc002kqf.2		NA																	0					0						c.e8-1		metallophosphoesterase 1 precursor							29.0	28.0	28.0					18																	11886778		2202	4300	6502	SO:0001630	splice_region_variant	65258				ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity	g.chr18:11886778C>A	BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.679-1G>T	18.37:g.11886778C>A						MPPE1_uc002kqn.2_Intron|MPPE1_uc002kqg.2_Splice_Site|MPPE1_uc002kqh.2_RNA|MPPE1_uc002kqi.2_Splice_Site|MPPE1_uc002kqj.2_Missense_Mutation_p.Q227H|MPPE1_uc002kqk.2_Intron|MPPE1_uc002kql.2_Missense_Mutation_p.Q227H|MPPE1_uc002kqm.2_Intron|MPPE1_uc010dla.1_Missense_Mutation_p.Q227H	p.A227_splice	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN			8	1320	-								B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Splice_Site	SNP	ENST00000588072.1	37	c.679_splice	CCDS11853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.77|12.77	2.037139|2.037139	0.35893|0.35893	.|.	.|.	ENSG00000154889|ENSG00000154889	ENST00000309976;ENST00000317251|ENST00000344987;ENST00000399978	.|T	.|0.17854	.|2.25	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.681807	.|0.14382	.|U	.|0.323095	.|T	.|0.13157	.|0.0319	.|.	.|.	.|.	0.28152|0.28152	N|N	0.929337|0.929337	.|B	.|0.12013	.|0.005	.|B	.|0.09377	.|0.004	.|T	.|0.11867	.|-1.0570	.|8	.|.	.|.	.|.	.|-16.3174	16.6379|16.6379	0.85064|0.85064	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|227	.|Q53F39-3	.|.	.|H	-1|227	.|ENSP00000382860:Q227H	.|.	.|Q	-|-	.|3	.|2	MPPE1|MPPE1	11876778|11876778	0.951000|0.951000	0.32395|0.32395	0.946000|0.946000	0.38457|0.38457	0.142000|0.142000	0.21351|0.21351	1.536000|1.536000	0.36072|0.36072	2.595000|2.595000	0.87683|0.87683	0.655000|0.655000	0.94253|0.94253	.|CAG		0.632	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	NM_023075	Intron	25	36	1	0	4.4004e-07	0.00333	5.15446e-07	25	36				
DSC2	1824	broad.mit.edu	37	18	28651738	28651738	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:28651738C>T	ENST00000280904.6	-	13	2401	c.1958G>A	c.(1957-1959)aGa>aAa	p.R653K	snoU13_ENST00000459603.1_RNA|DSC2_ENST00000251081.6_Missense_Mutation_p.R653K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	653	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAGTCTATCTCTCACTGTTAT	0.388																																							uc002kwl.3		NA																	0				ovary(2)|skin(1)	3						c.(1957-1959)AGA>AAA		desmocollin 2 isoform Dsc2a preproprotein							117.0	97.0	103.0					18																	28651738		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28651738C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1958G>A	18.37:g.28651738C>T	ENSP00000280904:p.Arg653Lys					DSC2_uc002kwk.3_Missense_Mutation_p.R653K	p.R653K	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		13	2412	-			653			Extracellular (Potential).|Cadherin 5.			Missense_Mutation	SNP	ENST00000280904.6	37	c.1958G>A	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	2.207	-0.381533	0.05000	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.60672	0.17;0.17	6.16	2.27	0.28462	Cadherin (2);Cadherin-like (1);	1.131400	0.06983	N	0.820349	T	0.28034	0.0691	N	0.02158	-0.66	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.21143	-1.0254	10	0.12430	T	0.62	.	7.1665	0.25693	0.0641:0.2949:0.4841:0.1569	.	653;653	Q02487;Q02487-2	DSC2_HUMAN;.	K	653;653;419;666	ENSP00000251081:R653K;ENSP00000280904:R653K	ENSP00000251081:R653K	R	-	2	0	DSC2	26905736	0.000000	0.05858	0.163000	0.22734	0.003000	0.03518	-0.127000	0.10547	0.924000	0.37069	-0.171000	0.13296	AGA		0.388	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		14	30	0	0	0	0.00245	0	14	30				
DSC1	1823	broad.mit.edu	37	18	28720033	28720033	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:28720033G>A	ENST00000257198.5	-	10	1753	c.1492C>T	c.(1492-1494)Ccg>Tcg	p.P498S	DSC1_ENST00000257197.3_Missense_Mutation_p.P498S|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	498	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GATATTTCCGGGTCCAGTGCT	0.408																																							uc002kwn.2		NA																	0				ovary(3)|skin(1)	4						c.(1492-1494)CCG>TCG		desmocollin 1 isoform Dsc1a preproprotein							77.0	81.0	80.0					18																	28720033		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28720033G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1492C>T	18.37:g.28720033G>A	ENSP00000257198:p.Pro498Ser					DSC1_uc002kwm.2_Missense_Mutation_p.P498S	p.P498S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		10	1754	-			498			Extracellular (Potential).|Cadherin 4.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1492C>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098632	0.56183	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.61980	0.06;0.06	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000063	D	0.83991	0.5374	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.971	D	0.86920	0.2066	10	0.87932	D	0	.	17.9032	0.88911	0.0:0.0:1.0:0.0	.	498;498	Q08554;Q9HB00	DSC1_HUMAN;.	S	498	ENSP00000257197:P498S;ENSP00000257198:P498S	ENSP00000257197:P498S	P	-	1	0	DSC1	26974031	1.000000	0.71417	0.979000	0.43373	0.034000	0.12701	5.308000	0.65768	2.761000	0.94854	0.650000	0.86243	CCG		0.408	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		18	81	0	0	0	0.00499	0	18	81				
KLHL14	57565	broad.mit.edu	37	18	30267189	30267189	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:30267189G>T	ENST00000359358.4	-	5	1605	c.1167C>A	c.(1165-1167)caC>caA	p.H389Q		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	389						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AATTTGTACTGTGTTTTCCTG	0.363																																							uc002kxm.1		NA																	0				ovary(1)	1						c.(1165-1167)CAC>CAA		kelch-like 14							145.0	137.0	140.0					18																	30267189		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30267189G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1167C>A	18.37:g.30267189G>T	ENSP00000352314:p.His389Gln					KLHL14_uc010dmd.1_5'UTR	p.H389Q	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			5	1555	-			389			Kelch 2.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.1167C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943510	0.73672	.	.	ENSG00000197705	ENST00000359358	T	0.76839	-1.05	5.17	2.79	0.32731	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	N	0.04162	-0.26	0.80722	D	1	D	0.54772	0.968	D	0.72625	0.978	T	0.70857	-0.4758	10	0.40728	T	0.16	.	10.4995	0.44798	0.1306:0.0:0.8694:0.0	.	389	Q9P2G3	KLH14_HUMAN	Q	389	ENSP00000352314:H389Q	ENSP00000352314:H389Q	H	-	3	2	KLHL14	28521187	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.171000	0.50824	0.243000	0.21327	0.563000	0.77884	CAC		0.363	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			63	97	1	0	7.37877e-41	0.00361	1.23973e-40	63	97				
CCDC178	374864	broad.mit.edu	37	18	30926228	30926228	+	Missense_Mutation	SNP	A	A	T	rs148510384		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:30926228A>T	ENST00000383096.3	-	9	787	c.605T>A	c.(604-606)aTt>aAt	p.I202N	CCDC178_ENST00000300227.8_Missense_Mutation_p.I202N|CCDC178_ENST00000402325.1_Missense_Mutation_p.I202N|CCDC178_ENST00000406524.2_Missense_Mutation_p.I202N|CCDC178_ENST00000583930.1_Missense_Mutation_p.I202N|CCDC178_ENST00000403303.1_Missense_Mutation_p.I202N|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.I202N			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	202																	CCAAGAGTCAATTTTCATGTT	0.388																																							uc002kxn.2		NA																	0				ovary(1)	1						c.(604-606)ATT>AAT		hypothetical protein LOC374864 isoform 1							116.0	115.0	115.0					18																	30926228		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30926228A>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.605T>A	18.37:g.30926228A>T	ENSP00000372576:p.Ile202Asn					C18orf34_uc010xbr.1_Missense_Mutation_p.I202N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.I202N|C18orf34_uc002kxp.2_Missense_Mutation_p.I202N	p.I202N	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			8	747	-			202			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.605T>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	9.260	1.042982	0.19748	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.60920	1.61;1.61;1.6;1.61;1.6;0.15	5.59	5.59	0.84812	.	.	.	.	.	T	0.69251	0.3090	L	0.55990	1.75	0.30634	N	0.757174	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.997;0.997;0.997	T	0.70193	-0.4939	9	0.87932	D	0	-17.98	8.3631	0.32369	0.9122:0.0:0.0878:0.0	.	202;202;202;202	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	N	202	ENSP00000385591:I202N;ENSP00000372576:I202N;ENSP00000300227:I202N;ENSP00000385867:I202N;ENSP00000385234:I202N;ENSP00000382130:I202N	ENSP00000300227:I202N	I	-	2	0	C18orf34	29180226	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	3.974000	0.56852	2.129000	0.65627	0.455000	0.32223	ATT		0.388	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		5	89	0	0	0	0.000602	0	5	89				
NOL4	8715	broad.mit.edu	37	18	31538225	31538225	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:31538225G>T	ENST00000261592.5	-	7	1511	c.1214C>A	c.(1213-1215)gCc>gAc	p.A405D	NOL4_ENST00000589544.1_Missense_Mutation_p.A405D|NOL4_ENST00000535475.1_Missense_Mutation_p.A250D|NOL4_ENST00000269185.4_Missense_Mutation_p.A291D|NOL4_ENST00000535384.1_Missense_Mutation_p.A120D|NOL4_ENST00000538587.1_Missense_Mutation_p.A331D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	405						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						CAGCCGCTCGGCTTCAACGCC	0.473																																							uc010dmi.2		NA																	0				ovary(3)	3						c.(1213-1215)GCC>GAC		nucleolar protein 4							165.0	142.0	150.0					18																	31538225		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31538225G>T	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.1214C>A	18.37:g.31538225G>T	ENSP00000261592:p.Ala405Asp					NOL4_uc010xbs.1_Missense_Mutation_p.A120D|NOL4_uc002kxr.3_Missense_Mutation_p.A241D|NOL4_uc010xbt.1_Missense_Mutation_p.A331D|NOL4_uc010dmh.2_Missense_Mutation_p.A331D|NOL4_uc010xbu.1_Missense_Mutation_p.A405D|NOL4_uc002kxt.3_Missense_Mutation_p.A405D|NOL4_uc010xbv.1_Missense_Mutation_p.A154D|NOL4_uc010xbw.1_Missense_Mutation_p.A291D	p.A405D	NM_003787	NP_003778	O94818	NOL4_HUMAN			7	1443	-			405					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1214C>A	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096316	0.76870	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	T;T	0.80824	-1.42;-1.42	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000002	D	0.85881	0.5800	L	0.38531	1.155	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.997;0.994;0.999;0.997;0.99;0.999	D;D;D;P;D;D;P;D	0.70935	0.949;0.961;0.911;0.891;0.971;0.911;0.844;0.961	D	0.87008	0.2121	10	0.72032	D	0.01	-12.069	19.3955	0.94605	0.0:0.0:1.0:0.0	.	291;154;120;331;405;120;405;250	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	D	405;291;154;120;250;331	ENSP00000445733:A120D;ENSP00000443472:A331D	ENSP00000261592:A405D	A	-	2	0	NOL4	29792223	1.000000	0.71417	0.933000	0.37362	0.964000	0.63967	9.476000	0.97823	2.572000	0.86782	0.557000	0.71058	GCC		0.473	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		69	68	1	0	1.55545e-33	0.00361	2.57863e-33	69	68				
CDH20	28316	broad.mit.edu	37	18	59174760	59174760	+	Silent	SNP	C	C	A	rs150698717		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:59174760C>A	ENST00000262717.4	+	6	1382	c.984C>A	c.(982-984)ccC>ccA	p.P328P	CDH20_ENST00000538374.1_Silent_p.P328P|CDH20_ENST00000536675.2_Silent_p.P328P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	328	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> H (in dbSNP:rs1943330).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GCACAGATCCCAATTTCCAAG	0.398																																							uc010dps.1		NA																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(982-984)CCC>CCA		cadherin 20, type 2 preproprotein							165.0	140.0	148.0					18																	59174760		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59174760C>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.984C>A	18.37:g.59174760C>A						CDH20_uc002lif.2_Silent_p.P322P	p.P328P	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			5	996	+		Colorectal(73;0.186)	328			Extracellular (Potential).|Cadherin 3.		Q495S3	Silent	SNP	ENST00000262717.4	37	c.984C>A	CCDS11977.1																																																																																				0.398	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		28	35	1	0	2.12542e-12	0.00632	2.81322e-12	28	35				
CDH7	1005	broad.mit.edu	37	18	63430201	63430201	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:63430201G>T	ENST00000397968.2	+	2	549	c.123G>T	c.(121-123)ggG>ggT	p.G41G	CDH7_ENST00000323011.3_Silent_p.G41G|CDH7_ENST00000536984.2_Silent_p.G41G	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	41					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCCAATCAGGGAGGTCCCGGA	0.488																																							uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(121-123)GGG>GGT		cadherin 7, type 2 preproprotein							103.0	97.0	99.0					18																	63430201		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63430201G>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.123G>T	18.37:g.63430201G>T						CDH7_uc002lka.2_Silent_p.G41G|CDH7_uc002lkb.2_Silent_p.G41G	p.G41G	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			2	448	+		Esophageal squamous(42;0.129)	41			Extracellular (Potential).		Q9H157	Silent	SNP	ENST00000397968.2	37	c.123G>T	CCDS11993.1																																																																																				0.488	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		7	48	1	0	2.0095e-06	0.001984	2.32116e-06	7	48				
NETO1	81832	broad.mit.edu	37	18	70417797	70417797	+	Silent	SNP	G	G	T	rs201042448		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:70417797G>T	ENST00000327305.6	-	9	1698	c.1041C>A	c.(1039-1041)ggC>ggA	p.G347G	NETO1_ENST00000583169.1_Silent_p.G347G|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000299430.2_Silent_p.G346G	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	347					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGGAAGTCACGCCAATGACAG	0.453																																							uc002lkw.2		NA																	0				ovary(2)|skin(2)	4						c.(1039-1041)GGC>GGA		neuropilin- and tolloid-like protein 1 isoform 3							78.0	60.0	66.0					18																	70417797		2203	4299	6502	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417797G>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1041C>A	18.37:g.70417797G>T						NETO1_uc002lkx.1_Silent_p.G346G|NETO1_uc002lky.1_Silent_p.G347G	p.G347G	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1325	-		Esophageal squamous(42;0.129)	347			Helical; (Potential).		Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.1041C>A	CCDS12000.1																																																																																				0.453	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		27	28	1	0	1.17739e-12	0.005443	1.56672e-12	27	28				
OR4F17	81099	broad.mit.edu	37	19	110702	110702	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:110702G>T	ENST00000585993.1	+	2	163	c.24G>T	c.(22-24)ctG>ctT	p.L8L	OR4F17_ENST00000318050.3_Silent_p.L8L			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TCATTTTTCTGGGTCTCTCTG	0.393																																							uc002loc.1		NA																	0					0						c.(22-24)CTG>CTT		olfactory receptor, family 4, subfamily F,							257.0	245.0	249.0					19																	110702		2202	4298	6500	SO:0001819	synonymous_variant	81099				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:110702G>T	AC005605	CCDS32854.1	19p13.3	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15381	protein-coding gene	gene with protein product				OR4F19, OR4F11P, OR4F18			Standard	NM_001005240		Approved		uc002loc.1	Q8NGA8		ENST00000585993.1:c.24G>T	19.37:g.110702G>T						OR4F17_uc002lob.1_Silent_p.L8L	p.L8L	NM_001005240	NP_001005240	Q8NGA8	O4F17_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)	1	24	+		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	8			Extracellular (Potential).		B2RNE8	Silent	SNP	ENST00000585993.1	37	c.24G>T	CCDS32854.1																																																																																				0.393	OR4F17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451410.1			46	407	1	0	1.61004e-24	0.00361	2.51065e-24	46	407				
SLC25A23	79085	broad.mit.edu	37	19	6458287	6458287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:6458287C>A	ENST00000301454.4	-	2	311	c.205G>T	c.(205-207)Gag>Tag	p.E69*	SLC25A23_ENST00000334510.5_Nonsense_Mutation_p.E69*	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	69					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GAAAATTCCTCCAGGTCGAGC	0.587																																							uc002mex.1		NA																	0				ovary(1)|pancreas(1)	2						c.(205-207)GAG>TAG		solute carrier family 25, member 23							42.0	35.0	37.0					19																	6458287		2203	4300	6503	SO:0001587	stop_gained	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6458287C>A	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.205G>T	19.37:g.6458287C>A	ENSP00000301454:p.Glu69*					SLC25A23_uc002mev.2_RNA	p.E69*	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN			2	347	-			69			Mitochondrial intermembrane (Potential).		B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Nonsense_Mutation	SNP	ENST00000301454.4	37	c.205G>T	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	C	37	6.277590	0.97435	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000334510	.	.	.	4.72	4.72	0.59763	.	0.115763	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-26.6866	16.4344	0.83871	0.0:1.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000264088:E69X	E	-	1	0	SLC25A23	6409287	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.307000	0.65762	2.176000	0.68965	0.462000	0.41574	GAG		0.587	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		18	13	1	0	3.41278e-10	0.00499	4.27884e-10	18	13				
EMR1	2015	broad.mit.edu	37	19	6896442	6896442	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:6896442C>G	ENST00000312053.4	+	3	165	c.128C>G	c.(127-129)gCt>gGt	p.A43G	EMR1_ENST00000381407.5_Missense_Mutation_p.A43G|EMR1_ENST00000450315.3_Missense_Mutation_p.A43G|EMR1_ENST00000250572.8_Missense_Mutation_p.A43G|EMR1_ENST00000381404.4_Missense_Mutation_p.A43G|AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000601198.1_3'UTR	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	43	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTGTGCCCAGCTTATGCCACC	0.458																																							uc002mfw.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(127-129)GCT>GGT		egf-like module containing, mucin-like, hormone							199.0	174.0	182.0					19																	6896442		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6896442C>G	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.128C>G	19.37:g.6896442C>G	ENSP00000311545:p.Ala43Gly					EMR1_uc010dvc.2_Missense_Mutation_p.A43G|EMR1_uc010dvb.2_Missense_Mutation_p.A43G|EMR1_uc010xji.1_Missense_Mutation_p.A43G|EMR1_uc010xjj.1_Missense_Mutation_p.A43G	p.A43G	NM_001974	NP_001965	Q14246	EMR1_HUMAN			3	166	+	all_hematologic(4;0.166)		43			Extracellular (Potential).|EGF-like 1.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.128C>G	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	C	7.879	0.729864	0.15507	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03	3.91	0.3	0.15776	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.85656	0.5747	L	0.54863	1.705	0.09310	N	1	B;B;P;P;P	0.44986	0.0;0.007;0.814;0.518;0.847	B;B;B;B;B	0.39185	0.0;0.009;0.287;0.114;0.293	T	0.74765	-0.3554	9	0.24483	T	0.36	.	2.8974	0.05694	0.2196:0.5333:0.0:0.2471	.	43;43;43;43;43	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	G	43	ENSP00000311545:A43G;ENSP00000370811:A43G;ENSP00000250572:A43G;ENSP00000370814:A43G;ENSP00000405974:A43G	ENSP00000250572:A43G	A	+	2	0	EMR1	6847442	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.147000	0.16202	0.199000	0.20427	0.543000	0.68304	GCT		0.458	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			60	59	0	0	0	0.00361	0	60	59				
PNPLA6	10908	broad.mit.edu	37	19	7620629	7620629	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:7620629C>T	ENST00000221249.6	+	27	3390	c.2959C>T	c.(2959-2961)Cgg>Tgg	p.R987W	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R960W|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1025W|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1035W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R987W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1026	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CACGAAGCAGCGGGCCCGGGA	0.662																																							uc010xjq.1		NA																	0				ovary(3)	3						c.(3103-3105)CGG>TGG		neuropathy target esterase isoform b							30.0	36.0	34.0					19																	7620629		2202	4300	6502	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7620629C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2959C>T	19.37:g.7620629C>T	ENSP00000221249:p.Arg987Trp					PNPLA6_uc002mgq.1_Missense_Mutation_p.R987W|PNPLA6_uc010xjp.1_Missense_Mutation_p.R960W|PNPLA6_uc002mgr.1_Missense_Mutation_p.R987W|PNPLA6_uc002mgs.2_Missense_Mutation_p.R1025W|PNPLA6_uc002mgt.1_RNA	p.R1035W	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			26	3298	+			1026			Patatin.|Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3103C>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.333415	0.81801	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.04	2.98	0.34508	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.247239	0.39759	N	0.001267	D	0.88187	0.6369	M	0.88512	2.96	0.49389	D	0.999785	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.994;0.994;0.989	D	0.88906	0.3356	10	0.87932	D	0	.	10.5792	0.45246	0.2136:0.7864:0.0:0.0	.	1026;960;1025;987	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	W	987;960;1035;987	ENSP00000221249:R987W;ENSP00000443323:R960W;ENSP00000407509:R1035W;ENSP00000394348:R987W	ENSP00000221249:R987W	R	+	1	2	PNPLA6	7526629	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.931000	0.40134	0.999000	0.39023	0.555000	0.69702	CGG		0.662	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		20	37	0	0	0	0.003954	0	20	37				
PRAM1	84106	broad.mit.edu	37	19	8563455	8563455	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:8563455C>T	ENST00000423345.4	-	2	1757	c.1237G>A	c.(1237-1239)Gct>Act	p.A413T	PRAM1_ENST00000255612.3_Missense_Mutation_p.A413T			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	461	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGTGTCCCAGCCGCTCCAAAC	0.716																																							uc002mkd.2		NA																	0					0						c.(1237-1239)GCT>ACT		PML-RARA regulated adaptor molecule 1							13.0	16.0	15.0					19																	8563455		1868	4041	5909	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8563455C>T	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1237G>A	19.37:g.8563455C>T	ENSP00000408342:p.Ala413Thr					PRAM1_uc002mkc.2_Missense_Mutation_p.A413T	p.A413T	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN			2	1257	-			461			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.1237G>A	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	C	6.948	0.544666	0.13312	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.16324	2.35;2.35	2.49	-4.98	0.03019	.	1.459100	0.05107	N	0.488129	T	0.11965	0.0291	L	0.38175	1.15	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.001	T	0.34650	-0.9820	10	0.15066	T	0.55	.	8.7678	0.34713	0.0:0.6109:0.1581:0.231	.	413;461	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	T	413	ENSP00000255612:A413T;ENSP00000408342:A413T	ENSP00000255612:A413T	A	-	1	0	PRAM1	8469455	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.523000	0.02235	-1.976000	0.00996	-1.195000	0.01675	GCT		0.716	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		9	21	0	0	0	0.008291	0	9	21				
MUC16	94025	broad.mit.edu	37	19	9088385	9088385	+	Missense_Mutation	SNP	C	C	A	rs145606635	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:9088385C>A	ENST00000397910.4	-	1	3633	c.3430G>T	c.(3430-3432)Ggc>Tgc	p.G1144C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1144	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGCAGAGCCAGGATCAGGA	0.463													C|||	2	0.000399361	0.0	0.0	5008	,	,		23877	0.002		0.0	False		,,,				2504	0.0						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3430-3432)GGC>TGC		mucin 16							122.0	121.0	121.0					19																	9088385		2104	4231	6335	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088385C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3430G>T	19.37:g.9088385C>A	ENSP00000381008:p.Gly1144Cys						p.G1144C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3634	-			1144			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3430G>T	CCDS54212.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	c	2.208	-0.381268	0.05000	.	.	ENSG00000181143	ENST00000397910	T	0.03663	3.85	1.09	-0.00258	0.14029	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	.	.	.	D	0.71674	0.998	P	0.61132	0.884	T	0.41716	-0.9493	8	0.87932	D	0	.	3.339	0.07111	0.0:0.703:0.0:0.297	.	1144	B5ME49	.	C	1144	ENSP00000381008:G1144C	ENSP00000381008:G1144C	G	-	1	0	MUC16	8949385	0.000000	0.05858	0.001000	0.08648	0.218000	0.24690	-1.119000	0.03276	0.035000	0.15519	0.305000	0.20034	GGC		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		39	30	1	0	2.91434e-09	0.004878	3.56435e-09	39	30				
ZNF426	79088	broad.mit.edu	37	19	9639792	9639792	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:9639792C>A	ENST00000535489.1	-	6	1265	c.929G>T	c.(928-930)tGt>tTt	p.C310F	ZNF426_ENST00000593003.1_Missense_Mutation_p.C272F|ZNF426_ENST00000253115.2_Missense_Mutation_p.C310F			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACATTCCTTACATTCATATGG	0.413																																							uc002mlq.2		NA																	0				ovary(1)	1						c.(928-930)TGT>TTT		zinc finger protein 426							114.0	109.0	111.0					19																	9639792		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639792C>A	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.929G>T	19.37:g.9639792C>A	ENSP00000439017:p.Cys310Phe					ZNF426_uc010dws.2_Missense_Mutation_p.C272F	p.C310F	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN			8	1193	-			310			C2H2-type 4.		B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.929G>T	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208524	0.39003	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	D;D	0.85088	-1.94;-1.94	1.15	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93612	0.7960	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92534	0.6036	9	0.87932	D	0	.	8.1702	0.31249	0.0:1.0:0.0:0.0	.	297;310	Q59EH4;Q9BUY5	.;ZN426_HUMAN	F	297;310;310	ENSP00000253115:C310F;ENSP00000439017:C310F	ENSP00000253115:C310F	C	-	2	0	ZNF426	9500792	0.981000	0.34729	0.010000	0.14722	0.031000	0.12232	3.297000	0.51810	0.922000	0.37019	0.462000	0.41574	TGT		0.413	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		40	43	1	0	4.14481e-20	0.00623	6.2865e-20	40	43				
OR7A17	26333	broad.mit.edu	37	19	14991976	14991977	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:14991976_14991977GG>TT	ENST00000327462.2	-	1	287_288	c.191_192CC>AA	c.(190-192)tCC>tAA	p.S64*		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	64						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)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGGACAGGTTGGAGAGGAAGAA	0.5																																							uc010xob.1		NA																	0					0						c.(190-192)TCC>TAA		olfactory receptor, family 7, subfamily A,																																				SO:0001587	stop_gained	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991976_14991977GG>TT	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.191_192delinsTT	19.37:g.14991976_14991977delinsTT	ENSP00000328144:p.Ser64*						p.S64*	NM_030901	NP_112163	O14581	OR7AH_HUMAN			1	191_192	-	Ovarian(108;0.203)		64			Helical; Name=2; (Potential).		Q6IFQ6|Q96R98	Nonsense_Mutation	DNP	ENST00000327462.2	37	c.191_192CC>AA	CCDS12319.1																																																																																				0.500	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		33	38	0	0	0	0.004672	0	33	38				
NCAN	1463	broad.mit.edu	37	19	19337293	19337293	+	Splice_Site	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:19337293A>T	ENST00000252575.6	+	7	1171		c.e7-1		NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TTTCTCCCACAGCTCATCACC	0.557																																							uc002nlz.2		NA																	0				ovary(4)	4						c.e7-2		chondroitin sulfate proteoglycan 3 precursor							77.0	71.0	73.0					19																	19337293		2203	4300	6503	SO:0001630	splice_region_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337293A>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1073-1A>T	19.37:g.19337293A>T						NCAN_uc010ecc.1_5'Flank	p.A358_splice	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		7	1172	+								Q9UPK6	Splice_Site	SNP	ENST00000252575.6	37	c.1073_splice	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831031	0.50845	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	.	.	.	5.21	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9465	0.35762	0.812:0.188:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAN	19198293	0.994000	0.37717	0.696000	0.30242	0.890000	0.51754	3.453000	0.52978	0.792000	0.33850	0.454000	0.30748	.		0.557	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	Intron	38	49	0	0	0	0.005524	0	38	49				
SUGP1	57794	broad.mit.edu	37	19	19389578	19389578	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:19389578C>A	ENST00000247001.5	-	11	1903	c.1556G>T	c.(1555-1557)gGc>gTc	p.G519V		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	519					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CTTGCCCCGGCCCATCTTTGT	0.597																																							uc002nmh.2		NA																	0					0						c.(1555-1557)GGC>GTC		splicing factor 4							36.0	30.0	32.0					19																	19389578		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19389578C>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1556G>T	19.37:g.19389578C>A	ENSP00000247001:p.Gly519Val					SF4_uc002nmf.2_Missense_Mutation_p.G69V|SF4_uc002nmg.2_Missense_Mutation_p.G69V|SF4_uc002nmi.2_Missense_Mutation_p.G309V|SF4_uc002nmj.2_Missense_Mutation_p.G309V|SF4_uc002nme.2_Missense_Mutation_p.G69V	p.G519V	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			11	1558	-			519					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.1556G>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314922	0.81358	.	.	ENSG00000105705	ENST00000247001	T	0.24723	1.84	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.50145	-0.8862	10	0.72032	D	0.01	.	17.4482	0.87584	0.0:1.0:0.0:0.0	.	519	Q8IWZ8	SUGP1_HUMAN	V	519	ENSP00000247001:G519V	ENSP00000247001:G519V	G	-	2	0	SUGP1	19250578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.914000	0.69964	2.458000	0.83093	0.561000	0.74099	GGC		0.597	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		11	15	1	0	0.000978159	0.000978	0.00104073	11	15				
ZNF492	57615	broad.mit.edu	37	19	22817218	22817218	+	5'UTR	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:22817218C>A	ENST00000456783.2	+	0	93					NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492						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)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GCCCTGTGACCTGCAGGTATT	0.607																																							uc002nqw.3		NA																	0					0						c.(-153--149)ACCTG>ACATG		zinc finger protein 492																																				SO:0001623	5_prime_UTR_variant	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22817218C>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.-152C>A	19.37:g.22817218C>A								NM_020855	NP_065906	Q9P255	ZN492_HUMAN			1	93	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)						Q08EI7|Q08EI8	Translation_Start_Site	SNP	ENST00000456783.2	37	c.-151C>A	CCDS46032.1																																																																																				0.607	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		47	53	1	0	3.77016e-25	0.003214	5.93473e-25	47	53				
ZNF536	9745	broad.mit.edu	37	19	30934975	30934975	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:30934975A>G	ENST00000355537.3	+	2	653	c.506A>G	c.(505-507)cAg>cGg	p.Q169R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	169					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGGCGGCGCAGAAGGGGAAC	0.657																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(505-507)CAG>CGG		zinc finger protein 536							34.0	31.0	32.0					19																	30934975		2203	4299	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934975A>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.506A>G	19.37:g.30934975A>G	ENSP00000347730:p.Gln169Arg					ZNF536_uc010edd.1_Missense_Mutation_p.Q169R	p.Q169R	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	644	+	Esophageal squamous(110;0.0834)		169			C2H2-type 2.		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.506A>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761953	0.69763	.	.	ENSG00000198597	ENST00000355537	T	0.07216	3.21	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.12689	0.0308	N	0.04090	-0.28	0.54753	D	0.999987	D;D	0.76494	0.999;0.996	D;D	0.83275	0.996;0.996	T	0.47623	-0.9103	10	0.46703	T	0.11	-29.1469	15.9146	0.79503	1.0:0.0:0.0:0.0	.	169;169	A7E228;O15090	.;ZN536_HUMAN	R	169	ENSP00000347730:Q169R	ENSP00000347730:Q169R	Q	+	2	0	ZNF536	35626815	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.332000	0.96446	2.172000	0.68678	0.379000	0.24179	CAG		0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		22	15	0	0	0	0.001882	0	22	15				
NPHS1	4868	broad.mit.edu	37	19	36333029	36333029	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:36333029G>T	ENST00000378910.5	-	19	2659	c.2660C>A	c.(2659-2661)cCc>cAc	p.P887H	NPHS1_ENST00000353632.6_Missense_Mutation_p.P887H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	887	Ig-like C2-type 8.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCTCACCTGGGATCTTGGAG	0.612																																							uc002oby.2		NA																	0				ovary(4)|skin(1)	5						c.(2659-2661)CCC>CAC		nephrin precursor							18.0	16.0	17.0					19																	36333029		2192	4286	6478	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36333029G>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2660C>A	19.37:g.36333029G>T	ENSP00000368190:p.Pro887His					NPHS1_uc010eem.1_5'Flank	p.P887H	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		19	2660	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		887			Ig-like C2-type 8.|Extracellular (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2660C>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056575	0.76074	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.73047	-0.71;-0.71	4.78	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	L	0.45744	1.44	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.80686	-0.1272	10	0.59425	D	0.04	.	15.418	0.74987	0.0:0.0:1.0:0.0	.	887	O60500	NPHN_HUMAN	H	887	ENSP00000368190:P887H;ENSP00000343634:P887H	ENSP00000343634:P887H	P	-	2	0	NPHS1	41024869	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.340000	0.65958	2.519000	0.84933	0.558000	0.71614	CCC		0.612	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			15	3	1	0	6.72482e-11	0.003163	8.60433e-11	15	3				
CYP2S1	29785	broad.mit.edu	37	19	41704752	41704752	+	Missense_Mutation	SNP	G	G	A	rs372019122		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:41704752G>A	ENST00000310054.4	+	5	1009	c.793G>A	c.(793-795)Gca>Aca	p.A265T	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	265					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.A265T(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TTCGGGCCCCGCACGTGACCT	0.647																																							uc002opw.2		NA																	1	Substitution - Missense(1)		endometrium(1)	skin(1)	1						c.(793-795)GCA>ACA		cytochrome P450, family 2, subfamily S,			THR/ALA	0,4406		0,0,2203	62.0	59.0	60.0		793	3.7	0.0	19		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP2S1	NM_030622.6	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	265/505	41704752	1,13005	2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41704752G>A	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.793G>A	19.37:g.41704752G>A	ENSP00000308032:p.Ala265Thr					CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Intron	p.A265T	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN			5	848	+			265					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.793G>A	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	g	14.47	2.545121	0.45280	0.0	1.16E-4	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.67698	-0.28	4.75	3.7	0.42460	.	0.721584	0.11315	U	0.576638	T	0.48077	0.1480	N	0.14661	0.345	0.09310	N	0.999997	P	0.48407	0.91	B	0.40066	0.318	T	0.17776	-1.0358	10	0.26408	T	0.33	.	11.3405	0.49531	0.0:0.3564:0.6436:0.0	.	265	Q96SQ9	CP2S1_HUMAN	T	265	ENSP00000308032:A265T	ENSP00000301173:A265T	A	+	1	0	CYP2S1	46396592	0.164000	0.22935	0.009000	0.14445	0.006000	0.05464	1.881000	0.39638	1.193000	0.43086	0.461000	0.40582	GCA		0.647	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			5	50	0	0	0	0.001168	0	5	50				
TMEM91	641649	broad.mit.edu	37	19	41889658	41889658	+	Silent	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:41889658A>G	ENST00000392002.2	+	4	1059	c.399A>G	c.(397-399)gcA>gcG	p.A133A	TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000544232.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000413014.2_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000356385.4_3'UTR|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000447302.2_Intron	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	133					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						TCCAGGGGGCAGGGGCCGCCT	0.692																																							uc002oqk.3		NA																	0					0						c.(397-399)GCA>GCG		transmembrane protein 91 isoform a							25.0	31.0	29.0					19																	41889658		2051	4165	6216	SO:0001819	synonymous_variant	641649				response to biotic stimulus	integral to membrane		g.chr19:41889658A>G	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 6"""					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.399A>G	19.37:g.41889658A>G						CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_3'UTR|TMEM91_uc010ehq.2_Intron|TMEM91_uc002oql.2_3'UTR|TMEM91_uc010ehr.2_Intron|TMEM91_uc010ehs.2_Intron|TMEM91_uc010eht.2_Intron|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_3'UTR	p.A133A	NM_001098821	NP_001092291	Q6ZNR0	TMM91_HUMAN			4	750	+			133					C9J9D1|C9JZ62|C9K046|Q6P434	Silent	SNP	ENST00000392002.2	37	c.399A>G	CCDS42571.1																																																																																				0.692	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			5	36	0	0	0	0.004482	0	5	36				
ZNF284	342909	broad.mit.edu	37	19	44591017	44591017	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:44591017G>A	ENST00000421176.3	+	5	1602	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	462					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(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AATGTGGAAAGAGCTTCAGGT	0.433																																							uc002oyg.1		NA																	0					0						c.(1384-1386)AAG>AAA		zinc finger protein 284							70.0	74.0	73.0					19																	44591017		2197	4292	6489	SO:0001819	synonymous_variant	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44591017G>A	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1386G>A	19.37:g.44591017G>A						ZNF284_uc010ejd.2_RNA	p.K462K	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN			5	1602	+		Prostate(69;0.0435)	462			C2H2-type 12.		Q86WM1	Silent	SNP	ENST00000421176.3	37	c.1386G>A	CCDS46099.1																																																																																				0.433	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		33	32	0	0	0	0.002445	0	33	32				
CCDC61	729440	broad.mit.edu	37	19	46498409	46498409	+	5'Flank	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:46498409G>T	ENST00000595358.1	+	0	0				CCDC61_ENST00000263284.2_Missense_Mutation_p.G24V|CCDC61_ENST00000536603.1_5'Flank	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61							centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CCTCCCGCAGGGGGTAATAGG	0.602																																							uc002pdw.2		NA																	0				ovary(1)	1						c.(70-72)GGG>GTG		coiled-coil domain containing 61							12.0	12.0	12.0					19																	46498409		1858	4084	5942	SO:0001631	upstream_gene_variant	729440							g.chr19:46498409G>T		CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488		19.37:g.46498409G>T	Exception_encountered						p.G24V	NM_001080402	NP_001073871				OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)	1	71	+		all_neural(266;0.113)|Ovarian(192;0.127)						C8CAP4|Q9HDB6	Missense_Mutation	SNP	ENST00000595358.1	37	c.71G>T	CCDS46120.2	.	.	.	.	.	.	.	.	.	.	G	8.518	0.868149	0.17250	.	.	ENSG00000104983	ENST00000263284	.	.	.	3.85	1.71	0.24356	.	.	.	.	.	T	0.36026	0.0952	.	.	.	0.19300	N	0.99998	.	.	.	.	.	.	T	0.26052	-1.0114	5	0.45353	T	0.12	.	6.1266	0.20182	0.1046:0.1864:0.7089:0.0	.	.	.	.	V	24	.	ENSP00000263284:G24V	G	+	2	0	CCDC61	51190249	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.335000	0.19806	0.600000	0.29862	-2.091000	0.00372	GGG		0.602	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	NM_001080402		10	8	1	0	2.27111e-07	0.001368	2.66655e-07	10	8				
SULT2A1	6822	broad.mit.edu	37	19	48382314	48382314	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:48382314C>T	ENST00000222002.3	-	4	685	c.546G>A	c.(544-546)ctG>ctA	p.L182L		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	182					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	CCTCATAACTCAGTAACAGGA	0.463																																							uc002phr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(544-546)CTG>CTA		bile-salt sulfotransferase 2A1							202.0	198.0	200.0					19																	48382314		2203	4300	6503	SO:0001819	synonymous_variant	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48382314C>T	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.546G>A	19.37:g.48382314C>T							p.L182L	NM_003167	NP_003158	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	4	686	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	182						Silent	SNP	ENST00000222002.3	37	c.546G>A	CCDS12707.1																																																																																				0.463	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		39	110	0	0	0	0.00874	0	39	110				
HRC	3270	broad.mit.edu	37	19	49657521	49657521	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:49657521C>T	ENST00000252825.4	-	1	1160	c.974G>A	c.(973-975)aGa>aAa	p.R325K	HRC_ENST00000595625.1_Missense_Mutation_p.R325K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	325	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCTTCCTTTCTGTGGTCTTG	0.542																																					Melanoma(37;75 1097 24567 25669 30645)	Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NA																	0				ovary(1)	1						c.(973-975)AGA>AAA		histidine rich calcium binding protein							216.0	161.0	180.0					19																	49657521		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657521C>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.974G>A	19.37:g.49657521C>T	ENSP00000252825:p.Arg325Lys						p.R325K	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1161	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	325			4 X tandem repeats, acidic.|2-6.|6 X approximate tandem repeats.		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.974G>A	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	0.504	-0.869453	0.02570	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.28069	1.63	3.39	1.0	0.19881	.	.	.	.	.	T	0.18635	0.0447	L	0.39898	1.24	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.35301	-0.9794	9	0.07175	T	0.84	-0.5072	5.11	0.14804	0.0:0.5448:0.0:0.4552	.	325	P23327	SRCH_HUMAN	K	325;24;295	ENSP00000252825:R325K	ENSP00000252825:R325K	R	-	2	0	HRC	54349333	0.000000	0.05858	0.001000	0.08648	0.185000	0.23345	0.192000	0.17096	0.403000	0.25479	0.462000	0.41574	AGA		0.542	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		10	33	0	0	0	0.006214	0	10	33				
FAM71E1	112703	broad.mit.edu	37	19	50979642	50979642	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:50979642C>A	ENST00000600100.1	-	1	368	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	EMC10_ENST00000598585.1_5'Flank|EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000376918.3_5'Flank|FAM71E1_ENST00000595790.1_Missense_Mutation_p.G2W			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	2										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		AGGGGCGGCCCCATCCTGCTG	0.692																																							uc002psh.2		NA																	0				breast(1)	1						c.(4-6)GGG>TGG		hypothetical protein LOC112703							18.0	20.0	19.0					19																	50979642		2191	4267	6458	SO:0001583	missense	112703							g.chr19:50979642C>A		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.4G>T	19.37:g.50979642C>A	ENSP00000472421:p.Gly2Trp					FAM71E1_uc002psg.2_Missense_Mutation_p.G2W|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	p.G2W	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	1	362	-		all_neural(266;0.131)	2					Q96EJ5|Q9BSM9	Missense_Mutation	SNP	ENST00000600100.1	37	c.4G>T		.	.	.	.	.	.	.	.	.	.	C	12.14	1.849657	0.32699	.	.	ENSG00000142530	ENST00000391816;ENST00000270620	T;T	0.16324	2.39;2.35	3.3	-6.29	0.02013	.	.	.	.	.	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	P;P	0.43392	0.705;0.805	B;B	0.36885	0.118;0.235	T	0.25012	-1.0144	9	0.87932	D	0	.	0.144	0.00086	0.3041:0.2171:0.1505:0.3283	.	2;2	Q6IPT2;Q6IPT2-2	F71E1_HUMAN;.	W	2	ENSP00000375692:G2W;ENSP00000270620:G2W	ENSP00000270620:G2W	G	-	1	0	FAM71E1	55671454	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.433000	0.06948	-0.866000	0.04068	-0.444000	0.05651	GGG		0.692	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			14	18	1	0	6.72482e-11	0.003163	8.60433e-11	14	18				
SIGLEC10	89790	broad.mit.edu	37	19	51920599	51920599	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:51920599G>T	ENST00000339313.5	-	2	274	c.158C>A	c.(157-159)tCt>tAt	p.S53Y	SIGLEC10_ENST00000439889.2_Missense_Mutation_p.S53Y|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.S53Y|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.S53Y|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.S53Y|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.S53Y|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.S53Y|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.S53Y|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.S53Y|CTD-2616J11.3_ENST00000532473.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	53	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGCTGGGGTAGACCCTGTCCA	0.567																																							uc002pwo.2		NA																	0				skin(1)	1						c.(157-159)TCT>TAT		sialic acid binding Ig-like lectin 10 precursor							64.0	57.0	59.0					19																	51920599		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51920599G>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.158C>A	19.37:g.51920599G>T	ENSP00000345243:p.Ser53Tyr					SIGLEC10_uc002pwp.2_Missense_Mutation_p.S53Y|SIGLEC10_uc002pwq.2_Missense_Mutation_p.S53Y|SIGLEC10_uc002pwr.2_Missense_Mutation_p.S53Y|SIGLEC10_uc010ycy.1_Missense_Mutation_p.S53Y|SIGLEC10_uc010ycz.1_Missense_Mutation_p.S53Y|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Missense_Mutation_p.S37Y	p.S53Y	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	2	774	-		all_neural(266;0.0199)	53			Extracellular (Potential).|Ig-like V-type.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.158C>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	16.57	3.160729	0.57368	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000530476	T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.06	-10.1	0.00402	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	4.905440	0.00166	N	0.000002	T	0.46132	0.1377	M	0.87547	2.89	0.09310	N	1	D;D;P;D;D;P;B	0.69078	0.997;0.995;0.947;0.994;0.997;0.749;0.42	D;D;P;D;D;B;B	0.75484	0.961;0.986;0.625;0.935;0.95;0.288;0.324	T	0.66586	-0.5886	10	0.66056	D	0.02	.	2.6642	0.05035	0.1397:0.1926:0.1572:0.5105	.	53;53;53;53;53;53;53	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	Y	53;53;53;53;53;53;53;53;53;20	ENSP00000342389:S53Y;ENSP00000396742:S53Y;ENSP00000395475:S53Y;ENSP00000348646:S53Y;ENSP00000408387:S53Y;ENSP00000431444:S53Y;ENSP00000389132:S53Y;ENSP00000414324:S53Y;ENSP00000345243:S53Y;ENSP00000433838:S20Y	ENSP00000345243:S53Y	S	-	2	0	SIGLEC10	56612411	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-1.020000	0.03618	-1.873000	0.01135	0.313000	0.20887	TCT		0.567	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		25	25	1	0	7.92952e-12	0.003954	1.03582e-11	25	25				
SIGLEC12	89858	broad.mit.edu	37	19	52003360	52003360	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:52003360G>T	ENST00000291707.3	-	2	677	c.622C>A	c.(622-624)Cca>Aca	p.P208T	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P90T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	208	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTTCCACTTGGGGTGTTTGTG	0.537																																							uc002pwx.1		NA																	0				ovary(3)|skin(2)	5						c.(622-624)CCA>ACA		sialic acid binding immunoglobulin-like							145.0	129.0	134.0					19																	52003360		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52003360G>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.622C>A	19.37:g.52003360G>T	ENSP00000291707:p.Pro208Thr					SIGLEC12_uc002pww.1_Missense_Mutation_p.P90T|SIGLEC12_uc010eoy.1_Intron	p.P208T	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	2	678	-		all_neural(266;0.0199)	208			Ig-like V-type 2.|Extracellular (Potential).		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.622C>A	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	5.518	0.280480	0.10458	.	.	ENSG00000254521	ENST00000291707	T	0.45668	0.89	0.735	0.735	0.18300	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.202519	0.24642	U	0.036790	T	0.58380	0.2118	M	0.88979	2.995	0.09310	N	1	D;P	0.61080	0.989;0.856	P;P	0.60473	0.875;0.666	T	0.47686	-0.9098	10	0.66056	D	0.02	.	4.8255	0.13414	0.0:0.0:1.0:0.0	.	208;90	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	T	208	ENSP00000291707:P208T	ENSP00000291707:P208T	P	-	1	0	SIGLEC12	56695172	0.000000	0.05858	0.045000	0.18777	0.013000	0.08279	0.374000	0.20501	0.700000	0.31782	0.399000	0.26434	CCA		0.537	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		46	58	1	0	3.05275e-18	0.003214	4.48035e-18	46	58				
ZNF480	147657	broad.mit.edu	37	19	52817532	52817532	+	Splice_Site	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:52817532G>T	ENST00000595962.1	+	3	265	c.199G>T	c.(199-201)Gga>Tga	p.G67*	ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000334564.7_Splice_Site_p.G67W|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GGTCTCCCTGGGTGAGGATCA	0.527																																							uc010ydl.1		NA																	0				large_intestine(1)	1						c.(199-201)GGA>TGA		zinc finger protein 480							101.0	95.0	97.0					19																	52817532		2203	4300	6503	SO:0001630	splice_region_variant	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52817532G>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.199+1G>T	19.37:g.52817532G>T						ZNF480_uc002pyv.2_Intron|ZNF480_uc010ydm.1_Missense_Mutation_p.G67W|ZNF480_uc010epn.2_Intron|uc002pyw.1_Intron	p.G67*	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	3	269	+			67			KRAB.		Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	ENST00000595962.1	37	c.199G>T	CCDS12850.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.77|12.77	2.037953|2.037953	0.35989|0.35989	.|.	.|.	ENSG00000198464|ENSG00000198464	ENST00000334564|ENST00000354515;ENST00000468240	T|.	0.03004|.	4.08|.	2.04|2.04	2.04|2.04	0.26737|0.26737	.|.	.|.	.|.	.|.	.|.	T|.	0.44746|.	0.1308|.	.|.	.|.	.|.	0.25470|0.25470	N|N	0.987832|0.987832	D|.	0.71674|.	0.998|.	P|.	0.58331|.	0.837|.	T|.	0.39781|.	-0.9597|.	8|.	0.87932|0.87932	D|D	0|0	.|.	9.678|9.678	0.40052|0.40052	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	67|.	F8WEZ9|.	.|.	W|X	67|89;67	ENSP00000334164:G67W|.	ENSP00000334164:G67W|ENSP00000346510:G89X	G|G	+|+	1|1	0|0	ZNF480|ZNF480	57509344|57509344	1.000000|1.000000	0.71417|0.71417	0.598000|0.598000	0.28837|0.28837	0.056000|0.056000	0.15407|0.15407	2.991000|2.991000	0.49409|0.49409	1.112000|1.112000	0.41740|0.41740	0.508000|0.508000	0.49915|0.49915	GGG|GGA		0.527	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684	Nonsense_Mutation	41	50	1	0	2.35958e-20	0.009718	3.58973e-20	41	50				
NLRP7	199713	broad.mit.edu	37	19	55452299	55452299	+	Splice_Site	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:55452299C>G	ENST00000590030.1	-	2	392	c.352G>C	c.(352-354)Ggt>Cgt	p.G118R	NLRP7_ENST00000446217.1_Splice_Site_p.G146R|NLRP7_ENST00000592784.1_Splice_Site_p.G118R|NLRP7_ENST00000340844.2_Splice_Site_p.G118R|NLRP7_ENST00000448121.2_Splice_Site_p.G118R|NLRP7_ENST00000588756.1_Splice_Site_p.G118R|NLRP7_ENST00000328092.5_Splice_Site_p.G118R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	118							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ATTTACCCACCTGGCTTTGCT	0.423																																							uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(352-354)GGT>CGT		NACHT, leucine rich repeat and PYD containing 7							227.0	177.0	194.0					19																	55452299		2203	4300	6503	SO:0001630	splice_region_variant	199713						ATP binding	g.chr19:55452299C>G	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.352+1G>C	19.37:g.55452299C>G						NLRP7_uc002qig.3_Missense_Mutation_p.G118R|NLRP7_uc002qii.3_Missense_Mutation_p.G118R|NLRP7_uc010esk.2_Missense_Mutation_p.G118R|NLRP7_uc010esl.2_Missense_Mutation_p.G146R	p.G118R	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	3	428	-			118					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.352G>C	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112780	0.20795	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.73575	-0.69;-0.69;-0.76;-0.74	1.87	1.87	0.25490	.	.	.	.	.	T	0.47783	0.1464	N	0.08118	0	0.09310	N	1	B;P;P;B	0.36086	0.139;0.536;0.536;0.113	B;B;B;B	0.30401	0.026;0.115;0.115;0.07	T	0.29610	-1.0006	8	.	.	.	.	7.2607	0.26201	0.0:1.0:0.0:0.0	.	146;118;118;118	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	R	118;118;118;146	ENSP00000329568:G118R;ENSP00000409137:G118R;ENSP00000339491:G118R;ENSP00000414273:G146R	.	G	-	1	0	NLRP7	60144111	0.018000	0.18449	0.032000	0.17829	0.228000	0.25075	1.285000	0.33261	1.379000	0.46325	0.407000	0.27541	GGT		0.423	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	Missense_Mutation	46	48	0	0	0	0.00361	0	46	48				
NLRP13	126204	broad.mit.edu	37	19	56424435	56424435	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:56424435G>T	ENST00000342929.3	-	5	747	c.748C>A	c.(748-750)Ctg>Atg	p.L250M	NLRP13_ENST00000588751.1_Missense_Mutation_p.L250M	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	250	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCCCAGTGCAGCATAGCCTGC	0.502																																							uc010ygg.1		NA																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(748-750)CTG>ATG		NACHT, leucine rich repeat and PYD containing							100.0	101.0	100.0					19																	56424435		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424435G>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.748C>A	19.37:g.56424435G>T	ENSP00000343891:p.Leu250Met						p.L250M	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	773	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	250			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.748C>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352517	0.41700	.	.	ENSG00000173572	ENST00000342929	T	0.81163	-1.46	2.81	-1.42	0.08913	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.84524	0.5491	M	0.66439	2.03	0.09310	N	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.71768	-0.4493	9	0.59425	D	0.04	.	4.5455	0.12079	0.1481:0.4537:0.3982:0.0	.	250	Q86W25	NAL13_HUMAN	M	250	ENSP00000343891:L250M	ENSP00000343891:L250M	L	-	1	2	NLRP13	61116247	0.027000	0.19231	0.507000	0.27676	0.168000	0.22595	-0.444000	0.06854	0.055000	0.16094	0.591000	0.81541	CTG		0.502	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		31	73	1	0	5.45727e-16	0.008361	7.69259e-16	31	73				
ZIM3	114026	broad.mit.edu	37	19	57646670	57646670	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:57646670G>T	ENST00000269834.1	-	5	1420	c.1035C>A	c.(1033-1035)tcC>tcA	p.S345S	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGATTTCTGGGAAAAGGCCT	0.398																																							uc002qnz.1		NA																	0				pancreas(1)|skin(1)	2						c.(1033-1035)TCC>TCA		zinc finger, imprinted 3							169.0	165.0	166.0					19																	57646670		2203	4300	6503	SO:0001819	synonymous_variant	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646670G>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1035C>A	19.37:g.57646670G>T							p.S345S	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1421	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	345			C2H2-type 7.		Q14CA6	Silent	SNP	ENST00000269834.1	37	c.1035C>A	CCDS33125.1																																																																																				0.398	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			65	56	1	0	6.25564e-26	0.00361	9.94129e-26	65	56				
ZNF211	10520	broad.mit.edu	37	19	58152396	58152396	+	Missense_Mutation	SNP	C	C	T	rs200136602	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:58152396C>T	ENST00000347302.3	+	3	721	c.542C>T	c.(541-543)tCg>tTg	p.S181L	ZNF211_ENST00000391703.3_Missense_Mutation_p.S120L|ZNF211_ENST00000541801.1_Missense_Mutation_p.S172L|ZNF211_ENST00000254182.7_Missense_Mutation_p.S172L|ZNF211_ENST00000420680.1_Missense_Mutation_p.S185L|ZNF211_ENST00000240731.4_Missense_Mutation_p.S194L|ZNF211_ENST00000299871.5_Missense_Mutation_p.S246L|ZNF211_ENST00000544273.1_Missense_Mutation_p.S193L	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCCATGTGTCGGAGAAACCC	0.488													C|||	11	0.00219649	0.0	0.0	5008	,	,		21994	0.0		0.0	False		,,,				2504	0.0112						uc002qpq.2		NA																	0				ovary(2)	2						c.(541-543)TCG>TTG		zinc finger protein 211 isoform 2							66.0	64.0	64.0					19																	58152396		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152396C>T	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.542C>T	19.37:g.58152396C>T	ENSP00000339562:p.Ser181Leu					ZNF211_uc010yhb.1_Missense_Mutation_p.S185L|ZNF211_uc002qpp.2_Missense_Mutation_p.S194L|ZNF211_uc002qpr.2_Missense_Mutation_p.S245L|ZNF211_uc002qps.2_Missense_Mutation_p.S246L|ZNF211_uc002qpt.2_Missense_Mutation_p.S193L|ZNF211_uc010yhc.1_Missense_Mutation_p.S193L|ZNF211_uc010yhd.1_Missense_Mutation_p.S120L|ZNF211_uc010yhe.1_Missense_Mutation_p.S172L	p.S181L	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	722	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	181					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.542C>T	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	c	8.043	0.764212	0.15914	.	.	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4	2.97	-0.502	0.12004	.	.	.	.	.	T	0.23133	0.0559	L	0.39085	1.19	0.09310	N	1	B;B;B;D;B;B	0.89917	0.049;0.049;0.108;1.0;0.029;0.029	B;B;B;D;B;B	0.72338	0.008;0.008;0.014;0.977;0.003;0.003	T	0.13872	-1.0493	9	0.40728	T	0.16	.	3.3916	0.07291	0.0:0.3757:0.2074:0.417	.	185;193;246;172;181;194	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	L	185;181;172;120;172;246;193;194	ENSP00000399193:S185L;ENSP00000339562:S181L;ENSP00000254182:S172L;ENSP00000375584:S120L;ENSP00000442601:S172L;ENSP00000299871:S246L;ENSP00000441386:S193L;ENSP00000240731:S194L	ENSP00000240731:S194L	S	+	2	0	ZNF211	62844208	0.002000	0.14202	0.033000	0.17914	0.005000	0.04900	0.661000	0.25023	-0.014000	0.14175	-0.899000	0.02877	TCG		0.488	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			3	52	0	0	0	0.004672	0	3	52				
SOX11	6664	broad.mit.edu	37	2	5833565	5833565	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:5833565C>A	ENST00000322002.3	+	1	767	c.712C>A	c.(712-714)Cag>Aag	p.Q238K	AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	238					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GCTGCAGCTGCAGATCAAACA	0.677																																							uc002qyj.2		NA																	0				central_nervous_system(3)	3						c.(712-714)CAG>AAG		SRY-box 11							12.0	11.0	12.0					2																	5833565		2096	4182	6278	SO:0001583	missense	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833565C>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.712C>A	2.37:g.5833565C>A	ENSP00000322568:p.Gln238Lys						p.Q238K	NM_003108	NP_003099	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	767	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		238					Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	c.712C>A	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699671	0.48307	.	.	ENSG00000176887	ENST00000322002	D	0.97598	-4.45	4.1	2.17	0.27698	.	1.551120	0.05080	N	0.483248	D	0.91496	0.7315	N	0.08118	0	0.22292	N	0.999229	B	0.02656	0.0	B	0.04013	0.001	T	0.78934	-0.2008	10	0.07482	T	0.82	.	12.4326	0.55583	0.2975:0.7025:0.0:0.0	.	238	P35716	SOX11_HUMAN	K	238	ENSP00000322568:Q238K	ENSP00000322568:Q238K	Q	+	1	0	SOX11	5751016	1.000000	0.71417	0.926000	0.36857	0.986000	0.74619	2.867000	0.48428	0.249000	0.21456	0.478000	0.44815	CAG		0.677	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		7	3	1	0	0.00307968	0.00308	0.00319493	7	3				
APOB	338	broad.mit.edu	37	2	21225799	21225799	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:21225799C>A	ENST00000233242.1	-	29	12622	c.12495G>T	c.(12493-12495)caG>caT	p.Q4165H	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4165					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTGAGTCCCTGGAAACTGG	0.473																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(12493-12495)CAG>CAT		apolipoprotein B precursor	Atorvastatin(DB01076)						97.0	93.0	94.0					2																	21225799		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21225799C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12495G>T	2.37:g.21225799C>A	ENSP00000233242:p.Gln4165His						p.Q4165H	NM_000384	NP_000375	P04114	APOB_HUMAN			29	12623	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4165					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.12495G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952730	0.34471	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01025	5.43	5.9	4.05	0.47172	.	0.111634	0.39909	N	0.001235	T	0.01061	0.0035	L	0.47190	1.495	0.22096	N	0.999364	B	0.21905	0.062	B	0.18871	0.023	T	0.49447	-0.8939	10	0.87932	D	0	.	3.0488	0.06162	0.3117:0.4417:0.1513:0.0952	.	4165	P04114	APOB_HUMAN	H	4165	ENSP00000233242:Q4165H	ENSP00000233242:Q4165H	Q	-	3	2	APOB	21079304	0.034000	0.19679	0.058000	0.19502	0.008000	0.06430	0.457000	0.21875	0.785000	0.33685	0.591000	0.81541	CAG		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			16	91	1	0	1.15088e-07	0.004007	1.35445e-07	16	91				
CAPN13	92291	broad.mit.edu	37	2	30993187	30993187	+	Silent	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:30993187G>C	ENST00000295055.8	-	5	692	c.516C>G	c.(514-516)gcC>gcG	p.A172A	CAPN13_ENST00000534090.2_Silent_p.A172A|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	172	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ACTTGGCATAGGCCTTCTCCA	0.562																																							uc002rnn.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(514-516)GCC>GCG		calpain 13							156.0	165.0	162.0					2																	30993187		2138	4262	6400	SO:0001819	synonymous_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30993187G>C		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.516C>G	2.37:g.30993187G>C						CAPN13_uc002rnp.1_Silent_p.A172A	p.A172A	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			5	692	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		172			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	c.516C>G	CCDS46252.1																																																																																				0.562	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		5	46	0	0	0	0.001168	0	5	46				
NLRC4	58484	broad.mit.edu	37	2	32476123	32476123	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:32476123G>T	ENST00000404025.2	-	5	1298	c.810C>A	c.(808-810)cgC>cgA	p.R270R	NLRC4_ENST00000402280.1_Silent_p.R270R|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Silent_p.R270R			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	270	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGTTCTTGAAGCGGTGGTTTT	0.512																																							uc002roi.2		NA																	0				ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(808-810)CGC>CGA		caspase recruitment domain protein 12							134.0	112.0	120.0					2																	32476123		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476123G>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.810C>A	2.37:g.32476123G>T						NLRC4_uc002roj.1_Silent_p.R270R|NLRC4_uc010ezt.1_Intron	p.R270R	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	1056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		270			LRR 2.|NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.810C>A	CCDS33174.1																																																																																				0.512	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		13	107	1	0	0.00185496	0.001855	0.00195692	13	107				
DHX57	90957	broad.mit.edu	37	2	39050281	39050281	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:39050281C>T	ENST00000295373.6	-	17	3271	c.3145G>A	c.(3145-3147)Gat>Aat	p.D1049N		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1049							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AATCTTTCATCTGGAGTTAAT	0.458																																					Melanoma(191;1090 2095 4375 23729 47341)	Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(3145-3147)GAT>AAT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							112.0	105.0	108.0					2																	39050281		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39050281C>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3145G>A	2.37:g.39050281C>T	ENSP00000295373:p.Asp1049Asn					DHX57_uc002rrd.3_Missense_Mutation_p.D433N|DHX57_uc002rre.2_Missense_Mutation_p.D482N	p.D1049N	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			17	3244	-		all_hematologic(82;0.248)	1049					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.3145G>A	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.83|16.83	3.230617|3.230617	0.58777|0.58777	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.27256|.	1.68|.	5.75|5.75	4.87|4.87	0.63330|0.63330	Helicase-associated domain (2);|.	0.000000|.	0.53938|.	D|.	0.000048|.	T|T	0.48409|0.48409	0.1498|0.1498	N|N	0.16903|0.16903	0.455|0.455	0.53005|0.53005	D|D	0.999964|0.999964	B;B|.	0.24186|.	0.024;0.099|.	B;B|.	0.24848|.	0.041;0.056|.	T|T	0.38845|0.38845	-0.9642|-0.9642	10|5	0.10377|.	T|.	0.69|.	.|.	14.1976|14.1976	0.65682|0.65682	0.0:0.9289:0.0:0.0711|0.0:0.9289:0.0:0.0711	.|.	1049;441|.	Q6P158;Q59G60|.	DHX57_HUMAN;.|.	N|K	1049|372	ENSP00000295373:D1049N|.	ENSP00000295373:D1049N|.	D|R	-|-	1|2	0|0	DHX57|DHX57	38903785|38903785	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	3.990000|3.990000	0.56965|0.56965	2.708000|2.708000	0.92522|0.92522	0.650000|0.650000	0.86243|0.86243	GAT|AGA		0.458	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		15	61	0	0	0	0.003163	0	15	61				
SLC8A1	6546	broad.mit.edu	37	2	40656780	40656780	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:40656780G>A	ENST00000403092.1	-	2	674	c.641C>T	c.(640-642)gCc>gTc	p.A214V	SLC8A1_ENST00000332839.4_Missense_Mutation_p.A214V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A214V|SLC8A1_ENST00000406785.2_Missense_Mutation_p.A214V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A214V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A214V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A214V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A214V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A214V|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A214V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	214					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCAGGTGTAGGCAAAGATGCT	0.443																																							uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(640-642)GCC>GTC		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						64.0	66.0	65.0					2																	40656780		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656780G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.641C>T	2.37:g.40656780G>A	ENSP00000384763:p.Ala214Val					SLC8A1_uc002rry.2_Missense_Mutation_p.A214V|SLC8A1_uc002rrz.2_Missense_Mutation_p.A214V|SLC8A1_uc002rsa.2_Missense_Mutation_p.A214V|SLC8A1_uc002rsd.3_Missense_Mutation_p.A214V|SLC8A1_uc002rsb.1_Missense_Mutation_p.A214V|SLC8A1_uc010fan.1_Missense_Mutation_p.A214V|SLC8A1_uc002rsc.1_Missense_Mutation_p.A214V	p.A214V	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	665	-			214			Helical; (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.641C>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152588	0.78001	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.83692	2.655	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.995;1.0;1.0;1.0	D	0.83639	0.0149	10	0.87932	D	0	.	17.1057	0.86662	0.0:0.0:1.0:0.0	.	214;214;214;214;214	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	V	214	ENSP00000383886:A214V;ENSP00000440727:A214V;ENSP00000384763:A214V;ENSP00000385678:A214V;ENSP00000385188:A214V;ENSP00000385535:A214V;ENSP00000332931:A214V;ENSP00000384908:A214V;ENSP00000385811:A214V;ENSP00000443515:A214V	ENSP00000332931:A214V	A	-	2	0	SLC8A1	40510284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.669000	0.98622	2.648000	0.89879	0.563000	0.77884	GCC		0.443	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		12	45	0	0	0	0.000978	0	12	45				
FSHR	2492	broad.mit.edu	37	2	49210072	49210072	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:49210072C>G	ENST00000406846.2	-	8	766	c.647G>C	c.(646-648)gGa>gCa	p.G216A	FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.G216A|FSHR_ENST00000304421.4_Missense_Mutation_p.G190A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	216					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCCAGAGGCTCCGTGGAAAAC	0.428									Gonadal Dysgenesis, 46 XX																														uc002rww.2		NA																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(646-648)GGA>GCA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						97.0	94.0	95.0					2																	49210072		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49210072C>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.647G>C	2.37:g.49210072C>G	ENSP00000384708:p.Gly216Ala					FSHR_uc002rwx.2_Missense_Mutation_p.G216A|FSHR_uc010fbn.2_Missense_Mutation_p.G190A	p.G216A	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		8	721	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	216			LRR 7.|Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.647G>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610600	0.66558	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;D;T;D	0.84442	0.2;-1.85;0.2;-1.85	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	D	0.95488	0.8566	9	.	.	.	.	16.4362	0.83875	0.0:1.0:0.0:0.0	.	190;216;216	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	A	216;216;190;216	ENSP00000384708:G216A;ENSP00000333908:G216A;ENSP00000306780:G190A;ENSP00000415504:G216A	.	G	-	2	0	FSHR	49063576	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.360000	0.66086	2.806000	0.96561	0.655000	0.94253	GGA		0.428	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			21	31	0	0	0	0.002299	0	21	31				
CNGA3	1261	broad.mit.edu	37	2	99013344	99013344	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:99013344A>T	ENST00000272602.2	+	7	1750	c.1711A>T	c.(1711-1713)Att>Ttt	p.I571F	CNGA3_ENST00000436404.2_Missense_Mutation_p.I553F|CNGA3_ENST00000409937.1_Missense_Mutation_p.I575F|CNGA3_ENST00000393504.1_Missense_Mutation_p.I571F			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	571					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CATCCGCAGCATTGGCTACTC	0.587																																							uc002syt.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1711-1713)ATT>TTT		cyclic nucleotide gated channel alpha 3 isoform							110.0	106.0	107.0					2																	99013344		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013344A>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1711A>T	2.37:g.99013344A>T	ENSP00000272602:p.Ile571Phe					CNGA3_uc002syu.2_Missense_Mutation_p.I553F|CNGA3_uc010fij.2_Missense_Mutation_p.I575F	p.I571F	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	2128	+			571			cGMP.		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1711A>T	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.737939	0.49045	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	5.42	3.0	0.34707	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.050217	0.85682	D	0.000000	D	0.95639	0.8582	M	0.88570	2.965	0.52501	D	0.999955	D;D;P	0.58970	0.965;0.984;0.844	P;D;P	0.67103	0.842;0.949;0.577	D	0.93864	0.7156	10	0.31617	T	0.26	.	11.7995	0.52118	0.7218:0.2782:0.0:0.0	.	575;553;571	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	F	571;553;571;575	ENSP00000377140:I571F;ENSP00000410070:I553F;ENSP00000272602:I571F;ENSP00000386761:I575F	ENSP00000272602:I571F	I	+	1	0	CNGA3	98379776	0.876000	0.30132	0.932000	0.37286	0.529000	0.34654	0.356000	0.20181	0.475000	0.27415	0.460000	0.39030	ATT		0.587	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		14	119	0	0	0	0.003163	0	14	119				
LOC150776	150776	broad.mit.edu	37	2	132277212	132277212	+	RNA	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:132277212C>T	ENST00000438378.2	+	0	2281					NR_026922.1																						AGAACGGACTCATCCTTACGC	0.632																																							uc002tsz.3		NA																	0					0						c.(220-222)CTC>CTT		Homo sapiens cDNA FLJ41352 fis, clone BRAWH2014645.																																						150776							g.chr2:132277212C>T																													2.37:g.132277212C>T						LOC150776_uc002tsy.3_RNA	p.L74L							2	669	+									Silent	SNP	ENST00000438378.2	37	c.222C>T																																																																																					0.632	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			11	25	0	0	0	0.008291	0	11	25				
CCDC74A	90557	broad.mit.edu	37	2	132290207	132290207	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:132290207G>T	ENST00000295171.6	+	5	867	c.729G>T	c.(727-729)ggG>ggT	p.G243G	CCDC74A_ENST00000409856.3_Silent_p.G177G|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	243										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCTGTATGGGGAACAGCCAGC	0.612																																							uc002tta.2		NA																	0				skin(1)	1						c.(727-729)GGG>GGT		coiled-coil domain containing 74A							96.0	103.0	100.0					2																	132290207		2203	4300	6503	SO:0001819	synonymous_variant	90557							g.chr2:132290207G>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.729G>T	2.37:g.132290207G>T						CCDC74A_uc002ttb.2_Silent_p.G177G	p.G243G	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			5	781	+			243					Q6P4I5	Silent	SNP	ENST00000295171.6	37	c.729G>T	CCDS2167.1																																																																																				0.612	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		44	76	1	0	1.15183e-24	0.009718	1.80743e-24	44	76				
RAB3GAP1	22930	broad.mit.edu	37	2	135890497	135890497	+	Silent	SNP	A	A	T	rs375809703		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:135890497A>T	ENST00000264158.8	+	14	1312	c.1269A>T	c.(1267-1269)ccA>ccT	p.P423P	RAB3GAP1_ENST00000442034.1_Silent_p.P423P|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Silent_p.P379P	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	423					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CTGAGAAACCATTAGATGGAA	0.313																																							uc002tuj.2		NA																	0				ovary(1)|skin(1)	2						c.(1267-1269)CCA>CCT		RAB3 GTPase-activating protein							114.0	120.0	118.0					2																	135890497		2203	4297	6500	SO:0001819	synonymous_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135890497A>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1269A>T	2.37:g.135890497A>T						RAB3GAP1_uc010fnf.2_Silent_p.P423P|RAB3GAP1_uc010fng.2_Silent_p.P248P|RAB3GAP1_uc010fnh.1_RNA	p.P423P	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	14	1294	+			423					A6H8Z3|C9J837|Q659F5|Q8TBB4	Silent	SNP	ENST00000264158.8	37	c.1269A>T	CCDS33294.1																																																																																				0.313	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		22	25	0	0	0	0.003954	0	22	25				
ZEB2	9839	broad.mit.edu	37	2	145161562	145161562	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:145161562C>A	ENST00000558170.2	-	6	1912	c.728G>T	c.(727-729)tGc>tTc	p.C243F	ZEB2_ENST00000409487.3_Missense_Mutation_p.C243F|ZEB2_ENST00000303660.4_Missense_Mutation_p.C243F|ZEB2_ENST00000539609.3_Missense_Mutation_p.C219F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	243					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)			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)		ACAGAGAGGGCAGGAAAAGTT	0.557																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(727-729)TGC>TTC		zinc finger homeobox 1b							250.0	240.0	243.0					2																	145161562		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.chr2:145161562C>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.728G>T	2.37:g.145161562C>A	ENSP00000454157:p.Cys243Phe					ZEB2_uc002tvv.2_Missense_Mutation_p.C237F|ZEB2_uc010zbm.1_Missense_Mutation_p.C214F|ZEB2_uc010fnp.2_Missense_Mutation_p.C151F|ZEB2_uc010fnq.1_Missense_Mutation_p.C272F	p.C243F	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1208	-			243			C2H2-type 2.		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.728G>T	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.49|19.49	3.836945|3.836945	0.71373|0.71373	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000419938|ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	.|T;T;T;T;T	.|0.58940	.|0.3;0.3;0.3;0.3;0.3	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82815|0.82815	0.5119|0.5119	M|M	0.92122|0.92122	3.275|3.275	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;0.996;0.997;0.991	.|D;D;D;D;D	.|0.91635	.|0.999;0.999;0.996;0.996;0.993	D|D	0.86492|0.86492	0.1798|0.1798	5|10	.|0.87932	.|D	.|0	-8.4991|-8.4991	19.7329|19.7329	0.96190|0.96190	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|219;108;219;242;243	.|F5H814;Q53TD9;B7Z2P2;A0JP08;O60315	.|.;.;.;.;ZEB2_HUMAN	S|F	132|238;219;243;243;243;243	.|ENSP00000443792:C219F;ENSP00000302501:C243F;ENSP00000386854:C243F;ENSP00000395496:C243F;ENSP00000376601:C243F	.|ENSP00000302501:C243F	A|C	-|-	1|2	0|0	ZEB2|ZEB2	144878032|144878032	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.487000|7.487000	0.81328|0.81328	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.557	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		46	74	1	0	4.44401e-20	0.002522	6.71989e-20	46	74				
CACNB4	785	broad.mit.edu	37	2	152732955	152732955	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:152732955C>A	ENST00000539935.1	-	5	573	c.506G>T	c.(505-507)gGa>gTa	p.G169V	CACNB4_ENST00000360283.6_Missense_Mutation_p.G135V|CACNB4_ENST00000201943.5_Missense_Mutation_p.G169V|CACNB4_ENST00000427385.1_Missense_Mutation_p.G151V|CACNB4_ENST00000534999.1_Missense_Mutation_p.G135V|CACNB4_ENST00000397327.2_Missense_Mutation_p.G122V	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	169					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGAAAACGTCCTCTTTTTTG	0.418																																							uc002tya.2		NA																	0				ovary(2)	2						c.(505-507)GGA>GTA		calcium channel, voltage-dependent, beta 4	Verapamil(DB00661)						139.0	131.0	134.0					2																	152732955		1898	4121	6019	SO:0001583	missense	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152732955C>A	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.506G>T	2.37:g.152732955C>A	ENSP00000438949:p.Gly169Val					CACNB4_uc002txy.2_Missense_Mutation_p.G135V|CACNB4_uc002txz.2_Missense_Mutation_p.G151V|CACNB4_uc010fnz.2_Missense_Mutation_p.G169V|CACNB4_uc002tyb.2_Missense_Mutation_p.G135V	p.G169V	NM_000726	NP_000717	O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	5	574	-			169					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.506G>T	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069329	0.76301	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.63	5.63	0.86233	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	M	0.72894	2.215	0.80722	D	1	D;P;D;D;D	0.59767	0.986;0.594;0.979;0.964;0.979	P;B;P;P;P	0.59643	0.796;0.118;0.729;0.729;0.861	D	0.88155	0.2853	10	0.41790	T	0.15	-17.0634	20.0499	0.97621	0.0:1.0:0.0:0.0	.	169;135;169;151;135	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	V	169;135;126;164;135;122;151;169;169	ENSP00000438949:G169V;ENSP00000353425:G135V;ENSP00000390161:G164V;ENSP00000443893:G135V;ENSP00000380490:G122V;ENSP00000410978:G151V;ENSP00000201943:G169V	ENSP00000201943:G169V	G	-	2	0	CACNB4	152441201	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.562000	0.82300	2.798000	0.96311	0.655000	0.94253	GGA		0.418	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		3	16	1	0	1.23904e-05	0.000602	1.39567e-05	3	16				
CSRNP3	80034	broad.mit.edu	37	2	166535352	166535352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:166535352C>T	ENST00000342316.4	+	5	1119	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	CSRNP3_ENST00000314499.7_Nonsense_Mutation_p.Q283*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.Q315*	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	283					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AAACCGAGAGCAGCAAATCCC	0.448																																							uc002udf.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(847-849)CAG>TAG		cysteine-serine-rich nuclear protein 3							74.0	73.0	73.0					2																	166535352		2203	4300	6503	SO:0001587	stop_gained	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166535352C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.847C>T	2.37:g.166535352C>T	ENSP00000344042:p.Gln283*					CSRNP3_uc002udg.2_Nonsense_Mutation_p.Q283*	p.Q283*	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			7	1223	+			283					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Nonsense_Mutation	SNP	ENST00000342316.4	37	c.847C>T	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	35	5.545357	0.96488	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	.	.	.	5.71	5.71	0.89125	.	0.107994	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-22.2246	18.8336	0.92151	0.0:1.0:0.0:0.0	.	.	.	.	X	283;290;283;283;315	.	ENSP00000318258:Q283X	Q	+	1	0	CSRNP3	166243598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.453000	0.80700	2.683000	0.91414	0.650000	0.86243	CAG		0.448	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		18	39	0	0	0	0.006122	0	18	39				
SCN1A	6323	broad.mit.edu	37	2	166895987	166895987	+	Silent	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:166895987T>A	ENST00000303395.4	-	14	2534	c.2535A>T	c.(2533-2535)gtA>gtT	p.V845V	SCN1A_ENST00000375405.3_Silent_p.V834V|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.V845V|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.V817V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	845					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCCAAGTTCTACCAGGCTAA	0.358																																							uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(2500-2502)GTA>GTT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						77.0	76.0	76.0					2																	166895987		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166895987T>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2535A>T	2.37:g.166895987T>A						SCN1A_uc002udo.3_Silent_p.V714V|SCN1A_uc010fpk.2_Silent_p.V686V	p.V834V	NM_006920	NP_008851	P35498	SCN1A_HUMAN			14	2520	-			845			II.|Helical; Name=S3 of repeat II; (By similarity).		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.2502A>T	CCDS54413.1																																																																																				0.358	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		7	23	0	0	0	0.00308	0	7	23				
XIRP2	129446	broad.mit.edu	37	2	168104029	168104029	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:168104029C>A	ENST00000409195.1	+	9	6216	c.6127C>A	c.(6127-6129)Ctt>Att	p.L2043I	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1821I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2043I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1868					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAGAAAAGCCTTAGAAGACT	0.393																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(6127-6129)CTT>ATT		xin actin-binding repeat containing 2 isoform 1							73.0	67.0	69.0					2																	168104029		1852	4091	5943	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104029C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6127C>A	2.37:g.168104029C>A	ENSP00000386840:p.Leu2043Ile					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L1868I|XIRP2_uc010fpq.2_Missense_Mutation_p.L1821I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.L2043I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	6145	+			1868					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6127C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690066	0.48097	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.22336	1.96;1.96;1.96	5.73	2.98	0.34508	.	0.485095	0.21400	N	0.075161	T	0.35158	0.0922	M	0.67953	2.075	0.20403	N	0.999907	D;D;P	0.89917	0.983;1.0;0.525	P;D;B	0.83275	0.723;0.996;0.184	T	0.14727	-1.0462	10	0.20519	T	0.43	-7.2147	4.631	0.12502	0.0:0.5845:0.1605:0.255	.	1868;1868;1821	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	2043;2043;1821	ENSP00000386840:L2043I;ENSP00000295237:L2043I;ENSP00000387255:L1821I	ENSP00000295237:L2043I	L	+	1	0	XIRP2	167812275	0.000000	0.05858	0.998000	0.56505	0.990000	0.78478	0.205000	0.17356	0.791000	0.33826	0.650000	0.86243	CTT		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		22	32	1	0	1.55795e-14	0.001882	2.17155e-14	22	32				
LRP2	4036	broad.mit.edu	37	2	170013974	170013974	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:170013974C>G	ENST00000263816.3	-	64	12211	c.11926G>C	c.(11926-11928)Gag>Cag	p.E3976Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3976	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAATTTTGCTCGCATATATTT	0.383																																							uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(11926-11928)GAG>CAG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						152.0	145.0	147.0					2																	170013974		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170013974C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11926G>C	2.37:g.170013974C>G	ENSP00000263816:p.Glu3976Gln						p.E3976Q	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	64	12139	-			3976			EGF-like 14.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11926G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385667	0.25031	.	.	ENSG00000081479	ENST00000263816	D	0.82803	-1.65	5.88	4.99	0.66335	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.047268	0.85682	N	0.000000	T	0.68155	0.2970	N	0.14661	0.345	0.80722	D	1	P	0.39216	0.664	B	0.33392	0.163	T	0.66941	-0.5796	10	0.16896	T	0.51	.	16.2739	0.82634	0.0:0.8504:0.1496:0.0	.	3976	P98164	LRP2_HUMAN	Q	3976	ENSP00000263816:E3976Q	ENSP00000263816:E3976Q	E	-	1	0	LRP2	169722220	1.000000	0.71417	0.980000	0.43619	0.207000	0.24258	4.377000	0.59562	1.443000	0.47586	0.655000	0.94253	GAG		0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	26	0	0	0	0.009096	0	4	26				
ZNF804A	91752	broad.mit.edu	37	2	185798438	185798438	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:185798438G>T	ENST00000302277.6	+	3	958	c.364G>T	c.(364-366)Gag>Tag	p.E122*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	122							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAAGCTGGCTGAGCTAAGAAA	0.408																																							uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(364-366)GAG>TAG		zinc finger protein 804A							52.0	54.0	53.0					2																	185798438		2203	4300	6503	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185798438G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.364G>T	2.37:g.185798438G>T	ENSP00000303252:p.Glu122*						p.E122*	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			3	958	+			122					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.364G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	41	9.107820	0.99068	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.6618	12.0239	0.53358	0.0786:0.0:0.9214:0.0	.	.	.	.	X	122	.	ENSP00000303252:E122X	E	+	1	0	ZNF804A	185506683	1.000000	0.71417	0.982000	0.44146	0.976000	0.68499	8.061000	0.89467	2.644000	0.89710	0.585000	0.79938	GAG		0.408	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		6	35	1	0	0.00198382	0.001984	0.00207531	6	35				
ZNF804A	91752	broad.mit.edu	37	2	185801663	185801664	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:185801663_185801664GG>TT	ENST00000302277.6	+	4	2134_2135	c.1540_1541GG>TT	c.(1540-1542)GGa>TTa	p.G514L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	514							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATGAAATTGGAAGTAGCAAA	0.396																																							uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1540-1542)GGA>TTA		zinc finger protein 804A																																				SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801663_185801664GG>TT	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	Exception_encountered	2.37:g.185801663_185801664delinsTT	ENSP00000303252:p.Gly514Leu						p.G514L	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2134_2135	+			514					A7E253|Q6ZN26	Missense_Mutation	DNP	ENST00000302277.6	37	c.1540_1541GG>TT	CCDS2291.1																																																																																				0.396	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		32	60	0	0	0	0.004672	0	32	60				
PPIL3	53938	broad.mit.edu	37	2	201741695	201741695	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:201741695G>T	ENST00000392283.4	-	6	574	c.306C>A	c.(304-306)ttC>ttA	p.F102L	PPIL3_ENST00000409361.1_Missense_Mutation_p.F98L|PPIL3_ENST00000409449.1_Missense_Mutation_p.F106L|PPIL3_ENST00000286175.8_Missense_Mutation_p.F106L|PPIL3_ENST00000465823.1_5'UTR	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3	102	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|lung(2)	3						CATAGGTGATGAAGAACTGAG	0.378																																							uc002uwh.2		NA																	0					0						c.(304-306)TTC>TTA		peptidylprolyl isomerase-like 3 isoform PPIL3b							183.0	167.0	172.0					2																	201741695		2203	4300	6503	SO:0001583	missense	53938				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr2:201741695G>T	AF251049	CCDS2332.1, CCDS2333.1	2q33.1	2008-02-05			ENSG00000240344	ENSG00000240344			9262	protein-coding gene	gene with protein product	"""Cyclophilin J"""	615811				11435694	Standard	NM_032472		Approved	CyPJ	uc002uwi.3	Q9H2H8	OTTHUMG00000132782	ENST00000392283.4:c.306C>A	2.37:g.201741695G>T	ENSP00000376107:p.Phe102Leu					PPIL3_uc002uwi.2_Missense_Mutation_p.F106L|PPIL3_uc002uwj.2_Nonsense_Mutation_p.S71*|PPIL3_uc002uwk.2_Missense_Mutation_p.F102L	p.F102L	NM_130906	NP_570981	Q9H2H8	PPIL3_HUMAN			6	547	-			102			PPIase cyclophilin-type.		Q86WF9|Q96IA9|Q9BXZ1	Missense_Mutation	SNP	ENST00000392283.4	37	c.306C>A	CCDS2333.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.55|16.55	3.153731|3.153731	0.57259|0.57259	.|.	.|.	ENSG00000240344|ENSG00000240344	ENST00000286175;ENST00000392283;ENST00000409264;ENST00000409361;ENST00000409449|ENST00000443398	T;T;T;T;T|.	0.32515|.	1.45;1.45;1.45;1.45;1.45|.	5.52|5.52	2.78|2.78	0.32641|0.32641	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);|.	0.045947|.	0.85682|.	D|.	0.000000|.	T|.	0.79667|.	0.4485|.	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	D;B|.	0.59767|.	0.986;0.237|.	P;B|.	0.53760|.	0.734;0.242|.	T|.	0.81208|.	-0.1037|.	10|.	0.87932|.	D|.	0|.	.|.	10.7579|10.7579	0.46247|0.46247	0.2046:0.0:0.7954:0.0|0.2046:0.0:0.7954:0.0	.|.	106;102|.	Q9H2H8-2;Q9H2H8|.	.;PPIL3_HUMAN|.	L|X	106;102;121;98;106|71	ENSP00000286175:F106L;ENSP00000376107:F102L;ENSP00000386893:F121L;ENSP00000386235:F98L;ENSP00000387012:F106L|.	ENSP00000286175:F106L|.	F|S	-|-	3|2	2|0	PPIL3|PPIL3	201449940|201449940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.607000|2.607000	0.46300|0.46300	0.401000|0.401000	0.25424|0.25424	0.561000|0.561000	0.74099|0.74099	TTC|TCA		0.378	PPIL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256190.3			5	41	1	0	1.024e-07	0.000602	1.21372e-07	5	41				
CRYGC	1420	broad.mit.edu	37	2	208993031	208993031	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:208993031C>T	ENST00000282141.3	-	3	458	c.421G>A	c.(421-423)Ggg>Agg	p.G141R		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	141	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TATTGCCGCCCCCGGTAGTTG	0.632																																							uc002vco.3		NA																	0					0						c.(421-423)GGG>AGG		crystallin, gamma C							55.0	58.0	57.0					2																	208993031		2203	4300	6503	SO:0001583	missense	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208993031C>T		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.421G>A	2.37:g.208993031C>T	ENSP00000282141:p.Gly141Arg						p.G141R	NM_020989	NP_066269	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	459	-			141			Beta/gamma crystallin 'Greek key' 4.		Q53R50	Missense_Mutation	SNP	ENST00000282141.3	37	c.421G>A	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820767	0.71028	.	.	ENSG00000163254	ENST00000282141	D	0.94723	-3.5	5.13	4.24	0.50183	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.98305	0.9438	H	0.98577	4.27	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98850	1.0758	10	0.87932	D	0	.	13.0815	0.59117	0.162:0.838:0.0:0.0	.	141	P07315	CRGC_HUMAN	R	141	ENSP00000282141:G141R	ENSP00000282141:G141R	G	-	1	0	CRYGC	208701276	1.000000	0.71417	0.036000	0.18154	0.640000	0.38277	5.679000	0.68160	1.277000	0.44412	0.557000	0.71058	GGG		0.632	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		26	44	0	0	0	0.003954	0	26	44				
PIKFYVE	200576	broad.mit.edu	37	2	209141553	209141553	+	Splice_Site	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:209141553A>T	ENST00000264380.4	+	4	598	c.440A>T	c.(439-441)cAg>cTg	p.Q147L	PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000407449.1_Splice_Site_p.Q147L	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	147					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGGAAAAGCCAGGTACTGTCT	0.443																																							uc002vcz.2		NA																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(439-441)CAG>CTG		phosphatidylinositol-3-phosphate 5-kinase type							53.0	53.0	53.0					2																	209141553		2203	4300	6503	SO:0001630	splice_region_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209141553A>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.441+1A>T	2.37:g.209141553A>T						PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.Q147L|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Missense_Mutation_p.Q147L|PIKFYVE_uc002vcx.2_Intron	p.Q147L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			4	598	+			147					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.440A>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	33	5.282603	0.95489	.	.	ENSG00000115020	ENST00000264380;ENST00000407449;ENST00000422495;ENST00000452564	T;T;T;T	0.66638	1.5;-0.22;-0.2;1.66	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	N	0.19112	0.55	0.80722	D	1	D;D;D	0.63880	0.987;0.993;0.967	D;D;P	0.72338	0.953;0.977;0.901	T	0.74876	-0.3515	10	0.56958	D	0.05	-13.3206	16.1846	0.81942	1.0:0.0:0.0:0.0	.	147;147;147	Q9Y2I7;E9PDH4;Q08AR7	FYV1_HUMAN;.;.	L	147;147;159;147	ENSP00000264380:Q147L;ENSP00000384356:Q147L;ENSP00000414477:Q159L;ENSP00000405736:Q147L	ENSP00000264380:Q147L	Q	+	2	0	PIKFYVE	208849798	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.796000	0.91877	2.229000	0.72834	0.533000	0.62120	CAG		0.443	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	Missense_Mutation	8	24	0	0	0	0.00308	0	8	24				
CPS1	1373	broad.mit.edu	37	2	211452821	211452821	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:211452821G>T	ENST00000233072.5	+	7	857	c.661G>T	c.(661-663)Gta>Tta	p.V221L	CPS1_ENST00000430249.2_Missense_Mutation_p.V227L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	221	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.V221L(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CACAAAAGTGGTAGCTGTAGA	0.408																																							uc002vee.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(661-663)GTA>TTA		carbamoyl-phosphate synthetase 1 isoform b							139.0	144.0	142.0					2																	211452821		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211452821G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.661G>T	2.37:g.211452821G>T	ENSP00000233072:p.Val221Leu					CPS1_uc010fur.2_Missense_Mutation_p.V227L	p.V221L	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	7	793	+			221			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.661G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	9.832	1.188694	0.21954	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.89485	-2.52;-2.52	5.72	5.72	0.89469	Carbamoyl-phosphate synthase, GATase domain (1);Glutamine amidotransferase type 1 (1);	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	L	0.57536	1.79	0.80722	D	1	B;B	0.22909	0.077;0.04	B;B	0.29353	0.101;0.057	T	0.81095	-0.1088	10	0.02654	T	1	0.5614	20.244	0.98389	0.0:0.0:1.0:0.0	.	231;221	Q59HF8;P31327	.;CPSM_HUMAN	L	227;229;221;221	ENSP00000402608:V227L;ENSP00000233072:V221L	ENSP00000233072:V221L	V	+	1	0	CPS1	211161066	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.420000	0.97426	2.865000	0.98341	0.655000	0.94253	GTA		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			12	96	1	0	1.05317e-09	0.00245	1.30405e-09	12	96				
WNT10A	80326	broad.mit.edu	37	2	219757817	219757817	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:219757817C>A	ENST00000258411.3	+	4	1711	c.1078C>A	c.(1078-1080)Cgc>Agc	p.R360S		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	360			R -> C (probable disease-associated mutation found in a patient with an unclassified form of ectodermal dysplasia). {ECO:0000269|PubMed:20979233}.		cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGTGGGCCGCCTGTGCAA	0.726																																							uc002vjd.1		NA																	0				lung(1)|skin(1)	2						c.(1078-1080)CGC>AGC		wingless-type MMTV integration site family,							11.0	13.0	12.0					2																	219757817		1659	3487	5146	SO:0001583	missense	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219757817C>A	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.1078C>A	2.37:g.219757817C>A	ENSP00000258411:p.Arg360Ser						p.R360S	NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1541	+		Renal(207;0.0474)	360		R -> C (found in a patient with unclassified form of ectodermal dysplasia).			Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.1078C>A	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943939	0.34283	.	.	ENSG00000135925	ENST00000258411	D	0.87966	-2.32	4.87	2.92	0.33932	.	0.113666	0.64402	D	0.000008	D	0.95541	0.8551	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95552	0.8621	10	0.87932	D	0	.	10.6645	0.45721	0.1478:0.7097:0.1425:0.0	.	360	Q9GZT5	WN10A_HUMAN	S	360	ENSP00000258411:R360S	ENSP00000258411:R360S	R	+	1	0	WNT10A	219466061	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	3.516000	0.53436	1.215000	0.43411	0.561000	0.74099	CGC		0.726	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		15	15	1	0	5.03518e-11	0.007413	6.47566e-11	15	15				
DNPEP	23549	broad.mit.edu	37	2	220247914	220247914	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:220247914C>A	ENST00000273075.4	-	10	1095	c.875G>T	c.(874-876)gGc>gTc	p.G292V	DNPEP_ENST00000523282.1_Missense_Mutation_p.G300V|DNPEP_ENST00000490371.1_5'Flank|DNPEP_ENST00000373972.1_Missense_Mutation_p.G217V	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	282					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGCCAGGGCCTGCACAGGA	0.582																																							uc010zlg.1		NA																	0					0						c.(898-900)GGC>GTC		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						71.0	77.0	75.0					2																	220247914		2085	4203	6288	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220247914C>A		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.875G>T	2.37:g.220247914C>A	ENSP00000273075:p.Gly292Val					DNPEP_uc010zlf.1_RNA|DNPEP_uc002vle.2_Missense_Mutation_p.G292V|DNPEP_uc002vlf.1_Missense_Mutation_p.G278V|DNPEP_uc002vlh.2_Missense_Mutation_p.G239V|DNPEP_uc002vli.1_Missense_Mutation_p.G239V	p.G300V	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	981	-		Renal(207;0.0474)	282					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.899G>T	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	C	1.906	-0.451955	0.04540	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056;ENST00000457935	.	.	.	4.93	-0.192	0.13248	.	1.558820	0.03300	N	0.188797	T	0.16300	0.0392	N	0.03608	-0.345	0.09310	N	0.999992	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.0	T	0.12760	-1.0535	9	0.36615	T	0.2	0.9497	2.585	0.04828	0.1329:0.2245:0.4087:0.2339	.	300;300;282;292	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	V	292;292;217;300;185;264	.	ENSP00000273075:G292V	G	-	2	0	DNPEP	219956158	0.050000	0.20438	0.000000	0.03702	0.011000	0.07611	1.006000	0.29847	-0.233000	0.09797	-0.502000	0.04539	GGC		0.582	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		10	41	1	0	3.86212e-05	0.008291	4.22631e-05	10	41				
DNPEP	23549	broad.mit.edu	37	2	220247927	220247927	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:220247927C>G	ENST00000273075.4	-	10	1082	c.862G>C	c.(862-864)Gat>Cat	p.D288H	DNPEP_ENST00000523282.1_Missense_Mutation_p.D296H|DNPEP_ENST00000490371.1_5'Flank|DNPEP_ENST00000373972.1_Missense_Mutation_p.D213H	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	278					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACAGGAATCTATCAAGGCC	0.587																																							uc010zlg.1		NA																	0					0						c.(886-888)GAT>CAT		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						69.0	74.0	72.0					2																	220247927		2081	4194	6275	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220247927C>G		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.862G>C	2.37:g.220247927C>G	ENSP00000273075:p.Asp288His					DNPEP_uc010zlf.1_RNA|DNPEP_uc002vle.2_Missense_Mutation_p.D288H|DNPEP_uc002vlf.1_Missense_Mutation_p.D274H|DNPEP_uc002vlh.2_Missense_Mutation_p.D235H|DNPEP_uc002vli.1_Missense_Mutation_p.D235H	p.D296H	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	968	-		Renal(207;0.0474)	278					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.886G>C	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759055	0.31137	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056;ENST00000457935	.	.	.	4.93	4.93	0.64822	.	0.217735	0.46145	D	0.000310	T	0.74023	0.3662	M	0.71206	2.165	0.58432	D	0.999991	B;B;D;B	0.54772	0.172;0.172;0.968;0.335	B;B;P;B	0.54924	0.067;0.067;0.764;0.067	T	0.76942	-0.2772	9	0.56958	D	0.05	-15.7323	18.3468	0.90325	0.0:1.0:0.0:0.0	.	296;296;278;288	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	H	288;288;213;296;181;260	.	ENSP00000273075:D288H	D	-	1	0	DNPEP	219956171	0.998000	0.40836	1.000000	0.80357	0.313000	0.28021	3.393000	0.52544	2.553000	0.86117	0.462000	0.41574	GAT		0.587	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		6	35	0	0	0	0.001168	0	6	35				
DOCK10	55619	broad.mit.edu	37	2	225664932	225664932	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:225664932T>A	ENST00000258390.7	-	41	4509	c.4442A>T	c.(4441-4443)aAt>aTt	p.N1481I	DOCK10_ENST00000409592.3_Missense_Mutation_p.N1475I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1481					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CGTAGCTATATTGGCCTCAGT	0.373																																							uc010fwz.1		NA																	0				ovary(2)	2						c.(4441-4443)AAT>ATT		dedicator of cytokinesis 10							114.0	110.0	111.0					2																	225664932		1878	4098	5976	SO:0001583	missense	55619						GTP binding	g.chr2:225664932T>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4442A>T	2.37:g.225664932T>A	ENSP00000258390:p.Asn1481Ile					DOCK10_uc002vob.2_Missense_Mutation_p.N1475I|DOCK10_uc002voa.2_Missense_Mutation_p.N137I|DOCK10_uc002voc.2_Missense_Mutation_p.N335I	p.N1481I	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	41	4681	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1481					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4442A>T	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.01|18.01	3.527471|3.527471	0.64860|0.64860	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390;ENST00000373702	.|T;T	.|0.01902	.|4.57;4.57	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15305|0.15305	0.0369|0.0369	M|M	0.85462|0.85462	2.755|2.755	0.54753|0.54753	D|D	0.999985|0.999985	.|D;D;D;D	.|0.89917	.|0.959;0.999;1.0;1.0	.|P;D;D;D	.|0.91635	.|0.854;0.994;0.999;0.996	T|T	0.00171|0.00171	-1.1960|-1.1960	5|10	.|0.87932	.|D	.|0	.|.	16.1864|16.1864	0.81955|0.81955	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1481;335;1475;143	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	L|I	363|1475;1481;19	.|ENSP00000386694:N1475I;ENSP00000258390:N1481I	.|ENSP00000258390:N1481I	I|N	-|-	1|2	0|0	DOCK10|DOCK10	225373176|225373176	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.214000|0.214000	0.24535|0.24535	7.109000|7.109000	0.77062|0.77062	2.281000|2.281000	0.76405|0.76405	0.528000|0.528000	0.53228|0.53228	ATA|AAT		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			3	22	0	0	0	0.009096	0	3	22				
DAW1	164781	broad.mit.edu	37	2	228754681	228754681	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:228754681G>T	ENST00000309931.2	+	3	306	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	DAW1_ENST00000472604.1_3'UTR|SNORA25_ENST00000607153.1_RNA|DAW1_ENST00000545118.1_Missense_Mutation_p.G60C|DAW1_ENST00000373666.2_Missense_Mutation_p.G75C	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	75						cilium (GO:0005929)											AGAGAAACTCGGCCAGAACAG	0.358																																							uc002vpn.1		NA																	0				breast(1)	1						c.(223-225)GGC>TGC		WD repeat domain 69							96.0	91.0	93.0					2																	228754681		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228754681G>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.223G>T	2.37:g.228754681G>T	ENSP00000311899:p.Gly75Cys					WDR69_uc010zlw.1_Missense_Mutation_p.G60C|WDR69_uc002vpo.1_RNA	p.G75C	NM_178821	NP_849143	Q8N136	WDR69_HUMAN		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)	3	302	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	75					Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.223G>T	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879865	0.33162	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000440997;ENST00000545118	T;T;T;T	0.53640	0.69;0.63;0.89;0.61	5.46	-6.94	0.01633	.	0.390503	0.25442	N	0.030659	T	0.31295	0.0792	L	0.50333	1.59	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.05321	-1.0892	10	0.41790	T	0.15	.	6.9968	0.24786	0.3494:0.2795:0.3711:0.0	.	75	Q8N136	WDR69_HUMAN	C	75;75;60;60	ENSP00000362770:G75C;ENSP00000311899:G75C;ENSP00000394853:G60C;ENSP00000437887:G60C	ENSP00000311899:G75C	G	+	1	0	WDR69	228462925	0.000000	0.05858	0.000000	0.03702	0.828000	0.46876	-0.061000	0.11693	-1.869000	0.01141	0.655000	0.94253	GGC		0.358	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		15	31	1	0	2.31682e-05	0.003163	2.58057e-05	15	31				
PTMA	5757	broad.mit.edu	37	2	232577179	232577179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:232577179G>T	ENST00000341369.7	+	4	432	c.241G>T	c.(241-243)Gag>Tag	p.E81*	PTMA_ENST00000409683.1_Nonsense_Mutation_p.E77*|PTMA_ENST00000410064.1_Nonsense_Mutation_p.E106*|PTMA_ENST00000409321.1_Nonsense_Mutation_p.E101*|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000409115.3_Nonsense_Mutation_p.E80*	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha	81	Asp/Glu-rich (acidic).				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AGATGAAGATGAGGAAGCTGA	0.557																																							uc002vsc.3		NA																	0					0						c.(241-243)GAG>TAG		prothymosin, alpha isoform 1							77.0	92.0	87.0					2																	232577179		2044	4212	6256	SO:0001587	stop_gained	5757				transcription, DNA-dependent	nucleus		g.chr2:232577179G>T		CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"""gene sequence 28"""	188390	"""prothymosin, alpha (gene sequence 28)"""	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.241G>T	2.37:g.232577179G>T	ENSP00000344547:p.Glu81*					PTMA_uc002vsb.3_Nonsense_Mutation_p.E80*|PTMA_uc010zmf.1_RNA|MIR1244_hsa-mir-1244-1|MI0006379_5'Flank	p.E81*	NM_001099285	NP_001092755	P06454	PTMA_HUMAN		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	4	423	+		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)	81			Asp/Glu-rich (acidic).		Q15249|Q15592	Nonsense_Mutation	SNP	ENST00000341369.7	37	c.241G>T	CCDS42833.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.660453|7.660453	0.98419|0.98419	.|.	.|.	ENSG00000187514|ENSG00000187514	ENST00000409321;ENST00000409115;ENST00000341369;ENST00000409683;ENST00000410064;ENST00000358839|ENST00000412128	.|.	.|.	.|.	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	0.266243|.	0.28388|.	U|.	0.015538|.	.|T	.|0.73202	.|0.3557	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73122	.|-0.4082	.|4	0.87932|.	D|.	0|.	.|.	17.0969|17.0969	0.86637|0.86637	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	101;80;81;77;106;105|117	.|.	ENSP00000344547:E81X|.	E|M	+|+	1|3	0|0	PTMA|PTMA	232285423|232285423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.352000|4.352000	0.59404|0.59404	2.338000|2.338000	0.79540|0.79540	0.549000|0.549000	0.68633|0.68633	GAG|ATG		0.557	PTMA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332553.1			14	19	1	0	1.62849e-17	0.004007	2.36226e-17	14	19				
GAL3ST2	64090	broad.mit.edu	37	2	242738535	242738535	+	Missense_Mutation	SNP	G	G	A	rs201607018		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:242738535G>A	ENST00000192314.6	+	2	216	c.85G>A	c.(85-87)Gga>Aga	p.G29R	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	29					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CCTGCTGGCCGGATTCCTGCA	0.632													A|||	1	0.000199681	0.0	0.0	5008	,	,		17517	0.001		0.0	False		,,,				2504	0.0						uc002wcj.1		NA																	0					0						c.(85-87)GGA>AGA		galactose-3-O-sulfotransferase 2							100.0	91.0	94.0					2																	242738535		2203	4300	6503	SO:0001583	missense	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738535G>A	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.85G>A	2.37:g.242738535G>A	ENSP00000192314:p.Gly29Arg						p.G29R	NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	216	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	29			Helical; Signal-anchor for type II membrane protein; (Potential).		Q17RK0|Q57Z52	Missense_Mutation	SNP	ENST00000192314.6	37	c.85G>A	CCDS33427.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	1.811	-0.474573	0.04414	.	.	ENSG00000154252	ENST00000192314	T	0.15256	2.44	3.42	-4.51	0.03483	.	16.720700	0.00166	N	0.000001	T	0.11410	0.0278	L	0.31294	0.92	0.09310	N	1	B	0.26195	0.144	B	0.21708	0.036	T	0.15321	-1.0441	10	0.39692	T	0.17	.	3.9879	0.09524	0.3826:0.0:0.3583:0.2591	.	29	Q9H3Q3	G3ST2_HUMAN	R	29	ENSP00000192314:G29R	ENSP00000192314:G29R	G	+	1	0	GAL3ST2	242387208	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.920000	0.04013	-1.239000	0.02532	-1.785000	0.00643	GGA		0.632	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		31	36	0	0	0	0.002445	0	31	36				
CHGB	1114	broad.mit.edu	37	20	5903171	5903171	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:5903171C>T	ENST00000378961.4	+	4	585	c.381C>T	c.(379-381)ggC>ggT	p.G127G		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	127						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAGAGGGAGGCGGGCACAGCC	0.617																																							uc002wmg.2		NA																	0				breast(3)|skin(2)|ovary(1)	6						c.(379-381)GGC>GGT		chromogranin B precursor							29.0	32.0	31.0					20																	5903171		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5903171C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.381C>T	20.37:g.5903171C>T						CHGB_uc010zqz.1_Intron	p.G127G	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	687	+			127					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.381C>T	CCDS13092.1																																																																																				0.617	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		15	10	0	0	0	0.00499	0	15	10				
BPIFB2	80341	broad.mit.edu	37	20	31606157	31606157	+	Splice_Site	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:31606157G>A	ENST00000170150.3	+	8	864		c.e8+1			NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2							extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GGAAGTCAATGTAAGTGCCTC	0.572																																							uc002wyj.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.e8+1		bactericidal/permeability-increasing							67.0	62.0	64.0					20																	31606157		2203	4300	6503	SO:0001630	splice_region_variant	80341					extracellular region	lipid binding	g.chr20:31606157G>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.669+1G>A	20.37:g.31606157G>A							p.N223_splice	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			8	863	+								Q6UWN3|Q6ZME0|Q8NFQ7	Splice_Site	SNP	ENST00000170150.3	37	c.669_splice	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532378	0.27387	.	.	ENSG00000078898	ENST00000170150	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.03	0.64609	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFB2	31069818	0.999000	0.42202	0.896000	0.35187	0.123000	0.20343	4.483000	0.60264	2.689000	0.91719	0.561000	0.74099	.		0.572	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227	Intron	43	14	0	0	0	0.002522	0	43	14				
RBM12	10137	broad.mit.edu	37	20	34241416	34241416	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:34241416T>C	ENST00000374114.3	-	3	2092	c.1829A>G	c.(1828-1830)aAt>aGt	p.N610S	CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.N610S|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.N610S|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	610						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTCTCTCCCATTAAGTTTTTT	0.403																																							uc002xdq.2		NA																	0				ovary(3)	3						c.(1828-1830)AAT>AGT		RNA binding motif protein 12							169.0	163.0	165.0					20																	34241416		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241416T>C	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1829A>G	20.37:g.34241416T>C	ENSP00000363228:p.Asn610Ser					CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.N610S|RBM12_uc002xds.2_Missense_Mutation_p.N610S	p.N610S	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2061	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		610					B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.1829A>G	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.603554	0.28534	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.17213	2.29;2.29;2.29	5.1	2.79	0.32731	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.063428	0.64402	D	0.000007	T	0.13243	0.0321	L	0.38175	1.15	0.80722	D	1	B	0.27416	0.178	B	0.31101	0.124	T	0.10474	-1.0628	10	0.30854	T	0.27	-10.9058	8.516	0.33246	0.1295:0.0:0.136:0.7345	.	610	Q9NTZ6	RBM12_HUMAN	S	610;610;610;409	ENSP00000363228:N610S;ENSP00000352668:N610S;ENSP00000363217:N610S	ENSP00000339879:N409S	N	-	2	0	RBM12	33704830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.681000	0.68175	0.382000	0.24878	0.460000	0.39030	AAT		0.403	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		122	77	0	0	0	0.00361	0	122	77				
ADA	100	broad.mit.edu	37	20	43251662	43251662	+	Missense_Mutation	SNP	C	C	T	rs371353841		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:43251662C>T	ENST00000372874.4	-	7	798	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	222					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TTTACTACTTCGGCCGAGCCC	0.627									Adenosine Deaminase Deficiency																														uc002xmj.2		NA																	0				pancreas(2)|ovary(1)	3						c.(664-666)GAA>AAA		adenosine deaminase	Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	C	LYS/GLU	0,4406		0,0,2203	84.0	84.0	84.0		664	0.6	0.0	20		84	2,8598	2.2+/-6.3	0,2,4298	no	missense	ADA	NM_000022.2	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	222/364	43251662	2,13004	2203	4300	6503	SO:0001583	missense	100	Adenosine_Deaminase_Deficiency	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	g.chr20:43251662C>T	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.664G>A	20.37:g.43251662C>T	ENSP00000361965:p.Glu222Lys					ADA_uc010ggt.2_RNA	p.E222K	NM_000022	NP_000013	P00813	ADA_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		7	792	-		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	222					Q53F92|Q6LA59	Missense_Mutation	SNP	ENST00000372874.4	37	c.664G>A	CCDS13335.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.483068	0.01027	0.0	2.33E-4	ENSG00000196839	ENST00000372874	D	0.95482	-3.72	4.89	0.643	0.17770	Adenosine/AMP deaminase (1);	0.889113	0.09977	N	0.731536	D	0.90943	0.7153	L	0.45285	1.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.80367	-0.1412	10	0.33141	T	0.24	-0.0797	5.5668	0.17175	0.0:0.4151:0.241:0.3439	.	222	P00813	ADA_HUMAN	K	222	ENSP00000361965:E222K	ENSP00000361965:E222K	E	-	1	0	ADA	42685076	0.000000	0.05858	0.031000	0.17742	0.051000	0.14879	-0.546000	0.06062	0.255000	0.21593	-0.244000	0.11960	GAA		0.627	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		25	74	0	0	0	0.003954	0	25	74				
EYA2	2139	broad.mit.edu	37	20	45797789	45797789	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:45797789T>G	ENST00000327619.5	+	11	1355	c.981T>G	c.(979-981)gaT>gaG	p.D327E	EYA2_ENST00000317304.6_Missense_Mutation_p.D297E|MIR3616_ENST00000584070.1_RNA|EYA2_ENST00000357410.3_Missense_Mutation_p.D327E	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	327					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTCCATAGGATTGTGACCAGA	0.453																																					Pancreas(120;56 1725 18501 25218 43520)	Pancreas(120;56 1725 18501 25218 43520)	uc002xsm.2		NA																	0				ovary(1)	1						c.(979-981)GAT>GAG		eyes absent 2 isoform a							130.0	123.0	125.0					20																	45797789		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45797789T>G		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.981T>G	20.37:g.45797789T>G	ENSP00000333640:p.Asp327Glu					EYA2_uc010ghp.2_Missense_Mutation_p.D327E|EYA2_uc002xsn.2_Missense_Mutation_p.D332E|EYA2_uc002xso.2_Missense_Mutation_p.D327E|EYA2_uc002xsp.2_Missense_Mutation_p.D327E|EYA2_uc002xsq.2_Missense_Mutation_p.D297E	p.D327E	NM_005244	NP_005235	O00167	EYA2_HUMAN			11	1355	+		Myeloproliferative disorder(115;0.0241)	327					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.981T>G	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.716939	0.48622	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	T;T;D	0.82344	-1.11;-1.11;-1.6	5.29	-6.83	0.01693	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.050254	0.85682	D	0.000000	T	0.59810	0.2221	N	0.04132	-0.27	0.27241	N	0.959133	B;B;B;B	0.19706	0.038;0.02;0.001;0.0	B;B;B;B	0.21708	0.008;0.036;0.002;0.001	T	0.38887	-0.9640	10	0.49607	T	0.09	-14.939	12.5253	0.56083	0.0904:0.6854:0.0:0.2243	.	327;297;327;327	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	E	327;327;297;297	ENSP00000333640:D327E;ENSP00000349986:D327E;ENSP00000321590:D297E	ENSP00000321590:D297E	D	+	3	2	EYA2	45231196	0.000000	0.05858	0.774000	0.31636	0.990000	0.78478	-3.046000	0.00630	-1.790000	0.01263	0.528000	0.53228	GAT		0.453	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		10	110	0	0	0	0.006214	0	10	110				
CASS4	57091	broad.mit.edu	37	20	55027328	55027328	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:55027328C>A	ENST00000360314.3	+	6	1321	c.1096C>A	c.(1096-1098)Ctg>Atg	p.L366M	CASS4_ENST00000371336.3_Missense_Mutation_p.L366M|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	366					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGGGAAGGAGCTGGAGAAAGC	0.502																																							uc002xxp.2		NA																	0				ovary(2)|skin(1)	3						c.(1096-1098)CTG>ATG		HEF-like protein isoform a							62.0	52.0	55.0					20																	55027328		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027328C>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1096C>A	20.37:g.55027328C>A	ENSP00000353462:p.Leu366Met					CASS4_uc002xxq.3_Missense_Mutation_p.L366M|CASS4_uc002xxr.2_Missense_Mutation_p.L366M|CASS4_uc010zze.1_Missense_Mutation_p.L312M|CASS4_uc010gio.2_Intron	p.L366M	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1321	+			366					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.1096C>A	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293406	0.40594	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.13307	2.6;2.6	5.37	2.21	0.28008	.	0.638591	0.13652	N	0.372185	T	0.16214	0.0390	L	0.55103	1.725	0.09310	N	1	P;B;B	0.49961	0.93;0.4;0.278	P;B;B	0.48030	0.564;0.173;0.084	T	0.11012	-1.0605	10	0.30078	T	0.28	-0.7733	6.5278	0.22310	0.2485:0.5936:0.0:0.1579	.	312;366;366	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	M	366	ENSP00000353462:L366M;ENSP00000360387:L366M	ENSP00000353462:L366M	L	+	1	2	CASS4	54460735	0.794000	0.28838	0.011000	0.14972	0.007000	0.05969	1.457000	0.35212	0.749000	0.32854	0.557000	0.71058	CTG		0.502	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		35	22	1	0	2.47316e-13	0.003271	3.35355e-13	35	22				
STX16	8675	broad.mit.edu	37	20	57246287	57246287	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:57246287G>T	ENST00000371141.4	+	7	1450	c.726G>T	c.(724-726)caG>caT	p.Q242H	STX16_ENST00000358029.4_Missense_Mutation_p.Q238H|STX16_ENST00000371132.4_Missense_Mutation_p.Q221H|STX16_ENST00000496003.1_Intron|STX16_ENST00000361830.3_Missense_Mutation_p.Q242H|STX16_ENST00000359617.4_Missense_Mutation_p.Q189H|STX16_ENST00000361770.5_Missense_Mutation_p.Q225H|STX16_ENST00000355957.5_Missense_Mutation_p.Q225H|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.Q242H	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	242	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			AGATTCGCCAGATTGTACAGT	0.478																																							uc002xzi.2		NA																	0				ovary(1)	1						c.(724-726)CAG>CAT		syntaxin 16 isoform a							147.0	134.0	138.0					20																	57246287		2203	4300	6503	SO:0001583	missense	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57246287G>T	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.726G>T	20.37:g.57246287G>T	ENSP00000360183:p.Gln242His					STX16_uc010zzq.1_Missense_Mutation_p.Q56H|STX16_uc002xzk.2_Missense_Mutation_p.Q225H|STX16_uc002xzm.2_Missense_Mutation_p.Q238H|STX16_uc002xzj.2_Missense_Mutation_p.Q221H|STX16_uc002xzl.2_Missense_Mutation_p.Q56H	p.Q242H	NM_001001433	NP_001001433	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		7	1461	+	all_lung(29;0.0175)		242			t-SNARE coiled-coil homology.|Cytoplasmic (Potential).		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	c.726G>T	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346905	0.41599	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000312283;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000435446	T;T;T;T;T;T;T;T	0.48201	1.84;1.84;0.82;1.84;1.84;1.84;1.84;1.84	5.79	3.85	0.44370	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.000000	0.85682	U	0.000000	T	0.45657	0.1353	L	0.58302	1.8	0.49051	D	0.999748	B;B;B;B	0.28584	0.014;0.024;0.011;0.216	B;B;B;B	0.33295	0.066;0.039;0.033;0.161	T	0.40627	-0.9553	10	0.51188	T	0.08	.	10.7861	0.46405	0.0704:0.1317:0.7978:0.0	.	238;225;221;242	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	H	225;225;189;189;242;189;221;238;242;56	ENSP00000348229:Q225H;ENSP00000355408:Q225H;ENSP00000312086:Q189H;ENSP00000352634:Q189H;ENSP00000360183:Q242H;ENSP00000360173:Q221H;ENSP00000350723:Q238H;ENSP00000354445:Q242H	ENSP00000360180:Q189H	Q	+	3	2	STX16	56679693	1.000000	0.71417	0.976000	0.42696	0.502000	0.33828	2.333000	0.43912	0.790000	0.33803	0.650000	0.86243	CAG		0.478	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		49	34	1	0	4.64027e-19	0.00361	6.93261e-19	49	34				
KCNQ2	3785	broad.mit.edu	37	20	62038292	62038292	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:62038292C>A	ENST00000359125.2	-	17	2498	c.2324G>T	c.(2323-2325)aGg>aTg	p.R775M	KCNQ2_ENST00000370224.1_Missense_Mutation_p.R783M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R775M|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R757M|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R783M|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R744M|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R747M	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	775					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CTCGGGGGGCCTGCAGCCCGG	0.711																																							uc002yey.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2323-2325)AGG>ATG		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						16.0	13.0	14.0					20																	62038292		2181	4289	6470	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62038292C>A	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2324G>T	20.37:g.62038292C>A	ENSP00000352035:p.Arg775Met					KCNQ2_uc002yez.1_Missense_Mutation_p.R744M|KCNQ2_uc002yfa.1_Missense_Mutation_p.R757M|KCNQ2_uc002yfb.1_Missense_Mutation_p.R747M	p.R775M	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		17	2501	-	all_cancers(38;1.24e-11)		775			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.2324G>T	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468126	0.43839	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	4.48	3.41	0.39046	.	0.626598	0.15937	N	0.237386	T	0.30070	0.0753	N	0.08118	0	0.30360	N	0.783887	P;P;P;P	0.45240	0.824;0.504;0.564;0.854	B;B;B;P	0.47891	0.393;0.224;0.286;0.56	T	0.17837	-1.0356	10	0.66056	D	0.02	-7.2852	3.1379	0.06446	0.0:0.5283:0.0:0.4717	.	747;757;744;775	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	M	757;775;745;783;775;744;747;771;783	ENSP00000349789:R757M;ENSP00000352035:R775M;ENSP00000359246:R745M;ENSP00000346601:R783M;ENSP00000352718:R775M;ENSP00000399612:R744M;ENSP00000353668:R747M;ENSP00000339611:R771M;ENSP00000359244:R783M	ENSP00000339611:R771M	R	-	2	0	KCNQ2	61508736	0.001000	0.12720	0.703000	0.30354	0.102000	0.19082	1.028000	0.30128	2.040000	0.60383	0.491000	0.48974	AGG		0.711	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		5	8	1	0	3.59834e-05	0.001168	3.94631e-05	5	8				
TPTE	7179	broad.mit.edu	37	21	10914415	10914415	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:10914415A>G	ENST00000361285.4	-	21	1633	c.1304T>C	c.(1303-1305)aTa>aCa	p.I435T	TPTE_ENST00000298232.7_Missense_Mutation_p.I417T|TPTE_ENST00000342420.5_Missense_Mutation_p.I397T|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	435	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTCCATTTCTATTTGGATTTT	0.318																																							uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1303-1305)ATA>ACA		transmembrane phosphatase with tensin homology							89.0	77.0	81.0					21																	10914415		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10914415A>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1304T>C	21.37:g.10914415A>G	ENSP00000355208:p.Ile435Thr					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.I417T|TPTE_uc002yir.1_Missense_Mutation_p.I397T|TPTE_uc010gkv.1_Missense_Mutation_p.I297T	p.I435T	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	21	1672	-			435			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1304T>C	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.33	1.319799	0.23994	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.88124	-2.34;-2.34;-2.34	2.15	0.962	0.19643	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.098891	0.64402	U	0.000004	D	0.88829	0.6543	M	0.78049	2.395	0.09310	N	0.999998	D;D;B	0.56035	0.974;0.974;0.132	P;P;B	0.55871	0.786;0.786;0.166	T	0.80400	-0.1398	10	0.66056	D	0.02	-9.7473	4.8392	0.13481	0.8327:0.0:0.1673:0.0	.	397;417;435	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	T	417;435;397	ENSP00000298232:I417T;ENSP00000355208:I435T;ENSP00000344441:I397T	ENSP00000298232:I417T	I	-	2	0	TPTE	9936286	0.005000	0.15991	0.000000	0.03702	0.006000	0.05464	2.129000	0.42055	0.158000	0.19367	-1.194000	0.01681	ATA		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			7	34	0	0	0	0.001984	0	7	34				
ADAMTS5	11096	broad.mit.edu	37	21	28306833	28306833	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:28306833G>A	ENST00000284987.5	-	4	1762	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	547	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCTGCAGGCAGATTCTCCCCT	0.517																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1639-1641)ATC>ATT		ADAM metallopeptidase with thrombospondin type 1							93.0	88.0	89.0					21																	28306833		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28306833G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1641C>T	21.37:g.28306833G>A							p.I547I	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			4	2370	-			547			Disintegrin.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.1641C>T	CCDS13579.1																																																																																				0.517	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			31	53	0	0	0	0.003271	0	31	53				
GRIK1	2897	broad.mit.edu	37	21	30925934	30925934	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:30925934C>T	ENST00000399907.1	-	17	3110	c.2699G>A	c.(2698-2700)gGt>gAt	p.G900D	GRIK1_ENST00000399913.1_Intron|GRIK1_ENST00000399909.1_Missense_Mutation_p.G885D|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000309434.7_Missense_Mutation_p.G902D|GRIK1_ENST00000399914.1_Intron|GRIK1_ENST00000327783.4_Intron	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	900					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AATTAATTTACCACATTCTAA	0.368																																							uc002yno.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2698-2700)GGT>GAT		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						116.0	119.0	118.0					21																	30925934		1830	4089	5919	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30925934C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2699G>A	21.37:g.30925934C>T	ENSP00000382791:p.Gly900Asp					GRIK1_uc002ynn.2_Intron|GRIK1_uc011acs.1_Intron|GRIK1_uc011act.1_Intron	p.G900D	NM_000830	NP_000821	P39086	GRIK1_HUMAN			17	3163	-			900			Cytoplasmic (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2699G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.958120	0.34565	.	.	ENSG00000171189	ENST00000399907;ENST00000399909;ENST00000309434	T;T;T	0.12255	2.74;2.7;2.74	5.4	5.4	0.78164	.	.	.	.	.	T	0.08268	0.0206	N	0.08118	0	0.42886	D	0.994183	P	0.36789	0.57	B	0.33196	0.159	T	0.41627	-0.9498	9	0.22706	T	0.39	.	18.9642	0.92689	0.0:1.0:0.0:0.0	.	900	P39086	GRIK1_HUMAN	D	900;885;902	ENSP00000382791:G900D;ENSP00000382793:G885D;ENSP00000311646:G902D	ENSP00000311646:G902D	G	-	2	0	GRIK1	29847805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.960000	0.76036	2.805000	0.96524	0.655000	0.94253	GGT		0.368	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			53	66	0	0	0	0.00361	0	53	66				
KRTAP6-3	337968	broad.mit.edu	37	21	31964873	31964873	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:31964873T>A	ENST00000391624.1	+	1	115	c.88T>A	c.(88-90)Tgt>Agt	p.C30S	KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3	30						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						ttatggcggctgtggctatgg	0.592																																							uc002yom.2		NA																	0					0						c.(109-111)TGT>AGT		keratin associated protein 6-3							95.0	106.0	102.0					21																	31964873		2203	4300	6503	SO:0001583	missense	337968							g.chr21:31964873T>A	AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"""Keratin associated proteins"""	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.88T>A	21.37:g.31964873T>A	ENSP00000375482:p.Cys30Ser						p.C37S	NM_181605	NP_853636					1	115	+								A4IF26	Missense_Mutation	SNP	ENST00000391624.1	37	c.109T>A		.	.	.	.	.	.	.	.	.	.	C	8.957	0.969690	0.18659	.	.	ENSG00000212938	ENST00000391624	T	0.29142	1.58	1.2	-2.4	0.06583	.	.	.	.	.	T	0.19127	0.0459	L	0.29908	0.895	0.22412	N	0.999126	P	0.37500	0.597	B	0.39119	0.291	T	0.14309	-1.0477	9	0.87932	D	0	.	2.6837	0.05101	0.4132:0.3838:0.0:0.203	.	30	Q3LI67	KRA63_HUMAN	S	30	ENSP00000375482:C30S	ENSP00000375482:C30S	C	+	1	0	KRTAP6-3	30886744	0.000000	0.05858	0.943000	0.38184	0.715000	0.41141	-0.250000	0.08830	-1.136000	0.02892	0.000000	0.15137	TGT		0.592	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128243.2	NM_181605		18	66	0	0	0	0.007413	0	18	66				
HUNK	30811	broad.mit.edu	37	21	33296855	33296855	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:33296855C>G	ENST00000270112.2	+	2	697	c.337C>G	c.(337-339)Cag>Gag	p.Q113E		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCGAGAGGGTCAGATCCAGCA	0.483																																							uc002yph.2		NA																	0				stomach(1)|skin(1)	2						c.(337-339)CAG>GAG		hormonally upregulated Neu-associated kinase							62.0	57.0	59.0					21																	33296855		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33296855C>G	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.337C>G	21.37:g.33296855C>G	ENSP00000270112:p.Gln113Glu						p.Q113E	NM_014586	NP_055401	P57058	HUNK_HUMAN			2	697	+			113			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.337C>G	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898230	0.52227	.	.	ENSG00000142149	ENST00000270112	T	0.64991	-0.13	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.187059	0.47852	D	0.000220	T	0.51227	0.1662	N	0.02697	-0.525	0.45046	D	0.998064	P	0.46987	0.888	P	0.50659	0.647	T	0.66618	-0.5878	10	0.87932	D	0	-19.8963	18.1961	0.89822	0.0:1.0:0.0:0.0	.	113	P57058	HUNK_HUMAN	E	113	ENSP00000270112:Q113E	ENSP00000270112:Q113E	Q	+	1	0	HUNK	32218726	0.999000	0.42202	0.984000	0.44739	0.658000	0.38924	4.291000	0.59025	2.513000	0.84729	0.650000	0.86243	CAG		0.483	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		5	54	0	0	0	0.006214	0	5	54				
HUNK	30811	broad.mit.edu	37	21	33296872	33296872	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:33296872C>T	ENST00000270112.2	+	2	714	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGCAGATGATCCGCCACCCCA	0.493																																							uc002yph.2		NA																	0				stomach(1)|skin(1)	2						c.(352-354)ATC>ATT		hormonally upregulated Neu-associated kinase							66.0	60.0	62.0					21																	33296872		2203	4300	6503	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33296872C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.354C>T	21.37:g.33296872C>T							p.I118I	NM_014586	NP_055401	P57058	HUNK_HUMAN			2	714	+			118			Protein kinase.			Silent	SNP	ENST00000270112.2	37	c.354C>T	CCDS13610.1																																																																																				0.493	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		6	64	0	0	0	0.008291	0	6	64				
HUNK	30811	broad.mit.edu	37	21	33296887	33296887	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:33296887C>T	ENST00000270112.2	+	2	729	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I123I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ACCCCAATATCACTCAGCTCC	0.478																																							uc002yph.2		NA																	1	Substitution - coding silent(1)		lung(1)	stomach(1)|skin(1)	2						c.(367-369)ATC>ATT		hormonally upregulated Neu-associated kinase							68.0	63.0	65.0					21																	33296887		2203	4300	6503	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33296887C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.369C>T	21.37:g.33296887C>T							p.I123I	NM_014586	NP_055401	P57058	HUNK_HUMAN			2	729	+			123			Protein kinase.			Silent	SNP	ENST00000270112.2	37	c.369C>T	CCDS13610.1																																																																																				0.478	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		8	70	0	0	0	0.001368	0	8	70				
HUNK	30811	broad.mit.edu	37	21	33296935	33296935	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:33296935C>T	ENST00000270112.2	+	2	777	c.417C>T	c.(415-417)gtC>gtT	p.V139V		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ACTACCTGGTCATGGAGCTGT	0.532																																							uc002yph.2		NA																	0				stomach(1)|skin(1)	2						c.(415-417)GTC>GTT		hormonally upregulated Neu-associated kinase							74.0	72.0	73.0					21																	33296935		2203	4300	6503	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33296935C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.417C>T	21.37:g.33296935C>T							p.V139V	NM_014586	NP_055401	P57058	HUNK_HUMAN			2	777	+			139			Protein kinase.			Silent	SNP	ENST00000270112.2	37	c.417C>T	CCDS13610.1																																																																																				0.532	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		20	115	0	0	0	0.010504	0	20	115				
HUNK	30811	broad.mit.edu	37	21	33296974	33296974	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:33296974C>A	ENST00000270112.2	+	2	816	c.456C>A	c.(454-456)atC>atA	p.I152I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGCACAAGATCTATGAGAAGA	0.562																																							uc002yph.2		NA																	0				stomach(1)|skin(1)	2						c.(454-456)ATC>ATA		hormonally upregulated Neu-associated kinase							78.0	81.0	80.0					21																	33296974		2203	4300	6503	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33296974C>A	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.456C>A	21.37:g.33296974C>A							p.I152I	NM_014586	NP_055401	P57058	HUNK_HUMAN			2	816	+			152			Protein kinase.			Silent	SNP	ENST00000270112.2	37	c.456C>A	CCDS13610.1																																																																																				0.562	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		18	131	1	0	1.67942e-08	0.006122	2.00966e-08	18	131				
HUNK	30811	broad.mit.edu	37	21	33297031	33297031	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:33297031C>T	ENST00000270112.2	+	2	873	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GACAGCTCATCTCTGCCGTAG	0.627																																							uc002yph.2		NA																	0				stomach(1)|skin(1)	2						c.(511-513)ATC>ATT		hormonally upregulated Neu-associated kinase							67.0	71.0	70.0					21																	33297031		2203	4300	6503	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33297031C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.513C>T	21.37:g.33297031C>T							p.I171I	NM_014586	NP_055401	P57058	HUNK_HUMAN			2	873	+			171			Protein kinase.			Silent	SNP	ENST00000270112.2	37	c.513C>T	CCDS13610.1																																																																																				0.627	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		20	130	0	0	0	0.001882	0	20	130				
IGSF5	150084	broad.mit.edu	37	21	41137706	41137706	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:41137706C>A	ENST00000380588.4	+	3	448	c.345C>A	c.(343-345)ccC>ccA	p.P115P	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	115	Ig-like V-type 1.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ATGTGGAGCCCAGTGATTCGG	0.557																																							uc002yyo.2		NA																	0					0						c.(343-345)CCC>CCA		immunoglobulin superfamily 5 like							115.0	93.0	100.0					21																	41137706		2203	4300	6503	SO:0001819	synonymous_variant	150084					integral to membrane|tight junction		g.chr21:41137706C>A		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.345C>A	21.37:g.41137706C>A							p.P115P	NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN			3	448	+		Prostate(19;5.35e-06)	115			Ig-like V-type 1.|Extracellular (Potential).			Silent	SNP	ENST00000380588.4	37	c.345C>A	CCDS33562.1																																																																																				0.557	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			15	20	1	0	2.31682e-05	0.003163	2.58057e-05	15	20				
COL18A1	80781	broad.mit.edu	37	21	46875678	46875678	+	Silent	SNP	C	C	T	rs537048520		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:46875678C>T	ENST00000359759.4	+	1	255	c.234C>T	c.(232-234)ggC>ggT	p.G78G	COL18A1_ENST00000355480.5_Silent_p.G78G|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	78					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CAGCCCCTGGCAGCCCTGAGC	0.672																																							uc011afs.1		NA																	0				central_nervous_system(1)	1						c.(232-234)GGC>GGT		alpha 1 type XVIII collagen isoform 3 precursor							44.0	58.0	53.0					21																	46875678		2075	4186	6261	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46875678C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.234C>T	21.37:g.46875678C>T						COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.G78G	p.G78G	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	1	255	+			78					A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.234C>T																																																																																					0.672	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			21	116	0	0	0	0.008871	0	21	116				
OR11H1	81061	broad.mit.edu	37	22	16449042	16449042	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr22:16449042T>G	ENST00000252835.4	-	1	763	c.763A>C	c.(763-765)Acc>Ccc	p.T255P		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	255						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(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GACCCACAGGTAGAGAAGGCC	0.438																																							uc011agd.1		NA																	0					0						c.(763-765)ACC>CCC		olfactory receptor, family 11, subfamily H,							89.0	89.0	89.0					22																	16449042		2199	4294	6493	SO:0001583	missense	81061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr22:16449042T>G	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.763A>C	22.37:g.16449042T>G	ENSP00000252835:p.Thr255Pro						p.T255P	NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)	1	763	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)	255			Cytoplasmic (Potential).		Q6IEX0|Q96R32	Missense_Mutation	SNP	ENST00000252835.4	37	c.763A>C	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	t	15.14	2.744867	0.49151	.	.	ENSG00000130538	ENST00000252835	T	0.42131	0.98	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000618	T	0.72526	0.3471	H	0.97983	4.12	0.28113	N	0.930931	D	0.89917	1.0	D	0.97110	1.0	T	0.66468	-0.5916	10	0.87932	D	0	.	7.8049	0.29195	0.0:0.0:0.0:1.0	.	255	Q8NG94	O11H1_HUMAN	P	255	ENSP00000252835:T255P	ENSP00000252835:T255P	T	-	1	0	OR11H1	14829042	1.000000	0.71417	0.945000	0.38365	0.835000	0.47333	5.263000	0.65507	0.826000	0.34661	0.302000	0.19851	ACC		0.438	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		56	97	0	0	0	0.00361	0	56	97				
CLTCL1	8218	broad.mit.edu	37	22	19175557	19175557	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr22:19175557C>T	ENST00000263200.10	-	28	4442	c.4370G>A	c.(4369-4371)aGc>aAc	p.S1457N	CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000353891.5_Missense_Mutation_p.S1457N|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S1457N	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1457	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GTTGTTGTGGCTCTGGACTGA	0.582			T	?	ALCL																																		uc002zpb.2		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(4369-4371)AGC>AAC		clathrin, heavy polypeptide-like 1 isoform 1							192.0	195.0	194.0					22																	19175557		2062	4209	6271	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19175557C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4370G>A	22.37:g.19175557C>T	ENSP00000445677:p.Ser1457Asn					CLTCL1_uc011agv.1_Missense_Mutation_p.S1457N|CLTCL1_uc011agw.1_Missense_Mutation_p.S1436N|CLTCL1_uc011agt.1_Missense_Mutation_p.S248N|CLTCL1_uc011agu.1_Intron	p.S1457N	NM_007098	NP_009029	P53675	CLH2_HUMAN			29	4445	-	Colorectal(54;0.0993)		1457			Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.4370G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	6.335	0.429868	0.11987	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.19394	2.15;2.15;2.15	3.9	1.15	0.20763	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.190291	0.44688	N	0.000435	T	0.07908	0.0198	N	0.11892	0.195	0.29544	N	0.851842	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.32955	-0.9887	10	0.08179	T	0.78	-11.3029	5.0189	0.14350	0.0:0.3592:0.0:0.6408	.	1457;1457	P53675-2;P53675	.;CLH2_HUMAN	N	1457	ENSP00000439662:S1457N;ENSP00000445677:S1457N;ENSP00000441158:S1457N	ENSP00000445677:S1457N	S	-	2	0	CLTCL1	17555557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.293000	0.33353	0.602000	0.29896	0.655000	0.94253	AGC		0.582	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		38	138	0	0	0	0.007835	0	38	138				
MN1	4330	broad.mit.edu	37	22	28196322	28196322	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr22:28196322G>T	ENST00000302326.4	-	1	1164	c.210C>A	c.(208-210)ttC>ttA	p.F70L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	70					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCGCGCGTGGAAGCCGTAGG	0.692			T	ETV6	"""AML, meningioma"""																																		uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(208-210)TTC>TTA		meningioma  1							27.0	31.0	30.0					22																	28196322		1962	4120	6082	SO:0001583	missense	4330						binding	g.chr22:28196322G>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.210C>A	22.37:g.28196322G>T	ENSP00000304956:p.Phe70Leu						p.F70L	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	1165	-			70					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.210C>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267387	0.40095	.	.	ENSG00000169184	ENST00000302326	T	0.69306	-0.39	4.87	1.45	0.22620	.	0.061459	0.64402	D	0.000004	T	0.51584	0.1683	N	0.24115	0.695	0.31600	N	0.652784	D	0.55605	0.972	P	0.45639	0.488	T	0.59144	-0.7509	10	0.48119	T	0.1	-9.2788	8.883	0.35387	0.2668:0.0:0.7332:0.0	.	70	Q10571	MN1_HUMAN	L	70	ENSP00000304956:F70L	ENSP00000304956:F70L	F	-	3	2	MN1	26526322	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	0.934000	0.28910	0.513000	0.28278	0.561000	0.74099	TTC		0.692	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		14	34	1	0	9.31168e-06	0.001855	1.06085e-05	14	34				
RFPL3	10738	broad.mit.edu	37	22	32754369	32754369	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr22:32754369A>G	ENST00000249007.4	+	1	516	c.311A>G	c.(310-312)aAg>aGg	p.K104R	RFPL3_ENST00000397468.1_Missense_Mutation_p.K75R|RFPL3_ENST00000382088.3_Missense_Mutation_p.K75R|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	104							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TCCCACATCAAGGAACTGGAG	0.522																																							uc003amj.2		NA																	0				ovary(1)	1						c.(310-312)AAG>AGG		ret finger protein-like 3 isoform 1							98.0	98.0	98.0					22																	32754369		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32754369A>G	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.311A>G	22.37:g.32754369A>G	ENSP00000249007:p.Lys104Arg					RFPL3_uc010gwn.2_Missense_Mutation_p.K75R	p.K104R	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN			1	516	+			104					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.311A>G	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120845	0.37436	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.48836	0.8;0.8;0.8	0.664	-0.821	0.10822	Zinc finger, RING/FYVE/PHD-type (1);RDM domain, Ret finger protein-like (1);	.	.	.	.	T	0.55162	0.1903	L	0.54323	1.7	0.09310	N	0.999999	D	0.60575	0.988	D	0.68943	0.961	T	0.44862	-0.9300	8	0.42905	T	0.14	.	.	.	.	.	104	O75679	RFPL3_HUMAN	R	75;104;75	ENSP00000380609:K75R;ENSP00000249007:K104R;ENSP00000371520:K75R	ENSP00000249007:K104R	K	+	2	0	RFPL3	31084369	0.925000	0.31364	0.041000	0.18516	0.439000	0.31926	0.673000	0.25203	-0.379000	0.07906	0.163000	0.16589	AAG		0.522	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		21	88	0	0	0	0.008871	0	21	88				
SYN3	8224	broad.mit.edu	37	22	32914151	32914151	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr22:32914151T>C	ENST00000358763.2	-	13	1731	c.1489A>G	c.(1489-1491)Aac>Gac	p.N497D	SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.N497D	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	497	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GAGGCCTGGTTTGGGGAGCTG	0.667																																							uc003amx.2		NA																	0				skin(1)	1						c.(1489-1491)AAC>GAC		synapsin III isoform IIIa							61.0	70.0	67.0					22																	32914151		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32914151T>C	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1489A>G	22.37:g.32914151T>C	ENSP00000351614:p.Asn497Asp					SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Missense_Mutation_p.N496D|SYN3_uc011amc.1_Missense_Mutation_p.N131D	p.N497D	NM_003490	NP_003481	O14994	SYN3_HUMAN			12	1648	-			497			J; Pro-rich linker.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.1489A>G	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587753	0.46110	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154	T;T	0.29655	1.56;1.56	5.97	4.94	0.65067	.	0.620714	0.17661	N	0.166329	T	0.17916	0.0430	N	0.22421	0.69	0.32244	N	0.572336	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.016	T	0.16394	-1.0404	10	0.16896	T	0.51	-10.868	7.1099	0.25384	0.0:0.2041:0.0:0.7959	.	496;497	Q17R54;O14994	.;SYN3_HUMAN	D	497;497;103	ENSP00000351614:N497D;ENSP00000330219:N497D	ENSP00000330219:N497D	N	-	1	0	SYN3	31244151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.101000	0.41787	2.288000	0.76882	0.533000	0.62120	AAC		0.667	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			10	97	0	0	0	0.001855	0	10	97				
TUBGCP6	85378	broad.mit.edu	37	22	50660931	50660931	+	Silent	SNP	C	C	T	rs541224216	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr22:50660931C>T	ENST00000248846.5	-	14	2465	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L	TUBGCP6_ENST00000439308.2_Silent_p.L787L|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	787					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGCACTCTCCAGTCGGTGCC	0.572													C|||	4	0.000798722	0.0	0.0	5008	,	,		19327	0.0		0.0	False		,,,				2504	0.0041						uc003bkb.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2359-2361)CTG>CTA		tubulin, gamma complex associated protein 6							76.0	71.0	72.0					22																	50660931		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50660931C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.2361G>A	22.37:g.50660931C>T						TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Silent_p.L779L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'UTR	p.L787L	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	14	2873	-		all_cancers(38;5.79e-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)	787					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.2361G>A	CCDS14087.1																																																																																				0.572	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		18	49	0	0	0	0.00499	0	18	49				
CHL1	10752	broad.mit.edu	37	3	396435	396435	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:396435C>A	ENST00000256509.2	+	11	1788	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V	CHL1_ENST00000397491.2_Silent_p.V366V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGTGGAGAGTCAATGGCTCCC	0.463																																							uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(1096-1098)GTC>GTA		cell adhesion molecule with homology to L1CAM							101.0	89.0	93.0					3																	396435		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:396435C>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1146C>A	3.37:g.396435C>A						CHL1_uc003bot.2_Silent_p.V382V|CHL1_uc003bow.1_Silent_p.V366V|CHL1_uc011asi.1_Silent_p.V382V	p.V366V	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	10	1369	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	366			Ig-like C2-type 4.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.1098C>A	CCDS2556.1																																																																																				0.463	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		17	49	1	0	2.48551e-13	0.00499	3.36116e-13	17	49				
MTMR14	64419	broad.mit.edu	37	3	9719695	9719695	+	Missense_Mutation	SNP	C	C	T	rs372538745		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:9719695C>T	ENST00000296003.4	+	9	972	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	MTMR14_ENST00000351233.5_Missense_Mutation_p.P284S|MTMR14_ENST00000353332.5_Missense_Mutation_p.P284S|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	284					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATTGAGCATCCCCGACTTCCT	0.557																																							uc003brz.2		NA																	0				skin(1)	1						c.(850-852)CCC>TCC		jumpy isoform 2		C	SER/PRO,SER/PRO,SER/PRO	1,4013		0,1,2006	110.0	102.0	105.0		850,850,850	6.0	1.0	3		105	0,8348		0,0,4174	no	missense,missense,missense	MTMR14	NM_001077525.2,NM_001077526.2,NM_022485.4	74,74,74	0,1,6180	TT,TC,CC		0.0,0.0249,0.0081	probably-damaging,probably-damaging,probably-damaging	284/651,284/599,284/539	9719695	1,12361	2007	4174	6181	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9719695C>T	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.850C>T	3.37:g.9719695C>T	ENSP00000296003:p.Pro284Ser					MTMR14_uc003bsa.2_Missense_Mutation_p.P284S|MTMR14_uc003bsb.2_Missense_Mutation_p.P284S|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_RNA	p.P284S	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN			9	974	+	Medulloblastoma(99;0.227)		284					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.850C>T	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676976	0.88445	2.49E-4	0.0	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048;ENST00000431250	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.973	D	0.95708	0.8755	10	0.87932	D	0	0.3934	20.428	0.99075	0.0:1.0:0.0:0.0	.	284;284;284	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	S	284;284;284;284;56	ENSP00000323462:P284S;ENSP00000296003:P284S;ENSP00000334070:P284S;ENSP00000388746:P56S	ENSP00000296003:P284S	P	+	1	0	MTMR14	9694695	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	6.995000	0.76257	2.837000	0.97791	0.655000	0.94253	CCC		0.557	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		18	53	0	0	0	0.001882	0	18	53				
CNOT10	25904	broad.mit.edu	37	3	32746360	32746360	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:32746360G>A	ENST00000328834.5	+	3	491	c.175G>A	c.(175-177)Gat>Aat	p.D59N	CNOT10_ENST00000331889.6_Missense_Mutation_p.D59N|CNOT10_ENST00000538368.1_De_novo_Start_InFrame|CNOT10_ENST00000454516.2_Missense_Mutation_p.D119N	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	59					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TATAAACAAAGATGATTATAA	0.313																																							uc003cfc.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(175-177)GAT>AAT		CCR4-NOT transcription complex, subunit 10							52.0	58.0	56.0					3																	32746360		2200	4285	6485	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32746360G>A	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.175G>A	3.37:g.32746360G>A	ENSP00000330060:p.Asp59Asn					CNOT10_uc011axi.1_5'UTR|CNOT10_uc003cfd.1_Missense_Mutation_p.D59N|CNOT10_uc003cfe.1_Missense_Mutation_p.D59N|CNOT10_uc010hfv.1_Intron|CNOT10_uc011axj.1_Missense_Mutation_p.D119N|CNOT10_uc010hfw.1_5'UTR	p.D59N	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN			3	430	+			59					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.175G>A	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055022	0.36277	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000454516	T;T;T	0.73789	-0.78;-0.78;-0.78	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);	0.046593	0.85682	D	0.000000	T	0.54581	0.1867	N	0.05230	-0.09	0.80722	D	1	B;B;B;B	0.20052	0.003;0.003;0.041;0.005	B;B;B;B	0.14578	0.005;0.005;0.011;0.002	T	0.56038	-0.8045	10	0.06236	T	0.91	-32.3479	20.3368	0.98748	0.0:0.0:1.0:0.0	.	119;59;59;59	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	N	59;59;119	ENSP00000329376:D59N;ENSP00000330060:D59N;ENSP00000399862:D119N	ENSP00000330060:D59N	D	+	1	0	CNOT10	32721364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.783000	0.99037	2.805000	0.96524	0.655000	0.94253	GAT		0.313	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		12	30	0	0	0	0.001368	0	12	30				
ARPP21	10777	broad.mit.edu	37	3	35778828	35778828	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:35778828C>A	ENST00000187397.4	+	16	2074	c.1618C>A	c.(1618-1620)Cag>Aag	p.Q540K	ARPP21_ENST00000458225.1_Missense_Mutation_p.Q506K|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q506K|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q486K|ARPP21_ENST00000444190.1_Missense_Mutation_p.Q486K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	540	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						ACCGCAGCCACAGATGGCAGG	0.647																																							uc003cgb.2		NA																	0				ovary(2)|skin(1)	3						c.(1618-1620)CAG>AAG		cyclic AMP-regulated phosphoprotein, 21 kD							25.0	27.0	26.0					3																	35778828		2200	4288	6488	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35778828C>A	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.1618C>A	3.37:g.35778828C>A	ENSP00000187397:p.Gln540Lys					ARPP21_uc003cga.2_Missense_Mutation_p.Q486K|ARPP21_uc011axy.1_Missense_Mutation_p.Q506K|ARPP21_uc003cgf.2_Missense_Mutation_p.Q341K|ARPP21_uc003cgg.2_Missense_Mutation_p.Q28K	p.Q540K	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			16	1882	+			540			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1618C>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476806	0.63849	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.07;1.03	5.91	5.91	0.95273	.	0.533225	0.18414	N	0.141975	T	0.47135	0.1429	M	0.66939	2.045	0.50467	D	0.999877	B;B;B;B	0.19200	0.026;0.007;0.034;0.026	B;B;B;B	0.23419	0.046;0.022;0.031;0.046	T	0.37337	-0.9710	10	0.20046	T	0.44	5.0E-4	20.3053	0.98627	0.0:1.0:0.0:0.0	.	506;28;540;486	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	K	506;486;486;540;506	ENSP00000414351:Q506K;ENSP00000337792:Q486K;ENSP00000405276:Q486K;ENSP00000187397:Q540K;ENSP00000412326:Q506K	ENSP00000187397:Q540K	Q	+	1	0	ARPP21	35753832	0.978000	0.34361	0.051000	0.19133	0.956000	0.61745	6.817000	0.75252	2.808000	0.96608	0.655000	0.94253	CAG		0.647	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		7	28	1	0	0.00307968	0.00308	0.00319493	7	28				
DCLK3	85443	broad.mit.edu	37	3	36779106	36779106	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:36779106C>A	ENST00000416516.2	-	2	1535	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	349						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ACATTGGCGGCAATGATGCCC	0.582																																							uc003cgi.2		NA																	0				lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(1045-1047)GCC>TCC		doublecortin-like kinase 3							81.0	81.0	81.0					3																	36779106		2057	4197	6254	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779106C>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1045G>T	3.37:g.36779106C>A	ENSP00000394484:p.Ala349Ser						p.A349S	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			2	1536	-			349						Missense_Mutation	SNP	ENST00000416516.2	37	c.1045G>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	0.473	-0.883350	0.02530	.	.	ENSG00000163673	ENST00000416516	T	0.39229	1.09	5.64	-4.98	0.03019	Protein kinase-like domain (1);	1.274700	0.06044	N	0.655359	T	0.19248	0.0462	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29731	-1.0002	10	0.06494	T	0.89	.	5.938	0.19177	0.3545:0.1224:0.0:0.523	.	349	Q9C098	DCLK3_HUMAN	S	349	ENSP00000394484:A349S	ENSP00000394484:A349S	A	-	1	0	DCLK3	36754110	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.491000	0.06474	-0.804000	0.04410	0.655000	0.94253	GCC		0.582	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		13	81	1	0	0.00010058	0.001368	0.000109107	13	81				
TRANK1	9881	broad.mit.edu	37	3	36874113	36874113	+	Missense_Mutation	SNP	G	G	C	rs578243519		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:36874113G>C	ENST00000429976.2	-	21	7076	c.6829C>G	c.(6829-6831)Cgc>Ggc	p.R2277G	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1727G|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1727G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2277							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CGGCGGTTGCGTGCGCTTTCA	0.478																																							uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(5179-5181)CGC>GGC		lupus brain antigen 1							62.0	62.0	62.0					3																	36874113		1879	4103	5982	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874113G>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6829C>G	3.37:g.36874113G>C	ENSP00000416168:p.Arg2277Gly						p.R1727G	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	5481	-			2277					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.5179C>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	4.819	0.152208	0.09185	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.34072	1.38;1.79;1.38	5.05	2.22	0.28083	.	0.131761	0.33477	N	0.004876	T	0.19927	0.0479	L	0.29908	0.895	0.09310	N	1	B	0.28350	0.208	B	0.23716	0.048	T	0.13124	-1.0521	10	0.41790	T	0.15	.	2.4536	0.04524	0.1371:0.2216:0.4204:0.2209	.	2277	O15050	TRNK1_HUMAN	G	1727;2277;1727	ENSP00000416826:R1727G;ENSP00000416168:R2277G;ENSP00000301807:R1727G	ENSP00000301807:R1727G	R	-	1	0	TRANK1	36849117	0.000000	0.05858	0.008000	0.14137	0.619000	0.37552	0.940000	0.28992	0.232000	0.21100	0.561000	0.74099	CGC		0.478	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		18	32	0	0	0	0.00499	0	18	32				
RHOA	387	broad.mit.edu	37	3	49405963	49405963	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:49405963C>T	ENST00000418115.1	-	3	559	c.175G>A	c.(175-177)Gac>Aac	p.D59N	RHOA_ENST00000422781.1_Missense_Mutation_p.D59N|RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000454011.2_Intron	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	59					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAGCTGTGTCCCACAAAGCC	0.463																																							uc003cwu.2		NA																	0				ovary(2)	2						c.(175-177)GAC>AAC		ras homolog gene family, member A precursor	Atorvastatin(DB01076)|Simvastatin(DB00641)						104.0	100.0	101.0					3																	49405963		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49405963C>T	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.175G>A	3.37:g.49405963C>T	ENSP00000400175:p.Asp59Asn					RHOA_uc010hku.2_5'UTR	p.D59N	NM_001664	NP_001655	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	451	-			59			GTP (By similarity).		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.175G>A	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515087	0.96402	.	.	ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425	D;D;D	0.86230	-2.09;-2.09;-2.09	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96513	0.8862	H	0.98577	4.27	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.97776	1.0229	10	0.87932	D	0	.	18.6067	0.91268	0.0:1.0:0.0:0.0	.	59	P61586	RHOA_HUMAN	N	59	ENSP00000400175:D59N;ENSP00000413587:D59N;ENSP00000408402:D59N	ENSP00000400175:D59N	D	-	1	0	RHOA	49380967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.675000	0.84002	2.749000	0.94314	0.551000	0.68910	GAC		0.463	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		8	48	0	0	0	0.00308	0	8	48				
GLT8D1	55830	broad.mit.edu	37	3	52731792	52731792	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:52731792G>A	ENST00000407584.3	-	5	1124	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	GLT8D1_ENST00000266014.5_Missense_Mutation_p.R92C|GLT8D1_ENST00000491606.1_Missense_Mutation_p.R92C|GLT8D1_ENST00000478968.2_Missense_Mutation_p.R92C|GLT8D1_ENST00000463827.1_5'Flank|GLT8D1_ENST00000394783.3_Missense_Mutation_p.R92C	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	92						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACATTGGAGCGAGTGTTGTGC	0.468																																							uc003dfi.3		NA																	0					0						c.(274-276)CGC>TGC		glycosyltransferase 8 domain containing 1							148.0	134.0	138.0					3																	52731792		2203	4300	6503	SO:0001583	missense	55830					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups	g.chr3:52731792G>A	AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"""Glycosyltransferase family 8 domain containing"""	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.274C>T	3.37:g.52731792G>A	ENSP00000385730:p.Arg92Cys					GLT8D1_uc003dfj.2_Missense_Mutation_p.R92C|GLT8D1_uc003dfk.2_Missense_Mutation_p.R92C|GLT8D1_uc003dfl.2_Missense_Mutation_p.R92C|GLT8D1_uc003dfm.2_Missense_Mutation_p.R92C|GLT8D1_uc003dfn.2_Missense_Mutation_p.R92C|GLT8D1_uc003dfo.1_Missense_Mutation_p.R92C	p.R92C	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	4	413	-			92			Lumenal (Potential).		Q7Z4D1|Q8N2J6|Q9P0I5	Missense_Mutation	SNP	ENST00000407584.3	37	c.274C>T	CCDS2862.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617184	0.87359	.	.	ENSG00000016864	ENST00000478968;ENST00000394783;ENST00000407584;ENST00000266014;ENST00000491606;ENST00000479553;ENST00000489119	T;T;T;T;T;T;T	0.63096	0.93;0.93;0.93;0.93;0.93;0.93;-0.02	5.89	5.89	0.94794	.	0.277841	0.40222	N	0.001141	T	0.66858	0.2832	L	0.39898	1.24	0.52501	D	0.999956	D;D	0.89917	1.0;0.998	P;P	0.60789	0.879;0.761	T	0.68051	-0.5511	10	0.62326	D	0.03	-0.544	10.1929	0.43037	0.0:0.1217:0.6934:0.1849	.	92;92	Q68CQ7-2;Q68CQ7	.;GL8D1_HUMAN	C	92	ENSP00000419612:R92C;ENSP00000378263:R92C;ENSP00000385730:R92C;ENSP00000266014:R92C;ENSP00000418853:R92C;ENSP00000417713:R92C;ENSP00000417551:R92C	ENSP00000266014:R92C	R	-	1	0	GLT8D1	52706832	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.159000	0.50731	2.793000	0.96121	0.655000	0.94253	CGC		0.468	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352065.3	NM_152932		25	51	0	0	0	0.003954	0	25	51				
FOXP1	27086	broad.mit.edu	37	3	71021723	71021723	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:71021723C>A	ENST00000318789.4	-	18	2160	c.1635G>T	c.(1633-1635)agG>agT	p.R545S	FOXP1_ENST00000498215.1_Missense_Mutation_p.R545S|FOXP1_ENST00000491238.1_Missense_Mutation_p.R547S|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000484350.1_Missense_Mutation_p.R469S|FOXP1_ENST00000493089.1_Missense_Mutation_p.R544S|FOXP1_ENST00000475937.1_Missense_Mutation_p.R545S	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	545					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCTTTTGTGGCCTTCGTTTTT	0.433			T	PAX5	ALL																																		uc003dol.2		NA		Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				ovary(1)|lung(1)	2						c.(1633-1635)AGG>AGT		forkhead box P1 isoform 1							866.0	683.0	745.0					3																	71021723		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71021723C>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1635G>T	3.37:g.71021723C>A	ENSP00000318902:p.Arg545Ser					FOXP1_uc003dom.2_Missense_Mutation_p.R469S|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.R544S|FOXP1_uc003dop.2_Missense_Mutation_p.R545S|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.R445S|FOXP1_uc003doj.2_Missense_Mutation_p.R445S|FOXP1_uc003dok.2_Missense_Mutation_p.R358S|FOXP1_uc003dor.1_Missense_Mutation_p.R322S	p.R545S	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	14	1958	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	545			Fork-head.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.1635G>T	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748097	0.69533	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350	D;D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	5.87	5.87	0.94306	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;0.989;1.0;1.0	D;D;D;D	0.91635	0.999;0.985;0.999;0.999	D	0.97712	1.0191	10	0.87932	D	0	.	13.7487	0.62894	0.0:0.9299:0.0:0.0701	.	544;544;469;545	B3KV70;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	S	545;357;545;441;547;544;545;469	ENSP00000318902:R545S;ENSP00000419393:R545S;ENSP00000418225:R441S;ENSP00000420736:R547S;ENSP00000418524:R544S;ENSP00000418102:R545S;ENSP00000417857:R469S	ENSP00000318902:R545S	R	-	3	2	FOXP1	71104413	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.051000	0.71072	2.941000	0.99782	0.655000	0.94253	AGG		0.433	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		20	68	1	0	0.000229342	0.001882	0.000247709	20	68				
EPHA6	285220	broad.mit.edu	37	3	96706499	96706499	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:96706499G>T	ENST00000389672.5	+	3	814	c.776G>T	c.(775-777)cGc>cTc	p.R259L	EPHA6_ENST00000542517.1_Missense_Mutation_p.R165L|EPHA6_ENST00000470610.2_Missense_Mutation_p.R259L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	165						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGGGTGATCGCATCCTCAAA	0.443																																							uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(775-777)CGC>CTC		EPH receptor A6 isoform a							203.0	209.0	207.0					3																	96706499		1900	4141	6041	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706499G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.776G>T	3.37:g.96706499G>T	ENSP00000374323:p.Arg259Leu					EPHA6_uc003drp.1_Missense_Mutation_p.R259L	p.R259L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	819	+			164			Ephrin-binding.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.776G>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638805	0.87760	.	.	ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517	T;T;T	0.03860	3.78;3.78;3.78	5.48	5.48	0.80851	.	0.000000	0.64402	U	0.000013	T	0.30665	0.0772	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.24476	-1.0159	10	0.87932	D	0	.	18.3424	0.90309	0.0:0.0:1.0:0.0	.	259;259	B3KS12;E7EU71	.;.	L	259;259;165	ENSP00000420598:R259L;ENSP00000374323:R259L;ENSP00000439758:R165L	ENSP00000374323:R259L	R	+	2	0	EPHA6	98189189	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.554000	0.86153	0.655000	0.94253	CGC		0.443	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		66	153	1	0	7.73544e-29	0.00361	1.24919e-28	66	153				
EPHA6	285220	broad.mit.edu	37	3	96706738	96706738	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:96706738A>T	ENST00000389672.5	+	3	1053	c.1015A>T	c.(1015-1017)Act>Tct	p.T339S	EPHA6_ENST00000542517.1_Missense_Mutation_p.T245S|EPHA6_ENST00000470610.2_Missense_Mutation_p.T339S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	245	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGAGCGTGACACTCCTAAACT	0.473																																							uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(1015-1017)ACT>TCT		EPH receptor A6 isoform a							137.0	134.0	135.0					3																	96706738		1974	4167	6141	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706738A>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1015A>T	3.37:g.96706738A>T	ENSP00000374323:p.Thr339Ser					EPHA6_uc003drp.1_Missense_Mutation_p.T339S	p.T339S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	1058	+			244			Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1015A>T	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.06|11.06	1.526566|1.526566	0.27299|0.27299	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000506569|ENST00000470610;ENST00000389672;ENST00000542517	.|T;T;T	.|0.74209	.|5.08;-0.82;4.51	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.848909	.|0.10062	.|U	.|0.720865	T|T	0.77745|0.77745	0.4176|0.4176	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.79784	.|0.993;0.99	T|T	0.67035|0.67035	-0.5772|-0.5772	5|10	.|0.05351	.|T	.|0.99	.|.	14.4932|14.4932	0.67665|0.67665	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|339;339	.|B3KS12;E7EU71	.|.;.	L|S	283|339;339;245	.|ENSP00000420598:T339S;ENSP00000374323:T339S;ENSP00000439758:T245S	.|ENSP00000374323:T339S	H|T	+|+	2|1	0|0	EPHA6|EPHA6	98189428|98189428	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	6.276000|6.276000	0.72601|0.72601	2.062000|2.062000	0.61559|0.61559	0.528000|0.528000	0.53228|0.53228	CAC|ACT		0.473	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		23	74	0	0	0	0.002299	0	23	74				
RHO	6010	broad.mit.edu	37	3	129251193	129251193	+	Silent	SNP	C	C	T	rs371192803		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:129251193C>T	ENST00000296271.3	+	3	724	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	210	Retinal chromophore binding. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGTTCGTGGTCCACTTCACCA	0.567																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	Esophageal Squamous(118;214 1623 30842 43234 46940)	uc003emt.2		NA																	0					0						c.(628-630)GTC>GTT		rhodopsin	Halothane(DB01159)	C		0,4406		0,0,2203	297.0	242.0	261.0		630	2.8	1.0	3		261	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RHO	NM_000539.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		210/349	129251193	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129251193C>T	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.630C>T	3.37:g.129251193C>T							p.V210V	NM_000539	NP_000530	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	3	725	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	210			Retinal chromophore binding (By similarity).|Helical; Name=5; (Potential).		Q16414|Q2M249	Silent	SNP	ENST00000296271.3	37	c.630C>T	CCDS3063.1																																																																																				0.567	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		22	67	0	0	0	0.001882	0	22	67				
COL6A6	131873	broad.mit.edu	37	3	130279226	130279226	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:130279226G>T	ENST00000358511.6	+	1	49	c.18G>T	c.(16-18)ttG>ttT	p.L6F	COL6A6_ENST00000453409.2_Missense_Mutation_p.L6F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	6					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						TGCTAATTTTGTTCCTCGTGA	0.279																																							uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(16-18)TTG>TTT		collagen type VI alpha 6 precursor							138.0	124.0	128.0					3																	130279226		1806	4066	5872	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130279226G>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.18G>T	3.37:g.130279226G>T	ENSP00000351310:p.Leu6Phe						p.L6F	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			1	49	+			6					A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.18G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	2.972	-0.212149	0.06140	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.90261	-2.62;-2.64	5.22	-0.244	0.13031	.	0.390344	0.19277	N	0.118241	D	0.83261	0.5216	L	0.47016	1.485	0.18873	N	0.999981	B	0.06786	0.001	B	0.08055	0.003	T	0.66980	-0.5786	10	0.22109	T	0.4	.	7.183	0.25784	0.1619:0.3911:0.447:0.0	.	6	A6NMZ7	CO6A6_HUMAN	F	6	ENSP00000351310:L6F;ENSP00000399236:L6F	ENSP00000351310:L6F	L	+	3	2	COL6A6	131761916	0.938000	0.31826	0.443000	0.26883	0.018000	0.09664	-0.069000	0.11542	0.014000	0.14944	-0.149000	0.13747	TTG		0.279	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		9	22	1	0	1.76689e-08	0.006214	2.10928e-08	9	22				
NLGN1	22871	broad.mit.edu	37	3	173998981	173998981	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:173998981C>G	ENST00000457714.1	+	7	2789	c.2360C>G	c.(2359-2361)aCt>aGt	p.T787S	NLGN1_ENST00000361589.4_Missense_Mutation_p.T787S|NLGN1_ENST00000401917.3_Missense_Mutation_p.T827S|NLGN1_ENST00000545397.1_Missense_Mutation_p.T787S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	804					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATTCCCAACACTATACCAGGG	0.483																																							uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(2359-2361)ACT>AGT		neuroligin 1							178.0	161.0	167.0					3																	173998981		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998981C>G	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2360C>G	3.37:g.173998981C>G	ENSP00000392500:p.Thr787Ser					NLGN1_uc003fip.1_Missense_Mutation_p.T787S	p.T787S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2783	+	Ovarian(172;0.0025)		804			Cytoplasmic (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2360C>G	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	1.633	-0.518496	0.04171	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.15	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	N	0.13140	0.3	0.49582	D	0.999801	B	0.20988	0.05	B	0.27076	0.076	T	0.42616	-0.9441	10	0.07482	T	0.82	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	787	Q8N2Q7-2	.	S	787;787;787;827	ENSP00000392500:T787S;ENSP00000354541:T787S;ENSP00000441108:T787S;ENSP00000385750:T827S	ENSP00000354541:T787S	T	+	2	0	NLGN1	175481675	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.752000	0.62176	2.793000	0.96121	0.591000	0.81541	ACT		0.483	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		19	51	0	0	0	0.010504	0	19	51				
PEX5L	51555	broad.mit.edu	37	3	179525601	179525602	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:179525601_179525602GG>TT	ENST00000467460.1	-	14	1866_1867	c.1536_1537CC>AA	c.(1534-1539)aaCCgc>aaAAgc	p.512_513NR>KS	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.320_321NR>KS|PEX5L_ENST00000464614.1_Missense_Mutation_p.404_405NR>KS|PEX5L_ENST00000472994.1_Missense_Mutation_p.453_454NR>KS|PEX5L_ENST00000263962.8_Missense_Mutation_p.510_511NR>KS|PEX5L_ENST00000485199.1_Missense_Mutation_p.477_478NR>KS|PEX5L_ENST00000465751.1_Missense_Mutation_p.488_489NR>KS|PEX5L_ENST00000392649.3_Missense_Mutation_p.404_405NR>KS|PEX5L_ENST00000476138.1_Missense_Mutation_p.469_470NR>KS	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	512					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCCCCGAGGCGGTTCCATAGTG	0.52																																							uc003fki.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(1534-1539)AACCGC>AAAAGC		peroxisomal biogenesis factor 5-like																																				SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179525601_179525602GG>TT	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1536_1537delinsTT	3.37:g.179525601_179525602delinsTT	ENSP00000419975:p.N512_R513delinsKS					PEX5L_uc011bqd.1_Missense_Mutation_p.469_470NR>KS|PEX5L_uc011bqe.1_Missense_Mutation_p.320_321NR>KS|PEX5L_uc011bqf.1_Missense_Mutation_p.404_405NR>KS|PEX5L_uc003fkj.1_Missense_Mutation_p.477_478NR>KS|PEX5L_uc010hxd.1_Missense_Mutation_p.510_511NR>KS|PEX5L_uc011bqg.1_Missense_Mutation_p.488_489NR>KS|PEX5L_uc011bqh.1_Missense_Mutation_p.453_454NR>KS	p.512_513NR>KS	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		14	1666_1667	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		512_513			TPR 4.		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	DNP	ENST00000467460.1	37	c.1536_1537CC>AA	CCDS3236.1																																																																																				0.520	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		30	100	0	0	0	0.004672	0	30	100				
EIF4G1	1981	broad.mit.edu	37	3	184043403	184043403	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:184043403G>A	ENST00000346169.2	+	20	3368	c.3097G>A	c.(3097-3099)Ggc>Agc	p.G1033S	EIF4G1_ENST00000441154.1_Missense_Mutation_p.G870S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G837S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G946S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G947S|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000342981.4_Missense_Mutation_p.G1034S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G1040S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G994S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G869S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G993S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G1040S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G1040S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G1033S|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G838S	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1033	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAGCGTCGGGGCGGTCCTCC	0.547																																							uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3097-3099)GGC>AGC		eukaryotic translation initiation factor 4							76.0	79.0	78.0					3																	184043403		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184043403G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3097G>A	3.37:g.184043403G>A	ENSP00000316879:p.Gly1033Ser					EIF4G1_uc003fnt.2_Missense_Mutation_p.G744S|EIF4G1_uc003fnq.2_Missense_Mutation_p.G946S|EIF4G1_uc003fnr.2_Missense_Mutation_p.G869S|EIF4G1_uc010hxx.2_Missense_Mutation_p.G1040S|EIF4G1_uc003fns.2_Missense_Mutation_p.G993S|EIF4G1_uc010hxy.2_Missense_Mutation_p.G1040S|EIF4G1_uc003fnv.3_Missense_Mutation_p.G1034S|EIF4G1_uc003fnu.3_Missense_Mutation_p.G1033S|EIF4G1_uc003fnw.2_Missense_Mutation_p.G1040S|EIF4G1_uc003fnx.2_Missense_Mutation_p.G838S|EIF4G1_uc003fny.3_Missense_Mutation_p.G837S|SNORD66_uc003fnz.2_5'Flank	p.G1033S	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		20	3295	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1033			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3097G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771565	0.49680	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.05996	3.64;3.62;3.54;3.62;3.4;3.62;3.54;3.63;3.64;3.62;3.61;3.4;3.36;3.36	5.53	5.53	0.82687	.	0.129522	0.51477	D	0.000084	T	0.09730	0.0239	M	0.70275	2.135	0.52501	D	0.999951	P;B;B	0.38582	0.638;0.129;0.129	B;B;B	0.36666	0.23;0.028;0.041	T	0.01583	-1.1319	10	0.49607	T	0.09	-11.1746	10.5734	0.45212	0.1172:0.0:0.8828:0.0	.	1040;1034;1033	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	S	1033;993;946;1040;869;1040;947;1034;1033;1040;994;870;838;837	ENSP00000316879:G1033S;ENSP00000391935:G993S;ENSP00000376320:G946S;ENSP00000371767:G1040S;ENSP00000317600:G869S;ENSP00000338020:G1040S;ENSP00000407682:G947S;ENSP00000343450:G1034S;ENSP00000323737:G1033S;ENSP00000416255:G1040S;ENSP00000395974:G994S;ENSP00000399858:G870S;ENSP00000411826:G838S;ENSP00000404754:G837S	ENSP00000323737:G1033S	G	+	1	0	EIF4G1	185526097	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.705000	0.61838	2.618000	0.88619	0.561000	0.74099	GGC		0.547	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		15	97	0	0	0	0.003163	0	15	97				
CHRD	8646	broad.mit.edu	37	3	184099529	184099529	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:184099529G>A	ENST00000204604.1	+	5	783	c.537G>A	c.(535-537)ccG>ccA	p.P179P	CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000348986.3_Silent_p.P179P|CHRD_ENST00000450923.1_Silent_p.P179P|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	179	CHRD 1. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACAGGGCCGAGGTCGCAGG	0.647																																							uc003fov.2		NA																	0				skin(2)|ovary(1)	3						c.(535-537)CCG>CCA		chordin precursor							16.0	20.0	19.0					3																	184099529		2198	4299	6497	SO:0001819	synonymous_variant	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184099529G>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.537G>A	3.37:g.184099529G>A						CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Silent_p.P179P|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'Flank	p.P179P	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	783	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		179			CHRD 1.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	ENST00000204604.1	37	c.537G>A	CCDS3266.1																																																																																				0.647	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		4	28	0	0	0	0.001168	0	4	28				
LSG1	55341	broad.mit.edu	37	3	194387265	194387265	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:194387265C>T	ENST00000265245.5	-	3	577	c.263G>A	c.(262-264)aGa>aAa	p.R88K	AC046143.1_ENST00000408791.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	88					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TAGTCCAGTTCTAGCCTCAGC	0.383																																							uc003fui.2		NA																	0					0						c.(262-264)AGA>AAA		large subunit GTPase 1							82.0	82.0	82.0					3																	194387265		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194387265C>T		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.263G>A	3.37:g.194387265C>T	ENSP00000265245:p.Arg88Lys						p.R88K	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	3	578	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		88					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.263G>A	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	C	6.608	0.480560	0.12581	.	.	ENSG00000041802	ENST00000265245	T	0.46451	0.87	5.34	3.54	0.40534	.	0.197230	0.51477	N	0.000095	T	0.26412	0.0645	L	0.28400	0.85	0.53005	D	0.999965	B	0.09022	0.002	B	0.09377	0.004	T	0.05767	-1.0865	10	0.08837	T	0.75	.	10.083	0.42401	0.0:0.7853:0.1382:0.0765	.	88	Q9H089	LSG1_HUMAN	K	88	ENSP00000265245:R88K	ENSP00000265245:R88K	R	-	2	0	LSG1	195868554	1.000000	0.71417	0.999000	0.59377	0.479000	0.33129	5.658000	0.68003	0.632000	0.30432	-0.165000	0.13383	AGA		0.383	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		10	62	0	0	0	0.006214	0	10	62				
IQCG	84223	broad.mit.edu	37	3	197616455	197616456	+	Missense_Mutation	DNP	TT	TT	CA			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:197616455_197616456TT>CA	ENST00000265239.6	-	12	1751_1752	c.1327_1328AA>TG	c.(1327-1329)AAg>TGg	p.K443W	IQCG_ENST00000455191.1_Missense_Mutation_p.K443W	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	443						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACTTGGTCACTTCTTCTTGCCT	0.426																																							uc003fyo.2		NA																	0					0						c.(1327-1329)AAG>TGG		IQ motif containing G																																				SO:0001583	missense	84223							g.chr3:197616455_197616456TT>CA	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1327_1328delinsCA	3.37:g.197616455_197616456delinsCA	ENSP00000265239:p.Lys443Trp					IQCG_uc003fyn.2_Missense_Mutation_p.K345W|IQCG_uc003fyp.2_Missense_Mutation_p.K443W|IQCG_uc003fym.2_Missense_Mutation_p.K144W	p.K443W	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	11	1473_1474	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		443					Q9BST2|Q9HAG8	Missense_Mutation	DNP	ENST00000265239.6	37	c.1327_1328AA>TG	CCDS3331.1																																																																																				0.426	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		38	96	0	0	0	0.004672	0	38	96				
OTOP1	133060	broad.mit.edu	37	4	4190545	4190545	+	Silent	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:4190545G>C	ENST00000296358.4	-	6	1848	c.1824C>G	c.(1822-1824)gtC>gtG	p.V608V		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	608					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCTTACAATAGACCTCAAAGA	0.463																																							uc003ghp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1822-1824)GTC>GTG		otopetrin 1							37.0	36.0	37.0					4																	4190545		2203	4300	6503	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4190545G>C	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1824C>G	4.37:g.4190545G>C							p.V608V	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	6	1854	-			608					A1L476	Silent	SNP	ENST00000296358.4	37	c.1824C>G	CCDS3372.1																																																																																				0.463	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		16	39	0	0	0	0.007413	0	16	39				
CPZ	8532	broad.mit.edu	37	4	8605750	8605750	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:8605750T>G	ENST00000360986.4	+	4	718	c.544T>G	c.(544-546)Ttc>Gtc	p.F182V	CPZ_ENST00000382480.2_Missense_Mutation_p.F45V|CPZ_ENST00000315782.6_Missense_Mutation_p.F171V|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	182					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCCGCCCACCTTCATCCGCTT	0.701																																							uc003glm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(544-546)TTC>GTC		carboxypeptidase Z isoform 1							30.0	24.0	26.0					4																	8605750		2176	4262	6438	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605750T>G	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.544T>G	4.37:g.8605750T>G	ENSP00000354255:p.Phe182Val					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.F45V|CPZ_uc003glo.2_Missense_Mutation_p.F171V|CPZ_uc003glp.2_RNA	p.F182V	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			4	670	+			182					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.544T>G	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	T	5.098	0.203804	0.09704	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.03358	3.96;3.96;3.96	3.86	2.67	0.31697	.	1.332290	0.05181	N	0.501288	T	0.05410	0.0143	L	0.45581	1.43	0.37628	D	0.921559	B;B	0.17852	0.024;0.018	B;B	0.15052	0.012;0.008	T	0.23440	-1.0188	10	0.29301	T	0.29	-11.2049	8.6651	0.34116	0.0:0.0935:0.0:0.9065	.	171;182	Q66K79-2;Q66K79	.;CBPZ_HUMAN	V	182;45;171	ENSP00000354255:F182V;ENSP00000371920:F45V;ENSP00000315074:F171V	ENSP00000315074:F171V	F	+	1	0	CPZ	8656650	0.149000	0.22717	0.463000	0.27130	0.166000	0.22503	0.813000	0.27225	0.551000	0.29008	0.454000	0.30748	TTC		0.701	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		8	36	0	0	0	0.008291	0	8	36				
HS3ST1	9957	broad.mit.edu	37	4	11401447	11401447	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:11401447G>T	ENST00000002596.5	-	2	1357	c.183C>A	c.(181-183)ggC>ggA	p.G61G		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	61					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCTTGCGCACGCCGATGATGA	0.677																																							uc003gmq.2		NA																	0				skin(1)	1						c.(181-183)GGC>GGA		heparan sulfate D-glucosaminyl							37.0	32.0	34.0					4																	11401447		2202	4298	6500	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401447G>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.183C>A	4.37:g.11401447G>T							p.G61G	NM_005114	NP_005105	O14792	HS3S1_HUMAN			2	506	-			61					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.183C>A	CCDS3408.1																																																																																				0.677	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		23	38	1	0	1.64293e-13	0.00333	2.24609e-13	23	38				
BOD1L1	259282	broad.mit.edu	37	4	13604380	13604380	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:13604380C>A	ENST00000040738.5	-	10	4279	c.4144G>T	c.(4144-4146)Gta>Tta	p.V1382L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1382						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGCATGATTACCTTTCCTTGT	0.413																																							uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(4144-4146)GTA>TTA		biorientation of chromosomes in cell division							142.0	138.0	139.0					4																	13604380		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604380C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4144G>T	4.37:g.13604380C>A	ENSP00000040738:p.Val1382Leu					BOD1L_uc010idr.1_Missense_Mutation_p.V719L	p.V1382L	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	4261	-			1382					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.4144G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693076	0.30052	.	.	ENSG00000038219	ENST00000040738	T	0.07908	3.15	5.55	1.89	0.25635	.	0.564717	0.15750	N	0.246451	T	0.04998	0.0134	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41538	-0.9503	10	0.26408	T	0.33	-0.4806	5.0785	0.14644	0.1434:0.5511:0.0:0.3056	.	1382	Q8NFC6	BOD1L_HUMAN	L	1382	ENSP00000040738:V1382L	ENSP00000040738:V1382L	V	-	1	0	BOD1L	13213478	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.079000	0.11357	0.290000	0.22444	-0.137000	0.14449	GTA		0.413	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		39	61	1	0	1.67305e-13	0.00623	2.28101e-13	39	61				
FGFBP2	83888	broad.mit.edu	37	4	15964579	15964579	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:15964579C>A	ENST00000259989.6	-	1	280	c.174G>T	c.(172-174)tgG>tgT	p.W58C	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	58						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGACACGAAGCCAGACTTCTC	0.577																																							uc003gon.2		NA																	0					0						c.(172-174)TGG>TGT		killer-specific secretory protein of 37 kDa							64.0	56.0	59.0					4																	15964579		2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964579C>A	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.174G>T	4.37:g.15964579C>A	ENSP00000259989:p.Trp58Cys						p.W58C	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN			1	281	-			58						Missense_Mutation	SNP	ENST00000259989.6	37	c.174G>T	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348132	0.24426	.	.	ENSG00000137441	ENST00000259989	T	0.13778	2.56	2.98	-0.721	0.11189	.	0.821715	0.10409	U	0.678180	T	0.05547	0.0146	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.37314	-0.9711	10	0.72032	D	0.01	-0.2971	1.1253	0.01733	0.1771:0.3895:0.2089:0.2245	.	58	Q9BYJ0	FGFP2_HUMAN	C	58	ENSP00000259989:W58C	ENSP00000259989:W58C	W	-	3	0	FGFBP2	15573677	0.389000	0.25205	0.003000	0.11579	0.007000	0.05969	0.023000	0.13533	0.170000	0.19704	0.650000	0.86243	TGG		0.577	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		26	33	1	0	4.72057e-08	0.003954	5.60849e-08	26	33				
PHOX2B	8929	broad.mit.edu	37	4	41747870	41747870	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:41747870C>G	ENST00000226382.2	-	3	1258	c.899G>C	c.(898-900)aGa>aCa	p.R300T	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	300					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						ACCGTTGGGTCTTTGGAGCGA	0.687			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc003gwf.3		NA	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	Mis|F	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						c.(898-900)AGA>ACA		paired-like homeobox 2b							25.0	34.0	31.0					4																	41747870		2203	4300	6503	SO:0001583	missense	8929	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41747870C>G	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.899G>C	4.37:g.41747870C>G	ENSP00000226382:p.Arg300Thr						p.R300T	NM_003924	NP_003915	Q99453	PHX2B_HUMAN			3	1259	-			300					Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.899G>C	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232992	0.58777	.	.	ENSG00000109132	ENST00000226382	D	0.93247	-3.19	3.93	3.93	0.45458	.	0.054434	0.64402	D	0.000001	D	0.92528	0.7627	N	0.14661	0.345	0.58432	D	0.999997	D	0.57899	0.981	D	0.67231	0.95	D	0.93991	0.7267	10	0.72032	D	0.01	.	14.8458	0.70259	0.0:1.0:0.0:0.0	.	300	Q99453	PHX2B_HUMAN	T	300	ENSP00000226382:R300T	ENSP00000226382:R300T	R	-	2	0	PHOX2B	41442627	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.577000	0.74027	2.019000	0.59389	0.313000	0.20887	AGA		0.687	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			14	16	0	0	0	0.00499	0	14	16				
KCTD8	386617	broad.mit.edu	37	4	44450140	44450140	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:44450140G>T	ENST00000360029.3	-	1	684	c.401C>A	c.(400-402)gCc>gAc	p.A134D	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	134					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GAAATACTCGGCCTCGCGCAG	0.617										HNSCC(17;0.042)																													uc003gwu.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(400-402)GCC>GAC		potassium channel tetramerisation domain							23.0	21.0	22.0					4																	44450140		2183	4267	6450	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450140G>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.401C>A	4.37:g.44450140G>T	ENSP00000353129:p.Ala134Asp	HNSCC(17;0.042)					p.A134D	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	685	-			134					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.401C>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612927	0.87258	.	.	ENSG00000183783	ENST00000360029	T	0.55760	0.5	4.03	4.03	0.46877	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000001	D	0.83184	0.5199	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90474	0.4455	10	0.87932	D	0	.	15.3321	0.74223	0.0:0.0:1.0:0.0	.	134	Q6ZWB6	KCTD8_HUMAN	D	134	ENSP00000353129:A134D	ENSP00000353129:A134D	A	-	2	0	KCTD8	44144897	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.078000	0.62432	0.585000	0.79938	GCC		0.617	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			6	33	1	0	3.59834e-05	0.001168	3.94631e-05	6	33				
ATP10D	57205	broad.mit.edu	37	4	47537986	47537986	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:47537986A>T	ENST00000273859.3	+	7	1220	c.951A>T	c.(949-951)agA>agT	p.R317S	ATP10D_ENST00000504445.1_Missense_Mutation_p.R317S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	317					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TAGAAAGAAGAGCAAACACAG	0.413																																							uc003gxk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(949-951)AGA>AGT		ATPase, class V, type 10D							125.0	115.0	118.0					4																	47537986		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	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.chr4:47537986A>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.951A>T	4.37:g.47537986A>T	ENSP00000273859:p.Arg317Ser					ATP10D_uc003gxl.1_5'Flank|ATP10D_uc003gxj.3_Missense_Mutation_p.R317S	p.R317S	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			7	1115	+			317			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.951A>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844756	0.71603	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.90385	-2.66;-2.66	5.31	4.13	0.48395	ATPase, P-type, ATPase-associated domain (1);	0.116060	0.56097	D	0.000033	D	0.88526	0.6460	L	0.41573	1.285	0.29845	N	0.828875	B;P	0.37015	0.261;0.578	B;P	0.45712	0.215;0.491	D	0.86157	0.1591	10	0.56958	D	0.05	-21.9183	10.1028	0.42515	0.9209:0.0:0.079:0.0	.	317;317	Q9P241;Q6PEW3	AT10D_HUMAN;.	S	317	ENSP00000273859:R317S;ENSP00000420909:R317S	ENSP00000273859:R317S	R	+	3	2	ATP10D	47232743	0.979000	0.34478	1.000000	0.80357	0.961000	0.63080	0.332000	0.19751	2.129000	0.65627	0.460000	0.39030	AGA		0.413	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		34	55	0	0	0	0.004878	0	34	55				
POLR2B	5431	broad.mit.edu	37	4	57889625	57889625	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:57889625G>C	ENST00000381227.1	+	20	3058	c.2645G>C	c.(2644-2646)aGc>aCc	p.S882T	POLR2B_ENST00000441246.2_Missense_Mutation_p.S875T|POLR2B_ENST00000431623.2_Missense_Mutation_p.S807T|POLR2B_ENST00000314595.5_Missense_Mutation_p.S882T			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	882					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GAATTGGAGAGCACCAATAGA	0.438																																							uc003hcl.1		NA																	0				ovary(2)	2						c.(2644-2646)AGC>ACC		DNA directed RNA polymerase II polypeptide B							115.0	108.0	110.0					4																	57889625		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57889625G>C		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2645G>C	4.37:g.57889625G>C	ENSP00000370625:p.Ser882Thr					POLR2B_uc011cae.1_Missense_Mutation_p.S875T|POLR2B_uc011caf.1_Missense_Mutation_p.S807T|POLR2B_uc003hcm.1_Missense_Mutation_p.S375T	p.S882T	NM_000938	NP_000929	P30876	RPB2_HUMAN			19	2688	+	Glioma(25;0.08)|all_neural(26;0.181)		882					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2645G>C	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.844915	0.51164	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	6.04	6.04	0.98038	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.119263	0.85682	D	0.000000	T	0.66406	0.2786	N	0.17838	0.53	0.80722	D	1	B;B	0.22480	0.07;0.07	B;B	0.32928	0.155;0.155	T	0.59032	-0.7530	10	0.15499	T	0.54	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	807;882	C9J4M6;P30876	.;RPB2_HUMAN	T	882;807;875;882	ENSP00000370625:S882T;ENSP00000391096:S807T;ENSP00000391452:S875T;ENSP00000312735:S882T	ENSP00000312735:S882T	S	+	2	0	POLR2B	57584382	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.876000	0.87215	2.873000	0.98535	0.563000	0.77884	AGC		0.438	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		13	76	0	0	0	0.001855	0	13	76				
EPHA5	2044	broad.mit.edu	37	4	66361122	66361123	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:66361122_66361123GG>TT	ENST00000273854.3	-	4	1649_1650	c.1049_1050CC>AA	c.(1048-1050)cCC>cAA	p.P350Q	EPHA5_ENST00000354839.4_Missense_Mutation_p.P350Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.P350Q|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	350	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATGCCATTGTGGGTGGATCAGA	0.45										TSP Lung(17;0.13)																													uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1048-1050)CCC>CAA		ephrin receptor EphA5 isoform a precursor																																				SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361122_66361123GG>TT	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1049_1050delinsTT	4.37:g.66361122_66361123delinsTT	ENSP00000273854:p.Pro350Gln	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.P281Q|EPHA5_uc003hcz.2_Missense_Mutation_p.P350Q|EPHA5_uc011cah.1_Missense_Mutation_p.P350Q|EPHA5_uc011cai.1_Missense_Mutation_p.P350Q|EPHA5_uc003hda.2_Missense_Mutation_p.P350Q	p.P350Q	NM_004439	NP_004430	P54756	EPHA5_HUMAN			4	1242_1243	-			350			Extracellular (Potential).|Cys-rich.		Q7Z3F2	Missense_Mutation	DNP	ENST00000273854.3	37	c.1049_1050CC>AA	CCDS3513.1																																																																																				0.450	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		31	146	0	0	0	0.004672	0	31	146				
TMPRSS11A	339967	broad.mit.edu	37	4	68784900	68784900	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:68784900G>T	ENST00000334830.7	-	8	1498	c.752C>A	c.(751-753)cCt>cAt	p.P251H	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.P247H|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.P248H			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	251	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CATTAAGGGAGGGTTGATTTT	0.368																																					NSCLC(26;2 894 10941 14480 22546)	NSCLC(26;2 894 10941 14480 22546)	uc003hdr.1		NA																	0				skin(1)	1						c.(751-753)CCT>CAT		transmembrane protease, serine 11A isoform 1							137.0	149.0	145.0					4																	68784900		2203	4300	6503	SO:0001583	missense	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68784900G>T	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.752C>A	4.37:g.68784900G>T	ENSP00000334611:p.Pro251His					LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.P248H	p.P251H	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN			8	873	-			251			Peptidase S1.|Extracellular (Potential).		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	c.752C>A	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638616	0.67130	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.36	5.36	0.76844	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000030	D	0.90834	0.7121	L	0.38531	1.155	0.34110	D	0.66286	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93330	0.6700	10	0.72032	D	0.01	.	11.6406	0.51230	0.0:0.0:0.8225:0.1775	.	248;251	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	H	247;251;248;215	ENSP00000426911:P247H;ENSP00000334611:P251H;ENSP00000379491:P248H;ENSP00000427621:P215H	ENSP00000334611:P251H	P	-	2	0	TMPRSS11A	68467495	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.913000	0.63341	2.512000	0.84698	0.591000	0.81541	CCT		0.368	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		31	62	1	0	3.86903e-22	0.002836	5.97723e-22	31	62				
ENAM	10117	broad.mit.edu	37	4	71510165	71510165	+	Missense_Mutation	SNP	A	A	C	rs370441174		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:71510165A>C	ENST00000396073.3	+	9	3303	c.3022A>C	c.(3022-3024)Aat>Cat	p.N1008H	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1008					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAACCAGCTCAATGAAAGAAC	0.418																																							uc011caw.1		NA																	0				ovary(3)	3						c.(3022-3024)AAT>CAT		enamelin precursor							120.0	109.0	113.0					4																	71510165		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510165A>C	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3022A>C	4.37:g.71510165A>C	ENSP00000379383:p.Asn1008His						p.N1008H	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3303	+			1008					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.3022A>C	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	A	7.934	0.741392	0.15642	.	.	ENSG00000132464	ENST00000396073	T	0.35421	1.31	5.75	0.548	0.17208	.	0.671285	0.14329	N	0.326503	T	0.37972	0.1023	M	0.82517	2.595	0.09310	N	1	B	0.23650	0.089	B	0.29663	0.105	T	0.40232	-0.9574	10	0.46703	T	0.11	-1.2964	4.4805	0.11764	0.5961:0.1604:0.2435:0.0	.	1008	Q9NRM1	ENAM_HUMAN	H	1008	ENSP00000379383:N1008H	ENSP00000379383:N1008H	N	+	1	0	ENAM	71729029	0.005000	0.15991	0.112000	0.21494	0.757000	0.42996	1.188000	0.32102	0.095000	0.17434	-0.313000	0.08912	AAT		0.418	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		47	67	0	0	0	0.00361	0	47	67				
GC	2638	broad.mit.edu	37	4	72629540	72629540	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:72629540G>T	ENST00000273951.8	-	5	930	c.587C>A	c.(586-588)aCt>aAt	p.T196N	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.T196N|GC_ENST00000504199.1_Missense_Mutation_p.T215N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	196	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	AAAGCATACAGTTGGGCTTGC	0.358																																							uc003hge.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(586-588)ACT>AAT		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						118.0	125.0	123.0					4																	72629540		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72629540G>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.587C>A	4.37:g.72629540G>T	ENSP00000273951:p.Thr196Asn					GC_uc003hgd.2_Missense_Mutation_p.T74N|GC_uc010iie.2_Missense_Mutation_p.T196N|GC_uc010iif.2_Missense_Mutation_p.T215N	p.T196N	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		5	740	-		all_hematologic(202;0.107)	196			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.587C>A	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	G	2.371	-0.344268	0.05208	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.73047	-0.71;-0.71;-0.71	5.5	4.65	0.58169	.	0.114351	0.64402	D	0.000017	T	0.59783	0.2219	L	0.39566	1.225	0.23277	N	0.997999	B;B	0.12630	0.002;0.006	B;B	0.17979	0.008;0.02	T	0.49698	-0.8912	10	0.32370	T	0.25	.	9.9609	0.41695	0.0727:0.0:0.7871:0.1402	.	215;196	D6RAK8;D6RF35	.;.	N	196;215;196	ENSP00000273951:T196N;ENSP00000421725:T215N;ENSP00000426683:T196N	ENSP00000273951:T196N	T	-	2	0	GC	72848404	0.293000	0.24371	0.373000	0.26003	0.010000	0.07245	0.491000	0.22419	1.426000	0.47256	0.655000	0.94253	ACT		0.358	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			41	78	1	0	2.95478e-19	0.00874	4.42773e-19	41	78				
ANKRD17	26057	broad.mit.edu	37	4	73984516	73984516	+	Silent	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:73984516T>C	ENST00000358602.4	-	22	4193	c.4077A>G	c.(4075-4077)ctA>ctG	p.L1359L	ANKRD17_ENST00000509867.2_Silent_p.L1246L|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Silent_p.L1108L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1359					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTTGCTGCTAGCCACAATG	0.428																																							uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(4075-4077)CTA>CTG		ankyrin repeat domain protein 17 isoform a							187.0	168.0	175.0					4																	73984516		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73984516T>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4077A>G	4.37:g.73984516T>C						ANKRD17_uc003hgo.2_Silent_p.L1246L|ANKRD17_uc003hgq.2_Silent_p.L1108L|ANKRD17_uc003hgr.2_Silent_p.L1358L|ANKRD17_uc011cbd.1_Silent_p.L924L	p.L1359L	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	4194	-	Breast(15;0.000295)		1359			ANK 24.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.4077A>G	CCDS34004.1																																																																																				0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		75	114	0	0	0	0.00361	0	75	114				
NUDT9	53343	broad.mit.edu	37	4	88356226	88356226	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:88356226G>A	ENST00000302174.4	+	2	525	c.201G>A	c.(199-201)acG>acA	p.T67T	NUDT9_ENST00000473942.1_Silent_p.T17T	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	67					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		AGGCTCGGACGTCTCCTTACC	0.443																																							uc003hqq.2		NA																	0					0						c.(199-201)ACG>ACA		nudix-type motif 9 isoform a							84.0	80.0	82.0					4																	88356226		2203	4300	6503	SO:0001819	synonymous_variant	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88356226G>A	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"""Nudix motif containing"""	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.201G>A	4.37:g.88356226G>A						NUDT9_uc003hqr.2_Silent_p.T17T|NUDT9_uc010ikl.2_Silent_p.T67T	p.T67T	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	2	524	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	67					Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000302174.4	37	c.201G>A	CCDS3620.1																																																																																				0.443	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			9	34	0	0	0	0.004482	0	9	34				
ABCG2	9429	broad.mit.edu	37	4	89013502	89013502	+	Missense_Mutation	SNP	C	C	T	rs199772868		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:89013502C>T	ENST00000237612.3	-	16	2397	c.1852G>A	c.(1852-1854)Ggc>Agc	p.G618S	ABCG2_ENST00000515655.1_3'UTR	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	618	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	AGATCGATGCCCTGCTTTACC	0.393																																							uc003hrg.2		NA																	0				central_nervous_system(1)	1						c.(1852-1854)GGC>AGC		ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						113.0	106.0	109.0					4																	89013502		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89013502C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1852G>A	4.37:g.89013502C>T	ENSP00000237612:p.Gly618Ser					ABCG2_uc003hrh.2_3'UTR|ABCG2_uc003hrf.2_Missense_Mutation_p.G486S	p.G618S	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	16	2345	-		Hepatocellular(203;0.114)	618			ABC transmembrane type-2.|Extracellular (Potential).		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.1852G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072830	0.76415	.	.	ENSG00000118777	ENST00000237612	D	0.86497	-2.13	5.25	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	M	0.79343	2.45	0.58432	D	0.999992	D	0.76494	0.999	D	0.78314	0.991	D	0.91214	0.5001	10	0.30078	T	0.28	-7.8815	13.7816	0.63085	0.0:0.9249:0.0:0.0751	.	618	Q9UNQ0	ABCG2_HUMAN	S	618	ENSP00000237612:G618S	ENSP00000237612:G618S	G	-	1	0	ABCG2	89232526	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	5.832000	0.69337	1.347000	0.45714	0.467000	0.42956	GGC		0.393	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		26	38	0	0	0	0.00632	0	26	38				
MMRN1	22915	broad.mit.edu	37	4	90874233	90874233	+	Silent	SNP	C	C	A	rs373323753		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:90874233C>A	ENST00000394980.1	+	9	3670	c.3351C>A	c.(3349-3351)atC>atA	p.I1117I	MMRN1_ENST00000264790.2_Silent_p.I1117I|MMRN1_ENST00000394981.1_Silent_p.I420I|MMRN1_ENST00000508372.1_Silent_p.I859I			Q13201	MMRN1_HUMAN	multimerin 1	1117	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTGGTCCTATCCTGTTTAATA	0.363																																							uc003hst.2		NA																	0				ovary(4)	4						c.(3349-3351)ATC>ATA		multimerin 1							111.0	114.0	113.0					4																	90874233		2203	4300	6503	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90874233C>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3351C>A	4.37:g.90874233C>A						MMRN1_uc010iku.2_Silent_p.I420I|MMRN1_uc011cds.1_Silent_p.I859I	p.I1117I	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3422	+		Hepatocellular(203;0.114)	1117			C1q.		Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.3351C>A	CCDS3635.1																																																																																				0.363	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		18	88	1	0	3.41278e-10	0.00499	4.27884e-10	18	88				
RAP1GDS1	5910	broad.mit.edu	37	4	99358165	99358165	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:99358165G>A	ENST00000408927.3	+	14	1755	c.1642G>A	c.(1642-1644)Gct>Act	p.A548T	RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A500T|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A457T|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A499T|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A548T|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A549T	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	548					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGAGAGAAGTGCTCCTGAAAT	0.353			T	NUP98	T-ALL																																		uc003htx.3		NA		Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				ovary(1)|lung(1)|breast(1)	3						c.(1642-1644)GCT>ACT		RAP1, GTP-GDP dissociation stimulator 1 isoform							126.0	120.0	122.0					4																	99358165		1855	4094	5949	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99358165G>A		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1642G>A	4.37:g.99358165G>A	ENSP00000386153:p.Ala548Thr					RAP1GDS1_uc003htw.3_Missense_Mutation_p.A549T|RAP1GDS1_uc003htv.3_Missense_Mutation_p.A548T|RAP1GDS1_uc003htz.3_Missense_Mutation_p.A499T|RAP1GDS1_uc003hty.3_Missense_Mutation_p.A500T|RAP1GDS1_uc003hua.3_Missense_Mutation_p.A457T	p.A548T	NM_001100427	NP_001093897	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	14	1832	+			548					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.1642G>A	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425472	0.96131	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.50001	0.76;2.72;0.76;0.76;0.76;0.76	5.96	5.96	0.96718	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	N	0.14661	0.345	0.80722	D	1	D;D;D;D;P;P	0.67145	0.995;0.996;0.993;0.985;0.836;0.502	P;D;D;P;B;B	0.76071	0.795;0.987;0.971;0.541;0.325;0.359	T	0.43327	-0.9398	10	0.13470	T	0.59	-10.1224	20.4082	0.99013	0.0:0.0:1.0:0.0	.	457;499;500;548;549;548	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	T	500;457;548;548;499;549	ENSP00000369503:A500T;ENSP00000264572:A457T;ENSP00000386153:A548T;ENSP00000407157:A548T;ENSP00000386223:A499T;ENSP00000340454:A549T	ENSP00000264572:A457T	A	+	1	0	RAP1GDS1	99577188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.826000	0.92034	2.814000	0.96858	0.655000	0.94253	GCT		0.353	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		20	43	0	0	0	0.007413	0	20	43				
SLC9B2	133308	broad.mit.edu	37	4	103979105	103979105	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:103979105C>A	ENST00000394785.3	-	4	926	c.295G>T	c.(295-297)Gct>Tct	p.A99S	SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.A99S|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.A99S	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	99					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										CAAACTACAGCCCACAGAAGA	0.343																																							uc003hwx.3		NA																	0					0						c.(295-297)GCT>TCT		Na+/H+ exchanger domain containing 2							130.0	136.0	134.0					4																	103979105		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103979105C>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.295G>T	4.37:g.103979105C>A	ENSP00000378265:p.Ala99Ser					NHEDC2_uc010iln.1_5'UTR|NHEDC2_uc003hwy.2_Missense_Mutation_p.A99S|NHEDC2_uc011cew.1_Intron|NHEDC2_uc011cex.1_Intron|NHEDC2_uc011cey.1_Intron	p.A99S	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)	4	1167	-			99			Helical; (Potential).		B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.295G>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995642	0.54147	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503818	T;T;T	0.26518	1.76;1.73;1.76	5.23	4.39	0.52855	.	0.074571	0.52532	D	0.000074	T	0.25938	0.0632	L	0.57536	1.79	0.48511	D	0.999664	P	0.43094	0.799	B	0.37650	0.255	T	0.04191	-1.0970	10	0.36615	T	0.2	-6.1107	14.0862	0.64957	0.0:0.9271:0.0:0.0729	.	99	Q86UD5	SL9B2_HUMAN	S	99	ENSP00000354574:A99S;ENSP00000345241:A99S;ENSP00000378265:A99S	ENSP00000345241:A99S	A	-	1	0	SLC9B2	104198554	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.693000	0.47027	1.330000	0.45394	0.591000	0.81541	GCT		0.343	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		57	111	1	0	9.40535e-28	0.00361	1.50425e-27	57	111				
SYNPO2	171024	broad.mit.edu	37	4	119978890	119978890	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:119978890G>T	ENST00000307142.4	+	5	3783	c.3587G>T	c.(3586-3588)aGg>aTg	p.R1196M	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCATGTGGAAGGCAAGAGTAT	0.458																																							uc010inb.2		NA																	0				ovary(2)	2						c.(3586-3588)AGG>ATG		synaptopodin 2 isoform a							85.0	82.0	83.0					4																	119978890		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119978890G>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3587G>T	4.37:g.119978890G>T	ENSP00000306015:p.Arg1196Met					SYNPO2_uc011cgh.1_3'UTR|SYNPO2_uc010inc.2_Missense_Mutation_p.R1066M	p.R1196M	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN			5	3783	+			Error:Variant_position_missing_in_Q9UMS6_after_alignment					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3587G>T	CCDS34054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.26|13.26	2.183540|2.183540	0.38609|0.38609	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142	.|T	.|0.11385	.|2.78	5.76|5.76	3.97|3.97	0.46021|0.46021	.|.	.|0.293130	.|0.24791	.|N	.|0.035566	T|T	0.13970|0.13970	0.0338|0.0338	N|N	0.24115|0.24115	0.695|0.695	0.23331|0.23331	N|N	0.997898|0.997898	.|D;D	.|0.60575	.|0.979;0.988	.|P;P	.|0.56514	.|0.635;0.8	T|T	0.09465|0.09465	-1.0673|-1.0673	5|9	.|.	.|.	.|.	-8.9935|-8.9935	11.2498|11.2498	0.49020|0.49020	0.1541:0.0:0.8459:0.0|0.1541:0.0:0.8459:0.0	.|.	.|1196;1196	.|B9EG60;Q9UMS6-2	.|.;.	N|M	1089|1196	.|ENSP00000306015:R1196M	.|.	K|R	+|+	3|2	2|0	SYNPO2|SYNPO2	120198338|120198338	1.000000|1.000000	0.71417|0.71417	0.040000|0.040000	0.18447|0.18447	0.339000|0.339000	0.28857|0.28857	2.288000|2.288000	0.43514|0.43514	0.737000|0.737000	0.32582|0.32582	0.655000|0.655000	0.94253|0.94253	AAG|AGG		0.458	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			32	128	1	0	3.1745e-13	0.008361	4.26974e-13	32	128				
LRBA	987	broad.mit.edu	37	4	151271175	151271175	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:151271175A>G	ENST00000357115.3	-	49	7607	c.7364T>C	c.(7363-7365)cTg>cCg	p.L2455P	LRBA_ENST00000507224.1_Missense_Mutation_p.L2444P|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.L2444P|LRBA_ENST00000535741.1_Missense_Mutation_p.L2444P	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2455	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TATTGAATTCAGATTGACAGC	0.388																																							uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(7363-7365)CTG>CCG		LPS-responsive vesicle trafficking, beach and							112.0	102.0	106.0					4																	151271175		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151271175A>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7364T>C	4.37:g.151271175A>G	ENSP00000349629:p.Leu2455Pro					LRBA_uc010ipi.2_Intron|LRBA_uc003ils.3_Missense_Mutation_p.L345P|LRBA_uc003ilt.3_Missense_Mutation_p.L1103P|LRBA_uc003ilu.3_Missense_Mutation_p.L2444P	p.L2455P	NM_006726	NP_006717	P50851	LRBA_HUMAN			49	7838	-	all_hematologic(180;0.151)		2455			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.7364T>C	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.5|22.5	4.295790|4.295790	0.81025|0.81025	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2|.	5.47|5.47	5.47|5.47	0.80525|0.80525	BEACH domain (4);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.79776|.	0.4504|.	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.997;0.991;1.0|.	D;D;D|.	0.97110|.	0.975;0.932;1.0|.	T|.	0.82731|.	-0.0312|.	10|.	0.66056|.	D|.	0.02|.	.|.	15.5387|15.5387	0.76024|0.76024	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2455;2444;345|.	P50851;P50851-2;Q68D03|.	LRBA_HUMAN;.;.|.	P|R	2444;2444;2455;2444|1097	ENSP00000446299:L2444P;ENSP00000421552:L2444P;ENSP00000349629:L2455P;ENSP00000422180:L2444P|.	ENSP00000349629:L2455P|.	L|X	-|-	2|1	0|0	LRBA|LRBA	151490625|151490625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.339000|9.339000	0.96797|0.96797	2.078000|2.078000	0.62432|0.62432	0.383000|0.383000	0.25322|0.25322	CTG|TGA		0.388	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			3	61	0	0	0	0.009096	0	3	61				
DCHS2	54798	broad.mit.edu	37	4	155191130	155191130	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:155191130C>A	ENST00000357232.4	-	19	5133	c.5134G>T	c.(5134-5136)Gac>Tac	p.D1712Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1712	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAATTGAGTCAGGAGCAAAA	0.343																																							uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(5134-5136)GAC>TAC		dachsous 2 isoform 1							75.0	75.0	75.0					4																	155191130		2203	4299	6502	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155191130C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5134G>T	4.37:g.155191130C>A	ENSP00000349768:p.Asp1712Tyr						p.D1712Y	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	19	5134	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1712			Cadherin 15.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5134G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811557	0.32053	.	.	ENSG00000197410	ENST00000357232	T	0.74737	-0.87	5.55	4.7	0.59300	Cadherin (4);Cadherin-like (1);	0.458554	0.20439	N	0.092315	D	0.85261	0.5656	H	0.94462	3.54	0.26092	N	0.98095	D	0.56287	0.975	P	0.55011	0.766	T	0.80598	-0.1311	10	0.66056	D	0.02	.	7.5738	0.27924	0.0:0.8341:0.0:0.1659	.	1712	Q6V1P9	PCD23_HUMAN	Y	1712	ENSP00000349768:D1712Y	ENSP00000349768:D1712Y	D	-	1	0	DCHS2	155410580	0.005000	0.15991	0.059000	0.19551	0.185000	0.23345	0.960000	0.29253	2.585000	0.87301	0.655000	0.94253	GAC		0.343	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		35	45	1	0	6.70999e-13	0.004289	9.00076e-13	35	45				
FGA	2243	broad.mit.edu	37	4	155505648	155505648	+	Silent	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:155505648C>G	ENST00000302053.3	-	6	2307	c.2229G>C	c.(2227-2229)cgG>cgC	p.R743R		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	743	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGAGCCTACCCGGAAGTGAT	0.522																																					NSCLC(143;340 1922 20892 22370 48145)	NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NA																	0				ovary(2)|breast(1)	3						c.(2227-2229)CGG>CGC		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						134.0	131.0	132.0					4																	155505648		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505648C>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2229G>C	4.37:g.155505648C>G							p.R743R	NM_000508	NP_000499	P02671	FIBA_HUMAN			6	2287	-	all_hematologic(180;0.215)	Renal(120;0.0458)	743			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.2229G>C	CCDS3787.1																																																																																				0.522	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		69	121	0	0	0	0.00361	0	69	121				
HAND2	9464	broad.mit.edu	37	4	174450181	174450181	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:174450181G>T	ENST00000359562.4	-	1	1199	c.260C>A	c.(259-261)gCc>gAc	p.A87D	HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000512929.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	87					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cgggggcccggcgcccggcgg	0.756																																							uc003ith.1		NA																	0				skin(1)	1						c.(259-261)GCC>GAC		basic helix-loop-helix transcription factor							7.0	8.0	8.0					4																	174450181		1862	3839	5701	SO:0001583	missense	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174450181G>T	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.260C>A	4.37:g.174450181G>T	ENSP00000352565:p.Ala87Asp					NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Intron|HAND2_uc010ire.1_Missense_Mutation_p.A87D	p.A87D	NM_021973	NP_068808	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	1198	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	87					B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	ENST00000359562.4	37	c.260C>A	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	G	5.715	0.316364	0.10789	.	.	ENSG00000164107	ENST00000359562;ENST00000535864	D	0.96745	-4.11	3.89	2.99	0.34606	.	0.429424	0.23779	N	0.044658	D	0.87220	0.6123	N	0.08118	0	0.35712	D	0.816435	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.82104	-0.0622	10	0.12430	T	0.62	-12.1874	6.0534	0.19799	0.0:0.3083:0.4504:0.2413	.	87;87	B6ECG9;P61296	.;HAND2_HUMAN	D	87;35	ENSP00000352565:A87D	ENSP00000352565:A87D	A	-	2	0	HAND2	174686756	0.930000	0.31532	1.000000	0.80357	0.834000	0.47266	1.157000	0.31724	2.002000	0.58637	0.462000	0.41574	GCC		0.756	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			8	4	1	0	0.000442599	0.006214	0.000474961	8	4				
ADAM29	11086	broad.mit.edu	37	4	175898055	175898055	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:175898055A>T	ENST00000359240.3	+	5	2049	c.1379A>T	c.(1378-1380)aAt>aTt	p.N460I	ADAM29_ENST00000514159.1_Missense_Mutation_p.N460I|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.N460I|ADAM29_ENST00000445694.1_Missense_Mutation_p.N460I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	460	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGGAGGTCAATGAATGTGAT	0.453																																					Ovarian(140;1727 1835 21805 25838 41440)	Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1378-1380)AAT>ATT		ADAM metallopeptidase domain 29 preproprotein							128.0	115.0	120.0					4																	175898055		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898055A>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1379A>T	4.37:g.175898055A>T	ENSP00000352177:p.Asn460Ile					ADAM29_uc003iud.2_Missense_Mutation_p.N460I|ADAM29_uc010irr.2_Missense_Mutation_p.N460I|ADAM29_uc011cki.1_Missense_Mutation_p.N460I	p.N460I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2049	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	460			Disintegrin.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1379A>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.380948	0.42207	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	3.69	1.22	0.21188	Blood coagulation inhibitor, Disintegrin (5);	0.389211	0.17835	U	0.160382	T	0.46386	0.1390	H	0.97415	4	0.23351	N	0.997858	D	0.76494	0.999	D	0.76575	0.988	T	0.35549	-0.9784	9	.	.	.	.	6.9997	0.24803	0.7944:0.0:0.2056:0.0	.	460	Q9UKF5	ADA29_HUMAN	I	460	ENSP00000352177:N460I;ENSP00000414544:N460I;ENSP00000384229:N460I;ENSP00000423517:N460I	.	N	+	2	0	ADAM29	176134630	0.000000	0.05858	0.035000	0.18076	0.002000	0.02628	0.587000	0.23909	0.264000	0.21851	-0.288000	0.09946	AAT		0.453	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				49	76	0	0	0	0.00361	0	49	76				
TENM3	55714	broad.mit.edu	37	4	183675600	183675600	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:183675600G>T	ENST00000511685.1	+	22	4203	c.4080G>T	c.(4078-4080)ctG>ctT	p.L1360L	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.L1360L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1360					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)										TTTATGTCCTGGATAATAATG	0.438																																							uc003ivd.1		NA																	0					0						c.(4078-4080)CTG>CTT		odz, odd Oz/ten-m homolog 3							47.0	44.0	45.0					4																	183675600		1926	4133	6059	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183675600G>T	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.4080G>T	4.37:g.183675600G>T						ODZ3_uc003ive.1_Silent_p.L773L	p.L1360L	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)	21	4117	+		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)	1360			Extracellular (Potential).|NHL 3.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.4080G>T	CCDS47165.1																																																																																				0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			9	15	1	0	1.12685e-05	0.004482	1.27505e-05	9	15				
CENPU	79682	broad.mit.edu	37	4	185623263	185623263	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:185623263G>A	ENST00000281453.5	-	10	974	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	MLF1IP_ENST00000506535.1_5'UTR|MLF1IP_ENST00000541971.1_Silent_p.L302L	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		TTCCTTTTCAGATTTGTCAAC	0.318																																							uc003iwq.2		NA																	0					0						c.(904-906)CTG>TTG		MLF1 interacting protein							97.0	93.0	94.0					4																	185623263		2201	4298	6499	SO:0001819	synonymous_variant	79682				CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr4:185623263G>A																												ENST00000281453.5:c.904C>T	4.37:g.185623263G>A						MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_Silent_p.L302L	p.L302L	NM_024629	NP_078905	Q71F23	CENPU_HUMAN		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)	10	974	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)	302			Potential.			Silent	SNP	ENST00000281453.5	37	c.904C>T	CCDS3838.1																																																																																				0.318	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2			7	16	0	0	0	0.001984	0	7	16				
FAM149A	25854	broad.mit.edu	37	4	187078778	187078778	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:187078778G>A	ENST00000356371.5	+	8	1507	c.1507G>A	c.(1507-1509)Gtt>Att	p.V503I	FAM149A_ENST00000503432.1_Missense_Mutation_p.V212I|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Missense_Mutation_p.V212I|FAM149A_ENST00000502970.1_Missense_Mutation_p.V212I|FAM149A_ENST00000389354.5_Missense_Mutation_p.V212I|FAM149A_ENST00000514153.1_Missense_Mutation_p.V212I			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	503										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GCACGTCCTCGTTCCACACGC	0.547																																							uc003iyt.3		NA																	0				breast(1)	1						c.(634-636)GTT>ATT		hypothetical protein LOC25854							72.0	80.0	77.0					4																	187078778		2203	4300	6503	SO:0001583	missense	25854							g.chr4:187078778G>A	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1507G>A	4.37:g.187078778G>A	ENSP00000348732:p.Val503Ile					FAM149A_uc011cla.1_Missense_Mutation_p.V212I|FAM149A_uc010isj.2_Missense_Mutation_p.V212I|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Missense_Mutation_p.V212I|FAM149A_uc010isl.2_Missense_Mutation_p.V212I|FAM149A_uc011clb.1_Missense_Mutation_p.V212I	p.V212I	NM_015398	NP_056213	A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	8	1213	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	503					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.634G>A		.	.	.	.	.	.	.	.	.	.	A	2.942	-0.218670	0.06101	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74	5.6	-11.2	0.00127	.	1.456450	0.03662	N	0.242747	T	0.04452	0.0122	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.0	T	0.30966	-0.9960	10	0.15952	T	0.53	0.1184	13.3758	0.60739	0.1602:0.2861:0.5537:0.0	.	503;503;212	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	I	212;503;212;212;212;212	ENSP00000426835:V212I;ENSP00000348732:V503I;ENSP00000227065:V212I;ENSP00000427155:V212I;ENSP00000424380:V212I;ENSP00000374005:V212I	ENSP00000227065:V212I	V	+	1	0	FAM149A	187315772	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.133000	0.03232	-2.974000	0.00285	-3.152000	0.00058	GTT		0.547	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		14	76	0	0	0	0.001855	0	14	76				
TRIML2	205860	broad.mit.edu	37	4	189026075	189026075	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:189026075C>G	ENST00000512729.1	-	2	425	c.51G>C	c.(49-51)caG>caC	p.Q17H	TRIML2_ENST00000502707.1_5'Flank|TRIML2_ENST00000326754.3_Missense_Mutation_p.Q17H|TRIML2_ENST00000536972.1_Missense_Mutation_p.Q67H	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	17					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCAATATTTCCTGGAATAACT	0.388																																							uc003izl.2		NA																	0				central_nervous_system(2)	2						c.(49-51)CAG>CAC		tripartite motif family-like 2							154.0	147.0	149.0					4																	189026075		2203	4299	6502	SO:0001583	missense	205860						ligase activity	g.chr4:189026075C>G	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.51G>C	4.37:g.189026075C>G	ENSP00000422581:p.Gln17His					TRIML2_uc011cle.1_Missense_Mutation_p.Q67H|TRIML2_uc011clf.1_Missense_Mutation_p.Q67H	p.Q17H	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	2	87	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	17			Potential.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.51G>C	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	6.264	0.416790	0.11870	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.62639	0.45;0.01;0.34	4.63	0.728	0.18260	.	0.582186	0.14458	N	0.318381	T	0.48484	0.1502	L	0.56340	1.77	0.18873	N	0.999987	P;B;B	0.41313	0.745;0.069;0.069	B;B;B	0.35278	0.199;0.034;0.034	T	0.44360	-0.9333	10	0.72032	D	0.01	.	4.1506	0.10237	0.0:0.5218:0.1694:0.3089	.	67;17;17	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	H	17;17;67	ENSP00000422581:Q17H;ENSP00000317498:Q17H;ENSP00000441236:Q67H	ENSP00000317498:Q17H	Q	-	3	2	TRIML2	189263069	0.379000	0.25123	0.279000	0.24732	0.279000	0.26890	0.097000	0.15168	0.090000	0.17273	-0.355000	0.07637	CAG		0.388	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		22	77	0	0	0	0.002299	0	22	77				
ICE1	23379	broad.mit.edu	37	5	5460982	5460982	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:5460982G>T	ENST00000296564.7	+	13	1757	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		512					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGCATTGAGAGATTGTCTGCC	0.448																																							uc003jdm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1534-1536)AGA>ATA		hypothetical protein LOC23379							108.0	115.0	113.0					5																	5460982		1975	4143	6118	SO:0001583	missense	23379							g.chr5:5460982G>T																												ENST00000296564.7:c.1535G>T	5.37:g.5460982G>T	ENSP00000296564:p.Arg512Ile						p.R512I	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	1757	+			512					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.1535G>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976436	0.34848	.	.	ENSG00000164151	ENST00000296564	T	0.43294	0.95	4.54	-9.08	0.00720	.	1.869530	0.02593	N	0.100224	T	0.17280	0.0415	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16867	-1.0388	10	0.52906	T	0.07	1.0117	0.5619	0.00680	0.1764:0.2175:0.2441:0.362	.	512	Q9Y2F5	K0947_HUMAN	I	512	ENSP00000296564:R512I	ENSP00000296564:R512I	R	+	2	0	KIAA0947	5513982	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-3.614000	0.00414	-2.827000	0.00341	0.305000	0.20034	AGA		0.448	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			19	77	1	0	5.3912e-06	0.006122	6.17021e-06	19	77				
PRDM9	56979	broad.mit.edu	37	5	23527510	23527510	+	Silent	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:23527510A>T	ENST00000296682.3	+	11	2495	c.2313A>T	c.(2311-2313)acA>acT	p.T771T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	771					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGACACACACAGGGGAGAAGC	0.577										HNSCC(3;0.000094)																													uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2311-2313)ACA>ACT		PR domain containing 9							64.0	76.0	72.0					5																	23527510		2182	4295	6477	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527510A>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2313A>T	5.37:g.23527510A>T		HNSCC(3;0.000094)					p.T771T	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2495	+			771					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2313A>T	CCDS43307.1																																																																																				0.577	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		22	114	0	0	0	0.00333	0	22	114				
CDH10	1008	broad.mit.edu	37	5	24487864	24487864	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:24487864C>A	ENST00000264463.4	-	12	2782	c.2275G>T	c.(2275-2277)Gac>Tac	p.D759Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	759					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGTTTTGGTCTCCTTCAGTA	0.458										HNSCC(23;0.051)																													uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(2275-2277)GAC>TAC		cadherin 10, type 2 preproprotein							161.0	159.0	160.0					5																	24487864		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487864C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2275G>T	5.37:g.24487864C>A	ENSP00000264463:p.Asp759Tyr	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.D759Y	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2607	-			759			Cytoplasmic (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2275G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148420	0.78001	.	.	ENSG00000040731	ENST00000264463	T	0.79554	-1.28	5.81	5.81	0.92471	Cadherin, cytoplasmic domain (1);	0.042856	0.85682	D	0.000000	D	0.92596	0.7648	M	0.94021	3.485	0.58432	D	0.999999	D	0.69078	0.997	D	0.72075	0.976	D	0.93860	0.7153	10	0.87932	D	0	.	19.0503	0.93041	0.0:1.0:0.0:0.0	.	759	Q9Y6N8	CAD10_HUMAN	Y	759	ENSP00000264463:D759Y	ENSP00000264463:D759Y	D	-	1	0	CDH10	24523621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.702000	0.84576	2.750000	0.94351	0.655000	0.94253	GAC		0.458	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		17	142	1	0	1.15088e-07	0.004007	1.35445e-07	17	142				
NPR3	4883	broad.mit.edu	37	5	32780843	32780843	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:32780843T>A	ENST00000265074.8	+	5	1554	c.1211T>A	c.(1210-1212)gTg>gAg	p.V404E	NPR3_ENST00000415685.2_Missense_Mutation_p.V188E|NPR3_ENST00000415167.2_Missense_Mutation_p.V404E|NPR3_ENST00000434067.2_Missense_Mutation_p.V188E|AC026703.2_ENST00000607869.1_RNA	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	404					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GCCGGGCAGGTGTCCATAGAT	0.512																																							uc003jhv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1210-1212)GTG>GAG		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						153.0	165.0	161.0					5																	32780843		2153	4267	6420	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32780843T>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1211T>A	5.37:g.32780843T>A	ENSP00000265074:p.Val404Glu					NPR3_uc010iuo.2_Missense_Mutation_p.V188E|NPR3_uc011cnz.1_Missense_Mutation_p.V188E|NPR3_uc003jhu.2_Missense_Mutation_p.V404E	p.V404E	NM_000908	NP_000899	P17342	ANPRC_HUMAN			5	1429	+			404			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1211T>A	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.028420	0.93518	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;1.43;1.43	5.65	5.65	0.86999	Extracellular ligand-binding receptor (1);	0.054376	0.64402	D	0.000001	D	0.91432	0.7296	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.991;0.993;0.993;0.993	D	0.93102	0.6509	10	0.87932	D	0	-25.2423	16.17	0.81801	0.0:0.0:0.0:1.0	.	188;188;404;404	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	E	181;188;188;404;404	ENSP00000425325:V181E;ENSP00000388408:V188E;ENSP00000402490:V188E;ENSP00000265074:V404E;ENSP00000398028:V404E	ENSP00000265074:V404E	V	+	2	0	NPR3	32816600	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.673000	0.83973	2.279000	0.76181	0.533000	0.62120	GTG		0.512	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		54	104	0	0	0	0.00361	0	54	104				
ADAMTS12	81792	broad.mit.edu	37	5	33576991	33576991	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:33576991G>A	ENST00000504830.1	-	19	3475	c.3140C>T	c.(3139-3141)gCa>gTa	p.A1047V	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A962V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1047	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A1047E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGCTGATTGCTGGAGTGCT	0.552										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3139-3141)GCA>GTA		ADAM metallopeptidase with thrombospondin type 1							141.0	135.0	137.0					5																	33576991		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576991G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3140C>T	5.37:g.33576991G>A	ENSP00000422554:p.Ala1047Val	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.A962V	p.A1047V	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3303	-			1047			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3140C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	3.569	-0.087996	0.07097	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59502	0.26;0.26	5.08	3.21	0.36854	.	0.931548	0.09099	N	0.848747	T	0.39545	0.1082	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.25950	-1.0117	10	0.30078	T	0.28	.	4.1349	0.10166	0.2346:0.1907:0.5747:0.0	.	962;1047	P58397-3;P58397	.;ATS12_HUMAN	V	1047;962	ENSP00000422554:A1047V;ENSP00000344847:A962V	ENSP00000344847:A962V	A	-	2	0	ADAMTS12	33612748	0.000000	0.05858	0.004000	0.12327	0.096000	0.18686	0.191000	0.17076	0.656000	0.30886	0.655000	0.94253	GCA		0.552	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		4	52	0	0	0	0.009096	0	4	52				
ADAMTS12	81792	broad.mit.edu	37	5	33624341	33624341	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:33624341C>A	ENST00000504830.1	-	14	2473	c.2138G>T	c.(2137-2139)gGa>gTa	p.G713V	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	713	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATTACCAGATCCTTCCTTCTG	0.443										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2137-2139)GGA>GTA		ADAM metallopeptidase with thrombospondin type 1							69.0	68.0	68.0					5																	33624341		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33624341C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2138G>T	5.37:g.33624341C>A	ENSP00000422554:p.Gly713Val	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.G713V	NM_030955	NP_112217	P58397	ATS12_HUMAN			14	2301	-			713			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2138G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	c	25.9	4.682114	0.88542	.	.	ENSG00000151388	ENST00000504830	T	0.51817	0.69	5.86	5.86	0.93980	ADAM-TS Spacer 1 (1);	0.101562	0.64402	D	0.000002	T	0.76047	0.3933	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78633	-0.2128	10	0.72032	D	0.01	.	20.5678	0.99360	0.0:1.0:0.0:0.0	.	713	P58397	ATS12_HUMAN	V	713	ENSP00000422554:G713V	ENSP00000422554:G713V	G	-	2	0	ADAMTS12	33660098	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.857000	0.62939	2.937000	0.99478	0.651000	0.88453	GGA		0.443	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		15	84	1	0	3.45872e-05	0.004007	3.84388e-05	15	84				
ADAMTS12	81792	broad.mit.edu	37	5	33751555	33751556	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:33751555_33751556CC>AA	ENST00000504830.1	-	3	922_923	c.587_588GG>TT	c.(586-588)aGG>aTT	p.R196I	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R196I|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.R196I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	196					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTTCTGCCTCCTGTAAACGAT	0.465										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(586-588)AGG>ATT		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33751555_33751556CC>AA	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.587_588delinsAA	5.37:g.33751555_33751556delinsAA	ENSP00000422554:p.Arg196Ile	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.R196I|ADAMTS12_uc003jib.1_Missense_Mutation_p.R196I	p.R196I	NM_030955	NP_112217	P58397	ATS12_HUMAN			3	750_751	-			196					A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	DNP	ENST00000504830.1	37	c.587_588GG>TT	CCDS34140.1																																																																																				0.465	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		21	72	0	0	0	0.004672	0	21	72				
HCN1	348980	broad.mit.edu	37	5	45262698	45262698	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:45262698C>T	ENST00000303230.4	-	8	2055	c.1998G>A	c.(1996-1998)ccG>ccA	p.P666P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	666					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGTGTACACCGGTGGAGATT	0.572																																							uc003jok.2		NA																	0				ovary(1)	1						c.(1996-1998)CCG>CCA		hyperpolarization activated cyclic							150.0	146.0	147.0					5																	45262698		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262698C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1998G>A	5.37:g.45262698C>T							p.P666P	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2023	-			666			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.1998G>A	CCDS3952.1																																																																																				0.572	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		4	49	0	0	0	0.009096	0	4	49				
PELO	53918	broad.mit.edu	37	5	52096935	52096935	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:52096935A>G	ENST00000274311.2	+	2	1692	c.707A>G	c.(706-708)aAc>aGc	p.N236S	PELO_ENST00000506949.1_Intron|ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	236					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				CTCCTGGAAAACCGGTCCAAA	0.453																																							uc003jos.2		NA																	0					0						c.(706-708)AAC>AGC		pelota homolog							47.0	50.0	49.0					5																	52096935		2176	4253	6429	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096935A>G		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.707A>G	5.37:g.52096935A>G	ENSP00000274311:p.Asn236Ser					ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron	p.N236S	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN			2	1692	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	236					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.707A>G	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325606	0.60743	.	.	ENSG00000152684	ENST00000274311	T	0.46451	0.87	5.14	5.14	0.70334	eRF1 domain 2 (1);	0.000000	0.85682	U	0.000000	T	0.48786	0.1519	M	0.74546	2.27	0.80722	D	1	P	0.42456	0.78	P	0.45232	0.474	T	0.45818	-0.9235	10	0.19590	T	0.45	-21.7194	14.7793	0.69754	1.0:0.0:0.0:0.0	.	236	Q9BRX2	PELO_HUMAN	S	236	ENSP00000274311:N236S	ENSP00000274311:N236S	N	+	2	0	PELO	52132692	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.215000	0.89762	2.153000	0.67306	0.460000	0.39030	AAC		0.453	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		6	68	0	0	0	0.001984	0	6	68				
MAP1B	4131	broad.mit.edu	37	5	71495083	71495083	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:71495083C>T	ENST00000296755.7	+	5	6199	c.5901C>T	c.(5899-5901)ccC>ccT	p.P1967P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1967					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.P1967P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCAGCCCCCCCGAAGTGAGTG	0.478																																					Melanoma(17;367 822 11631 31730 47712)	Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(5899-5901)CCC>CCT		microtubule-associated protein 1B							68.0	74.0	72.0					5																	71495083		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495083C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901C>T	5.37:g.71495083C>T						MAP1B_uc010iyw.1_Silent_p.P1984P|MAP1B_uc010iyx.1_Silent_p.P1841P|MAP1B_uc010iyy.1_Silent_p.P1841P	p.P1967P	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6142	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1967			MAP1B 6.		A2BDK5	Silent	SNP	ENST00000296755.7	37	c.5901C>T	CCDS4012.1																																																																																				0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		17	114	0	0	0	0.00499	0	17	114				
IQGAP2	10788	broad.mit.edu	37	5	75886333	75886333	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:75886333G>A	ENST00000274364.6	+	8	1038	c.741G>A	c.(739-741)gtG>gtA	p.V247V	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	247					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAACTTTAGTGGATGACAACC	0.378																																							uc003kek.2		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(739-741)GTG>GTA		IQ motif containing GTPase activating protein 2							85.0	84.0	84.0					5																	75886333		2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75886333G>A	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.741G>A	5.37:g.75886333G>A							p.V247V	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	8	963	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	247					A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.741G>A	CCDS34188.1																																																																																				0.378	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		28	28	0	0	0	0.00632	0	28	28				
CMYA5	202333	broad.mit.edu	37	5	79026485	79026485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:79026485G>T	ENST00000446378.2	+	2	1928	c.1897G>T	c.(1897-1899)Gaa>Taa	p.E633*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	633	Glu-rich.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTGTCAGAAGAAGAGAATGA	0.468																																							uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(1897-1899)GAA>TAA		cardiomyopathy associated 5							95.0	93.0	94.0					5																	79026485		1951	4128	6079	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79026485G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1897G>T	5.37:g.79026485G>T	ENSP00000394770:p.Glu633*						p.E633*	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	1969	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	633			Glu-rich.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.1897G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127567	0.94473	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.28	4.42	0.53409	.	0.126422	0.36066	N	0.002802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.9317	0.47222	0.0875:0.0:0.9125:0.0	.	.	.	.	X	633	.	ENSP00000394770:E633X	E	+	1	0	CMYA5	79062241	0.042000	0.20092	0.133000	0.22050	0.215000	0.24574	1.780000	0.38634	1.240000	0.43803	0.655000	0.94253	GAA		0.468	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		37	40	1	0	2.20474e-14	0.003755	3.06452e-14	37	40				
VCAN	1462	broad.mit.edu	37	5	82808047	82808047	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:82808047G>A	ENST00000265077.3	+	6	1439	c.874G>A	c.(874-876)Gac>Aac	p.D292N	VCAN_ENST00000512590.2_Missense_Mutation_p.D244N|VCAN_ENST00000513984.1_Missense_Mutation_p.D292N|VCAN_ENST00000343200.5_Missense_Mutation_p.D292N|VCAN_ENST00000502527.2_Missense_Mutation_p.D292N|VCAN_ENST00000342785.4_Missense_Mutation_p.D292N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	292	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAACGGCTTTGACCAGTGCGA	0.597																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(874-876)GAC>AAC		versican isoform 1 precursor							82.0	71.0	75.0					5																	82808047		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82808047G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.874G>A	5.37:g.82808047G>A	ENSP00000265077:p.Asp292Asn					VCAN_uc003kij.3_Missense_Mutation_p.D292N|VCAN_uc010jau.2_Missense_Mutation_p.D292N|VCAN_uc003kik.3_Missense_Mutation_p.D292N|VCAN_uc003kih.3_Missense_Mutation_p.D292N	p.D292N	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	6	1230	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	292			Link 2.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.874G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303033	0.60195	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78	5.49	4.61	0.57282	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.106868	0.41294	D	0.000910	T	0.31071	0.0785	M	0.62016	1.91	0.47476	D	0.999439	P;D;D;D;P	0.71674	0.953;0.965;0.972;0.998;0.799	P;P;P;D;P	0.80764	0.813;0.805;0.673;0.994;0.608	T	0.03993	-1.0986	10	0.62326	D	0.03	.	16.2656	0.82577	0.0:0.133:0.867:0.0	.	292;292;292;292;292	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	N	292;292;292;244;292;292;292	ENSP00000265077:D292N;ENSP00000340062:D292N;ENSP00000342768:D292N;ENSP00000425959:D244N;ENSP00000426251:D292N;ENSP00000426715:D292N;ENSP00000421362:D292N	ENSP00000265077:D292N	D	+	1	0	VCAN	82843803	1.000000	0.71417	0.867000	0.34043	0.012000	0.07955	6.287000	0.72671	1.296000	0.44742	-0.300000	0.09419	GAC		0.597	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		5	23	0	0	0	0.000602	0	5	23				
VCAN	1462	broad.mit.edu	37	5	82834788	82834788	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:82834788C>A	ENST00000265077.3	+	8	6531	c.5966C>A	c.(5965-5967)cCc>cAc	p.P1989H	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P1002H|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1989	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCAGAAGGACCCAGTAGCACC	0.512																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(5965-5967)CCC>CAC		versican isoform 1 precursor							106.0	96.0	100.0					5																	82834788		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82834788C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5966C>A	5.37:g.82834788C>A	ENSP00000265077:p.Pro1989His					VCAN_uc003kij.3_Missense_Mutation_p.P1002H|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P653H	p.P1989H	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	6322	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1989			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.5966C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961200	0.34565	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.85955	-2.02;-2.05;3.06	5.97	5.09	0.68999	.	0.424226	0.22729	N	0.056359	D	0.88343	0.6411	M	0.71581	2.175	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.61592	0.891;0.817	T	0.80030	-0.1553	10	0.36615	T	0.2	.	5.7615	0.18203	0.1395:0.6503:0.135:0.0751	.	1002;1989	P13611-2;P13611	.;CSPG2_HUMAN	H	1989;1002;1002	ENSP00000265077:P1989H;ENSP00000340062:P1002H;ENSP00000426251:P1002H	ENSP00000265077:P1989H	P	+	2	0	VCAN	82870544	0.001000	0.12720	0.007000	0.13788	0.303000	0.27691	0.644000	0.24766	1.507000	0.48752	0.591000	0.81541	CCC		0.512	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		30	43	1	0	6.38683e-12	0.008361	8.36491e-12	30	43				
VCAN	1462	broad.mit.edu	37	5	82836357	82836357	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:82836357A>T	ENST00000265077.3	+	8	8100	c.7535A>T	c.(7534-7536)tAt>tTt	p.Y2512F	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.Y1525F|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2512	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACAGTGTCATATGAGAGGTCC	0.428																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(7534-7536)TAT>TTT		versican isoform 1 precursor							61.0	61.0	61.0					5																	82836357		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82836357A>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7535A>T	5.37:g.82836357A>T	ENSP00000265077:p.Tyr2512Phe					VCAN_uc003kij.3_Missense_Mutation_p.Y1525F|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.Y1176F	p.Y2512F	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	7891	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2512			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.7535A>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	9.484	1.098837	0.20552	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.39229	1.09;1.09	6.08	0.589	0.17452	.	0.457306	0.20641	N	0.088411	T	0.32912	0.0845	L	0.56769	1.78	0.09310	N	0.999999	B;B	0.17667	0.023;0.013	B;B	0.17433	0.018;0.012	T	0.29212	-1.0019	10	0.11794	T	0.64	.	9.8964	0.41320	0.4917:0.4059:0.0:0.1024	.	1525;2512	P13611-2;P13611	.;CSPG2_HUMAN	F	2512;1525	ENSP00000265077:Y2512F;ENSP00000340062:Y1525F	ENSP00000265077:Y2512F	Y	+	2	0	VCAN	82872113	0.000000	0.05858	0.025000	0.17156	0.911000	0.54048	-0.003000	0.12901	0.503000	0.28060	0.482000	0.46254	TAT		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		11	62	0	0	0	0.008291	0	11	62				
PCDHA7	56141	broad.mit.edu	37	5	140215287	140215287	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:140215287G>T	ENST00000525929.1	+	1	1319	c.1319G>T	c.(1318-1320)aGc>aTc	p.S440I	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S440I|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	440	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(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACTGCTAGCGTGTCCGTG	0.667																																					NSCLC(160;258 2013 5070 22440 28951)	NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(1318-1320)AGC>ATC		protocadherin alpha 7 isoform 1 precursor							78.0	82.0	81.0					5																	140215287		2203	4299	6502	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215287G>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1319G>T	5.37:g.140215287G>T	ENSP00000436426:p.Ser440Ile					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_uc011dac.1_Missense_Mutation_p.S440I	p.S440I	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1319	+			440			Cadherin 4.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1319G>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	4.695	0.129184	0.08981	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01838	4.61;4.61	4.04	2.16	0.27623	Cadherin (5);Cadherin-like (1);	0.208216	0.22669	U	0.057096	T	0.03095	0.0091	L	0.28014	0.82	0.09310	N	1	B;B	0.25563	0.012;0.129	B;B	0.40165	0.056;0.321	T	0.41520	-0.9504	10	0.56958	D	0.05	.	9.3087	0.37891	0.0896:0.5427:0.3678:0.0	.	440;440	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	I	440	ENSP00000436426:S440I;ENSP00000367365:S440I	ENSP00000367365:S440I	S	+	2	0	PCDHA7	140195471	0.000000	0.05858	0.685000	0.30070	0.227000	0.25037	-0.764000	0.04735	0.259000	0.21709	0.305000	0.20034	AGC		0.667	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		73	71	1	0	5.22007e-41	0.00361	8.80005e-41	73	71				
PCDHA8	56140	broad.mit.edu	37	5	140222376	140222376	+	Silent	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:140222376G>C	ENST00000531613.1	+	1	1470	c.1470G>C	c.(1468-1470)gtG>gtC	p.V490V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.V490V|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	490	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)			ACGCGCTGGTGTCCTACTCGC	0.662																																							uc003lhs.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1468-1470)GTG>GTC		protocadherin alpha 8 isoform 1 precursor							53.0	61.0	58.0					5																	140222376		2195	4264	6459	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222376G>C	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.1470G>C	5.37:g.140222376G>C						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_Silent_p.V490V	p.V490V	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1470	+			490			Cadherin 5.|Extracellular (Potential).		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1470G>C	CCDS54919.1																																																																																				0.662	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		58	37	0	0	0	0.00361	0	58	37				
PCDHB3	56132	broad.mit.edu	37	5	140482425	140482425	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:140482425C>A	ENST00000231130.2	+	1	2192	c.2192C>A	c.(2191-2193)cCc>cAc	p.P731H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	731					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGAGGGCCCCTTTCCAGGG	0.652																																							uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2191-2193)CCC>CAC		protocadherin beta 3 precursor							24.0	29.0	27.0					5																	140482425		2178	4232	6410	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482425C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2192C>A	5.37:g.140482425C>A	ENSP00000231130:p.Pro731His					uc003lin.2_5'Flank	p.P731H	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2192	+			731			Cytoplasmic (Potential).		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2192C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	3.878	-0.026536	0.07589	.	.	ENSG00000113205	ENST00000231130	T	0.51071	0.72	4.33	-8.54	0.00912	.	.	.	.	.	T	0.20941	0.0504	N	0.11845	0.185	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38373	-0.9664	9	0.09084	T	0.74	.	10.3572	0.43972	0.3369:0.5891:0.0739:0.0	.	731	Q9Y5E6	PCDB3_HUMAN	H	731	ENSP00000231130:P731H	ENSP00000231130:P731H	P	+	2	0	PCDHB3	140462609	0.000000	0.05858	0.328000	0.25416	0.115000	0.19883	-3.325000	0.00511	-1.089000	0.03073	-0.500000	0.04577	CCC		0.652	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		66	63	1	0	1.04318e-46	0.00361	1.77661e-46	66	63				
PCDHB5	26167	broad.mit.edu	37	5	140516563	140516563	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:140516563G>T	ENST00000231134.5	+	1	1764	c.1547G>T	c.(1546-1548)aGg>aTg	p.R516M		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	516	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGCCCTCAGGTCGCTGGAC	0.701																																							uc003liq.2		NA																	0				skin(3)|ovary(2)	5						c.(1546-1548)AGG>ATG		protocadherin beta 5 precursor							72.0	74.0	74.0					5																	140516563		2203	4298	6501	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516563G>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1547G>T	5.37:g.140516563G>T	ENSP00000231134:p.Arg516Met						p.R516M	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1764	+			516			Extracellular (Potential).|Cadherin 5.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1547G>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595303	0.28445	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.01767	4.65	4.59	2.75	0.32379	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.09158	0.0226	M	0.80982	2.52	0.09310	N	1	D	0.57257	0.979	D	0.68943	0.961	T	0.05517	-1.0880	9	0.87932	D	0	.	9.5934	0.39559	0.0805:0.1428:0.7767:0.0	.	516	Q9Y5E4	PCDB5_HUMAN	M	516;300	ENSP00000231134:R516M	ENSP00000231134:R516M	R	+	2	0	PCDHB5	140496747	0.000000	0.05858	0.007000	0.13788	0.248000	0.25809	0.884000	0.28214	0.470000	0.27294	0.430000	0.28490	AGG		0.701	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		62	99	1	0	5.22007e-41	0.00361	8.80005e-41	62	99				
PCDHB10	56126	broad.mit.edu	37	5	140569117	140569117	+	5'Flank	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:140569117C>T	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGGCACCGGGACCCTGT	0.652																																							uc003liw.1		NA																	0					0						c.(2224-2226)ACC>ACT		protocadherin beta 9 precursor							93.0	112.0	105.0					5																	140569117		2203	4300	6503	SO:0001631	upstream_gene_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140569117C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626		5.37:g.140569117C>T	Exception_encountered					PCDHB10_uc003lix.2_5'Flank	p.T742T	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	2226	+			742			Cytoplasmic (Potential).		Q96T99	Silent	SNP	ENST00000239446.4	37	c.2226C>T	CCDS4252.1																																																																																				0.652	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		116	102	0	0	0	0.00361	0	116	102				
ARSI	340075	broad.mit.edu	37	5	149677827	149677827	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:149677827C>A	ENST00000328668.7	-	2	1239	c.660G>T	c.(658-660)ctG>ctT	p.L220L		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	220					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGCTGGCCAGGATATGGC	0.632																																							uc003lrv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(658-660)CTG>CTT		arylsulfatase family, member I precursor							50.0	51.0	51.0					5																	149677827		2203	4300	6503	SO:0001819	synonymous_variant	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677827C>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.660G>T	5.37:g.149677827C>A							p.L220L	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1249	-			220					A1L3B0|B3KV22|B7XD03	Silent	SNP	ENST00000328668.7	37	c.660G>T	CCDS34275.1																																																																																				0.632	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		15	16	1	0	3.52763e-06	0.00499	4.04664e-06	15	16				
F12	2161	broad.mit.edu	37	5	176830339	176830339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:176830339G>A	ENST00000253496.3	-	12	1495	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	F12_ENST00000514943.1_5'UTR|PFN3_ENST00000358571.2_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	483	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)		Ethanolamine Oleate(DB06689)	CACACCGGCTGAACGTAAGGC	0.706									Hereditary Angioedema																														uc003mgo.3		NA																	0					0						c.(1447-1449)CAG>TAG		coagulation factor XII precursor							24.0	29.0	28.0					5																	176830339		2201	4298	6499	SO:0001587	stop_gained	2161	Hereditary_Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176830339G>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1447C>T	5.37:g.176830339G>A	ENSP00000253496:p.Gln483*					PFN3_uc003mgl.2_5'Flank|F12_uc011dfy.1_Silent_p.F13F|F12_uc003mgn.3_Silent_p.F13F|F12_uc010jkl.2_RNA	p.Q483*	NM_000505	NP_000496	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1496	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	483			Peptidase S1.		P78339	Nonsense_Mutation	SNP	ENST00000253496.3	37	c.1447C>T	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	37	6.421772	0.97555	.	.	ENSG00000131187	ENST00000253496	.	.	.	5.31	4.43	0.53597	.	0.305040	0.23842	N	0.044034	.	.	.	.	.	.	0.32294	N	0.565952	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	11.9495	0.52946	0.0:0.1752:0.8248:0.0	.	.	.	.	X	483	.	ENSP00000253496:Q483X	Q	-	1	0	F12	176762945	0.786000	0.28738	0.202000	0.23494	0.975000	0.68041	1.069000	0.30641	1.213000	0.43380	0.491000	0.48974	CAG		0.706	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			6	51	0	0	0	0.001168	0	6	51				
FLT4	2324	broad.mit.edu	37	5	180057745	180057745	+	Silent	SNP	G	G	T	rs142234456		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:180057745G>T	ENST00000261937.6	-	3	288	c.210C>A	c.(208-210)acC>acA	p.T70T	FLT4_ENST00000502649.1_Silent_p.T70T|FLT4_ENST00000393347.3_Silent_p.T70T|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	70	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTGTCTCCGGTGGCTGGCG	0.677																																					Colon(97;1075 1466 27033 27547 35871)	Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(208-210)ACC>ACA		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						92.0	83.0	86.0					5																	180057745		2202	4299	6501	SO:0001819	synonymous_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057745G>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.210C>A	5.37:g.180057745G>T						FLT4_uc003mlz.3_Silent_p.T70T|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Silent_p.T70T|FLT4_uc011dgz.1_Silent_p.T70T|FLT4_uc011dha.1_Silent_p.T70T	p.T70T	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	3	289	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	70			Ig-like C2-type 1.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.210C>A	CCDS4457.1																																																																																				0.677	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			24	32	1	0	9.86323e-18	0.003954	1.43911e-17	24	32				
DUSP22	56940	broad.mit.edu	37	6	311936	311936	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:311936C>A	ENST00000344450.5	+	3	555	c.112C>A	c.(112-114)Cac>Aac	p.H38N	DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000419235.2_Missense_Mutation_p.H38N|DUSP22_ENST00000603453.1_Intron|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605863.1_Intron	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	38					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCTGTCTGTCCACGATAGTGC	0.488																																							uc003msx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(112-114)CAT>AAT		dual specificity phosphatase 22							169.0	130.0	143.0					6																	311936		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:311936C>A	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.112C>A	6.37:g.311936C>A	ENSP00000345281:p.His38Asn					DUSP22_uc011dhn.1_Missense_Mutation_p.H38N|DUSP22_uc003msy.1_5'UTR	p.H38N	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	3	551	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	38					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.112C>A	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732183	0.89482	.	.	ENSG00000112679	ENST00000344450	T	0.59083	0.29	5.99	5.99	0.97316	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	D	0.000001	T	0.73001	0.3531	M	0.85373	2.75	0.58432	D	0.999998	D;D	0.71674	0.998;0.995	D;D	0.70716	0.97;0.948	T	0.72147	-0.4378	10	0.37606	T	0.19	.	15.9778	0.80083	0.0:1.0:0.0:0.0	.	38;38	Q9NRW4-2;Q9NRW4	.;DUS22_HUMAN	N	38	ENSP00000345281:H38N	ENSP00000345281:H38N	H	+	1	0	DUSP22	256936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.643000	0.61390	2.840000	0.97914	0.655000	0.94253	CAC		0.488	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		5	45	1	0	3.59834e-05	0.001168	3.94631e-05	5	45				
CAGE1	285782	broad.mit.edu	37	6	7365746	7365746	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:7365746G>T	ENST00000512086.1	-	8	2269	c.2067C>A	c.(2065-2067)gcC>gcA	p.A689A	CAGE1_ENST00000338150.4_Silent_p.A716A|CAGE1_ENST00000502583.1_Silent_p.A716A|CAGE1_ENST00000296742.7_Silent_p.A553A|CAGE1_ENST00000379918.4_Silent_p.A694A			Q8TC20	CAGE1_HUMAN	cancer antigen 1	689										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TATCCAGTTTGGCTCCCAGAA	0.343																																							uc003mxi.2		NA																	0					0						c.(1657-1659)GCC>GCA		cancer antigen 1							126.0	124.0	125.0					6																	7365746		1865	4089	5954	SO:0001819	synonymous_variant	285782							g.chr6:7365746G>T	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.2067C>A	6.37:g.7365746G>T						CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Silent_p.A471A|CAGE1_uc003mxk.1_Silent_p.A471A	p.A553A	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN			7	2380	-	Ovarian(93;0.0418)		689					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Silent	SNP	ENST00000512086.1	37	c.1659C>A																																																																																					0.343	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		12	22	1	0	1.5842e-08	0.001855	1.90486e-08	12	22				
GPLD1	2822	broad.mit.edu	37	6	24437453	24437453	+	Silent	SNP	G	G	A	rs139070208		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:24437453G>A	ENST00000230036.1	-	21	2195	c.2085C>T	c.(2083-2085)taC>taT	p.Y695Y		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	695					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATGTGAGTGCGTACATGCGAG	0.582																																							uc003ned.1		NA																	0				ovary(2)|kidney(1)	3						c.(2083-2085)TAC>TAT		glycosylphosphatidylinositol specific		G		2,4404	4.2+/-10.8	0,2,2201	137.0	110.0	119.0		2085	-9.4	0.0	6	dbSNP_134	119	0,8600		0,0,4300	yes	coding-synonymous	GPLD1	NM_001503.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		695/841	24437453	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24437453G>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2085C>T	6.37:g.24437453G>A							p.Y695Y	NM_001503	NP_001494	P80108	PHLD_HUMAN			21	2196	-			695					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	c.2085C>T	CCDS4553.1																																																																																				0.582	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		9	69	0	0	0	0.006214	0	9	69				
HIST1H2BD	3017	broad.mit.edu	37	6	26158542	26158542	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:26158542G>T	ENST00000289316.2	+	1	169	c.145G>T	c.(145-147)Gtc>Ttc	p.V49F	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.V49F	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	49					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GCTGAAGCAGGTCCATCCCGA	0.567																																							uc003ngr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(145-147)GTC>TTC		histone cluster 1, H2bd							210.0	193.0	198.0					6																	26158542		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158542G>T	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.145G>T	6.37:g.26158542G>T	ENSP00000289316:p.Val49Phe					HIST1H2BD_uc003ngs.2_Missense_Mutation_p.V49F	p.V49F	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	194	+			49						Missense_Mutation	SNP	ENST00000289316.2	37	c.145G>T	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.690679	0.88735	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.71103	-0.54;-0.54	5.19	5.19	0.71726	Histone-fold (2);Histone core (1);	0.000000	0.37483	N	0.002069	D	0.89483	0.6728	H	0.98664	4.295	0.47547	D	0.999457	D	0.89917	1.0	D	0.97110	1.0	D	0.92615	0.6103	10	0.87932	D	0	.	15.8127	0.78576	0.0:0.1362:0.8638:0.0	.	49	P58876	H2B1D_HUMAN	F	49	ENSP00000367008:V49F;ENSP00000289316:V49F	ENSP00000289316:V49F	V	+	1	0	HIST1H2BD	26266521	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.792000	0.69052	2.820000	0.97059	0.650000	0.86243	GTC		0.567	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		24	223	1	0	7.01153e-11	0.007291	8.94822e-11	24	223				
HIST1H3F	8968	broad.mit.edu	37	6	26250492	26250492	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:26250492G>A	ENST00000446824.2	-	1	343	c.342C>T	c.(340-342)caC>caT	p.H114H	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	114					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						CTCGCTTGGCGTGGATAGCAC	0.602											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003nhg.1		NA																	0					0						c.(340-342)CAC>CAT		histone cluster 1, H3f							100.0	96.0	97.0					6																	26250492		2203	4300	6503	SO:0001819	synonymous_variant	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250492G>A	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.342C>T	6.37:g.26250492G>A			OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785	HIST1H2BH_uc003nhh.2_5'Flank	p.H114H	NM_021018	NP_066298	P68431	H31_HUMAN			1	344	-			114					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000446824.2	37	c.342C>T	CCDS4600.1																																																																																				0.602	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		13	99	0	0	0	0.001855	0	13	99				
BTN2A3P	54718	broad.mit.edu	37	6	26431818	26431818	+	RNA	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:26431818A>T	ENST00000466808.2	+	0	1766							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GTTGTTCCACAGCTCCCAGCC	0.483																																							uc011dkl.1		NA																	0					0						c.(1735-1737)CAG>CTG		RecName: Full=Butyrophilin subfamily 2 member A3; Flags: Precursor;							105.0	106.0	106.0					6																	26431818		2203	4300	6503			54718							g.chr6:26431818A>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431818A>T						BTN2A3_uc011dkm.1_RNA	p.Q579L							6	1766	+								A6NEF4	Missense_Mutation	SNP	ENST00000466808.2	37	c.1736A>T																																																																																					0.483	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		21	80	0	0	0	0.002299	0	21	80				
C6orf15	29113	broad.mit.edu	37	6	31079656	31079656	+	Silent	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:31079656T>A	ENST00000259870.3	-	2	483	c.480A>T	c.(478-480)acA>acT	p.T160T	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	160					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GTGAGAGGCCTGTGGCATCGG	0.617																																							uc003nsk.1		NA																	0					0						c.(478-480)ACA>ACT		STG protein precursor							32.0	35.0	34.0					6																	31079656		1830	3607	5437	SO:0001819	synonymous_variant	29113							g.chr6:31079656T>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.480A>T	6.37:g.31079656T>A						PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank	p.T160T	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			2	480	-			160					B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Silent	SNP	ENST00000259870.3	37	c.480A>T	CCDS4693.1																																																																																				0.617	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		22	27	0	0	0	0.00278	0	22	27				
SKIV2L	6499	broad.mit.edu	37	6	31928518	31928518	+	Splice_Site	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:31928518G>T	ENST00000375394.2	+	6	657		c.e6+1		NELFE_ENST00000375425.5_5'Flank|NELFE_ENST00000444811.2_5'Flank|SKIV2L_ENST00000488648.1_Splice_Site|NELFE_ENST00000375429.3_5'Flank|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)						ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TTTGAGAAAGGTAAGGTGGGG	0.517																																							uc003nyn.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.e6+1		superkiller viralicidic activity 2-like homolog							81.0	83.0	82.0					6																	31928518		2203	4300	6503	SO:0001630	splice_region_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31928518G>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.544+1G>T	6.37:g.31928518G>T						RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|SKIV2L_uc011dou.1_Splice_Site_p.D24_splice|SKIV2L_uc011dov.1_Intron	p.D182_splice	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			6	933	+								O15005|Q12902|Q15476|Q5ST66	Splice_Site	SNP	ENST00000375394.2	37	c.544_splice	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712584	0.68730	.	.	ENSG00000204351	ENST00000375394;ENST00000433155	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.398	0.87451	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SKIV2L	32036497	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.854000	0.86942	2.412000	0.81896	0.655000	0.94253	.		0.517	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3		Intron	23	44	1	0	1.50039e-11	0.001882	1.94973e-11	23	44				
BTNL2	56244	broad.mit.edu	37	6	32362690	32362690	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:32362690C>A	ENST00000374993.1	-	6	1190	c.1191G>T	c.(1189-1191)atG>atT	p.M397I	HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000540315.1_Missense_Mutation_p.M187I|BTNL2_ENST00000374995.3_Missense_Mutation_p.M303I|BTNL2_ENST00000454136.3_Missense_Mutation_p.M397I|BTNL2_ENST00000414363.1_Missense_Mutation_p.M187I|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000544175.1_Missense_Mutation_p.M120I	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	397						integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCTTTCCTTCCATGTCCCTCC	0.567																																							uc003obg.1		NA																	0				central_nervous_system(1)	1						c.(1189-1191)ATG>ATT		butyrophilin-like 2							240.0	225.0	230.0					6																	32362690		2203	4300	6503	SO:0001583	missense	56244					integral to membrane		g.chr6:32362690C>A	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1191G>T	6.37:g.32362690C>A	ENSP00000364132:p.Met397Ile					BTNL2_uc010jty.1_Missense_Mutation_p.M120I|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Missense_Mutation_p.M187I	p.M397I	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			6	1191	-			397			Extracellular (Potential).		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.1191G>T		.	.	.	.	.	.	.	.	.	.	c	9.544	1.114263	0.20795	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000544175	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.08	-2.66	0.06077	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	1.488080	0.04423	N	0.367996	T	0.29684	0.0741	N	0.16037	0.36	0.09310	N	1	B;B	0.23591	0.088;0.005	B;B	0.23419	0.046;0.029	T	0.12041	-1.0563	10	0.37606	T	0.19	.	0.9568	0.01387	0.1412:0.2512:0.2783:0.3293	.	187;397	Q9UIR0-4;Q9UIR0	.;BTNL2_HUMAN	I	397;303;187;397;187;120	ENSP00000364134:M303I;ENSP00000390512:M187I;ENSP00000364132:M397I;ENSP00000444714:M187I;ENSP00000443364:M120I	ENSP00000364132:M397I	M	-	3	0	BTNL2	32470668	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.086000	0.03386	-0.116000	0.11893	-0.359000	0.07587	ATG		0.567	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		71	128	1	0	1.59245e-42	0.00361	2.70283e-42	71	128				
ITPR3	3710	broad.mit.edu	37	6	33644690	33644690	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:33644690C>G	ENST00000374316.5	+	27	4488	c.3428C>G	c.(3427-3429)gCc>gGc	p.A1143G	ITPR3_ENST00000605930.1_Missense_Mutation_p.A1143G			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1143				A -> T (in Ref. 2; AAC50064). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GAGGCAGGCGCCGCCAAGGAC	0.632																																							uc011drk.1		NA																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(3427-3429)GCC>GGC		inositol 1,4,5-triphosphate receptor, type 3							71.0	62.0	65.0					6																	33644690		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33644690C>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.3428C>G	6.37:g.33644690C>G	ENSP00000363435:p.Ala1143Gly						p.A1143G	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			26	3647	+			1143	A -> T (in Ref. 2; AAC50064).		Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.3428C>G	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	0.516	-0.864270	0.02590	.	.	ENSG00000096433	ENST00000374316	D	0.89196	-2.48	5.07	4.15	0.48705	.	1.133300	0.06342	N	0.708182	T	0.71745	0.3376	L	0.31926	0.97	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59611	-0.7422	10	0.20046	T	0.44	-3.8884	9.3878	0.38354	0.2192:0.6649:0.116:0.0	.	1143	Q14573	ITPR3_HUMAN	G	1143	ENSP00000363435:A1143G	ENSP00000363435:A1143G	A	+	2	0	ITPR3	33752668	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	0.982000	0.29539	2.518000	0.84900	0.655000	0.94253	GCC		0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		6	29	0	0	0	0.001168	0	6	29				
DNAH8	1769	broad.mit.edu	37	6	38980313	38980313	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:38980313C>T	ENST00000359357.3	+	89	13217	c.12963C>T	c.(12961-12963)ttC>ttT	p.F4321F	DNAH8_ENST00000441566.1_Silent_p.F4285F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4321					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTGGGCTTCTGGTTCACTG	0.438																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(12961-12963)TTC>TTT		dynein, axonemal, heavy polypeptide 8							186.0	176.0	179.0					6																	38980313		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38980313C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12963C>T	6.37:g.38980313C>T							p.F4321F	NM_001371	NP_001362					89	13563	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.12963C>T																																																																																					0.438	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		67	116	0	0	0	0.00361	0	67	116				
FRS3	10817	broad.mit.edu	37	6	41739065	41739065	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:41739065C>A	ENST00000373018.3	-	7	1022	c.771G>T	c.(769-771)caG>caT	p.Q257H	FRS3_ENST00000259748.2_Missense_Mutation_p.Q257H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	257					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GACAGAGGCCCTGGCACTTCA	0.612																																							uc003orc.1		NA																	0				ovary(2)	2						c.(769-771)CAG>CAT		fibroblast growth factor receptor substrate 3							62.0	59.0	60.0					6																	41739065		2203	4300	6503	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41739065C>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.771G>T	6.37:g.41739065C>A	ENSP00000362109:p.Gln257His						p.Q257H	NM_006653	NP_006644	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1015	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		257					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.771G>T	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240502	0.39598	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.23754	1.89;1.89	5.73	2.99	0.34606	.	3.295260	0.00649	N	0.000555	T	0.10380	0.0254	L	0.50333	1.59	0.30951	N	0.724741	P	0.52316	0.952	B	0.42163	0.378	T	0.03717	-1.1010	10	0.39692	T	0.17	-29.1764	1.9868	0.03438	0.1372:0.4994:0.1335:0.2299	.	257	O43559	FRS3_HUMAN	H	257	ENSP00000362109:Q257H;ENSP00000259748:Q257H	ENSP00000259748:Q257H	Q	-	3	2	FRS3	41847043	0.032000	0.19561	0.999000	0.59377	0.857000	0.48899	0.142000	0.16096	0.353000	0.24079	-0.794000	0.03295	CAG		0.612	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		22	34	1	0	3.8784e-16	0.001882	5.4825e-16	22	34				
PTCRA	171558	broad.mit.edu	37	6	42891048	42891049	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:42891048_42891049GG>TT	ENST00000304672.1	+	2	423_424	c.342_343GG>TT	c.(340-345)gaGGgt>gaTTgt	p.114_115EG>DC	PTCRA_ENST00000441198.1_Missense_Mutation_p.89_90EG>DC|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	114					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTGGGGCTGAGGGTCACAGCAG	0.619																																							uc003osx.2		NA																	0				ovary(2)	2						c.(340-345)GAGGGT>GATTGT		pre T-cell antigen receptor alpha precursor																																				SO:0001583	missense	171558					integral to membrane	receptor activity	g.chr6:42891048_42891049GG>TT	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	Exception_encountered	6.37:g.42891048_42891049delinsTT	ENSP00000304447:p.E114_G115delinsDC					PTCRA_uc011duz.1_Missense_Mutation_p.R125I|PTCRA_uc010jxx.1_Missense_Mutation_p.R75I|PTCRA_uc010jxy.2_Missense_Mutation_p.89_90EG>DC|PTCRA_uc010jxz.2_Intron	p.114_115EG>DC	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	423_424	+	Colorectal(47;0.196)		114_115			Extracellular (Potential).		Q5TFZ7	Missense_Mutation	DNP	ENST00000304672.1	37	c.342_343GG>TT	CCDS4874.1																																																																																				0.619	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		10	60	0	0	0	0.004672	0	10	60				
DEFB112	245915	broad.mit.edu	37	6	50011327	50011327	+	Silent	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:50011327T>A	ENST00000322246.4	-	2	302	c.303A>T	c.(301-303)gtA>gtT	p.V101V		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	101					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CTTGAGTCCCTACTGAGTCCT	0.413																																							uc011dws.1		NA																	0				central_nervous_system(1)	1						c.(301-303)GTA>GTT		beta-defensin 112 precursor							130.0	110.0	117.0					6																	50011327		2203	4300	6503	SO:0001819	synonymous_variant	245915				defense response to bacterium	extracellular region		g.chr6:50011327T>A	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.303A>T	6.37:g.50011327T>A							p.V101V	NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN			2	303	-	Lung NSC(77;0.042)		101					Q8NET0	Silent	SNP	ENST00000322246.4	37	c.303A>T	CCDS34476.1																																																																																				0.413	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		20	26	0	0	0	0.010504	0	20	26				
BEND6	221336	broad.mit.edu	37	6	56846716	56846716	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:56846716G>A	ENST00000370746.3	+	2	377	c.108G>A	c.(106-108)atG>atA	p.M36I	BEND6_ENST00000370748.3_Missense_Mutation_p.M36I|BEND6_ENST00000370745.1_Missense_Mutation_p.M36I|BEND6_ENST00000370750.2_Missense_Mutation_p.M36I	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	36					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ATAGTGACATGGATAAAGGAC	0.348																																							uc010kab.2		NA																	0					0						c.(106-108)ATG>ATA		BEN domain containing 6							190.0	195.0	193.0					6																	56846716		1864	4099	5963	SO:0001583	missense	221336							g.chr6:56846716G>A	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.108G>A	6.37:g.56846716G>A	ENSP00000359782:p.Met36Ile					BEND6_uc003pdg.2_RNA	p.M36I	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN			2	694	+			36					Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.108G>A	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386674	0.25031	.	.	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	4.82	2.7	0.31948	.	0.957361	0.08687	N	0.908527	T	0.11665	0.0284	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31110	-0.9955	9	0.20046	T	0.44	-0.0384	7.3419	0.26641	0.0918:0.0:0.6973:0.2108	.	36	Q5SZJ8	BEND6_HUMAN	I	36	.	ENSP00000322773:M36I	M	+	3	0	BEND6	56954675	0.999000	0.42202	0.927000	0.36925	0.998000	0.95712	2.191000	0.42640	1.154000	0.42482	0.650000	0.86243	ATG		0.348	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		16	59	0	0	0	0.00499	0	16	59				
COL12A1	1303	broad.mit.edu	37	6	75818835	75818835	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:75818835A>T	ENST00000322507.8	-	52	8308	c.7999T>A	c.(7999-8001)Tat>Aat	p.Y2667N	COL12A1_ENST00000416123.2_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.Y2667N|COL12A1_ENST00000345356.6_Missense_Mutation_p.Y1503N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2667	Laminin G-like.|Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATAATTTCATAGCAGTCAATG	0.303																																							uc003phs.2		NA																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(7999-8001)TAT>AAT		collagen, type XII, alpha 1 long isoform							81.0	76.0	77.0					6																	75818835		1796	4072	5868	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75818835A>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7999T>A	6.37:g.75818835A>T	ENSP00000325146:p.Tyr2667Asn					COL12A1_uc003pht.2_Missense_Mutation_p.Y1503N	p.Y2667N	NM_004370	NP_004361	Q99715	COCA1_HUMAN			52	8165	-			2667			TSP N-terminal.|Nonhelical region (NC3).		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.7999T>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.856707	0.32791	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000345356;ENST00000483888	T;T;T;T	0.01947	4.54;4.54;4.54;4.54	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.332269	0.32473	N	0.006051	T	0.00468	0.0015	N	0.11427	0.14	0.29727	N	0.838219	P;P	0.35174	0.469;0.488	B;B	0.27076	0.076;0.035	T	0.48658	-0.9016	10	0.25106	T	0.35	.	6.5179	0.22258	0.6335:0.1272:0.0:0.2393	.	1503;2667	Q99715-2;Q99715	.;COCA1_HUMAN	N	2667;305;1503;2667	ENSP00000325146:Y2667N;ENSP00000399812:Y305N;ENSP00000305147:Y1503N;ENSP00000421216:Y2667N	ENSP00000325146:Y2667N	Y	-	1	0	COL12A1	75875555	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.581000	0.53914	2.191000	0.70037	0.528000	0.53228	TAT		0.303	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		22	29	0	0	0	0.001882	0	22	29				
GABRR2	2570	broad.mit.edu	37	6	89975446	89975446	+	Missense_Mutation	SNP	G	G	T	rs76786334	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:89975446G>T	ENST00000402938.3	-	7	908	c.775C>A	c.(775-777)Cgc>Agc	p.R259S	GABRR2_ENST00000602399.1_Missense_Mutation_p.R284S	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	259					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)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AAGATGTGGCGACGCAACGTG	0.522																																							uc003pnb.2		NA																	0					0						c.(850-852)CGC>AGC		gamma-aminobutyric acid (GABA) receptor, rho 2							183.0	147.0	159.0					6																	89975446		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89975446G>T		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.775C>A	6.37:g.89975446G>T	ENSP00000386029:p.Arg259Ser					GABRR2_uc011dzx.1_Missense_Mutation_p.R160S	p.R284S	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	7	858	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	284			Extracellular (Probable).		A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.850C>A	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241939	0.79912	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86008	0.5830	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88459	0.3054	8	.	.	.	.	20.1111	0.97911	0.0:0.0:1.0:0.0	.	284	P28476	GBRR2_HUMAN	S	284	.	.	R	-	1	0	GABRR2	90032165	1.000000	0.71417	0.766000	0.31476	0.645000	0.38454	5.738000	0.68613	2.741000	0.93983	0.655000	0.94253	CGC		0.522	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			13	30	1	0	4.36969e-10	0.001855	5.46485e-10	13	30				
MCHR2	84539	broad.mit.edu	37	6	100390892	100390892	+	Missense_Mutation	SNP	C	C	A	rs373216169		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:100390892C>A	ENST00000281806.2	-	4	834	c.520G>T	c.(520-522)Gtc>Ttc	p.V174F	MCHR2_ENST00000369212.2_Missense_Mutation_p.V174F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AATTTGATGACCTTCGAGTAG	0.443																																							uc003pqh.1		NA																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(520-522)GTC>TTC		melanin-concentrating hormone receptor 2		C	PHE/VAL,PHE/VAL	1,4405	2.1+/-5.4	0,1,2202	153.0	143.0	146.0		520,520	3.3	0.8	6		146	0,8600		0,0,4300	no	missense,missense	MCHR2	NM_001040179.1,NM_032503.2	50,50	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	174/341,174/341	100390892	1,13005	2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100390892C>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.520G>T	6.37:g.100390892C>A	ENSP00000281806:p.Val174Phe					MCHR2_uc003pqi.1_Missense_Mutation_p.V174F	p.V174F	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	4	835	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	174			Helical; Name=4; (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.520G>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242197	0.58995	2.27E-4	0.0	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.37752	1.18;1.18;1.18	5.05	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.44767	0.1309	M	0.74258	2.255	0.37196	D	0.904141	D	0.67145	0.996	D	0.72982	0.979	T	0.49978	-0.8881	10	0.59425	D	0.04	.	9.9822	0.41819	0.0:0.8338:0.0:0.1662	.	174	Q969V1	MCHR2_HUMAN	F	174	ENSP00000403490:V174F;ENSP00000281806:V174F;ENSP00000358214:V174F	ENSP00000281806:V174F	V	-	1	0	MCHR2	100497613	1.000000	0.71417	0.829000	0.32907	0.709000	0.40893	2.957000	0.49137	0.550000	0.28991	-0.136000	0.14681	GTC		0.443	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		54	57	1	0	4.83215e-14	0.00361	6.66089e-14	54	57				
PDSS2	57107	broad.mit.edu	37	6	107655415	107655415	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:107655415C>G	ENST00000369037.4	-	2	695	c.418G>C	c.(418-420)Ggg>Cgg	p.G140R	PDSS2_ENST00000369031.4_Missense_Mutation_p.G140R|PDSS2_ENST00000453874.2_Missense_Mutation_p.G140R	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	140					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GAGTAGATCCCACTGACCATG	0.453																																							uc003prt.2		NA																	0				ovary(2)	2						c.(418-420)GGG>CGG		prenyl diphosphate synthase, subunit 2							105.0	95.0	98.0					6																	107655415		2203	4300	6503	SO:0001583	missense	57107				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	g.chr6:107655415C>G	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.418G>C	6.37:g.107655415C>G	ENSP00000358033:p.Gly140Arg					PDSS2_uc011eak.1_Missense_Mutation_p.G4R|PDSS2_uc011eal.1_Missense_Mutation_p.G140R|PDSS2_uc003pru.2_Missense_Mutation_p.G140R|PDSS2_uc003prv.2_Missense_Mutation_p.G140R	p.G140R	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)	2	708	-	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	140					Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	ENST00000369037.4	37	c.418G>C	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426637	0.83667	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	T;T;T	0.63913	-0.07;-0.07;-0.07	5.38	5.38	0.77491	Terpenoid synthase (2);	0.104353	0.64402	D	0.000004	T	0.79639	0.4480	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.997	D;D;D;D	0.77004	0.989;0.986;0.956;0.956	T	0.82510	-0.0421	10	0.72032	D	0.01	.	17.7029	0.88300	0.0:1.0:0.0:0.0	.	140;140;140;140	B4DKU5;Q86YH6-2;B2RE48;Q86YH6	.;.;.;DLP1_HUMAN	R	140	ENSP00000358033:G140R;ENSP00000399691:G140R;ENSP00000358027:G140R	ENSP00000358027:G140R	G	-	1	0	PDSS2	107762108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.482000	0.73613	2.691000	0.91804	0.561000	0.74099	GGG		0.453	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381		11	43	0	0	0	0.001855	0	11	43				
GPR6	2830	broad.mit.edu	37	6	110301337	110301337	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:110301337G>T	ENST00000275169.3	+	1	1040	c.1022G>T	c.(1021-1023)tGg>tTg	p.W341L	GPR6_ENST00000414000.2_Missense_Mutation_p.W356L	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	341					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CGCGCCCTGTGGCTCCTGCTC	0.602																																							uc011eaw.1		NA																	0					0						c.(1021-1023)TGG>TTG		G protein-coupled receptor 6							108.0	112.0	111.0					6																	110301337		2203	4300	6503	SO:0001583	missense	2830					integral to plasma membrane		g.chr6:110301337G>T		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.1022G>T	6.37:g.110301337G>T	ENSP00000275169:p.Trp341Leu					GPR6_uc011eav.1_Missense_Mutation_p.W356L|GPR6_uc003ptu.2_Missense_Mutation_p.W341L	p.W341L	NM_005284	NP_005275	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	2	1202	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	341			Cytoplasmic (Potential).		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.1022G>T	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	G	1.099	-0.661703	0.03454	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.34072	1.38;1.38	4.93	4.07	0.47477	.	0.825013	0.10980	N	0.612826	T	0.16171	0.0389	L	0.47190	1.495	0.51012	D	0.999906	B;B	0.21520	0.057;0.011	B;B	0.16289	0.015;0.015	T	0.10941	-1.0608	10	0.11182	T	0.66	.	15.5751	0.76373	0.0:0.1382:0.8618:0.0	.	356;341	B4DHS9;P46095	.;GPR6_HUMAN	L	319;356;341	ENSP00000406986:W356L;ENSP00000275169:W341L	ENSP00000275169:W341L	W	+	2	0	GPR6	110408030	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	5.149000	0.64863	1.313000	0.45069	-0.127000	0.14921	TGG		0.602	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			44	71	1	0	1.19451e-25	0.00361	1.89226e-25	44	71				
MED23	9439	broad.mit.edu	37	6	131944574	131944574	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:131944574C>A	ENST00000368068.3	-	5	492	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	MED23_ENST00000539158.1_Missense_Mutation_p.D105Y|MED23_ENST00000354577.4_Missense_Mutation_p.D105Y|MED23_ENST00000368053.4_Missense_Mutation_p.D105Y|MED23_ENST00000368058.1_Missense_Mutation_p.D105Y|MED23_ENST00000540546.1_Missense_Mutation_p.D105Y|MED23_ENST00000403834.3_Missense_Mutation_p.D105Y|MED23_ENST00000368060.3_Missense_Mutation_p.D105Y	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	105					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TCAAGAGTGTCAGAGTTTATC	0.373																																							uc003qcs.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(313-315)GAC>TAC		mediator complex subunit 23 isoform a							75.0	81.0	79.0					6																	131944574		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131944574C>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.313G>T	6.37:g.131944574C>A	ENSP00000357047:p.Asp105Tyr					MED23_uc003qcq.2_Missense_Mutation_p.D105Y|MED23_uc003qct.1_Missense_Mutation_p.D105Y|MED23_uc011ecb.1_RNA	p.D105Y	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	5	487	-	Breast(56;0.0753)		105					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.313G>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540052	0.85917	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.81678	0.4873	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.996	D;D;D	0.83275	0.996;0.961;0.935	D	0.83392	0.0018	10	0.72032	D	0.01	-0.1028	19.5386	0.95266	0.0:1.0:0.0:0.0	.	105;105;105	Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	Y	105	ENSP00000346588:D105Y;ENSP00000357047:D105Y;ENSP00000384536:D105Y;ENSP00000357039:D105Y;ENSP00000357037:D105Y;ENSP00000357032:D105Y;ENSP00000437818:D105Y;ENSP00000445072:D105Y	ENSP00000346588:D105Y	D	-	1	0	MED23	131986267	1.000000	0.71417	0.994000	0.49952	0.746000	0.42486	7.764000	0.85297	2.610000	0.88304	0.650000	0.86243	GAC		0.373	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			35	40	1	0	4.65686e-17	0.003755	6.69676e-17	35	40				
TAB2	23118	broad.mit.edu	37	6	149699609	149699609	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:149699609G>T	ENST00000367456.1	+	4	1135	c.558G>T	c.(556-558)caG>caT	p.Q186H	TAB2_ENST00000286332.5_Missense_Mutation_p.Q186H|TAB2_ENST00000392282.1_Missense_Mutation_p.Q186H|TAB2_ENST00000538427.1_Missense_Mutation_p.Q186H|TAB2_ENST00000536230.1_Missense_Mutation_p.Q154H			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	186					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CAAATATCCAGACTGGTCGTA	0.403																																							uc003qmj.2		NA																	0					0						c.(556-558)CAG>CAT		mitogen-activated protein kinase kinase kinase 7							96.0	93.0	94.0					6																	149699609		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|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 I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149699609G>T	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.558G>T	6.37:g.149699609G>T	ENSP00000356426:p.Gln186His					TAB2_uc011eec.1_Missense_Mutation_p.Q154H|TAB2_uc010kia.1_Missense_Mutation_p.Q186H|TAB2_uc010kib.1_Missense_Mutation_p.Q186H|TAB2_uc003qmk.3_RNA	p.Q186H	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			3	736	+			186					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.558G>T	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211722	0.39102	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.74421	-0.83;-0.84;-0.83;-0.83;-0.83	5.96	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.70518	0.3233	L	0.44542	1.39	0.53005	D	0.999966	D;D	0.56968	0.978;0.978	P;P	0.54460	0.753;0.753	T	0.75277	-0.3374	10	0.62326	D	0.03	-2.1018	15.2905	0.73862	0.067:0.0:0.933:0.0	.	154;186	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	H	154;186;186;186;186	ENSP00000443206:Q154H;ENSP00000376106:Q186H;ENSP00000445752:Q186H;ENSP00000356426:Q186H;ENSP00000286332:Q186H	ENSP00000286332:Q186H	Q	+	3	2	TAB2	149741302	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	4.639000	0.61361	1.530000	0.49136	0.650000	0.86243	CAG		0.403	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			30	47	1	0	5.77227e-19	0.008361	8.57251e-19	30	47				
SYNE1	23345	broad.mit.edu	37	6	152949442	152949442	+	Silent	SNP	G	G	T	rs200346529		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:152949442G>T	ENST00000367255.5	-	3	626	c.25C>A	c.(25-27)Cgg>Agg	p.R9R	SYNE1_ENST00000423061.1_Silent_p.R9R|SYNE1_ENST00000367253.4_Silent_p.R9R|SYNE1_ENST00000466159.2_Silent_p.R9R|SYNE1_ENST00000413186.2_Silent_p.R9R|SYNE1_ENST00000448038.1_Silent_p.R9R|SYNE1_ENST00000341594.5_Silent_p.R9R|SYNE1_ENST00000367248.3_Silent_p.R9R|SYNE1_ENST00000265368.4_Silent_p.R9R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	9	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGAGGACACCGGGAGGCCCCT	0.512										HNSCC(10;0.0054)																													uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(25-27)CGG>AGG		spectrin repeat containing, nuclear envelope 1							91.0	96.0	94.0					6																	152949442		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152949442G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25C>A	6.37:g.152949442G>T		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.R9R|SYNE1_uc003qou.3_Silent_p.R9R|SYNE1_uc010kjb.1_Silent_p.R9R|SYNE1_uc003qpa.1_Silent_p.R9R	p.R9R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	3	627	-		Ovarian(120;0.0955)	9			Actin-binding.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.25C>A	CCDS5236.2																																																																																				0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		32	59	1	0	4.62619e-21	0.004289	7.10298e-21	32	59				
RSPH3	83861	broad.mit.edu	37	6	159420896	159420896	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:159420896G>C	ENST00000252655.1	-	1	302	c.113C>G	c.(112-114)gCc>gGc	p.A38G	RSPH3_ENST00000297262.3_Missense_Mutation_p.A38G|RSPH3_ENST00000449822.1_5'Flank|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_5'UTR	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	38										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AAGGACTGCGGCACAAGGGAC	0.697																																							uc003qrx.2		NA																	0				ovary(1)|skin(1)	2						c.(112-114)GCC>GGC		radial spoke 3 homolog							21.0	25.0	24.0					6																	159420896		2201	4294	6495	SO:0001583	missense	83861							g.chr6:159420896G>C	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.113C>G	6.37:g.159420896G>C	ENSP00000252655:p.Ala38Gly					RSPH3_uc010kju.2_Missense_Mutation_p.A38G|RSPH3_uc003qry.1_Missense_Mutation_p.A38G	p.A38G	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	1	303	-		Breast(66;0.00519)|Ovarian(120;0.123)	38					Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	c.113C>G	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832401	0.32421	.	.	ENSG00000130363	ENST00000252655;ENST00000297262	T;T	0.13538	2.63;2.58	3.94	-1.99	0.07457	.	3.081050	0.01052	N	0.004499	T	0.02380	0.0073	N	0.14661	0.345	0.09310	N	1	B;B	0.31817	0.341;0.231	B;B	0.25140	0.058;0.026	T	0.35968	-0.9767	10	0.34782	T	0.22	4.7129	9.4111	0.38491	0.1013:0.4419:0.4568:0.0	.	38;38	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	G	38	ENSP00000252655:A38G;ENSP00000297262:A38G	ENSP00000252655:A38G	A	-	2	0	RSPH3	159340884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.190000	0.09615	-0.307000	0.08804	-1.087000	0.02190	GCC		0.697	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		12	25	0	0	0	0.001368	0	12	25				
MAD1L1	8379	broad.mit.edu	37	7	1855719	1855719	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:1855719T>C	ENST00000406869.1	-	19	2701	c.2144A>G	c.(2143-2145)cAg>cGg	p.Q715R	MAD1L1_ENST00000265854.7_Missense_Mutation_p.Q715R|MAD1L1_ENST00000399654.2_Missense_Mutation_p.Q715R|MAD1L1_ENST00000402746.1_Missense_Mutation_p.Q623R			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	715					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CGCCACGGTCTGGCGGCTGAA	0.687																																							uc003slh.1		NA																	0				lung(1)|central_nervous_system(1)	2						c.(2143-2145)CAG>CGG		MAD1-like 1 protein							22.0	28.0	26.0					7																	1855719		2056	4213	6269	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1855719T>C	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.2144A>G	7.37:g.1855719T>C	ENSP00000385334:p.Gln715Arg					MAD1L1_uc003sle.1_Missense_Mutation_p.Q444R|MAD1L1_uc003slf.1_Missense_Mutation_p.Q715R|MAD1L1_uc003slg.1_Missense_Mutation_p.Q715R|MAD1L1_uc010ksh.1_Missense_Mutation_p.Q715R|MAD1L1_uc003sli.1_Missense_Mutation_p.Q623R|MAD1L1_uc003sld.1_Missense_Mutation_p.Q171R	p.Q715R	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	19	2410	-		Ovarian(82;0.0272)	715					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.2144A>G	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282535	0.80692	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	3.98	3.98	0.46160	.	.	.	.	.	T	0.46034	0.1372	M	0.80616	2.505	0.52099	D	0.999943	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.992	T	0.45249	-0.9274	9	0.37606	T	0.19	-11.6686	12.9502	0.58397	0.0:0.0:0.0:1.0	.	623;715	B3KR41;Q9Y6D9	.;MD1L1_HUMAN	R	623;715;715;266;715;266	ENSP00000384155:Q623R;ENSP00000382562:Q715R;ENSP00000385334:Q715R;ENSP00000265854:Q715R;ENSP00000394886:Q266R	ENSP00000265854:Q715R	Q	-	2	0	MAD1L1	1822245	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.793000	0.75130	1.460000	0.47911	0.374000	0.22700	CAG		0.687	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		9	40	0	0	0	0.006214	0	9	40				
MAD1L1	8379	broad.mit.edu	37	7	2259031	2259031	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:2259031T>A	ENST00000406869.1	-	6	1089	c.532A>T	c.(532-534)Atg>Ttg	p.M178L	MAD1L1_ENST00000265854.7_Missense_Mutation_p.M178L|MAD1L1_ENST00000399654.2_Missense_Mutation_p.M178L|MAD1L1_ENST00000402746.1_Missense_Mutation_p.M86L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	178					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TTCACCCGCATCTCCTGGTCC	0.627																																							uc003slh.1		NA																	0				lung(1)|central_nervous_system(1)	2						c.(532-534)ATG>TTG		MAD1-like 1 protein							38.0	39.0	39.0					7																	2259031		2050	4221	6271	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2259031T>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.532A>T	7.37:g.2259031T>A	ENSP00000385334:p.Met178Leu					MAD1L1_uc003slf.1_Missense_Mutation_p.M178L|MAD1L1_uc003slg.1_Missense_Mutation_p.M178L|MAD1L1_uc010ksh.1_Missense_Mutation_p.M178L|MAD1L1_uc003sli.1_Missense_Mutation_p.M86L|MAD1L1_uc010ksi.1_Missense_Mutation_p.M131L|MAD1L1_uc010ksj.2_Missense_Mutation_p.M178L	p.M178L	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	6	798	-		Ovarian(82;0.0272)	178			Potential.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.532A>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	T	5.542	0.284873	0.10513	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000445959;ENST00000429625;ENST00000455998	T;T;T;T;T;T;T	0.77877	2.16;2.16;2.16;2.16;-1.1;-1.13;2.16	5.4	3.09	0.35607	.	0.314438	0.38837	N	0.001545	T	0.66277	0.2773	L	0.59436	1.845	0.21762	N	0.999554	B;B;B;B	0.22146	0.003;0.065;0.029;0.012	B;B;B;B	0.22152	0.007;0.038;0.007;0.016	T	0.48317	-0.9046	10	0.10902	T	0.67	-24.1348	4.3955	0.11360	0.1743:0.104:0.0:0.7217	.	107;178;86;178	C9K086;A4D218;B3KR41;Q9Y6D9	.;.;.;MD1L1_HUMAN	L	86;178;178;178;55;107;131	ENSP00000384155:M86L;ENSP00000382562:M178L;ENSP00000385334:M178L;ENSP00000265854:M178L;ENSP00000401901:M55L;ENSP00000413139:M107L;ENSP00000390099:M131L	ENSP00000265854:M178L	M	-	1	0	MAD1L1	2225557	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.335000	0.59298	0.402000	0.25451	0.459000	0.35465	ATG		0.627	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		5	17	0	0	0	0.001168	0	5	17				
RBAK	57786	broad.mit.edu	37	7	5104718	5104718	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:5104718G>T	ENST00000353796.3	+	6	1955	c.1631G>T	c.(1630-1632)tGt>tTt	p.C544F	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.C544F	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	544	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGTAATGTATGTGGAAAGTTA	0.378																																							uc010kss.1		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(1630-1632)TGT>TTT		RB-associated KRAB repressor							65.0	65.0	65.0					7																	5104718		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104718G>T	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1631G>T	7.37:g.5104718G>T	ENSP00000275423:p.Cys544Phe					LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.C544F	p.C544F	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	1955	+		Ovarian(82;0.0175)	544			Interaction with AR.|C2H2-type 11.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.1631G>T	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393383	0.62066	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.29655	1.56;1.56	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000068	T	0.61148	0.2324	M	0.90252	3.1	0.43693	D	0.996147	D	0.89917	1.0	D	0.91635	0.999	T	0.75110	-0.3433	8	.	.	.	.	13.8561	0.63527	0.0:0.0:1.0:0.0	.	544	Q9NYW8	RBAK_HUMAN	F	544	ENSP00000275423:C544F;ENSP00000380120:C544F	.	C	+	2	0	RBAK	5071244	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	8.897000	0.92532	2.386000	0.81285	0.555000	0.69702	TGT		0.378	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		28	70	1	0	2.12542e-12	0.00632	2.81322e-12	28	70				
AGMO	392636	broad.mit.edu	37	7	15405839	15405839	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:15405839C>A	ENST00000342526.3	-	11	1252	c.1083G>T	c.(1081-1083)tcG>tcT	p.S361S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	361					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GAGTAACTTGCGACAGTGCCT	0.403																																							uc003stb.1		NA																	0					0						c.(1081-1083)TCG>TCT		transmembrane protein 195							44.0	39.0	41.0					7																	15405839		2203	4299	6502	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15405839C>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1083G>T	7.37:g.15405839C>A							p.S361S	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			11	1253	-			361					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.1083G>T	CCDS34604.1																																																																																				0.403	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		10	18	1	0	0.00136819	0.001368	0.00144953	10	18				
ITGB8	3696	broad.mit.edu	37	7	20403302	20403302	+	Missense_Mutation	SNP	G	G	T	rs376774573	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:20403302G>T	ENST00000222573.4	+	2	854	c.170G>T	c.(169-171)aGg>aTg	p.R57M	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	57					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCCTGTGCCAGGTGCCTTGCG	0.393													G|||	3	0.000599042	0.0	0.0	5008	,	,		17673	0.0		0.0	False		,,,				2504	0.0031						uc003suu.2		NA																	0				skin(3)	3						c.(169-171)AGG>ATG		integrin, beta 8 precursor							71.0	64.0	66.0					7																	20403302		2203	4299	6502	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20403302G>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.170G>T	7.37:g.20403302G>T	ENSP00000222573:p.Arg57Met					ITGB8_uc011jyh.1_Translation_Start_Site|ITGB8_uc003sut.2_Missense_Mutation_p.R57M	p.R57M	NM_002214	NP_002205	P26012	ITB8_HUMAN			2	875	+			57			Extracellular (Potential).		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.170G>T	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304611	0.40795	.	.	ENSG00000105855	ENST00000222573	D	0.85339	-1.97	5.57	-3.15	0.05233	Integrin beta subunit, N-terminal (2);	0.348665	0.26528	N	0.023876	T	0.77638	0.4160	L	0.32530	0.975	0.46458	D	0.999059	P;P	0.36599	0.56;0.56	B;B	0.44315	0.446;0.446	T	0.69269	-0.5189	10	0.87932	D	0	-0.4088	7.2338	0.26057	0.3323:0.2344:0.4333:0.0	.	57;57	P26012;Q9BUG9	ITB8_HUMAN;.	M	57	ENSP00000222573:R57M	ENSP00000222573:R57M	R	+	2	0	ITGB8	20369827	0.991000	0.36638	0.145000	0.22337	0.834000	0.47266	0.221000	0.17680	-0.553000	0.06158	-0.345000	0.07892	AGG		0.393	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		17	21	1	0	1.2644e-06	0.010504	1.47431e-06	17	21				
NT5C3A	51251	broad.mit.edu	37	7	33054364	33054364	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:33054364G>T	ENST00000242210.7	-	9	1065	c.989C>A	c.(988-990)tCt>tAt	p.S330Y	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000396152.2_Missense_Mutation_p.S291Y|NT5C3A_ENST00000381626.2_Missense_Mutation_p.S279Y|NT5C3A_ENST00000405342.1_Missense_Mutation_p.S291Y|NT5C3A_ENST00000610140.1_Missense_Mutation_p.S325Y|NT5C3A_ENST00000409467.1_Missense_Mutation_p.S279Y	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	330					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										CTGTAAAATAGAGTTGGCTAC	0.358																																							uc003tdk.2		NA																	0				ovary(1)	1						c.(988-990)TCT>TAT		5'-nucleotidase, cytosolic III isoform 1							95.0	97.0	96.0					7																	33054364		2203	4298	6501	SO:0001583	missense	51251				nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr7:33054364G>T	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.989C>A	7.37:g.33054364G>T	ENSP00000242210:p.Ser330Tyr					AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.S291Y|NT5C3_uc003tdj.2_Missense_Mutation_p.S291Y	p.S330Y	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		9	1066	-			330					A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.989C>A	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013705	0.93404	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.94	5.94	0.96194	HAD-like domain (1);	0.055194	0.85682	D	0.000000	D	0.89887	0.6845	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70227	0.963;0.968	D	0.88416	0.3025	10	0.46703	T	0.11	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	330;291	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	Y	279;291;330;291;279	ENSP00000371039:S279Y;ENSP00000379456:S291Y;ENSP00000242210:S330Y;ENSP00000385261:S291Y;ENSP00000387166:S279Y	ENSP00000242210:S330Y	S	-	2	0	NT5C3	33020889	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.831000	0.99420	2.820000	0.97059	0.650000	0.86243	TCT		0.358	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		6	43	1	0	0.00307968	0.00308	0.00319493	6	43				
GRM3	2913	broad.mit.edu	37	7	86416308	86416308	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:86416308G>T	ENST00000361669.2	+	3	2299	c.1200G>T	c.(1198-1200)atG>atT	p.M400I	GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.M400I|GRM3_ENST00000394720.2_Missense_Mutation_p.M398I|GRM3_ENST00000536043.1_Missense_Mutation_p.M272I|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	400					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)					TGTATGCCATGGCCCACGCTT	0.527																																					GBM(52;969 1098 3139 52280)	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.(1198-1200)ATG>ATT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						183.0	154.0	164.0					7																	86416308		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416308G>T		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.1200G>T	7.37:g.86416308G>T	ENSP00000355316:p.Met400Ile					GRM3_uc010lef.2_Missense_Mutation_p.M398I|GRM3_uc010leg.2_Missense_Mutation_p.M272I|GRM3_uc010leh.2_Intron	p.M400I	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	2299	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		400			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1200G>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360560	0.61403	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.78	5.78	0.91487	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	L	0.28054	0.825	0.80722	D	1	B;B;B	0.29270	0.064;0.24;0.08	B;B;B	0.33392	0.094;0.163;0.093	T	0.71859	-0.4465	10	0.45353	T	0.12	.	18.9941	0.92806	0.0:0.0:1.0:0.0	.	272;400;400	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	I	400;272;400;398	ENSP00000355316:M400I;ENSP00000441407:M272I;ENSP00000398767:M400I;ENSP00000378209:M398I	ENSP00000355316:M400I	M	+	3	0	GRM3	86254244	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.754000	0.98908	2.720000	0.93068	0.655000	0.94253	ATG		0.527	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			63	62	1	0	6.75472e-32	0.00361	1.10875e-31	63	62				
ZAN	7455	broad.mit.edu	37	7	100350269	100350269	+	RNA	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:100350269G>T	ENST00000348028.3	+	0	2706				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATCCCCATGGAAAAACCCA	0.498																																							uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2539-2541)ATG>ATT		zonadhesin isoform 3							262.0	298.0	287.0					7																	100350269		1866	4116	5982			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350269G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350269G>T						ZAN_uc003uwk.2_Missense_Mutation_p.M847I|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.M847I	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2706	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		847			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.2541G>T		.	.	.	.	.	.	.	.	.	.	g	1.352	-0.591144	0.03799	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.68331	-0.32;-0.32;-0.32	3.8	-7.61	0.01299	.	.	.	.	.	T	0.45034	0.1322	N	0.14661	0.345	0.09310	N	0.999993	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.004	T	0.56007	-0.8050	9	0.42905	T	0.14	.	11.5648	0.50798	0.1092:0.0:0.1434:0.7474	.	847;847	F5H0T8;Q9Y493	.;ZAN_HUMAN	I	847	ENSP00000445943:M847I;ENSP00000445091:M847I;ENSP00000444427:M847I	ENSP00000423579:M847I	M	+	3	0	ZAN	100188205	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-10.265000	0.00007	-6.121000	0.00006	-2.256000	0.00281	ATG		0.498	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		57	65	1	0	2.40265e-35	0.00361	4.00977e-35	57	65				
RELN	5649	broad.mit.edu	37	7	103191515	103191515	+	Splice_Site	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:103191515C>T	ENST00000428762.1	-	41	6460	c.6301G>A	c.(6301-6303)Gga>Aga	p.G2101R	RELN_ENST00000424685.2_Splice_Site_p.G2101R|RELN_ENST00000343529.5_Splice_Site_p.G2101R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2101					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTCCTTACCCACAAAGGTGC	0.527																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6301-6303)GGA>AGA		reelin isoform a							46.0	35.0	39.0					7																	103191515		2203	4300	6503	SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191515C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6302+1G>A	7.37:g.103191515C>T						RELN_uc010liz.2_Missense_Mutation_p.G2101R	p.G2101R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6461	-			2101					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6301G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155731	0.78114	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26067	1.76;1.76;1.76	5.87	5.87	0.94306	Neuraminidase (1);	0.053616	0.85682	D	0.000000	T	0.47710	0.1460	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.936;0.981	T	0.34254	-0.9836	10	0.72032	D	0.01	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	2101;2101	P78509-2;P78509	.;RELN_HUMAN	R	2101	ENSP00000392423:G2101R;ENSP00000345694:G2101R;ENSP00000388446:G2101R	ENSP00000345694:G2101R	G	-	1	0	RELN	102978751	1.000000	0.71417	0.983000	0.44433	0.323000	0.28346	7.180000	0.77674	2.775000	0.95449	0.650000	0.86243	GGA		0.527	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Missense_Mutation	12	14	0	0	0	0.001368	0	12	14				
TFEC	22797	broad.mit.edu	37	7	115580807	115580807	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:115580807G>T	ENST00000265440.7	-	8	1022	c.842C>A	c.(841-843)gCc>gAc	p.A281D	TFEC_ENST00000320239.7_Missense_Mutation_p.A252D|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Missense_Mutation_p.A214D	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	281	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ATCAGAAAAGGCTATAGCTTG	0.438																																							uc003vhj.1		NA																	0				large_intestine(1)	1						c.(841-843)GCC>GAC		transcription factor EC isoform a							175.0	165.0	169.0					7																	115580807		2203	4300	6503	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115580807G>T	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.842C>A	7.37:g.115580807G>T	ENSP00000265440:p.Ala281Asp					TFEC_uc003vhk.1_Missense_Mutation_p.A252D|TFEC_uc003vhl.3_3'UTR|TFEC_uc011kmw.1_3'UTR	p.A281D	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		8	1026	-			281			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.842C>A	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048595	0.36181	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.64260	-0.09;-0.09;-0.09	5.34	5.34	0.76211	.	0.265131	0.43919	D	0.000506	T	0.66096	0.2755	N	0.25890	0.77	0.43234	D	0.995133	P;D	0.71674	0.9;0.998	P;D	0.66979	0.49;0.948	T	0.58657	-0.7598	10	0.09338	T	0.73	-2.4266	19.0239	0.92925	0.0:0.0:1.0:0.0	.	252;281	O14948-2;O14948	.;TFEC_HUMAN	D	281;214;252	ENSP00000265440:A281D;ENSP00000387650:A214D;ENSP00000318676:A252D	ENSP00000265440:A281D	A	-	2	0	TFEC	115368043	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.920000	0.75799	2.487000	0.83934	0.650000	0.86243	GCC		0.438	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		57	141	1	0	4.1673e-28	0.00361	6.68645e-28	57	141				
DGKI	9162	broad.mit.edu	37	7	137341230	137341230	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:137341230G>A	ENST00000288490.5	-	4	663	c.663C>T	c.(661-663)tgC>tgT	p.C221C	DGKI_ENST00000424189.2_Silent_p.C221C|DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000446122.1_Silent_p.C221C	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	221					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCTGCTCAATGCAGGCGGTGT	0.438											OREG0018350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(661-663)TGC>TGT		diacylglycerol kinase, iota							149.0	155.0	153.0					7																	137341230		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137341230G>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.663C>T	7.37:g.137341230G>A			OREG0018350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1632	DGKI_uc003vtu.2_5'UTR	p.C221C	NM_004717	NP_004708	O75912	DGKI_HUMAN			4	664	-			221			Phorbol-ester/DAG-type 1.		A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.663C>T	CCDS5845.1																																																																																				0.438	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		68	68	0	0	0	0.00361	0	68	68				
KEL	3792	broad.mit.edu	37	7	142637441	142637441	+	IGR	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:142637441C>A	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.Q71K	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGTTCCAGACCAGAATCAAGA	0.532																																							uc003wca.2		NA																	0					0						c.(211-213)CAG>AAG		hypothetical protein LOC135927							88.0	84.0	85.0					7																	142637441		2203	4300	6503	SO:0001628	intergenic_variant	135927					extracellular region		g.chr7:142637441C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142637441C>A							p.Q71K	NM_178829	NP_849151	Q96L11	CG034_HUMAN			2	252	+	Melanoma(164;0.059)		46					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.211C>A	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.92|15.92	2.974761|2.974761	0.53720|0.53720	.|.	.|.	ENSG00000165131|ENSG00000165131	ENST00000458732|ENST00000409607	.|.	.|.	.|.	4.38|4.38	3.42|3.42	0.39159|0.39159	.|.	.|0.142143	.|0.32785	.|N	.|0.005642	T|T	0.46288|0.46288	0.1385|0.1385	L|L	0.43923|0.43923	1.385|1.385	0.27198|0.27198	N|N	0.960233|0.960233	.|D	.|0.60160	.|0.987	.|P	.|0.56823	.|0.807	T|T	0.26430|0.26430	-1.0103|-1.0103	5|9	.|0.51188	.|T	.|0.08	0.0215|0.0215	9.696|9.696	0.40158|0.40158	0.0:0.7883:0.2117:0.0|0.0:0.7883:0.2117:0.0	.|.	.|46	.|Q96L11	.|CG034_HUMAN	Q|K	76|71	.|.	.|ENSP00000386450:Q71K	P|Q	+|+	2|1	0|0	C7orf34|C7orf34	142347563|142347563	0.648000|0.648000	0.27313|0.27313	0.933000|0.933000	0.37362|0.37362	0.675000|0.675000	0.39556|0.39556	0.948000|0.948000	0.29096|0.29096	2.430000|2.430000	0.82344|0.82344	0.556000|0.556000	0.70494|0.70494	CCA|CAG		0.532	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		28	33	1	0	4.7796e-09	0.004656	5.80297e-09	28	33				
OR2A25	392138	broad.mit.edu	37	7	143771391	143771391	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:143771391T>G	ENST00000408898.2	+	1	117	c.79T>G	c.(79-81)Ttt>Gtt	p.F27V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GATGCTCCTCTTTGGGCTCTT	0.507																																							uc011ktx.1		NA																	0					0						c.(79-81)TTT>GTT		olfactory receptor, family 2, subfamily A,							79.0	85.0	83.0					7																	143771391		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771391T>G		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.79T>G	7.37:g.143771391T>G	ENSP00000386167:p.Phe27Val						p.F27V	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	79	+	Melanoma(164;0.0783)		27			Helical; Name=1; (Potential).		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.79T>G	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550670	0.45383	.	.	ENSG00000221933	ENST00000408898	T	0.04551	3.6	4.88	2.41	0.29592	.	.	.	.	.	T	0.10252	0.0251	M	0.89904	3.07	0.33990	D	0.648972	P	0.42456	0.78	B	0.38106	0.265	T	0.17048	-1.0382	9	0.87932	D	0	-2.9322	8.0478	0.30559	0.0:0.1771:0.0:0.8229	.	27	A4D2G3	O2A25_HUMAN	V	27	ENSP00000386167:F27V	ENSP00000386167:F27V	F	+	1	0	OR2A25	143402324	0.852000	0.29690	0.993000	0.49108	0.918000	0.54935	2.792000	0.47837	0.882000	0.36016	0.460000	0.39030	TTT		0.507	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			6	70	0	0	0	0.001168	0	6	70				
CSMD1	64478	broad.mit.edu	37	8	3565957	3565957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:3565957C>A	ENST00000520002.1	-	7	1543	c.988G>T	c.(988-990)Gga>Tga	p.G330*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G330*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G330*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G330*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G330*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.G330*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G330*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	330						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTATGGCTTCCATCCTTGCTG	0.453																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(988-990)GGA>TGA		CUB and Sushi multiple domains 1 precursor							95.0	97.0	96.0					8																	3565957		1993	4174	6167	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:3565957C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.988G>T	8.37:g.3565957C>A	ENSP00000430733:p.Gly330*						p.G330*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	7	1378	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	330			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.988G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.374418	0.98245	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.72	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	10.1681	0.42893	0.0:0.089:0.0:0.911	.	.	.	.	X	330;330;192;330;330;330	.	ENSP00000320445:G192X	G	-	1	0	CSMD1	3553365	1.000000	0.71417	0.997000	0.53966	0.210000	0.24377	3.429000	0.52800	0.433000	0.26313	-0.145000	0.13849	GGA		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	14	1	0	0.00829132	0.008291	0.00856598	10	14				
RP1L1	94137	broad.mit.edu	37	8	10480667	10480667	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:10480667C>A	ENST00000382483.3	-	2	268	c.45G>T	c.(43-45)gaG>gaT	p.E15D	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	15					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCAGGAAGCACTCACGGTGGC	0.647																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(43-45)GAG>GAT		retinitis pigmentosa 1-like 1							35.0	38.0	37.0					8																	10480667		1991	4148	6139	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480667C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.45G>T	8.37:g.10480667C>A	ENSP00000371923:p.Glu15Asp						p.E15D	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	274	-			15					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.45G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	10.90	1.482172	0.26598	.	.	ENSG00000183638	ENST00000382483	T	0.04454	3.62	4.52	1.46	0.22682	.	.	.	.	.	T	0.03827	0.0108	L	0.29908	0.895	0.09310	N	1	P	0.35272	0.493	B	0.32928	0.155	T	0.41324	-0.9515	9	0.56958	D	0.05	-9.4968	5.9391	0.19184	0.1407:0.5886:0.0:0.2707	.	15	A6NKC6	.	D	15	ENSP00000371923:E15D	ENSP00000371923:E15D	E	-	3	2	RP1L1	10518077	0.399000	0.25287	0.240000	0.24138	0.868000	0.49771	-0.038000	0.12144	0.531000	0.28639	0.306000	0.20318	GAG		0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			21	22	1	0	4.87955e-14	0.005443	6.70771e-14	21	22				
DLC1	10395	broad.mit.edu	37	8	13357463	13357463	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:13357463A>T	ENST00000276297.4	-	2	527	c.118T>A	c.(118-120)Ttg>Atg	p.L40M	DLC1_ENST00000316609.5_Missense_Mutation_p.L40M|DLC1_ENST00000511869.1_Missense_Mutation_p.L40M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	40					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTTGCCTGCAAGCTGTCAGCT	0.448																																							uc003wwm.2		NA																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(118-120)TTG>ATG		deleted in liver cancer 1 isoform 1							194.0	197.0	196.0					8																	13357463		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357463A>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.118T>A	8.37:g.13357463A>T	ENSP00000276297:p.Leu40Met					DLC1_uc003wwn.2_Missense_Mutation_p.L40M|DLC1_uc011kxy.1_Missense_Mutation_p.L40M	p.L40M	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			2	562	-			40					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.118T>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.695395	0.68386	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.30714	1.52;1.52;1.52	5.53	1.41	0.22369	.	0.564821	0.13680	N	0.370234	T	0.46132	0.1377	L	0.55990	1.75	0.21841	N	0.999517	D;D;D	0.89917	0.996;1.0;0.993	D;D;P	0.91635	0.943;0.999;0.759	T	0.19679	-1.0298	10	0.72032	D	0.01	.	8.1185	0.30957	0.681:0.252:0.067:0.0	.	40;40;40	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	M	40	ENSP00000276297:L40M;ENSP00000321034:L40M;ENSP00000425878:L40M	ENSP00000276297:L40M	L	-	1	2	DLC1	13401834	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.278000	0.33179	0.432000	0.26286	0.533000	0.62120	TTG		0.448	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		36	62	0	0	0	0.003755	0	36	62				
NPM2	10361	broad.mit.edu	37	8	21890716	21890716	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:21890716A>T	ENST00000397940.1	+	5	1361	c.346A>T	c.(346-348)Agt>Tgt	p.S116C	NPM2_ENST00000518119.1_Missense_Mutation_p.S116C|NPM2_ENST00000521157.1_Missense_Mutation_p.S116C|NPM2_ENST00000381530.5_Missense_Mutation_p.S116C|snoU13_ENST00000459495.1_RNA|NPM2_ENST00000520180.1_3'UTR|NPM2_ENST00000289820.6_Missense_Mutation_p.S116C			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	116					chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CGTGTTCCTCAGTGGCCAGGA	0.577																																							uc003xab.2		NA																	0					0						c.(346-348)AGT>TGT		nucleoplasmin 2							95.0	85.0	88.0					8																	21890716		2203	4300	6503	SO:0001583	missense	10361				chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding	g.chr8:21890716A>T	AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.346A>T	8.37:g.21890716A>T	ENSP00000381032:p.Ser116Cys					NPM2_uc003xac.2_Missense_Mutation_p.S116C|NPM2_uc003xad.2_Missense_Mutation_p.S116C|NPM2_uc003xae.2_Missense_Mutation_p.S116C|NPM2_uc003xaf.2_Missense_Mutation_p.S116C	p.S116C	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	5	1004	+			116					B3KSU0|D3DSQ8|Q6NVH6	Missense_Mutation	SNP	ENST00000397940.1	37	c.346A>T	CCDS6018.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115956	0.37339	.	.	ENSG00000158806	ENST00000521157;ENST00000397940;ENST00000522813;ENST00000518119;ENST00000289820;ENST00000381530	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	5.3	2.86	0.33363	Nucleoplasmin core (2);	0.126422	0.53938	N	0.000057	T	0.62612	0.2442	M	0.71581	2.175	0.29662	N	0.843133	D;D	0.71674	0.961;0.998	P;D	0.69142	0.736;0.962	T	0.60969	-0.7157	10	0.51188	T	0.08	-3.6782	9.9829	0.41824	0.7313:0.0:0.0:0.2687	.	116;116	Q6NVH6;Q86SE8	.;NPM2_HUMAN	C	116	ENSP00000429413:S116C;ENSP00000381032:S116C;ENSP00000428016:S116C;ENSP00000427741:S116C;ENSP00000289820:S116C;ENSP00000370941:S116C	ENSP00000289820:S116C	S	+	1	0	NPM2	21946662	1.000000	0.71417	0.997000	0.53966	0.362000	0.29581	1.402000	0.34600	0.071000	0.16664	-1.426000	0.01102	AGT		0.577	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253810.2	NM_182795		16	27	0	0	0	0.006122	0	16	27				
HR	55806	broad.mit.edu	37	8	21978725	21978725	+	Silent	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:21978725A>T	ENST00000381418.4	-	10	3700	c.2220T>A	c.(2218-2220)gcT>gcA	p.A740A	HR_ENST00000312841.8_Silent_p.A740A	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	740					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTGGGGTCTCAGCGGAATCGG	0.642																																							uc003xas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2218-2220)GCT>GCA		hairless protein isoform a							68.0	81.0	76.0					8																	21978725		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21978725A>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2220T>A	8.37:g.21978725A>T						HR_uc003xat.2_Silent_p.A740A	p.A740A	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	10	2885	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	740					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.2220T>A	CCDS6022.1																																																																																				0.642	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			42	47	0	0	0	0.00874	0	42	47				
STAR	6770	broad.mit.edu	37	8	38006204	38006204	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:38006204G>T	ENST00000276449.4	-	2	579	c.133C>A	c.(133-135)Cct>Act	p.P45T	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	45					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		CACGTGCTAGGGGTGGGGCCC	0.632																																							uc003xkv.1		NA																	0				ovary(1)	1						c.(133-135)CCT>ACT		steroidogenic acute regulatory protein isoform							43.0	48.0	46.0					8																	38006204		2202	4300	6502	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38006204G>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.133C>A	8.37:g.38006204G>T	ENSP00000276449:p.Pro45Thr					STAR_uc010lwc.1_Intron	p.P45T	NM_001007243	NP_001007244	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	2	397	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	45					Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.133C>A	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386129	0.61956	.	.	ENSG00000147465	ENST00000276449	D	0.85955	-2.05	5.28	2.4	0.29515	.	0.209202	0.51477	D	0.000089	D	0.85392	0.5686	M	0.76838	2.35	0.34404	D	0.69565	B	0.27117	0.168	B	0.34991	0.193	D	0.85310	0.1078	10	0.59425	D	0.04	-2.7844	11.0121	0.47669	0.0671:0.242:0.6909:0.0	.	45	P49675	STAR_HUMAN	T	45	ENSP00000276449:P45T	ENSP00000276449:P45T	P	-	1	0	STAR	38125361	0.995000	0.38212	0.003000	0.11579	0.036000	0.12997	2.253000	0.43205	0.271000	0.22005	0.462000	0.41574	CCT		0.632	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		16	56	1	0	1.33834e-09	0.007413	1.64896e-09	16	56				
SNTG1	54212	broad.mit.edu	37	8	51314833	51314833	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:51314833C>A	ENST00000522124.1	+	4	752	c.91C>A	c.(91-93)Cta>Ata	p.L31I	SNTG1_ENST00000518864.1_Missense_Mutation_p.L31I|SNTG1_ENST00000517473.1_Missense_Mutation_p.L31I|SNTG1_ENST00000276467.5_Missense_Mutation_p.L31I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	31					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCGGCTGCACCTAGCCAAAGA	0.388																																							uc010lxy.1		NA																	0				ovary(5)	5						c.(91-93)CTA>ATA		syntrophin, gamma 1							194.0	191.0	192.0					8																	51314833		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51314833C>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.91C>A	8.37:g.51314833C>A	ENSP00000429842:p.Leu31Ile					SNTG1_uc003xqs.1_Missense_Mutation_p.L31I|SNTG1_uc010lxz.1_Missense_Mutation_p.L31I|SNTG1_uc011ldl.1_RNA	p.L31I	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			5	462	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	31					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.91C>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354492	0.61293	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000523085;ENST00000276467	T;T;T;T	0.45668	0.89;0.89;1.63;1.63	4.96	4.09	0.47781	PDZ/DHR/GLGF (1);	0.000000	0.64402	D	0.000001	T	0.61489	0.2351	M	0.79693	2.465	0.58432	D	0.999998	D;P	0.89917	1.0;0.956	D;D	0.91635	0.999;0.931	T	0.63260	-0.6677	10	0.72032	D	0.01	.	6.797	0.23731	0.0:0.7173:0.0:0.2827	.	31;31	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	I	31	ENSP00000429276:L31I;ENSP00000429842:L31I;ENSP00000431123:L31I;ENSP00000276467:L31I	ENSP00000276467:L31I	L	+	1	2	SNTG1	51477386	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.318000	0.51975	1.102000	0.41551	-0.137000	0.14449	CTA		0.388	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			30	61	1	0	1.88708e-17	0.008361	2.72943e-17	30	61				
TCEA1	6917	broad.mit.edu	37	8	54906316	54906316	+	Splice_Site	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:54906316C>T	ENST00000521604.2	-	4	636		c.e4-1		TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000396401.3_Splice_Site|TCEA1_ENST00000520534.1_Splice_Site|TCEA1_ENST00000521086.2_Splice_Site	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1						DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GATGGCCCATCTGAAAATTAT	0.368			T	PLAG1	salivary adenoma																																		uc003xru.2		NA		Dom	yes		8	8q11.2	6917	T	"""transcription elongation factor A (SII), 1"""			E	PLAG1		salivary adenoma		0					0						c.e4-1		transcription elongation factor A 1 isoform 1							153.0	141.0	145.0					8																	54906316		1816	4085	5901	SO:0001630	splice_region_variant	6917				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding	g.chr8:54906316C>T	X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"""General transcription factors"""	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.233-1G>A	8.37:g.54906316C>T						TCEA1_uc003xrv.2_Splice_Site_p.D57_splice|TCEA1_uc011ldw.1_Intron|TCEA1_uc003xrw.1_Splice_Site	p.D78_splice	NM_006756	NP_006747	P23193	TCEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)		4	556	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)						A6NF25|A8K339|Q15563|Q6FG87	Splice_Site	SNP	ENST00000521604.2	37	c.233_splice	CCDS47858.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355669	0.82243	.	.	ENSG00000187735	ENST00000396401;ENST00000521604;ENST00000520534	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4354	0.90643	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TCEA1	55068869	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.978000	0.76147	2.407000	0.81776	0.591000	0.81541	.		0.368	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377975.2	NM_006756	Intron	32	75	0	0	0	0.003755	0	32	75				
C8orf34	116328	broad.mit.edu	37	8	69445345	69445345	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:69445345G>A	ENST00000539993.1	+	7	1357	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	C8orf34_ENST00000348340.2_Missense_Mutation_p.E270K|C8orf34_ENST00000337103.4_Missense_Mutation_p.E245K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E356K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	270								p.E270Q(1)|p.E245Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGTAACAGAAGAAGATATTGA	0.358																																							uc010lyz.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(808-810)GAA>AAA		hypothetical protein LOC116328							110.0	107.0	108.0					8																	69445345		2203	4299	6502	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69445345G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.808G>A	8.37:g.69445345G>A	ENSP00000438159:p.Glu270Lys					C8orf34_uc010lyy.1_Missense_Mutation_p.E270K|C8orf34_uc003xyb.2_Missense_Mutation_p.E245K	p.E270K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		7	857	+			270					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.808G>A		.	.	.	.	.	.	.	.	.	.	G	28.1	4.890455	0.91889	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.49432	0.78;0.81;0.81	5.54	5.54	0.83059	.	0.208186	0.49916	N	0.000129	T	0.49949	0.1587	L	0.43152	1.355	0.47153	D	0.999339	P;B	0.49559	0.925;0.286	P;B	0.47162	0.54;0.169	T	0.40213	-0.9575	9	.	.	.	-15.4966	19.4567	0.94895	0.0:0.0:1.0:0.0	.	270;270	Q49A92;Q49A92-3	CH034_HUMAN;.	K	356;270;270;245	ENSP00000427820:E356K;ENSP00000438159:E270K;ENSP00000337174:E245K	.	E	+	1	0	C8orf34	69607899	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.802000	0.91910	2.609000	0.88269	0.591000	0.81541	GAA		0.358	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		8	120	0	0	0	0.004482	0	8	120				
XKR9	389668	broad.mit.edu	37	8	71619241	71619241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:71619241G>T	ENST00000408926.3	+	4	880	c.346G>T	c.(346-348)Gaa>Taa	p.E116*	XKR9_ENST00000520030.1_Nonsense_Mutation_p.E116*|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	116						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTTCGTGGAAGAACAAATTGA	0.358																																							uc003xyq.2		NA																	0				ovary(1)|skin(1)	2						c.(346-348)GAA>TAA		XK, Kell blood group complex subunit-related							90.0	90.0	90.0					8																	71619241		2203	4300	6503	SO:0001587	stop_gained	389668					integral to membrane		g.chr8:71619241G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.346G>T	8.37:g.71619241G>T	ENSP00000386141:p.Glu116*					XKR9_uc010lze.2_Nonsense_Mutation_p.E116*|XKR9_uc010lzd.2_5'UTR	p.E116*	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		4	880	+	Breast(64;0.0716)		116					B2RNS9|B9EH74	Nonsense_Mutation	SNP	ENST00000408926.3	37	c.346G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	38	6.963376	0.97967	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	.	.	.	5.29	4.42	0.53409	.	0.351068	0.28754	N	0.014255	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-15.6184	11.8836	0.52589	0.0819:0.0:0.9181:0.0	.	.	.	.	X	116	.	ENSP00000386141:E116X	E	+	1	0	XKR9	71781795	0.295000	0.24389	0.843000	0.33291	0.482000	0.33219	1.720000	0.38022	1.238000	0.43771	0.557000	0.71058	GAA		0.358	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		36	44	1	0	7.11191e-15	0.002836	9.96866e-15	36	44				
KCNB2	9312	broad.mit.edu	37	8	73848718	73848718	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:73848718C>A	ENST00000523207.1	+	3	1716	c.1128C>A	c.(1126-1128)acC>acA	p.T376T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	376					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGTGGGCCACCATCACCATGA	0.448																																							uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1126-1128)ACC>ACA		potassium voltage-gated channel, Shab-related							107.0	106.0	106.0					8																	73848718		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848718C>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1128C>A	8.37:g.73848718C>A							p.T376T	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1716	+	Breast(64;0.137)		376					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1128C>A	CCDS6209.1																																																																																				0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		51	109	1	0	8.94452e-30	0.00361	1.44913e-29	51	109				
KCNB2	9312	broad.mit.edu	37	8	73849039	73849039	+	Silent	SNP	C	C	T	rs555669570		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:73849039C>T	ENST00000523207.1	+	3	2037	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	483					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ACTCCGCCGACGATAATCACC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		16505	0.0		0.0	False		,,,				2504	0.001						uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1447-1449)GAC>GAT		potassium voltage-gated channel, Shab-related							79.0	87.0	84.0					8																	73849039		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849039C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1449C>T	8.37:g.73849039C>T							p.D483D	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2037	+	Breast(64;0.137)		483			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1449C>T	CCDS6209.1																																																																																				0.512	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		47	107	0	0	0	0.00361	0	47	107				
KIAA1429	25962	broad.mit.edu	37	8	95541541	95541541	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:95541541G>A	ENST00000297591.5	-	7	712	c.637C>T	c.(637-639)Cat>Tat	p.H213Y	KIAA1429_ENST00000437199.1_Missense_Mutation_p.H213Y|KIAA1429_ENST00000421249.2_Missense_Mutation_p.H213Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	213	Glu-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTTCTCTATGAGGAGCATCC	0.403																																							uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.(637-639)CAT>TAT		hypothetical protein LOC25962 isoform 1							104.0	96.0	98.0					8																	95541541		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95541541G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.637C>T	8.37:g.95541541G>A	ENSP00000297591:p.His213Tyr					KIAA1429_uc003ygp.2_Missense_Mutation_p.H213Y|KIAA1429_uc010maz.1_5'Flank	p.H213Y	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		7	650	-	Breast(36;3.29e-05)		213			Glu-rich.		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.637C>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083870	0.55861	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.42900	0.97;0.97;0.96	5.11	5.11	0.69529	.	0.182827	0.48767	D	0.000164	T	0.33265	0.0857	N	0.19112	0.55	0.50313	D	0.999865	B;B	0.29085	0.232;0.232	B;B	0.31245	0.126;0.079	T	0.09164	-1.0687	10	0.32370	T	0.25	-15.6138	18.9064	0.92464	0.0:0.0:1.0:0.0	.	213;213	Q69YN4-4;Q69YN4	.;VIR_HUMAN	Y	213	ENSP00000297591:H213Y;ENSP00000395600:H213Y;ENSP00000398390:H213Y	ENSP00000297591:H213Y	H	-	1	0	KIAA1429	95610717	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.666000	0.68059	2.535000	0.85469	0.591000	0.81541	CAT		0.403	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		3	44	0	0	0	0.004672	0	3	44				
DCSTAMP	81501	broad.mit.edu	37	8	105367256	105367256	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:105367256C>G	ENST00000297581.2	+	3	1230	c.1181C>G	c.(1180-1182)tCc>tGc	p.S394C	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	394					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GGACTGTTGTCCTCTATCCTT	0.423																																							uc003ylx.1		NA																	0				pancreas(2)|large_intestine(1)|ovary(1)	4						c.(1180-1182)TCC>TGC		dendritic cell-specific transmembrane protein							141.0	137.0	138.0					8																	105367256		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367256C>G	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1181C>G	8.37:g.105367256C>G	ENSP00000297581:p.Ser394Cys						p.S394C	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	1230	+			394			Helical; (Potential).		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.1181C>G	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357622	0.82243	.	.	ENSG00000164935	ENST00000297581	T	0.33216	1.42	5.44	5.44	0.79542	Dendritic cell-specific transmembrane protein-like (1);	0.109608	0.64402	D	0.000005	T	0.58308	0.2113	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.61422	-0.7066	10	0.72032	D	0.01	-20.1966	17.7975	0.88577	0.0:1.0:0.0:0.0	.	394	Q9H295	TM7S4_HUMAN	C	394	ENSP00000297581:S394C	ENSP00000297581:S394C	S	+	2	0	TM7SF4	105436432	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.156000	0.71840	2.700000	0.92200	0.655000	0.94253	TCC		0.423	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		20	62	0	0	0	0.010504	0	20	62				
CSMD3	114788	broad.mit.edu	37	8	113301716	113301716	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:113301716T>A	ENST00000297405.5	-	57	9270	c.9026A>T	c.(9025-9027)gAg>gTg	p.E3009V	CSMD3_ENST00000343508.3_Missense_Mutation_p.E2969V|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2939V|CSMD3_ENST00000455883.2_Missense_Mutation_p.E2840V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3009	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						AGTATACTTCTCGCCAGACAG	0.408										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.(9025-9027)GAG>GTG		CUB and Sushi multiple domains 3 isoform 1							71.0	63.0	66.0					8																	113301716		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113301716T>A	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.9026A>T	8.37:g.113301716T>A	ENSP00000297405:p.Glu3009Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.E2211V|CSMD3_uc003ynt.2_Missense_Mutation_p.E2969V|CSMD3_uc011lhx.1_Missense_Mutation_p.E2840V	p.E3009V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			57	9185	-			3009			Sushi 21.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9026A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839393	0.91117	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	6.01	6.01	0.97437	Complement control module (2);Sushi/SCR/CCP (3);	0.148897	0.44097	D	0.000484	T	0.69797	0.3151	L	0.57130	1.785	0.58432	D	0.999991	P;P;B	0.37141	0.584;0.453;0.101	B;B;B	0.43360	0.396;0.417;0.062	T	0.68364	-0.5428	10	0.37606	T	0.19	.	16.5206	0.84315	0.0:0.0:0.0:1.0	.	2840;3009;2969	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	2969;3009;2279;2840;2939	ENSP00000345799:E2969V;ENSP00000297405:E3009V;ENSP00000341558:E2279V;ENSP00000412263:E2840V;ENSP00000343124:E2939V	ENSP00000297405:E3009V	E	-	2	0	CSMD3	113370892	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.013000	0.88655	2.299000	0.77371	0.533000	0.62120	GAG		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		25	46	0	0	0	0.00333	0	25	46				
FAM135B	51059	broad.mit.edu	37	8	139145008	139145008	+	Missense_Mutation	SNP	A	A	T	rs547952079		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:139145008A>T	ENST00000395297.1	-	20	4219	c.4049T>A	c.(4048-4050)cTg>cAg	p.L1350Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1350										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGAGGGCCCAGGAGGTTGTT	0.527										HNSCC(54;0.14)																													uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(4048-4050)CTG>CAG		hypothetical protein LOC51059							187.0	194.0	192.0					8																	139145008		1965	4148	6113	SO:0001583	missense	51059							g.chr8:139145008A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4049T>A	8.37:g.139145008A>T	ENSP00000378710:p.Leu1350Gln	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.L1251Q|FAM135B_uc003yuz.2_RNA	p.L1350Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4220	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1350					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4049T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	26.6	4.751400	0.89753	.	.	ENSG00000147724	ENST00000395297	T	0.29655	1.56	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000003	T	0.60753	0.2293	M	0.85197	2.74	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.67409	-0.5678	10	0.87932	D	0	-14.8795	15.2154	0.73261	1.0:0.0:0.0:0.0	.	1350	Q49AJ0	F135B_HUMAN	Q	1350	ENSP00000378710:L1350Q	ENSP00000378710:L1350Q	L	-	2	0	FAM135B	139214190	1.000000	0.71417	0.359000	0.25824	0.985000	0.73830	9.339000	0.96797	2.198000	0.70561	0.533000	0.62120	CTG		0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		59	164	0	0	0	0.00361	0	59	164				
FAM135B	51059	broad.mit.edu	37	8	139164809	139164809	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:139164809G>T	ENST00000395297.1	-	13	2079	c.1909C>A	c.(1909-1911)Ccc>Acc	p.P637T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	637										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTCAGAGGGGGTGAGTTTC	0.473										HNSCC(54;0.14)																													uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(1909-1911)CCC>ACC		hypothetical protein LOC51059							102.0	102.0	102.0					8																	139164809		1891	4123	6014	SO:0001583	missense	51059							g.chr8:139164809G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1909C>A	8.37:g.139164809G>T	ENSP00000378710:p.Pro637Thr	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.P538T|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.P199T|FAM135B_uc003yvb.2_Missense_Mutation_p.P199T	p.P637T	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2080	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		637					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1909C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408234	0.42715	.	.	ENSG00000147724	ENST00000395297	T	0.36340	1.26	5.65	2.49	0.30216	.	0.618396	0.16421	N	0.215143	T	0.40145	0.1105	M	0.65975	2.015	0.09310	N	1	D;D;B	0.56746	0.977;0.959;0.335	P;P;B	0.51016	0.656;0.564;0.086	T	0.30707	-0.9969	10	0.59425	D	0.04	-19.6414	3.3134	0.07025	0.0934:0.3246:0.4137:0.1683	.	637;637;637	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	T	637	ENSP00000378710:P637T	ENSP00000276737:P637T	P	-	1	0	FAM135B	139233991	0.737000	0.28175	0.066000	0.19879	0.020000	0.10135	2.643000	0.46604	1.391000	0.46566	-0.165000	0.13383	CCC		0.473	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		25	60	1	0	1.66031e-10	0.003954	2.09745e-10	25	60				
COL22A1	169044	broad.mit.edu	37	8	139706771	139706771	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:139706771G>T	ENST00000303045.6	-	34	3126	c.2680C>A	c.(2680-2682)Cag>Aag	p.Q894K	COL22A1_ENST00000435777.1_Missense_Mutation_p.Q894K|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	894	Collagen-like 7.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTGGGTCCCTGAGGCCCCAAT	0.612										HNSCC(7;0.00092)																													uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(2680-2682)CAG>AAG		collagen, type XXII, alpha 1							98.0	88.0	92.0					8																	139706771		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139706771G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2680C>A	8.37:g.139706771G>T	ENSP00000303153:p.Gln894Lys	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.Q194K	p.Q894K	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		34	3127	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		894			Pro-rich.|Gly-rich.|Collagen-like 7.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2680C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	1.018	-0.685745	0.03328	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94092	-3.1;-3.35	3.92	3.04	0.35103	.	0.170048	0.27060	U	0.021125	D	0.83626	0.5295	N	0.05280	-0.08	0.09310	N	0.999998	B;P	0.36990	0.002;0.577	B;P	0.45276	0.003;0.475	T	0.76647	-0.2882	10	0.02654	T	1	.	7.4713	0.27351	0.1169:0.0:0.8831:0.0	.	894;894	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	K	894;894;607	ENSP00000303153:Q894K;ENSP00000387655:Q894K	ENSP00000303153:Q894K	Q	-	1	0	COL22A1	139775953	0.995000	0.38212	0.985000	0.45067	0.099000	0.18886	3.803000	0.55560	1.240000	0.43803	0.655000	0.94253	CAG		0.612	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		9	69	1	0	2.80697e-09	0.000978	3.44147e-09	9	69				
GLDC	2731	broad.mit.edu	37	9	6610267	6610267	+	Missense_Mutation	SNP	G	G	A	rs386833582		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:6610267G>A	ENST00000321612.6	-	4	710	c.560C>T	c.(559-561)aCa>aTa	p.T187I		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	187					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GTCCAGGCCTGTGATGTCACA	0.567																																							uc003zkc.2		NA																	0				ovary(2)	2	GRCh37	CM061014	GLDC	M		c.(559-561)ACA>ATA		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						70.0	55.0	60.0					9																	6610267		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6610267G>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.560C>T	9.37:g.6610267G>A	ENSP00000370737:p.Thr187Ile						p.T187I	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	4	753	-		Acute lymphoblastic leukemia(23;0.161)	187					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.560C>T	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873267	0.91664	.	.	ENSG00000178445	ENST00000321612	D	0.96967	-4.19	5.49	5.49	0.81192	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99048	0.9674	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99035	1.0822	10	0.87932	D	0	-15.2429	19.7382	0.96215	0.0:0.0:1.0:0.0	.	187	P23378	GCSP_HUMAN	I	187	ENSP00000370737:T187I	ENSP00000370737:T187I	T	-	2	0	GLDC	6600267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.744000	0.94065	0.650000	0.86243	ACA		0.567	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		9	8	0	0	0	0.004482	0	9	8				
FRMPD1	22844	broad.mit.edu	37	9	37732369	37732369	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:37732369G>T	ENST00000539465.1	+	10	1520	c.927G>T	c.(925-927)gcG>gcT	p.A309A	FRMPD1_ENST00000541302.1_Silent_p.A178A|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.A131A|FRMPD1_ENST00000377765.3_Silent_p.A309A			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	309	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCCGACTCGCGGCTCTGCACA	0.507																																							uc004aag.1		NA																	0		p.A309P(1)		ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(925-927)GCG>GCT		FERM and PDZ domain containing 1							62.0	63.0	63.0					9																	37732369		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37732369G>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.927G>T	9.37:g.37732369G>T						FRMPD1_uc004aah.1_Silent_p.A309A|FRMPD1_uc011lqm.1_Silent_p.A131A|FRMPD1_uc011lqn.1_Silent_p.A178A	p.A309A	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	10	971	+			309			FERM.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.927G>T	CCDS6612.1																																																																																				0.507	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		20	43	1	0	3.51602e-12	0.008871	4.61708e-12	20	43				
FRMPD1	22844	broad.mit.edu	37	9	37740320	37740320	+	Missense_Mutation	SNP	G	G	A	rs373854213		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:37740320G>A	ENST00000539465.1	+	15	2388	c.1795G>A	c.(1795-1797)Ggc>Agc	p.G599S	FRMPD1_ENST00000541302.1_Missense_Mutation_p.G468S|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.G421S|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G599S			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	599						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TGAGAGCCGCGGCTACAGGAC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16702	0.0		0.0	False		,,,				2504	0.001						uc004aag.1		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(1795-1797)GGC>AGC		FERM and PDZ domain containing 1		G	SER/GLY	0,4386		0,0,2193	35.0	36.0	36.0		1795	5.7	1.0	9		36	1,8563		0,1,4281	no	missense	FRMPD1	NM_014907.2	56	0,1,6474	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	599/1579	37740320	1,12949	2193	4282	6475	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740320G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1795G>A	9.37:g.37740320G>A	ENSP00000444411:p.Gly599Ser					FRMPD1_uc004aah.1_Missense_Mutation_p.G599S|FRMPD1_uc011lqm.1_Missense_Mutation_p.G421S|FRMPD1_uc011lqn.1_Missense_Mutation_p.G468S	p.G599S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	1839	+			599					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.1795G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635941	0.87760	0.0	1.17E-4	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.24151	2.7;2.7;1.87;1.9	5.72	5.72	0.89469	.	0.243363	0.41605	N	0.000854	T	0.48909	0.1526	M	0.61703	1.905	0.40485	D	0.980483	D;D	0.89917	1.0;0.999	D;P	0.70016	0.967;0.78	T	0.38520	-0.9657	10	0.46703	T	0.11	-26.5665	17.3575	0.87341	0.0:0.0:1.0:0.0	.	468;599	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	S	599;599;421;468	ENSP00000366995:G599S;ENSP00000444411:G599S;ENSP00000437762:G421S;ENSP00000444804:G468S	ENSP00000366995:G599S	G	+	1	0	FRMPD1	37730320	1.000000	0.71417	0.977000	0.42913	0.764000	0.43329	4.414000	0.59802	2.706000	0.92434	0.491000	0.48974	GGC		0.632	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		4	55	0	0	0	0.009096	0	4	55				
PRUNE2	158471	broad.mit.edu	37	9	79323771	79323771	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:79323771T>C	ENST00000376718.3	-	8	3542	c.3419A>G	c.(3418-3420)gAc>gGc	p.D1140G	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D781G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1140					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCCACTGCAGTCATCCCAGTC	0.517																																							uc010mpk.2		NA																	0					0						c.(3418-3420)GAC>GGC		prune homolog 2							125.0	114.0	117.0					9																	79323771		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323771T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3419A>G	9.37:g.79323771T>C	ENSP00000365908:p.Asp1140Gly						p.D1140G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	3543	-			1140					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3419A>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.1|22.1	4.248537|4.248537	0.80024|0.80024	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.55760|.	0.5;0.5|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|.	0.56963|.	0.2021|.	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|.	0.53165|.	-0.8477|.	10|.	0.54805|.	T|.	0.06|.	-23.0343|-23.0343	15.2149|15.2149	0.73258|0.73258	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1140|.	Q8WUY3|.	PRUN2_HUMAN|.	G|W	1140;781;1139|461	ENSP00000365908:D1140G;ENSP00000397425:D781G|.	ENSP00000365908:D1140G|.	D|X	-|-	2|3	0|0	PRUNE2|PRUNE2	78513591|78513591	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	0.931000|0.931000	0.28871|0.28871	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAC|TGA		0.517	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		27	95	0	0	0	0.007291	0	27	95				
SPATA31D1	389763	broad.mit.edu	37	9	84606718	84606718	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:84606718A>T	ENST00000344803.2	+	4	1380	c.1333A>T	c.(1333-1335)Aac>Tac	p.N445Y		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	445					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACTTAGGCCAAACTACCAACT	0.413																																							uc004amn.2		NA																	0					0						c.(1333-1335)AAC>TAC		hypothetical protein LOC389763							90.0	82.0	85.0					9																	84606718		1895	4103	5998	SO:0001583	missense	389763					integral to membrane		g.chr9:84606718A>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1333A>T	9.37:g.84606718A>T	ENSP00000341988:p.Asn445Tyr						p.N445Y	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1380	+			445						Missense_Mutation	SNP	ENST00000344803.2	37	c.1333A>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885627	0.33255	.	.	ENSG00000214929	ENST00000344803	T	0.05447	3.44	3.28	-1.21	0.09524	.	2.456420	0.01472	N	0.016314	T	0.16727	0.0402	L	0.52573	1.65	0.09310	N	1	D	0.64830	0.994	D	0.68621	0.959	T	0.15065	-1.0450	10	0.72032	D	0.01	-1.6128	3.5186	0.07734	0.3927:0.1979:0.4094:0.0	.	445	Q6ZQQ2	F75D1_HUMAN	Y	445	ENSP00000341988:N445Y	ENSP00000341988:N445Y	N	+	1	0	FAM75D1	83796538	0.014000	0.17966	0.001000	0.08648	0.001000	0.01503	0.259000	0.18405	-0.382000	0.07870	-1.274000	0.01402	AAC		0.413	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		7	69	0	0	0	0.004482	0	7	69				
FRMD3	257019	broad.mit.edu	37	9	85950556	85950556	+	Splice_Site	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:85950556T>A	ENST00000304195.3	-	6	679		c.e6-2		FRMD3_ENST00000376438.1_Splice_Site	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CAAGCTCAGCTGTAATGAGTG	0.413																																							uc004ams.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e6-1		FERM domain containing 3							75.0	64.0	67.0					9																	85950556		1849	4097	5946	SO:0001630	splice_region_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85950556T>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.473-2A>T	9.37:g.85950556T>A						FRMD3_uc004amr.1_Splice_Site_p.A144_splice	p.A158_splice	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			6	675	-								A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Splice_Site	SNP	ENST00000304195.3	37	c.473_splice	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234796	0.79800	.	.	ENSG00000172159	ENST00000376438;ENST00000304195;ENST00000376422	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2765	0.73745	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRMD3	85140376	1.000000	0.71417	0.996000	0.52242	0.893000	0.52053	7.824000	0.86668	2.076000	0.62316	0.482000	0.46254	.		0.413	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938	Intron	3	13	0	0	0	0.004672	0	3	13				
SPATA31C2	645961	broad.mit.edu	37	9	90745720	90745720	+	IGR	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:90745720G>T								U6 (132470 upstream) : U3 (243463 downstream)																							TCCCTCGCGGGGCCCTCTGGA	0.562																																							uc011lti.1		NA																	0					NA						c.(2230-2232)GCC>GCA		SubName: Full=cDNA FLJ59639;							9.0	11.0	10.0					9																	90745720		691	1590	2281	SO:0001628	intergenic_variant	0							g.chr9:90745720G>T																													9.37:g.90745720G>T						uc004apx.1_5'Flank	p.A744A							4	2261	-									Silent	SNP		37	c.2232C>A																																																																																				0	0.562									5	60	1	0	0.00116845	0.001168	0.00124054	5	60				
INVS	27130	broad.mit.edu	37	9	103046619	103046619	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:103046619A>T	ENST00000262457.2	+	13	1987	c.1802A>T	c.(1801-1803)aAc>aTc	p.N601I	INVS_ENST00000262456.2_Missense_Mutation_p.N601I|INVS_ENST00000541287.1_Missense_Mutation_p.N505I	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	601					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GAGGAAGAAAACAAACGAAAA	0.468																																							uc004bap.1		NA																	0				ovary(2)	2						c.(1801-1803)AAC>ATC		inversin isoform a							48.0	51.0	50.0					9																	103046619		2156	4229	6385	SO:0001583	missense	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103046619A>T	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1802A>T	9.37:g.103046619A>T	ENSP00000262457:p.Asn601Ile					INVS_uc011lve.1_Missense_Mutation_p.N505I|INVS_uc004bao.1_Missense_Mutation_p.N601I|INVS_uc004baq.1_Missense_Mutation_p.N505I|INVS_uc004bar.1_Missense_Mutation_p.N505I|INVS_uc010mtb.1_Missense_Mutation_p.N275I	p.N601I	NM_014425	NP_055240	Q9Y283	INVS_HUMAN			13	2014	+		Acute lymphoblastic leukemia(62;0.056)	601					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.1802A>T	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311321	0.40895	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.42131	0.98;1.01;1.04	5.74	2.33	0.28932	.	0.351278	0.37053	N	0.002264	T	0.25457	0.0619	L	0.32530	0.975	0.34278	D	0.681774	B;B;B	0.16802	0.007;0.001;0.019	B;B;B	0.14023	0.01;0.002;0.007	T	0.13980	-1.0489	10	0.38643	T	0.18	.	2.6056	0.04878	0.5654:0.0:0.2151:0.2195	.	505;601;601	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	I	601;505;601	ENSP00000262457:N601I;ENSP00000444454:N505I;ENSP00000262456:N601I	ENSP00000262456:N601I	N	+	2	0	INVS	102086440	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	0.937000	0.28951	0.428000	0.26173	-0.336000	0.08194	AAC		0.468	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		32	40	0	0	0	0.002836	0	32	40				
PAPPA	5069	broad.mit.edu	37	9	119124912	119124912	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:119124912C>T	ENST00000328252.3	+	18	4758	c.4389C>T	c.(4387-4389)acC>acT	p.T1463T	PAPPA_ENST00000534838.1_Silent_p.T501T	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1463	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAGATGGCACCTGGAACGGCT	0.522																																							uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(4387-4389)ACC>ACT		pregnancy-associated plasma protein A							113.0	102.0	105.0					9																	119124912		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119124912C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4389C>T	9.37:g.119124912C>T						PAPPA_uc011lxq.1_Silent_p.T838T	p.T1463T	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			18	4770	+			1463			Sushi 4.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.4389C>T	CCDS6813.1																																																																																				0.522	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		6	72	0	0	0	0.001984	0	6	72				
PTGS1	5742	broad.mit.edu	37	9	125154739	125154739	+	Missense_Mutation	SNP	G	G	T	rs199627452		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:125154739G>T	ENST00000362012.2	+	11	1721	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N	PTGS1_ENST00000223423.4_Missense_Mutation_p.K535N|PTGS1_ENST00000540753.1_Missense_Mutation_p.K510N|PTGS1_ENST00000373698.5_Missense_Mutation_p.K463N	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	572					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCAACACCAAGACCTGTCCCT	0.582																																							uc004bmg.1		NA																	0				ovary(1)|skin(1)	2						c.(1714-1716)AAG>AAT		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	G	ASN/LYS,ASN/LYS	0,4406		0,0,2203	111.0	98.0	103.0		1605,1716	0.9	1.0	9		103	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	PTGS1	NM_080591.1,NM_000962.2	94,94	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	benign,benign	535/563,572/600	125154739	2,13004	2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154739G>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1716G>T	9.37:g.125154739G>T	ENSP00000354612:p.Lys572Asn					PTGS1_uc011lys.1_Missense_Mutation_p.K510N|PTGS1_uc010mwb.1_Missense_Mutation_p.K426N|PTGS1_uc004bmf.1_Missense_Mutation_p.K535N|PTGS1_uc004bmh.1_Missense_Mutation_p.K463N|PTGS1_uc011lyt.1_Missense_Mutation_p.K463N	p.K572N	NM_000962	NP_000953	P23219	PGH1_HUMAN			11	1851	+			572					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1716G>T	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653921	0.47362	0.0	2.33E-4	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	5.41	0.917	0.19380	.	0.085967	0.85682	N	0.000000	T	0.10895	0.0266	L	0.58810	1.83	0.58432	D	0.999991	B;B;B	0.13594	0.001;0.008;0.004	B;B;B	0.21917	0.029;0.037;0.025	T	0.08229	-1.0732	10	0.46703	T	0.11	-21.5743	7.1797	0.25765	0.2335:0.1374:0.6291:0.0	.	510;572;535	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	N	510;572;535;463	ENSP00000437709:K510N;ENSP00000354612:K572N;ENSP00000223423:K535N;ENSP00000362802:K463N	ENSP00000223423:K535N	K	+	3	2	PTGS1	124194560	0.989000	0.36119	0.998000	0.56505	0.980000	0.70556	1.310000	0.33551	0.238000	0.21222	0.655000	0.94253	AAG		0.582	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			43	42	1	0	6.2361e-21	0.007835	9.51626e-21	43	42				
C9orf171	389799	broad.mit.edu	37	9	135374887	135374887	+	Missense_Mutation	SNP	C	C	A	rs143736165		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:135374887C>A	ENST00000343036.2	+	4	580	c.532C>A	c.(532-534)Cgt>Agt	p.R178S	C9orf171_ENST00000393215.3_Missense_Mutation_p.R142S|C9orf171_ENST00000393216.2_Missense_Mutation_p.R142S	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	178										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTTGCTCTACCGTCAGCTCAA	0.612																																							uc004cbn.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(532-534)CGT>AGT		hypothetical protein LOC389799							88.0	89.0	88.0					9																	135374887		2203	4300	6503	SO:0001583	missense	389799							g.chr9:135374887C>A	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.532C>A	9.37:g.135374887C>A	ENSP00000343290:p.Arg178Ser					C9orf171_uc004cbo.2_Missense_Mutation_p.R142S	p.R178S	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			4	580	+			178					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.532C>A	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499436	0.64298	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.38240	1.15;1.15;1.15	5.26	2.22	0.28083	.	0.541167	0.18037	N	0.153745	T	0.49167	0.1541	L	0.57536	1.79	0.33929	D	0.641776	D;D	0.89917	0.999;1.0	D;D	0.80764	0.976;0.994	T	0.57894	-0.7732	10	0.72032	D	0.01	.	5.0058	0.14288	0.1458:0.5851:0.0:0.2691	.	142;178	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	S	142;178;142	ENSP00000376908:R142S;ENSP00000343290:R178S;ENSP00000376909:R142S	ENSP00000343290:R178S	R	+	1	0	C9orf171	134364708	1.000000	0.71417	0.531000	0.27976	0.757000	0.42996	2.037000	0.41174	0.232000	0.21100	-0.367000	0.07326	CGT		0.612	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		50	68	1	0	1.54886e-18	0.00361	2.28663e-18	50	68				
DBH	1621	broad.mit.edu	37	9	136521703	136521703	+	Missense_Mutation	SNP	C	C	A	rs78512658		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:136521703C>A	ENST00000393056.2	+	10	1505	c.1493C>A	c.(1492-1494)aCg>aAg	p.T498K	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	498					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TACCCCCAGACGCAGCTGGAG	0.632																																							uc004cel.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1492-1494)ACG>AAG		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)						57.0	57.0	57.0					9																	136521703		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136521703C>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1493C>A	9.37:g.136521703C>A	ENSP00000376776:p.Thr498Lys					uc010nao.1_Intron	p.T498K	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	10	1502	+			498			Intragranular (Potential).		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.1493C>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685698	0.68157	.	.	ENSG00000123454	ENST00000393056	T	0.75938	-0.98	4.63	3.66	0.41972	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.106321	0.64402	D	0.000005	D	0.86426	0.5930	M	0.87456	2.885	0.53688	D	0.999977	D	0.63046	0.992	D	0.69307	0.963	D	0.88946	0.3383	10	0.66056	D	0.02	-39.7413	14.0952	0.65016	0.0:0.8486:0.1514:0.0	.	498	P09172	DOPO_HUMAN	K	498	ENSP00000376776:T498K	ENSP00000376776:T498K	T	+	2	0	DBH	135511524	0.972000	0.33761	0.118000	0.21660	0.811000	0.45836	2.387000	0.44389	2.134000	0.65973	0.491000	0.48974	ACG		0.632	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		5	50	1	0	3.59834e-05	0.001168	3.94631e-05	5	50				
CACNA1B	774	broad.mit.edu	37	9	140938287	140938287	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:140938287G>A	ENST00000371372.1	+	21	3493	c.3348G>A	c.(3346-3348)gtG>gtA	p.V1116V	CACNA1B_ENST00000371355.4_Silent_p.V1117V|CACNA1B_ENST00000371357.1_Silent_p.V1117V|CACNA1B_ENST00000277549.5_Silent_p.V308V|CACNA1B_ENST00000277551.2_Silent_p.V1116V|CACNA1B_ENST00000545473.1_Silent_p.V142V|CACNA1B_ENST00000371363.1_Silent_p.V1116V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1116					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGATGACGTGATGAGGAGCG	0.602																																							uc004cog.2		NA																	0				breast(3)|large_intestine(2)|ovary(1)	6						c.(3346-3348)GTG>GTA		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						250.0	284.0	273.0					9																	140938287		2136	4228	6364	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140938287G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3348G>A	9.37:g.140938287G>A						CACNA1B_uc011mfd.1_Silent_p.V646V|CACNA1B_uc004coi.2_Silent_p.V326V	p.V1116V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	21	3493	+	all_cancers(76;0.166)		1116			Cytoplasmic (Potential).		B1AQK5	Silent	SNP	ENST00000371372.1	37	c.3348G>A	CCDS59522.1																																																																																				0.602	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		21	142	0	0	0	0.001882	0	21	142				
FAM47B	170062	broad.mit.edu	37	X	34962320	34962320	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:34962320C>A	ENST00000329357.5	+	1	1408	c.1372C>A	c.(1372-1374)Cac>Aac	p.H458N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	458										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCAACGTAGACACACATCGAG	0.483																																							uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(1372-1374)CAC>AAC		hypothetical protein LOC170062							121.0	110.0	114.0					X																	34962320		2202	4298	6500	SO:0001583	missense	170062							g.chrX:34962320C>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1372C>A	X.37:g.34962320C>A	ENSP00000328307:p.His458Asn						p.H458N	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1390	+			458					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1372C>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	T	1.037	-0.680066	0.03353	.	.	ENSG00000189132	ENST00000329357	T	0.40476	1.03	0.502	0.502	0.16932	.	.	.	.	.	T	0.15349	0.0370	N	0.05383	-0.06	0.09310	N	1	P	0.37864	0.61	B	0.28709	0.093	T	0.12372	-1.0550	8	0.26408	T	0.33	.	.	.	.	.	458	Q8NA70	FA47B_HUMAN	N	458	ENSP00000328307:H458N	ENSP00000328307:H458N	H	+	1	0	FAM47B	34872241	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.667000	0.01961	-0.495000	0.06659	-0.885000	0.02943	CAC		0.483	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		26	36	1	0	2.79863e-10	0.004656	3.52656e-10	26	36				
CYBB	1536	broad.mit.edu	37	X	37653054	37653054	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:37653054G>A	ENST00000378588.4	+	5	541	c.474G>A	c.(472-474)aaG>aaA	p.K158K	CYBB_ENST00000545017.1_Silent_p.K126K|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	158	Ferric oxidoreductase.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	TTGCTCGAAAGAGAATAAAGG	0.393																																							uc004ddr.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(472-474)AAG>AAA		cytochrome b-245 beta polypeptide							85.0	74.0	78.0					X																	37653054		2201	4300	6501	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37653054G>A	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.474G>A	X.37:g.37653054G>A						CYBB_uc011mke.1_Intron|CYBB_uc011mkf.1_Silent_p.K126K|CYBB_uc011mkg.1_Intron	p.K158K	NM_000397	NP_000388	P04839	CY24B_HUMAN			5	535	+			158			Extracellular (Potential).|Ferric oxidoreductase.		A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.474G>A	CCDS14242.1																																																																																				0.393	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			15	15	0	0	0	0.00499	0	15	15				
CCNB3	85417	broad.mit.edu	37	X	50054016	50054016	+	Silent	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:50054016A>G	ENST00000376042.1	+	6	3145	c.2847A>G	c.(2845-2847)ttA>ttG	p.L949L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L			Q8WWL7	CCNB3_HUMAN	cyclin B3	949					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.L949L(5)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGCCATTAGCCTTACAAG	0.483																																							uc004dox.3		NA																	5	Substitution - coding silent(5)		prostate(3)|lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(2845-2847)TTA>TTG		cyclin B3 isoform 3							87.0	82.0	84.0					X																	50054016		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054016A>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2847A>G	X.37:g.50054016A>G						CCNB3_uc004doy.2_Silent_p.L949L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.L949L	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	3145	+	Ovarian(276;0.236)		949					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.2847A>G	CCDS14331.1																																																																																				0.483	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			3	49	0	0	0	0.004672	0	3	49				
HEPH	9843	broad.mit.edu	37	X	65423229	65423229	+	Missense_Mutation	SNP	G	G	T	rs199531324		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:65423229G>T	ENST00000343002.2	+	12	2765	c.2101G>T	c.(2101-2103)Gca>Tca	p.A701S	HEPH_ENST00000441993.2_Missense_Mutation_p.A704S|HEPH_ENST00000336279.5_Missense_Mutation_p.A434S|HEPH_ENST00000374727.3_Missense_Mutation_p.A704S|HEPH_ENST00000419594.1_Missense_Mutation_p.A512S|HEPH_ENST00000519389.1_Missense_Mutation_p.A755S			Q9BQS7	HEPH_HUMAN	hephaestin	701	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTATTGCCAGGCAGGCAGCCA	0.532													G|||	1	0.000264901	0.0008	0.0	3775	,	,		12001	0.0		0.0	False		,,,				2504	0.0						uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(2110-2112)GCA>TCA		hephaestin isoform a							57.0	48.0	51.0					X																	65423229		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65423229G>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2101G>T	X.37:g.65423229G>T	ENSP00000343939:p.Ala701Ser					HEPH_uc004dwn.2_Missense_Mutation_p.A704S|HEPH_uc004dwo.2_Missense_Mutation_p.A434S|HEPH_uc010nkr.2_Missense_Mutation_p.A512S|HEPH_uc011mpa.1_Missense_Mutation_p.A704S|HEPH_uc010nks.2_5'UTR	p.A704S	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			13	2170	+			701			Plastocyanin-like 4.|Extracellular (Potential).		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2110G>T		1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.54	2.266337	0.40095	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-5.27;-6.62;-6.62	4.5	2.69	0.31865	Cupredoxin (2);	0.638783	0.16140	N	0.227789	D	0.97451	0.9166	N	0.14661	0.345	0.25696	N	0.98564	B;B;B	0.28552	0.021;0.066;0.215	B;B;B	0.29353	0.01;0.053;0.101	D	0.96795	0.9585	10	0.49607	T	0.09	.	2.8551	0.05570	0.304:0.0:0.4912:0.2048	.	755;512;701	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	S	755;704;434;704;512;701;658	ENSP00000430620:A755S;ENSP00000363859:A704S;ENSP00000337418:A434S;ENSP00000411687:A704S;ENSP00000413211:A512S;ENSP00000343939:A701S;ENSP00000398078:A658S	ENSP00000337418:A434S	A	+	1	0	HEPH	65339954	0.944000	0.32072	0.807000	0.32361	0.994000	0.84299	2.851000	0.48302	0.344000	0.23847	0.600000	0.82982	GCA		0.532	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		14	9	1	0	8.60227e-14	0.004007	1.17927e-13	14	9				
OGT	8473	broad.mit.edu	37	X	70783045	70783045	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:70783045C>T	ENST00000373719.3	+	17	2431	c.2214C>T	c.(2212-2214)ggC>ggT	p.G738G	OGT_ENST00000373701.3_Silent_p.G728G	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	738					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTCTGAATGGCATCGACCTCA	0.353																																							uc004eaa.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(2212-2214)GGC>GGT		O-linked GlcNAc transferase isoform 1							128.0	112.0	117.0					X																	70783045		2203	4300	6503	SO:0001819	synonymous_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70783045C>T	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2214C>T	X.37:g.70783045C>T						BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.G728G|OGT_uc004eac.2_Silent_p.G599G|OGT_uc004ead.2_Silent_p.G357G	p.G738G	NM_181672	NP_858058	O15294	OGT1_HUMAN			17	2431	+	Renal(35;0.156)		738					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	ENST00000373719.3	37	c.2214C>T	CCDS14414.1																																																																																				0.353	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		29	39	0	0	0	0.00632	0	29	39				
TBC1D8B	54885	broad.mit.edu	37	X	106083313	106083313	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:106083313A>G	ENST00000357242.5	+	9	1563	c.1389A>G	c.(1387-1389)atA>atG	p.I463M	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.I457M|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.I463M	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	463							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGGAAAATACTGTTTGCAG	0.333																																							uc004emo.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1387-1389)ATA>ATG		TBC1 domain family, member 8B (with GRAM domain)							128.0	118.0	122.0					X																	106083313		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106083313A>G	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1389A>G	X.37:g.106083313A>G	ENSP00000349781:p.Ile463Met					MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.I463M	p.I463M	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			9	1554	+			463					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1389A>G	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778479	0.49786	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	T;T;T	0.04502	3.61;3.61;3.61	5.88	-1.23	0.09465	Rab-GAP/TBC domain (1);	0.055575	0.64402	D	0.000001	T	0.08935	0.0221	M	0.74881	2.28	0.44603	D	0.997576	P;P	0.48089	0.905;0.585	P;B	0.48552	0.581;0.322	T	0.08432	-1.0722	10	0.48119	T	0.1	-6.339	7.78	0.29060	0.5569:0.2936:0.0:0.1495	.	463;463	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	M	463;463;457	ENSP00000349781:I463M;ENSP00000310675:I463M;ENSP00000276175:I457M	ENSP00000276175:I457M	I	+	3	3	TBC1D8B	105969969	0.757000	0.28394	0.856000	0.33681	0.741000	0.42261	-0.028000	0.12350	-0.280000	0.09154	-1.121000	0.02013	ATA		0.333	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		45	20	0	0	0	0.003214	0	45	20				
IRS4	8471	broad.mit.edu	37	X	107978467	107978467	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:107978467C>A	ENST00000372129.2	-	1	1184	c.1108G>T	c.(1108-1110)Ggc>Tgc	p.G370C	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	370					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCAGCCTCCCGGCTCG	0.642																																							uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1108-1110)GGC>TGC		insulin receptor substrate 4							79.0	83.0	82.0					X																	107978467		2203	4299	6502	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978467C>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1108G>T	X.37:g.107978467C>A	ENSP00000361202:p.Gly370Cys						p.G370C	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1141	-			370						Missense_Mutation	SNP	ENST00000372129.2	37	c.1108G>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297432	0.40694	.	.	ENSG00000133124	ENST00000372129	T	0.64085	-0.08	4.73	2.79	0.32731	.	0.060584	0.64402	D	0.000004	T	0.67154	0.2863	L	0.32530	0.975	0.37744	D	0.925718	D	0.89917	1.0	D	0.87578	0.998	T	0.71745	-0.4500	10	0.87932	D	0	-11.2569	10.6003	0.45362	0.0:0.8096:0.0:0.1904	.	370	O14654	IRS4_HUMAN	C	370	ENSP00000361202:G370C	ENSP00000361202:G370C	G	-	1	0	IRS4	107865123	1.000000	0.71417	0.798000	0.32154	0.860000	0.49131	4.334000	0.59291	1.001000	0.39076	0.600000	0.82982	GGC		0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		98	36	1	0	2.24395e-52	0.00361	3.8347e-52	98	36				
HTR2C	3358	broad.mit.edu	37	X	114082672	114082672	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:114082672G>T	ENST00000276198.1	+	5	1184	c.456G>T	c.(454-456)cgG>cgT	p.R152R	HTR2C_ENST00000371951.1_Silent_p.R152R|HTR2C_ENST00000371950.3_Splice_Site	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	152					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGCTGGATCGGTATGTAGCAA	0.423																																							uc004epu.1		NA																	0				ovary(3)	3						c.(454-456)CGG>CGT		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						174.0	146.0	155.0					X																	114082672		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114082672G>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.456G>T	X.37:g.114082672G>T						HTR2C_uc010nqc.1_Silent_p.R152R|HTR2C_uc004epv.1_Splice_Site_p.R152_splice	p.R152R	NM_000868	NP_000859	P28335	5HT2C_HUMAN			5	1184	+			152			Cytoplasmic (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.456G>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338819	0.60963	.	.	ENSG00000147246	ENST00000371950	.	.	.	4.41	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3953	0.16266	0.0:0.3006:0.5126:0.1868	.	.	.	.	.	-1	.	.	.	+	.	.	HTR2C	113988928	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.958000	0.40402	1.771000	0.52183	0.544000	0.68410	.		0.423	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		55	19	1	0	5.57489e-27	0.00361	8.88777e-27	55	19				
XPNPEP2	7512	broad.mit.edu	37	X	128887222	128887222	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:128887222C>T	ENST00000371106.3	+	11	1297	c.1105C>T	c.(1105-1107)Cac>Tac	p.H369Y		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	369						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CAAGGCCAGCCACGTAAGTCC	0.537																																							uc004eut.1		NA																	0					0						c.(1105-1107)CAC>TAC		X-prolyl aminopeptidase 2, membrane-bound							141.0	109.0	120.0					X																	128887222		2203	4299	6502	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128887222C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1105C>T	X.37:g.128887222C>T	ENSP00000360147:p.His369Tyr						p.H369Y	NM_003399	NP_003390	O43895	XPP2_HUMAN			11	1349	+			369					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.1105C>T	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.646674	0.87958	.	.	ENSG00000122121	ENST00000371106	T	0.76839	-1.05	5.34	5.34	0.76211	Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	D	0.86130	0.5859	L	0.60845	1.875	0.53688	D	0.999973	D	0.89917	1.0	D	0.77004	0.989	D	0.87615	0.2506	10	0.87932	D	0	-14.8691	16.7574	0.85503	0.0:1.0:0.0:0.0	.	369	O43895	XPP2_HUMAN	Y	369	ENSP00000360147:H369Y	ENSP00000360147:H369Y	H	+	1	0	XPNPEP2	128714903	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.222000	0.72249	2.215000	0.71742	0.597000	0.82753	CAC		0.537	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		56	22	0	0	0	0.00361	0	56	22				
USP26	83844	broad.mit.edu	37	X	132160222	132160223	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:132160222_132160223GG>TT	ENST00000511190.1	-	6	2495_2496	c.2026_2027CC>AA	c.(2026-2028)CCt>AAt	p.P676N	USP26_ENST00000370832.1_Missense_Mutation_p.P676N|USP26_ENST00000406273.1_Missense_Mutation_p.P676N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	676	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCTGCTGGCAGGTTTACCTCCA	0.431																																					NSCLC(104;342 1621 36940 47097 52632)	NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1		NA																	0				lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(2026-2028)CCT>AAT		ubiquitin-specific protease 26																																				SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160222_132160223GG>TT	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2026_2027delinsTT	X.37:g.132160222_132160223delinsTT	ENSP00000423390:p.Pro676Asn					USP26_uc011mvf.1_Missense_Mutation_p.P676N	p.P676N	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	2496_2497	-	Acute lymphoblastic leukemia(192;0.000127)		676					B9WRT6|Q5H9H4	Missense_Mutation	DNP	ENST00000511190.1	37	c.2026_2027CC>AA	CCDS14635.1																																																																																				0.431	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		47	18	0	0	0	0.004672	0	47	18				
F9	2158	broad.mit.edu	37	X	138633376	138633376	+	Silent	SNP	C	C	A	rs137852240		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:138633376C>A	ENST00000218099.2	+	6	683	c.676C>A	c.(676-678)Cgg>Agg	p.R226R	F9_ENST00000394090.2_Silent_p.R188R	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	226		Cleavage; by factor XIa.	R -> G (in HEMB; severe; Madrid). {ECO:0000269|PubMed:12588353, ECO:0000269|PubMed:8076946}.|R -> Q (in HEMB; severe; Hilo and Novara). {ECO:0000269|PubMed:12588353, ECO:0000269|PubMed:2162822, ECO:0000269|PubMed:2713493}.|R -> W (in HEMB; severe; Nagoya-1, Dernbach, Deventer, Idaho, etc.). {ECO:0000269|PubMed:12588353, ECO:0000269|PubMed:2162822, ECO:0000269|PubMed:2592373}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TGACTTCACTCGGGTTGTTGG	0.433																																							uc004fas.1		NA																	0				lung(2)|ovary(1)	3	GRCh37	CM940544|CM940545	F9	M	rs137852240	c.(676-678)CGG>AGG		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						135.0	112.0	120.0					X																	138633376		2203	4300	6503	SO:0001819	synonymous_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138633376C>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.676C>A	X.37:g.138633376C>A						F9_uc004fat.1_Silent_p.R188R	p.R226R	NM_000133	NP_000124	P00740	FA9_HUMAN			6	705	+	Acute lymphoblastic leukemia(192;0.000127)		226		R -> G (in HEMB; severe; Madrid).|R -> Q (in HEMB; severe; Hilo and Novara).|R -> W (in HEMB; severe; Nagoya-1, Dernbach, Deventer, Idaho, etc.).		Cleavage; by factor XIa.	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	ENST00000218099.2	37	c.676C>A	CCDS14666.1																																																																																				0.433	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			40	20	1	0	6.2361e-21	0.007835	9.51626e-21	40	20				
MAGEC3	139081	broad.mit.edu	37	X	140984971	140984971	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:140984971C>A	ENST00000298296.1	+	7	1427	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	MAGEC3_ENST00000544766.1_Missense_Mutation_p.P178H|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P178H|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P98H|MAGEC3_ENST00000536088.1_Missense_Mutation_p.P178H	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	476	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAAAGAGCCTGTCACAAAG	0.443																																							uc011mwp.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1426-1428)CCT>CAT		melanoma antigen family C, 3 isoform 1							107.0	100.0	102.0					X																	140984971		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140984971C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1427C>A	X.37:g.140984971C>A	ENSP00000298296:p.Pro476His					MAGEC3_uc004fbs.2_Missense_Mutation_p.P178H|MAGEC3_uc010nsj.2_Missense_Mutation_p.P178H	p.P476H	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			7	1427	+	Acute lymphoblastic leukemia(192;6.56e-05)		476			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1427C>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	c	10.14	1.269231	0.23221	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22	1.18	0.226	0.15353	.	.	.	.	.	T	0.26048	0.0635	M	0.87971	2.92	0.09310	N	1	P;D	0.89917	0.884;1.0	P;D	0.87578	0.72;0.998	T	0.08106	-1.0738	9	0.59425	D	0.04	.	3.3461	0.07136	0.0:0.6869:0.0:0.3131	.	476;178	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	H	476;178;98;178;178	ENSP00000298296:P476H;ENSP00000441107:P178H;ENSP00000438254:P98H;ENSP00000440444:P178H;ENSP00000386566:P178H	ENSP00000298296:P476H	P	+	2	0	MAGEC3	140812637	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-0.309000	0.08145	-0.001000	0.14495	0.179000	0.17066	CCT		0.443	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		53	33	1	0	2.47907e-22	0.00361	3.85375e-22	53	33				
SPANXN1	494118	broad.mit.edu	37	X	144329156	144329156	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:144329156G>T	ENST00000370493.3	+	1	809	c.50G>T	c.(49-51)tGt>tTt	p.C17F		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	17										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGCCCCTGTGAATCCAAC	0.453																																							uc004fcb.2		NA																	0					0						c.(49-51)TGT>TTT		SPANX-N1 protein							248.0	212.0	224.0					X																	144329156		2203	4299	6502	SO:0001583	missense	494118							g.chrX:144329156G>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.50G>T	X.37:g.144329156G>T	ENSP00000359524:p.Cys17Phe						p.C17F	NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN			1	50	+	Acute lymphoblastic leukemia(192;6.56e-05)		17						Missense_Mutation	SNP	ENST00000370493.3	37	c.50G>T	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	G	6.199	0.404919	0.11754	.	.	ENSG00000203923	ENST00000370493	T	0.20332	2.08	.	.	.	.	.	.	.	.	T	0.37517	0.1006	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.68483	0.958	T	0.13926	-1.0491	6	0.87932	D	0	.	.	.	.	.	17	Q5VSR9	SPXN1_HUMAN	F	17	ENSP00000359524:C17F	ENSP00000359524:C17F	C	+	2	0	SPANXN1	144136848	0.001000	0.12720	0.219000	0.23793	0.224000	0.24922	-0.782000	0.04643	0.054000	0.16065	0.054000	0.15206	TGT		0.453	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		76	47	1	0	4.49761e-31	0.00361	7.33435e-31	76	47				
SLITRK2	84631	broad.mit.edu	37	X	144905599	144905599	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:144905599C>T	ENST00000370490.1	+	1	5911	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	SLITRK2_ENST00000413937.2_Silent_p.I552I|SLITRK2_ENST00000447897.2_Silent_p.I552I|SLITRK2_ENST00000428560.2_Silent_p.I552I|SLITRK2_ENST00000434188.2_Silent_p.I552I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	552	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCTGTCATCATTAATGAGG	0.502																																							uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1654-1656)ATC>ATT		SLIT and NTRK-like family, member 2 precursor							66.0	60.0	62.0					X																	144905599		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144905599C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1656C>T	X.37:g.144905599C>T						SLITRK2_uc010nsp.2_Silent_p.I552I|SLITRK2_uc010nso.2_Silent_p.I552I|SLITRK2_uc011mwq.1_Silent_p.I552I|SLITRK2_uc011mwr.1_Silent_p.I552I|SLITRK2_uc011mws.1_Silent_p.I552I|SLITRK2_uc004fcg.2_Silent_p.I552I|SLITRK2_uc011mwt.1_Silent_p.I552I	p.I552I	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2646	+	Acute lymphoblastic leukemia(192;6.56e-05)		552			Extracellular (Potential).|LRRCT 2.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.1656C>T	CCDS14680.1																																																																																				0.502	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		14	31	0	0	0	0.00245	0	14	31				
FMR1NB	158521	broad.mit.edu	37	X	147062998	147062998	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:147062998C>A	ENST00000370467.3	+	1	150	c.76C>A	c.(76-78)Ctg>Atg	p.L26M		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	26						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCACTTAGAGCTGGCAACTTA	0.597																																							uc004fcm.2		NA																	0				ovary(1)	1						c.(76-78)CTG>ATG		fragile X mental retardation 1 neighbor							115.0	86.0	96.0					X																	147062998		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147062998C>A		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.76C>A	X.37:g.147062998C>A	ENSP00000359498:p.Leu26Met						p.L26M	NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN			1	150	+	Acute lymphoblastic leukemia(192;6.56e-05)		26			Cytoplasmic (Potential).		D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.76C>A	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	C	7.777	0.708784	0.15239	.	.	ENSG00000176988	ENST00000370467	T	0.49432	0.78	1.81	-1.71	0.08133	.	.	.	.	.	T	0.30572	0.0769	N	0.14661	0.345	0.09310	N	1	P	0.39782	0.688	P	0.44990	0.466	T	0.19712	-1.0297	9	0.44086	T	0.13	0.1193	3.9259	0.09263	0.4623:0.3102:0.2276:0.0	.	26	Q8N0W7	FMR1N_HUMAN	M	26	ENSP00000359498:L26M	ENSP00000359498:L26M	L	+	1	2	FMR1NB	146870690	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.982000	0.03762	-0.632000	0.05553	0.552000	0.68991	CTG		0.597	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		36	18	1	0	2.47316e-13	0.003271	3.35355e-13	36	18				
GABRQ	55879	broad.mit.edu	37	X	151817739	151817739	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:151817739C>A	ENST00000370306.2	+	5	573	c.553C>A	c.(553-555)Ctg>Atg	p.L185M		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	185					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCTTGTTCCCTGGATCTGCA	0.507																																							uc004ffp.1		NA																	0				ovary(2)|pancreas(1)	3						c.(553-555)CTG>ATG		gamma-aminobutyric acid (GABA) receptor, theta							187.0	146.0	160.0					X																	151817739		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151817739C>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.553C>A	X.37:g.151817739C>A	ENSP00000359329:p.Leu185Met						p.L185M	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			5	573	+	Acute lymphoblastic leukemia(192;6.56e-05)		185			Extracellular (Potential).		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.553C>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	0.070	-1.204622	0.01568	.	.	ENSG00000147402	ENST00000370306	T	0.78924	-1.22	5.8	-5.44	0.02624	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.800555	0.10534	N	0.663479	T	0.32466	0.0830	N	0.00408	-1.53	0.28859	N	0.895624	B	0.29612	0.251	B	0.26202	0.067	T	0.49960	-0.8883	10	0.02654	T	1	.	6.6638	0.23029	0.5513:0.2163:0.0:0.2324	.	185	Q9UN88	GBRT_HUMAN	M	185	ENSP00000359329:L185M	ENSP00000359329:L185M	L	+	1	2	GABRQ	151568395	1.000000	0.71417	0.009000	0.14445	0.171000	0.22731	1.203000	0.32284	-0.937000	0.03719	0.600000	0.82982	CTG		0.507	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		46	23	1	0	2.52991e-16	0.00361	3.59665e-16	46	23				
PNMA5	114824	broad.mit.edu	37	X	152159632	152159632	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:152159632C>A	ENST00000439251.1	-	2	949	c.511G>T	c.(511-513)Ggc>Tgc	p.G171C	PNMA5_ENST00000361887.5_Missense_Mutation_p.G171C|PNMA5_ENST00000452693.1_Missense_Mutation_p.G171C|PNMA5_ENST00000535214.1_Missense_Mutation_p.G171C	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	171					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCTTCGCCTGGGCTAGGG	0.517																																							uc010ntw.2		NA																	0				ovary(1)|skin(1)	2						c.(511-513)GGC>TGC		paraneoplastic antigen like 5							95.0	85.0	88.0					X																	152159632		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159632C>A	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.511G>T	X.37:g.152159632C>A	ENSP00000388850:p.Gly171Cys					PNMA5_uc004fha.3_Missense_Mutation_p.G171C|PNMA5_uc010ntx.2_Missense_Mutation_p.G171C|PNMA5_uc004fgy.3_Missense_Mutation_p.G171C	p.G171C	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN			3	850	-	Acute lymphoblastic leukemia(192;6.56e-05)		171					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.511G>T	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120722	0.37436	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	3.05	2.17	0.27698	.	.	.	.	.	T	0.33904	0.0879	M	0.81497	2.545	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.07065	-1.0792	9	0.87932	D	0	.	5.353	0.16045	0.0:0.8371:0.0:0.1629	.	171	Q96PV4	PNMA5_HUMAN	C	171	ENSP00000354834:G171C;ENSP00000445775:G171C;ENSP00000388850:G171C;ENSP00000392342:G171C	ENSP00000354834:G171C	G	-	1	0	PNMA5	151910288	0.010000	0.17322	0.001000	0.08648	0.064000	0.16182	1.999000	0.40806	0.701000	0.31803	0.468000	0.43344	GGC		0.517	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		72	23	1	0	3.07281e-33	0.00361	5.07727e-33	72	23				
PLXNB3	5365	broad.mit.edu	37	X	153036815	153036815	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:153036815C>A	ENST00000361971.5	+	13	2418	c.2304C>A	c.(2302-2304)acC>acA	p.T768T	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.T378T|PLXNB3_ENST00000538776.1_Silent_p.T421T|PLXNB3_ENST00000538966.1_Silent_p.T791T	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	768					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTACGTCACCCAGGGTGAAG	0.647																																							uc004fii.2		NA																	0				lung(1)	1						c.(2302-2304)ACC>ACA		plexin B3 isoform 1							103.0	84.0	90.0					X																	153036815		2200	4299	6499	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153036815C>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2304C>A	X.37:g.153036815C>A						PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Silent_p.T450T|PLXNB3_uc010nuk.2_Silent_p.T791T|PLXNB3_uc011mzd.1_Silent_p.T407T	p.T768T	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			13	2478	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		768			Extracellular (Potential).		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.2304C>A	CCDS14729.1																																																																																				0.647	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			37	15	1	0	5.43694e-19	0.005524	8.0986e-19	37	15				
SPRY3	10251	broad.mit.edu	37	X	155004046	155004046	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:155004046C>T	ENST00000302805.2	+	2	944	c.513C>T	c.(511-513)aaC>aaT	p.N171N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	171	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTGTGCAACCAGCGCTGCC	0.587																																							uc004fnq.1		NA																	0					0						c.(511-513)AAC>AAT		sprouty homolog 3							160.0	157.0	158.0					X																	155004046		2203	4296	6499	SO:0001819	synonymous_variant	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004046C>T	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.513C>T	X.37:g.155004046C>T						SPRY3_uc010nvl.1_Intron	p.N171N	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	967	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		171			SPR.|Cys-rich.		A8K0H8	Silent	SNP	ENST00000302805.2	37	c.513C>T	CCDS14769.4																																																																																				0.587	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		12	148	0	0	0	0.001855	0	12	148				
HTR6	3362	broad.mit.edu	37	1	20005550	20005550	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:20005550delC	ENST00000289753.1	+	3	1479	c.1012delC	c.(1012-1014)ccafs	p.P338fs		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	338					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CCTGCCATGTCCACGCTGTCC	0.657																																					Esophageal Squamous(168;1879 2619 6848 21062)	Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2		NA																	0				ovary(1)	1						c.(1012-1014)CCAfs		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						41.0	48.0	46.0					1																	20005550		2203	4300	6503	SO:0001589	frameshift_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005550delC	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1012delC	1.37:g.20005550delC	ENSP00000289753:p.Pro338fs						p.P338fs	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	3	1479	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	338			Cytoplasmic (By similarity).		Q13640|Q5TGZ1	Frame_Shift_Del	DEL	ENST00000289753.1	37	c.1012delC	CCDS197.1																																																																																				0.657	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		18	52	NA	NA	NA	NA	NA	18	52	---	---	---	---
C8A	731	broad.mit.edu	37	1	57372406	57372406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:57372406delT	ENST00000361249.3	+	8	1259	c.1163delT	c.(1162-1164)atafs	p.I388fs		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	388	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAAGACAAAATAAATGTTGGT	0.413																																							uc001cyo.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1162-1164)ATAfs		complement component 8, alpha polypeptide							140.0	139.0	139.0					1																	57372406		2203	4300	6503	SO:0001589	frameshift_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57372406delT	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1163delT	1.37:g.57372406delT	ENSP00000354458:p.Ile388fs						p.I388fs	NM_000562	NP_000553	P07357	CO8A_HUMAN			8	1295	+			388			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Frame_Shift_Del	DEL	ENST00000361249.3	37	c.1163delT	CCDS606.1																																																																																				0.413	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		39	145	NA	NA	NA	NA	NA	39	145	---	---	---	---
CEP128	145508	broad.mit.edu	37	14	81297530	81297531	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:81297530_81297531insA	ENST00000555265.1	-	13	1540_1541	c.1165_1166insT	c.(1165-1167)gagfs	p.E389fs	CEP128_ENST00000281129.3_Frame_Shift_Ins_p.E389fs|CEP128_ENST00000216517.6_Frame_Shift_Ins_p.E389fs			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	389						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTCTTTTCTCTCCATGCACCGT	0.406																																							uc001xux.2		NA																	0					0						c.(1165-1167)GAGfs		hypothetical protein LOC145508																																				SO:0001589	frameshift_variant	145508					centriole|spindle pole		g.chr14:81297530_81297531insA	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1165_1166insT	14.37:g.81297530_81297531insA	ENSP00000451162:p.Glu389fs					C14orf145_uc010asz.1_RNA|C14orf145_uc001xuz.2_Frame_Shift_Ins_p.E389fs|C14orf145_uc001xuy.1_Frame_Shift_Ins_p.E247fs	p.E389fs	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	12	1336_1337	-			389			Potential.		B9EK52|Q86X97|Q96ML4	Frame_Shift_Ins	INS	ENST00000555265.1	37	c.1165_1166insT	CCDS32130.1																																																																																				0.406	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		38	68	NA	NA	NA	NA	NA	38	68	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Frame_Shift_Del	DEL	G	G	-	rs137852790|rs137852791|rs587782705		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:7578475delG	ENST00000269305.4	-	5	644	c.455delC	c.(454-456)ccgfs	p.P153fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	153	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGTGCCGGGCGGGGGTGTGGA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		132	Substitution - Missense(84)|Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)	p.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)	large_intestine(22)|central_nervous_system(18)|upper_aerodigestive_tract(15)|oesophagus(10)|skin(9)|haematopoietic_and_lymphoid_tissue(8)|ovary(8)|prostate(8)|urinary_tract(7)|stomach(6)|bone(5)|breast(4)|lung(3)|liver(3)|vulva(2)|soft_tissue(2)|thyroid(1)|adrenal_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM941327	TP53	M		c.(454-456)CCGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							51.0	52.0	52.0					17																	7578475		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578475delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.455delC	17.37:g.7578475delG	ENSP00000269305:p.Pro153fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.2_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs|TP53_uc010vug.1_Frame_Shift_Del_p.P113fs	p.P152fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	152		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.455delC	CCDS11118.1																																																																																				0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	33	NA	NA	NA	NA	NA	29	33	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29667523	29667527	+	Splice_Site	DEL	GACTC	GACTC	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	GACTC	GACTC	-	-	GACTC	GACTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:29667523_29667527delGACTC	ENST00000358273.4	+	47	7305_7309	c.6922_6926delGACTC	c.(6922-6927)gactcg>g	p.DS2308fs	NF1_ENST00000417592.2_Splice_Site_p.DS21fs|NF1_ENST00000444181.2_Splice_Site_p.DS101fs|NF1_ENST00000356175.3_Splice_Site_p.DS2287fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2308					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.D2308fs*11(1)|p.P2310fs*11(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTTGCCAGGACTCGCCTCTGCAC	0.429			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.D2308fs*11(1)	soft_tissue(8)|autonomic_ganglia(2)|lung(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(6922-6927)GACTCGfs		neurofibromin isoform 1																																				SO:0001630	splice_region_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29667523_29667527delGACTC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6922-1GACTC>-	17.37:g.29667523_29667527delGACTC		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Frame_Shift_Del_p.D2287fs|NF1_uc010cso.2_Frame_Shift_Del_p.D496fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	p.D2308fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	47	7255_7259	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2308_2309					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.6922_6926delGACTC	CCDS42292.1																																																																																				0.429	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Frame_Shift_Del	27	32	NA	NA	NA	NA	NA	27	32	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47803337	47803337	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:47803337delC	ENST00000591416.1	-	4	688	c.257delG	c.(256-258)cgafs	p.R86fs	MBD1_ENST00000347968.3_Frame_Shift_Del_p.R86fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.R86fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.R86fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.R86fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.R86fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.R86fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.R86fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.R86fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.R86fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.R112fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	86					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AGGCTTCTTTCGCTTCTTGCT	0.587																																							uc010dow.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(256-258)CGAfs		methyl-CpG binding domain protein 1 isoform 1							84.0	79.0	81.0					18																	47803337		2203	4300	6503	SO:0001589	frameshift_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47803337delC	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.257delG	18.37:g.47803337delC	ENSP00000467017:p.Arg86fs					MBD1_uc002lef.2_5'UTR|MBD1_uc002leg.2_Frame_Shift_Del_p.R86fs|MBD1_uc010xdi.1_Frame_Shift_Del_p.R112fs|MBD1_uc002leh.3_Frame_Shift_Del_p.R86fs|MBD1_uc002len.2_Frame_Shift_Del_p.R86fs|MBD1_uc002lei.3_Frame_Shift_Del_p.R86fs|MBD1_uc002lej.3_Frame_Shift_Del_p.R86fs|MBD1_uc002lek.3_Frame_Shift_Del_p.R86fs|MBD1_uc002lel.3_Frame_Shift_Del_p.R86fs|MBD1_uc002lem.3_Frame_Shift_Del_p.R86fs|MBD1_uc010xdj.1_Frame_Shift_Del_p.R86fs|MBD1_uc010xdk.1_Frame_Shift_Del_p.R86fs|MBD1_uc010dox.1_Frame_Shift_Del_p.R86fs|MBD1_uc002leo.2_Frame_Shift_Del_p.R86fs	p.R86fs	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			4	694	-			86			Nuclear localization signal (Potential).		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Frame_Shift_Del	DEL	ENST00000591416.1	37	c.257delG	CCDS11943.1																																																																																				0.587	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		52	85	NA	NA	NA	NA	NA	52	85	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160289857	160289857	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:160289857delT	ENST00000392783.2	-	9	1806	c.1311delA	c.(1309-1311)gcafs	p.A437fs	BAZ2B_ENST00000343439.5_Frame_Shift_Del_p.A435fs|BAZ2B_ENST00000355831.2_Frame_Shift_Del_p.A437fs|BAZ2B_ENST00000392782.1_Frame_Shift_Del_p.A435fs	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGATGGGAATGCCTGTTTAT	0.348																																							uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(1309-1311)GCAfs		bromodomain adjacent to zinc finger domain, 2B							109.0	102.0	104.0					2																	160289857		1866	4083	5949	SO:0001589	frameshift_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289857delT	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1311delA	2.37:g.160289857delT	ENSP00000376534:p.Ala437fs					BAZ2B_uc002uap.2_Frame_Shift_Del_p.A435fs|BAZ2B_uc002uas.1_Frame_Shift_Del_p.A374fs|BAZ2B_uc002uaq.1_Frame_Shift_Del_p.A365fs|BAZ2B_uc002uar.1_Frame_Shift_Del_p.A10fs	p.A437fs	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			9	1663	-			437					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Frame_Shift_Del	DEL	ENST00000392783.2	37	c.1311delA	CCDS2209.2																																																																																				0.348	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			33	59	NA	NA	NA	NA	NA	33	59	---	---	---	---
TMEM74B	55321	broad.mit.edu	37	20	1161830	1161830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:1161830delG	ENST00000381894.3	-	2	1104	c.433delC	c.(433-435)cgtfs	p.R145fs	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	145						integral component of membrane (GO:0016021)											CGAGCCTCACGGGGGATGGCG	0.602																																							uc010gaa.1		NA																	0				ovary(1)	1						c.(433-435)CGTfs		hypothetical protein LOC55321							85.0	75.0	78.0					20																	1161830		2203	4300	6503	SO:0001589	frameshift_variant	55321					integral to membrane	protein binding	g.chr20:1161830delG	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.433delC	20.37:g.1161830delG	ENSP00000371318:p.Arg145fs					C20orf46_uc002weq.1_Frame_Shift_Del_p.R145fs	p.R145fs	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN			3	652	-			145					D3DVW5	Frame_Shift_Del	DEL	ENST00000381894.3	37	c.433delC	CCDS13011.1																																																																																				0.602	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		37	27	NA	NA	NA	NA	NA	37	27	---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119109712	119109713	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:119109712_119109713insC	ENST00000264245.4	+	7	1295_1296	c.763_764insC	c.(763-765)gccfs	p.A255fs		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	255					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.A255G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAAGCTCAAGCCCGCAGCCTG	0.579																																					Pancreas(7;176 297 5394 51128 51241)	Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(763-765)GCCfs		Cdc42 GTPase-activating protein																																				SO:0001589	frameshift_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119109712_119109713insC		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.766dupC	3.37:g.119109715_119109715dupC	ENSP00000264245:p.Ala255fs						p.A255fs	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			7	1295_1296	+			255					Q9ULL6	Frame_Shift_Ins	INS	ENST00000264245.4	37	c.763_764insC	CCDS43135.1																																																																																				0.579	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			15	54	NA	NA	NA	NA	NA	15	54	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151412167	151412167	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:151412167delC	ENST00000357115.3	-	42	6627	c.6384delG	c.(6382-6384)gggfs	p.G2128fs	LRBA_ENST00000507224.1_Frame_Shift_Del_p.G2117fs|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Frame_Shift_Del_p.G2117fs|LRBA_ENST00000535741.1_Frame_Shift_Del_p.G2117fs	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2128						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTCCATGCAGCCCTTCTGTAT	0.358																																							uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(6382-6384)GGGfs		LPS-responsive vesicle trafficking, beach and							102.0	99.0	100.0					4																	151412167		2203	4300	6503	SO:0001589	frameshift_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151412167delC	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6384delG	4.37:g.151412167delC	ENSP00000349629:p.Gly2128fs					LRBA_uc003ils.3_Frame_Shift_Del_p.G18fs|LRBA_uc003ilt.3_Frame_Shift_Del_p.G776fs|LRBA_uc003ilu.3_Frame_Shift_Del_p.G2117fs	p.G2128fs	NM_006726	NP_006717	P50851	LRBA_HUMAN			42	6858	-	all_hematologic(180;0.151)		2128					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Frame_Shift_Del	DEL	ENST00000357115.3	37	c.6384delG	CCDS3773.1																																																																																				0.358	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			17	94	NA	NA	NA	NA	NA	17	94	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82837339	82837340	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:82837339_82837340delAC	ENST00000265077.3	+	8	9082_9083	c.8517_8518delAC	c.(8515-8520)ggacacfs	p.H2840fs	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Frame_Shift_Del_p.H1853fs|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2840	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGCCTCTGGACACACAGAGAT	0.45																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(8515-8520)GGACACfs		versican isoform 1 precursor																																				SO:0001589	frameshift_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837339_82837340delAC	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8517_8518delAC	5.37:g.82837343_82837344delAC	ENSP00000265077:p.His2840fs					VCAN_uc003kij.3_Frame_Shift_Del_p.G1852fs|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Frame_Shift_Del_p.G1503fs	p.G2839fs	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8873_8874	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2839_2840			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Frame_Shift_Del	DEL	ENST00000265077.3	37	c.8517_8518delAC	CCDS4060.1																																																																																				0.450	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		8	107	NA	NA	NA	NA	NA	8	107	---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35237720	35237721	+	Frame_Shift_Del	DEL	CA	CA	-	rs558642589		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:35237720_35237721delCA	ENST00000378495.3	+	5	513_514	c.291_292delCA	c.(289-294)tccacafs	p.T98fs	UNC13B_ENST00000396787.1_Frame_Shift_Del_p.T98fs|UNC13B_ENST00000378496.4_Frame_Shift_Del_p.T98fs	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	98					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAATGGTCCACATTAGAGGC	0.391																																							uc003zwq.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(289-294)TCCACAfs		UNC13 (C. elegans)-like																																				SO:0001589	frameshift_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35237720_35237721delCA	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.291_292delCA	9.37:g.35237722_35237723delCA	ENSP00000367756:p.Thr98fs					UNC13B_uc010mkl.1_Frame_Shift_Del_p.S97fs|UNC13B_uc003zwr.2_Frame_Shift_Del_p.S97fs	p.S97fs	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		5	583_584	+	all_epithelial(49;0.212)		97_98					Q5VYM8	Frame_Shift_Del	DEL	ENST00000378495.3	37	c.291_292delCA	CCDS6579.1																																																																																				0.391	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		20	61	NA	NA	NA	NA	NA	20	61	---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22291122	22291123	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:22291122_22291123insT	ENST00000323684.1	+	1	58_59	c.14_15insT	c.(13-18)cctgctfs	p.A6fs		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	6					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AACAAGATGCCTGCTGGTGAAC	0.376																																							uc004dai.1		NA																	0				lung(1)|pancreas(1)	2						c.(13-15)CCTfs		zinc finger protein 645																																				SO:0001589	frameshift_variant	158506					intracellular	zinc ion binding	g.chrX:22291122_22291123insT	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.15dupT	X.37:g.22291123_22291123dupT	ENSP00000323348:p.Ala6fs						p.P5fs	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			1	63_64	+			5					A0AV29|A0AV31|E3SBK4|Q6DJY9	Frame_Shift_Ins	INS	ENST00000323684.1	37	c.14_15insT	CCDS14205.1																																																																																				0.376	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		28	11	NA	NA	NA	NA	NA	28	11	---	---	---	---
NLGN3	54413	broad.mit.edu	37	X	70389735	70389735	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:70389735delC	ENST00000358741.3	+	8	2638	c.2335delC	c.(2335-2337)cccfs	p.P780fs	NLGN3_ENST00000374051.3_Frame_Shift_Del_p.P760fs|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Frame_Shift_Del_p.P740fs	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	780					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGAGGCCGGTCCCCCCCATGA	0.677																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzb.2		NA																	0				ovary(1)	1						c.(2275-2277)CCCfs		neuroligin 3							72.0	52.0	59.0					X																	70389735		2199	4292	6491	SO:0001589	frameshift_variant	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70389735delC	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.2335delC	X.37:g.70389735delC	ENSP00000351591:p.Pro780fs					NLGN3_uc004dzc.2_Frame_Shift_Del_p.P642fs|NLGN3_uc011mps.1_Frame_Shift_Del_p.P739fs|NLGN3_uc004dze.2_Frame_Shift_Del_p.P577fs	p.P759fs	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN			7	2579	+	Renal(35;0.156)		779			Cytoplasmic (Potential).		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Frame_Shift_Del	DEL	ENST00000358741.3	37	c.2275delC	CCDS55441.1																																																																																				0.677	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129147055	129147055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:129147055delG	ENST00000218147.7	+	4	504	c.307delG	c.(307-309)gggfs	p.G103fs	BCORL1_ENST00000359304.2_Frame_Shift_Del_p.G103fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.G103fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.G103fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	103					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACTACGCTGGGAACGTGGC	0.607																																							uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(307-309)GGGfs		BCL6 co-repressor-like 1							41.0	37.0	39.0					X																	129147055		2202	4299	6501	SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147055delG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.307delG	X.37:g.129147055delG	ENSP00000218147:p.Gly103fs					BCORL1_uc010nrd.1_Frame_Shift_Del_p.G5fs	p.G103fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	421	+			103					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	c.307delG	CCDS14616.1																																																																																				0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		39	26	NA	NA	NA	NA	NA	39	26	---	---	---	---
