#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
CHD5	26038	broad.mit.edu	37	1	6185286	6185287	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:6185286_6185287CC>AA	ENST00000262450.3	-	29	4366_4367	c.4267_4268GG>TT	c.(4267-4269)GGc>TTc	p.G1423F	CHD5_ENST00000378021.1_Missense_Mutation_p.G280F	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G1423F(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGCATTGAAGCCCAGCACCTGG	0.639																																							uc001amb.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(4267-4269)GGC>TTC		chromodomain helicase DNA binding protein 5																																				SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6185286_6185287CC>AA	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4267_4268delinsAA	1.37:g.6185286_6185287delinsAA	ENSP00000262450:p.Gly1423Phe					CHD5_uc001alz.1_Missense_Mutation_p.G280F|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.G1423F	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	29	4367_4368	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1423					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	DNP	ENST00000262450.3	37	c.4267_4268GG>TT	CCDS57.1																																																																																				0.639	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		4	5	0	0	0	0.004672	0	4	5				
CHD5	26038	broad.mit.edu	37	1	6214773	6214773	+	Missense_Mutation	SNP	G	G	A	rs370035599		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:6214773G>A	ENST00000262450.3	-	5	791	c.692C>T	c.(691-693)cCg>cTg	p.P231L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.P231L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGCACCTGCGGGGGGCTGAC	0.682																																							uc001amb.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(691-693)CCG>CTG		chromodomain helicase DNA binding protein 5							25.0	22.0	23.0					1																	6214773		2181	4276	6457	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6214773G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.692C>T	1.37:g.6214773G>A	ENSP00000262450:p.Pro231Leu						p.P231L	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	5	792	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	231					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.692C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	6.802	0.517101	0.13005	.	.	ENSG00000116254	ENST00000262450	D	0.90620	-2.7	3.84	-0.32	0.12721	.	0.504996	0.19155	N	0.121358	D	0.84261	0.5433	L	0.46157	1.445	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74435	-0.3666	10	0.51188	T	0.08	-27.0557	7.3969	0.26942	0.1337:0.0:0.4266:0.4397	.	231	Q8TDI0	CHD5_HUMAN	L	231	ENSP00000262450:P231L	ENSP00000262450:P231L	P	-	2	0	CHD5	6137360	1.000000	0.71417	0.994000	0.49952	0.103000	0.19146	1.086000	0.30853	0.072000	0.16694	-0.657000	0.03884	CCG		0.682	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		6	20	0	0	0	0.00308	0	6	20				
HNRNPCL1	343069	broad.mit.edu	37	1	12908066	12908066	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:12908066A>G	ENST00000317869.6	-	2	302	c.77T>C	c.(76-78)cTt>cCt	p.L26P		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	26	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L26P(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTTGACAACAAGAGTGTTGAG	0.448																																							uc009vno.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(76-78)CTT>CCT		heterogeneous nuclear ribonucleoprotein C-like							190.0	175.0	180.0					1																	12908066		2203	4300	6503	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12908066A>G	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.77T>C	1.37:g.12908066A>G	ENSP00000365370:p.Leu26Pro					HNRNPCL1_uc010obf.1_Missense_Mutation_p.L26P	p.L26P	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN			1	172	-			26					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.77T>C	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	A	9.181	1.023497	0.19433	.	.	ENSG00000179172	ENST00000317869	T	0.14022	2.54	1.09	-0.106	0.13596	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.528179	0.16993	N	0.191202	T	0.04998	0.0134	N	0.05230	-0.09	0.58432	D	0.999992	B	0.06786	0.001	B	0.04013	0.001	T	0.37502	-0.9703	10	0.29301	T	0.29	.	4.232	0.10608	0.7657:0.0:0.2343:0.0	.	26	O60812	HNRCL_HUMAN	P	26	ENSP00000365370:L26P	ENSP00000365370:L26P	L	-	2	0	HNRNPCL1	12830653	0.004000	0.15560	0.252000	0.24328	0.533000	0.34776	1.191000	0.32138	-0.037000	0.13646	0.341000	0.21757	CTT		0.448	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		4	208	0	0	0	0.001984	0	4	208				
PRAMEF19	645414	broad.mit.edu	37	1	13695833	13695833	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:13695833T>A	ENST00000376101.2	-	3	924	c.925A>T	c.(925-927)Aac>Tac	p.N309Y	PRAMEF19_ENST00000540591.1_Missense_Mutation_p.N378Y			Q5SWL8	PRA19_HUMAN	PRAME family member 19	309					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.N309Y(1)		lung(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTGAGGTTGGAGCAGCGG	0.552																																							uc009vny.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1132-1134)AAC>TAC		PRAME family member 18							69.0	88.0	81.0					1																	13695833		2197	4295	6492	SO:0001583	missense	391003							g.chr1:13695833T>A			1p36.21	2013-01-17			ENSG00000204480	ENSG00000204480		"""-"""	24908	protein-coding gene	gene with protein product							Standard	NM_001099790		Approved	OTTHUMG00000007919	uc009vnu.1	Q5SWL8	OTTHUMG00000007919	ENST00000376101.2:c.925A>T	1.37:g.13695833T>A	ENSP00000365269:p.Asn309Tyr						p.N378Y	NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1179	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	378						Missense_Mutation	SNP	ENST00000376101.2	37	c.1132A>T		.	.	.	.	.	.	.	.	.	.	T	13.46	2.242632	0.39598	.	.	ENSG00000204480	ENST00000376101;ENST00000540591	T;T	0.10192	2.9;2.9	1.18	0.123	0.14709	.	0.332924	0.28983	N	0.013513	T	0.04861	0.0131	N	0.04508	-0.205	0.09310	N	1	P	0.40875	0.731	B	0.42692	0.395	T	0.29518	-1.0009	10	0.87932	D	0	.	4.3214	0.11018	0.0:0.0:0.6002:0.3998	.	378	F5H544	.	Y	309;378	ENSP00000365269:N309Y;ENSP00000446004:N378Y	ENSP00000365269:N309Y	N	-	1	0	PRAMEF19	13568420	0.185000	0.23213	0.178000	0.23040	0.328000	0.28507	0.058000	0.14301	0.038000	0.15604	0.136000	0.15936	AAC		0.552	PRAMEF19-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000021794.2	NM_001099790		4	97	0	0	0	0.001168	0	4	97				
PIGV	55650	broad.mit.edu	37	1	27117369	27117369	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:27117369G>T	ENST00000374145.1	+	2	745	c.63G>T	c.(61-63)ctG>ctT	p.L21L	PIGV_ENST00000078527.4_Silent_p.L21L|PIGV_ENST00000449950.2_5'UTR	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	21					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.L21L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GCCGTATCCTGACTCTGATGC	0.547																																							uc001bmz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(61-63)CTG>CTT		phosphatidylinositol glycan class V							158.0	115.0	129.0					1																	27117369		2203	4300	6503	SO:0001819	synonymous_variant	55650				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	g.chr1:27117369G>T	AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.63G>T	1.37:g.27117369G>T						PIGV_uc001bmy.2_5'UTR|PIGV_uc009vso.2_Silent_p.L21L|PIGV_uc010ofg.1_5'UTR|PIGV_uc001bna.2_Silent_p.L21L	p.L21L	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	2	394	+		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	21			Helical; (Potential).		D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Silent	SNP	ENST00000374145.1	37	c.63G>T	CCDS287.1																																																																																				0.547	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837		38	23	1	0	6.48837e-15	0.010771	9.30617e-15	38	23				
RCC1	1104	broad.mit.edu	37	1	28864429	28864429	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:28864429G>T	ENST00000373833.6	+	13	1461	c.1176G>T	c.(1174-1176)atG>atT	p.M392I	RCC1_ENST00000398958.2_Missense_Mutation_p.M392I|RCC1_ENST00000373832.1_Missense_Mutation_p.M392I|RCC1_ENST00000373831.3_Missense_Mutation_p.M423I			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	392					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.M423I(1)|p.M392I(1)		breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGATGATGGGCAAACAGC	0.557																																							uc001bqg.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1174-1176)ATG>ATT		regulator of chromosome condensation 1 isoform							82.0	81.0	82.0					1																	28864429		2203	4300	6503	SO:0001583	missense	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28864429G>T	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.1176G>T	1.37:g.28864429G>T	ENSP00000362939:p.Met392Ile					SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.M392I|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.M392I|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.M392I|RCC1_uc001bqe.1_Missense_Mutation_p.M409I|RCC1_uc001bqf.1_Missense_Mutation_p.M423I	p.M392I	NM_001269	NP_001260	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	10	1261	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	392			RCC1 7.		Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.1176G>T	CCDS323.1	.	.	.	.	.	.	.	.	.	.	g	12.82	2.051660	0.36181	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.17	-10.3	0.00346	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.094804	0.64402	D	0.000001	T	0.58637	0.2136	N	0.12569	0.235	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42699	-0.9436	10	0.44086	T	0.13	-1.7006	3.0037	0.06021	0.3033:0.0893:0.3953:0.2121	.	423;409;392	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	I	392;392;392;423	ENSP00000381931:M392I;ENSP00000362939:M392I;ENSP00000362938:M392I;ENSP00000362937:M423I	ENSP00000362937:M423I	M	+	3	0	RCC1	28737016	0.000000	0.05858	0.862000	0.33874	0.820000	0.46376	-4.673000	0.00200	-1.696000	0.01421	-1.944000	0.00493	ATG		0.557	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		11	10	1	0	1.58986e-06	0.008291	1.86475e-06	11	10				
CSMD2	114784	broad.mit.edu	37	1	34112407	34112407	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:34112407G>A	ENST00000373380.1	-	8	1454	c.1234C>T	c.(1234-1236)Ctc>Ttc	p.L412F	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.L1539F			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1499	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1499F(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TAGATATGGAGGAAGTCATAG	0.542																																							uc001bxn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(4495-4497)CTC>TTC		CUB and Sushi multiple domains 2							43.0	40.0	41.0					1																	34112407		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34112407G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1234C>T	1.37:g.34112407G>A	ENSP00000362478:p.Leu412Phe					CSMD2_uc001bxm.1_Missense_Mutation_p.L1539F|CSMD2_uc001bxo.1_Missense_Mutation_p.L412F	p.L1499F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			29	4524	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1499			CUB 9.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.4495C>T		.	.	.	.	.	.	.	.	.	.	G	23.0	4.356916	0.82243	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.46063	0.88;0.88	5.95	5.95	0.96441	CUB (5);	0.000000	0.64402	D	0.000001	T	0.70806	0.3266	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.74907	-0.3504	10	0.46703	T	0.11	.	12.655	0.56782	0.0747:0.0:0.9253:0.0	.	412;1499;1539	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	F	1539;412	ENSP00000362479:L1539F;ENSP00000362478:L412F	ENSP00000241312:L1499F	L	-	1	0	CSMD2	33884994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.916000	0.56416	2.825000	0.97269	0.655000	0.94253	CTC		0.542	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		8	8	0	0	0	0.004482	0	8	8				
CSMD2	114784	broad.mit.edu	37	1	34112410	34112410	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:34112410A>C	ENST00000373380.1	-	8	1451	c.1231T>G	c.(1231-1233)Ttc>Gtc	p.F411V	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.F1538V			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1498	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F1498V(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATATGGAGGAAGTCATAGCCA	0.547																																							uc001bxn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(4492-4494)TTC>GTC		CUB and Sushi multiple domains 2							44.0	40.0	42.0					1																	34112410		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34112410A>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1231T>G	1.37:g.34112410A>C	ENSP00000362478:p.Phe411Val					CSMD2_uc001bxm.1_Missense_Mutation_p.F1538V|CSMD2_uc001bxo.1_Missense_Mutation_p.F411V	p.F1498V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			29	4521	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1498			CUB 9.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.4492T>G		.	.	.	.	.	.	.	.	.	.	A	30	5.056110	0.93793	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.28255	1.62;1.62	5.95	5.95	0.96441	CUB (5);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	L	0.60845	1.875	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	T	0.37798	-0.9690	10	0.12430	T	0.62	.	15.5971	0.76595	1.0:0.0:0.0:0.0	.	411;1498;1538	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	V	1538;411	ENSP00000362479:F1538V;ENSP00000362478:F411V	ENSP00000241312:F1498V	F	-	1	0	CSMD2	33884997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.279000	0.76181	0.533000	0.62120	TTC		0.547	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		8	8	0	0	0	0.004482	0	8	8				
CTPS1	1503	broad.mit.edu	37	1	41461722	41461722	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:41461722G>T	ENST00000372621.4	+	8	1362	c.854G>T	c.(853-855)tGg>tTg	p.W285L	CTPS1_ENST00000541520.1_Missense_Mutation_p.W54L|CTPS1_ENST00000543104.1_Missense_Mutation_p.W292L|CTPS1_ENST00000372616.1_Missense_Mutation_p.W285L	NM_001905.2	NP_001896.2			CTP synthase 1									p.W285L(2)		endometrium(3)|lung(10)	13						CTGATGAAATGGAAAGAGATG	0.488																																							uc001cgk.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(853-855)TGG>TTG		CTP synthase	L-Glutamine(DB00130)						76.0	79.0	78.0					1																	41461722		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41461722G>T	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.854G>T	1.37:g.41461722G>T	ENSP00000361704:p.Trp285Leu					CTPS_uc010ojo.1_Missense_Mutation_p.W54L|CTPS_uc010ojp.1_Missense_Mutation_p.W292L|CTPS_uc001cgl.3_Missense_Mutation_p.W285L|CTPS_uc010ojq.1_Missense_Mutation_p.W129L|CTPS_uc009vwe.2_Missense_Mutation_p.W5L	p.W285L	NM_001905	NP_001896	P17812	PYRG1_HUMAN			8	1362	+	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	285						Missense_Mutation	SNP	ENST00000372621.4	37	c.854G>T	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057200	0.93846	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000543104;ENST00000372616	T;T;T	0.56275	0.58;0.47;0.58	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	H	0.96748	3.875	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.992	D;D;D	0.77557	0.99;0.982;0.924	D	0.87983	0.2744	10	0.87932	D	0	.	18.6433	0.91402	0.0:0.0:1.0:0.0	.	292;54;285	B7Z9C4;B4DR64;P17812	.;.;PYRG1_HUMAN	L	285;54;292;285	ENSP00000361704:W285L;ENSP00000442646:W54L;ENSP00000361699:W285L	ENSP00000361699:W285L	W	+	2	0	CTPS	41234309	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.450000	0.97607	2.747000	0.94245	0.650000	0.86243	TGG		0.488	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		9	37	1	0	2.17888e-05	0.006214	2.48967e-05	9	37				
HIVEP3	59269	broad.mit.edu	37	1	42047134	42047134	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:42047134C>G	ENST00000372583.1	-	4	4220	c.3335G>C	c.(3334-3336)gGg>gCg	p.G1112A	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G1112A|HIVEP3_ENST00000372584.1_Missense_Mutation_p.G1112A|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G1112A	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1112					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1112A(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACAGTGGGCCCCAATGGGGG	0.632																																							uc001cgz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3334-3336)GGG>GCG		human immunodeficiency virus type I enhancer							54.0	64.0	61.0					1																	42047134		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047134C>G	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3335G>C	1.37:g.42047134C>G	ENSP00000361664:p.Gly1112Ala					HIVEP3_uc001cha.3_Missense_Mutation_p.G1112A|HIVEP3_uc001cgy.2_RNA	p.G1112A	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	4548	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1112					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.3335G>C	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	2.148	-0.395226	0.04899	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05717	3.41;3.4;3.4;3.41	4.61	2.5	0.30297	.	0.309956	0.23424	N	0.048333	T	0.03011	0.0089	N	0.24115	0.695	0.18873	N	0.999981	B;B	0.20887	0.049;0.029	B;B	0.24006	0.05;0.023	T	0.45041	-0.9288	10	0.02654	T	1	0.5724	2.522	0.04682	0.2494:0.3811:0.2738:0.0956	.	1112;1112	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	A	1112	ENSP00000361665:G1112A;ENSP00000361664:G1112A;ENSP00000247584:G1112A;ENSP00000410828:G1112A	ENSP00000247584:G1112A	G	-	2	0	HIVEP3	41819721	0.006000	0.16342	0.978000	0.43139	0.704000	0.40688	1.465000	0.35299	1.121000	0.41925	0.467000	0.42956	GGG		0.632	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		15	77	0	0	0	0.00245	0	15	77				
IL12RB2	3595	broad.mit.edu	37	1	67804386	67804386	+	Splice_Site	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:67804386G>A	ENST00000262345.1	+	8	1678	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	IL12RB2_ENST00000544434.1_Splice_Site_p.K346K|IL12RB2_ENST00000371000.1_Splice_Site_p.K346K|IL12RB2_ENST00000541374.1_Splice_Site_p.K346K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	346	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.K346K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTTTCTGGAAGGTGAGTTTTA	0.368																																							uc001ddu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1036-1038)AAG>AAA		interleukin 12 receptor, beta 2 precursor							92.0	104.0	100.0					1																	67804386		2203	4300	6503	SO:0001630	splice_region_variant	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67804386G>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1038+1G>A	1.37:g.67804386G>A						IL12RB2_uc010oqi.1_Silent_p.K346K|IL12RB2_uc010oqj.1_Silent_p.K346K|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Silent_p.K346K|IL12RB2_uc010oqm.1_Silent_p.K346K|IL12RB2_uc010oqn.1_RNA	p.K346K	NM_001559	NP_001550	Q99665	I12R2_HUMAN			8	1678	+			346			Fibronectin type-III 3.|Extracellular (Potential).		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Silent	SNP	ENST00000262345.1	37	c.1038G>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149714	0.37923	.	.	ENSG00000081985	ENST00000441640	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	T	0.65344	0.2682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63523	-0.6618	4	.	.	.	-24.5042	16.4166	0.83744	0.0:0.0:1.0:0.0	.	.	.	.	S	214	.	.	G	+	1	0	IL12RB2	67576974	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.609000	0.67661	2.662000	0.90505	0.563000	0.77884	GGT		0.368	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	Silent	18	53	0	0	0	0.007413	0	18	53				
ERICH3	127254	broad.mit.edu	37	1	75037360	75037360	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:75037360C>A	ENST00000326665.5	-	14	4252	c.4034G>T	c.(4033-4035)gGa>gTa	p.G1345V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1345	Glu-rich.							p.G1345V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCACCACCTCCGTGTAGAAC	0.537																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4033-4035)GGA>GTA		hypothetical protein LOC127254							195.0	189.0	191.0					1																	75037360		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037360C>A																												ENST00000326665.5:c.4034G>T	1.37:g.75037360C>A	ENSP00000322609:p.Gly1345Val						p.G1345V	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4253	-			1345			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4034G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	4.537	0.099742	0.08681	.	.	ENSG00000178965	ENST00000326665	T	0.13420	2.59	1.87	-3.74	0.04385	.	.	.	.	.	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	1	B	0.21821	0.061	B	0.27715	0.082	T	0.46359	-0.9197	9	0.30854	T	0.27	.	4.6442	0.12563	0.0:0.3728:0.1686:0.4586	.	1345	Q5RHP9	CA173_HUMAN	V	1345	ENSP00000322609:G1345V	ENSP00000322609:G1345V	G	-	2	0	C1orf173	74809948	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.716000	0.04991	-1.334000	0.02244	-1.196000	0.01674	GGA		0.537	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			19	72	1	0	2.39556e-15	0.00278	3.50264e-15	19	72				
ST6GALNAC3	256435	broad.mit.edu	37	1	77094408	77094408	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:77094408T>G	ENST00000328299.3	+	5	983	c.835T>G	c.(835-837)Ttt>Gtt	p.F279V		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	279					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.F279V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGGTCATAGGTTTATCACTGA	0.378																																							uc001dhh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(835-837)TTT>GTT		sialyltransferase 7C isoform 1							141.0	144.0	143.0					1																	77094408		2203	4299	6502	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77094408T>G		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.835T>G	1.37:g.77094408T>G	ENSP00000329214:p.Phe279Val					ST6GALNAC3_uc010orh.1_Missense_Mutation_p.F178V	p.F279V	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			5	998	+			279			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.835T>G	CCDS672.1	.	.	.	.	.	.	.	.	.	.	t	19.50	3.838593	0.71373	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	T	0.27402	1.67	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	M	0.87547	2.89	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62704	-0.6798	10	0.59425	D	0.04	-34.6889	15.586	0.76482	0.0:0.0:0.0:1.0	.	178;279	B4DM98;Q8NDV1	.;SIA7C_HUMAN	V	279;278;177	ENSP00000329214:F279V	ENSP00000329214:F279V	F	+	1	0	ST6GALNAC3	76866996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.637000	0.83313	2.136000	0.66102	0.524000	0.50904	TTT		0.378	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		30	65	0	0	0	0.00632	0	30	65				
PTGFR	5737	broad.mit.edu	37	1	79002220	79002220	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:79002220G>T	ENST00000370757.3	+	3	1165	c.928G>T	c.(928-930)Gct>Tct	p.A310S	PTGFR_ENST00000370758.1_Missense_Mutation_p.A310S|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	310					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.A310S(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TCTACGAAAGGCTGTCCTTAA	0.378																																							uc001din.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|skin(1)	6						c.(928-930)GCT>TCT		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						131.0	134.0	133.0					1																	79002220		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002220G>T	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.928G>T	1.37:g.79002220G>T	ENSP00000359793:p.Ala310Ser					PTGFR_uc001dim.2_3'UTR	p.A310S	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	3	1194	+			310			Cytoplasmic (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.928G>T	CCDS686.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641529	0.67244	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	T;T	0.36157	1.27;1.27	5.66	5.66	0.87406	.	0.056259	0.64402	D	0.000001	T	0.28300	0.0699	M	0.63843	1.955	0.80722	D	1	P	0.48294	0.908	B	0.44224	0.444	T	0.03043	-1.1079	10	0.37606	T	0.19	-11.0391	13.3631	0.60667	0.0719:0.0:0.9281:0.0	.	310	P43088	PF2R_HUMAN	S	310	ENSP00000359794:A310S;ENSP00000359793:A310S	ENSP00000359793:A310S	A	+	1	0	PTGFR	78774808	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.740000	0.68629	2.840000	0.97914	0.655000	0.94253	GCT		0.378	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		14	86	1	0	1.5739e-10	0.004007	2.09389e-10	14	86				
WDR63	126820	broad.mit.edu	37	1	85547062	85547062	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:85547062A>T	ENST00000294664.6	+	4	429	c.249A>T	c.(247-249)gcA>gcT	p.A83A	WDR63_ENST00000326813.8_Silent_p.A83A|WDR63_ENST00000370596.1_Silent_p.A83A	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	83								p.A83A(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ACAGAGCTGCAGTATCTGATT	0.363																																							uc001dkt.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(247-249)GCA>GCT		WD repeat domain 63							96.0	98.0	97.0					1																	85547062		2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85547062A>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.249A>T	1.37:g.85547062A>T						WDR63_uc009wcl.2_Silent_p.A83A	p.A83A	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	4	440	+			83					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.249A>T	CCDS702.1																																																																																				0.363	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		26	74	0	0	0	0.007291	0	26	74				
COL24A1	255631	broad.mit.edu	37	1	86210400	86210400	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:86210400G>T	ENST00000370571.2	-	57	4987	c.4621C>A	c.(4621-4623)Cca>Aca	p.P1541T	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1520T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1541	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.P1541T(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTCGTGCTGGGTTATCTCGT	0.368																																							uc001dlj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4621-4623)CCA>ACA		collagen, type XXIV, alpha 1 precursor							187.0	173.0	177.0					1																	86210400		1875	4107	5982	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210400G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4621C>A	1.37:g.86210400G>T	ENSP00000359603:p.Pro1541Thr					COL24A1_uc001dli.2_Missense_Mutation_p.P656T|COL24A1_uc010osd.1_Missense_Mutation_p.P841T|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.P1541T	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	4663	-			1541			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4621C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554749	0.65425	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.81415	-1.49;-1.49	5.29	5.29	0.74685	Fibrillar collagen, C-terminal (3);	0.000000	0.39544	N	0.001329	D	0.91778	0.7399	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93202	0.6592	10	0.87932	D	0	.	19.2988	0.94134	0.0:0.0:1.0:0.0	.	1541;1520	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	T	1541;1520	ENSP00000359603:P1541T;ENSP00000392531:P1520T	ENSP00000359603:P1541T	P	-	1	0	COL24A1	85982988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.635000	0.89317	0.563000	0.77884	CCA		0.368	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		25	30	1	0	4.7796e-09	0.004656	6.02855e-09	25	30				
STXBP3	6814	broad.mit.edu	37	1	109315285	109315285	+	Splice_Site	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:109315285A>T	ENST00000370008.3	+	7	488		c.e7-1		STXBP3_ENST00000485167.1_Splice_Site	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3						blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GTCTTAACTTAGGTGTATACT	0.289																																							uc001dvy.2		NA																	2	Unknown(2)	p.?(1)	ovary(1)|lung(1)	ovary(3)|central_nervous_system(1)	4						c.e7-2		syntaxin binding protein 3							85.0	75.0	78.0					1																	109315285		2203	4300	6503	SO:0001630	splice_region_variant	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109315285A>T	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.439-1A>T	1.37:g.109315285A>T						STXBP3_uc001dvz.2_Splice_Site	p.V147_splice	NM_007269	NP_009200	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	7	514	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)						A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Splice_Site	SNP	ENST00000370008.3	37	c.439_splice	CCDS790.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165249	0.78339	.	.	ENSG00000116266	ENST00000370008	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0072	0.80372	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STXBP3	109116808	1.000000	0.71417	0.985000	0.45067	0.847000	0.48162	8.856000	0.92245	2.260000	0.74910	0.528000	0.53228	.		0.289	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269	Intron	9	27	0	0	0	0.004482	0	9	27				
CASQ2	845	broad.mit.edu	37	1	116287460	116287460	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:116287460G>T	ENST00000261448.5	-	2	547	c.308C>A	c.(307-309)gCc>gAc	p.A103D	CASQ2_ENST00000456138.2_Missense_Mutation_p.A103D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	103					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.A103D(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CAGTTTCTTGGCAAGCTTGGC	0.403																																							uc001efx.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(307-309)GCC>GAC		cardiac calsequestrin 2 precursor							104.0	96.0	99.0					1																	116287460		2203	4300	6503	SO:0001583	missense	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116287460G>T	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.308C>A	1.37:g.116287460G>T	ENSP00000261448:p.Ala103Asp					CASQ2_uc010owu.1_Missense_Mutation_p.A103D	p.A103D	NM_001232	NP_001223	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	2	572	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	103					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	c.308C>A	CCDS884.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823509	0.50739	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.51817	0.69;0.69	5.47	5.47	0.80525	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	M	0.80028	2.48	0.33267	D	0.560471	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.996	T	0.70839	-0.4763	10	0.87932	D	0	-19.0823	16.2611	0.82547	0.0:0.0:1.0:0.0	.	103;103	B4DIB0;O14958	.;CASQ2_HUMAN	D	103	ENSP00000261448:A103D;ENSP00000403858:A103D	ENSP00000261448:A103D	A	-	2	0	CASQ2	116088983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.895000	0.87343	2.561000	0.86390	0.655000	0.94253	GCC		0.403	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		20	25	1	0	1.55795e-14	0.012319	2.22184e-14	20	25				
TTF2	8458	broad.mit.edu	37	1	117605061	117605061	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:117605061G>T	ENST00000369466.4	+	3	228	c.184G>T	c.(184-186)Ggt>Tgt	p.G62C	RP11-27K13.3_ENST00000445523.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	62					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.G62C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AGAGCTTCAGGGTTTGCTTCT	0.378																																							uc001egy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(184-186)GGT>TGT		transcription termination factor, RNA polymerase							82.0	79.0	80.0					1																	117605061		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117605061G>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.184G>T	1.37:g.117605061G>T	ENSP00000358478:p.Gly62Cys					TTF2_uc001egx.1_Missense_Mutation_p.G62C	p.G62C	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	3	204	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	62					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.184G>T	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972421	0.74246	.	.	ENSG00000116830	ENST00000369466	D	0.87103	-2.21	5.65	5.65	0.86999	.	0.000000	0.37437	N	0.002084	D	0.91016	0.7174	M	0.68317	2.08	0.34052	D	0.656195	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.91580	0.5278	10	0.56958	D	0.05	-15.8919	15.232	0.73398	0.0:0.0:1.0:0.0	.	62;62	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	C	62	ENSP00000358478:G62C	ENSP00000358478:G62C	G	+	1	0	TTF2	117406584	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.269000	0.43346	2.668000	0.90789	0.655000	0.94253	GGT		0.378	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			5	68	1	0	3.59834e-05	0.001168	4.09916e-05	5	68				
SPAG17	200162	broad.mit.edu	37	1	118550797	118550797	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:118550797C>T	ENST00000336338.5	-	31	4522	c.4457G>A	c.(4456-4458)aGg>aAg	p.R1486K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1486						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R1486K(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCACCTGCCTGGTGACAGT	0.498																																							uc001ehk.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4456-4458)AGG>AAG		sperm associated antigen 17							106.0	88.0	94.0					1																	118550797		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118550797C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4457G>A	1.37:g.118550797C>T	ENSP00000337804:p.Arg1486Lys						p.R1486K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	31	4525	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1486					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4457G>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408111	0.42715	.	.	ENSG00000155761	ENST00000336338	T	0.16324	2.35	5.53	3.64	0.41730	.	0.353403	0.35903	N	0.002919	T	0.04182	0.0116	L	0.43923	1.385	0.23689	N	0.997102	P	0.35155	0.487	B	0.30943	0.122	T	0.31779	-0.9931	10	0.17832	T	0.49	.	8.3246	0.32149	0.0:0.7579:0.0:0.2421	.	1486	Q6Q759	SPG17_HUMAN	K	1486	ENSP00000337804:R1486K	ENSP00000337804:R1486K	R	-	2	0	SPAG17	118352320	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	1.282000	0.33226	1.464000	0.47987	0.563000	0.77884	AGG		0.498	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		10	26	0	0	0	0.008291	0	10	26				
HSD3BP2	440606	broad.mit.edu	37	1	119985605	119985605	+	IGR	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:119985605T>A								HSD3B2 (19947 upstream) : HSD3B1 (64220 downstream)																							CCACACCGCCTGTATCATTGA	0.507																																							uc001ehu.2		NA																	0				ovary(2)	2						c.(412-414)TGT>AGT		RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes:   RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase;            EC=1.1.1.145;   AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase;   AltName: Full=Progesterone reductase; Includes:   RecName: Full=Steroid Delta-isomerase;            EC=5.3.3.1;   AltName: Full=Delta-5-3-ketosteroid isomerase;	NADH(DB00157)|Trilostane(DB01108)																																			SO:0001628	intergenic_variant	3284				androgen 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.chr1:119985605T>A																													1.37:g.119985605T>A							p.C138S			P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	554	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	Error:Variant_position_missing_in_P26439_after_alignment						Missense_Mutation	SNP		37	c.412T>A																																																																																				0	0.507									6	41	0	0	0	0.001168	0	6	41				
HSD3BP2	440606	broad.mit.edu	37	1	119985679	119985679	+	IGR	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:119985679G>T								HSD3B2 (20021 upstream) : HSD3B1 (64146 downstream)																							GGGTAGCCTGGGGAGGAGATA	0.493																																							uc001ehu.2		NA																	0				ovary(2)	2						c.(484-486)TGG>TGT		RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes:   RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase;            EC=1.1.1.145;   AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase;   AltName: Full=Progesterone reductase; Includes:   RecName: Full=Steroid Delta-isomerase;            EC=5.3.3.1;   AltName: Full=Delta-5-3-ketosteroid isomerase;	NADH(DB00157)|Trilostane(DB01108)																																			SO:0001628	intergenic_variant	3284				androgen 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.chr1:119985679G>T																													1.37:g.119985679G>T							p.W162C			P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	628	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	Error:Variant_position_missing_in_P26439_after_alignment						Missense_Mutation	SNP		37	c.486G>T																																																																																				0	0.493									9	13	1	0	3.09899e-07	0.004482	3.72175e-07	9	13				
HMGCS2	3158	broad.mit.edu	37	1	120301895	120301895	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:120301895T>A	ENST00000369406.3	-	4	745	c.696A>T	c.(694-696)ggA>ggT	p.G232G	HMGCS2_ENST00000544913.2_Silent_p.G190G|HMGCS2_ENST00000476640.1_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	232					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.G232G(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CCATATGGGTTCCCCTCAGCC	0.473																																							uc001eid.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(694-696)GGA>GGT		hydroxymethylglutaryl-CoA synthase 2 isoform 1							80.0	76.0	77.0					1																	120301895		2203	4300	6503	SO:0001819	synonymous_variant	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120301895T>A	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.696A>T	1.37:g.120301895T>A						HMGCS2_uc010oxj.1_Silent_p.G190G|HMGCS2_uc001eie.2_Silent_p.G140G	p.G232G	NM_005518	NP_005509	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	4	747	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	232					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Silent	SNP	ENST00000369406.3	37	c.696A>T	CCDS905.1																																																																																				0.473	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		33	21	0	0	0	0.004878	0	33	21				
CRNN	49860	broad.mit.edu	37	1	152384671	152384671	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:152384671C>G	ENST00000271835.3	-	2	101	c.39G>C	c.(37-39)gaG>gaC	p.E13D	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	13					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.E13D(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGAAGGCCTCGATGATCC	0.502																																							uc001ezx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(37-39)GAG>GAC		cornulin							135.0	122.0	126.0					1																	152384671		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152384671C>G	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.39G>C	1.37:g.152384671C>G	ENSP00000271835:p.Glu13Asp						p.E13D	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	113	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		13					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.39G>C	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244230	0.22796	.	.	ENSG00000143536	ENST00000271835;ENST00000451038	T	0.08282	3.11	4.78	-1.5	0.08691	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.404433	0.21089	N	0.080342	T	0.01765	0.0056	L	0.28649	0.875	0.26897	N	0.967209	B	0.25235	0.121	B	0.30105	0.111	T	0.41645	-0.9497	10	0.54805	T	0.06	.	4.2743	0.10800	0.0:0.3337:0.3456:0.3207	.	13	Q9UBG3	CRNN_HUMAN	D	13	ENSP00000271835:E13D	ENSP00000271835:E13D	E	-	3	2	CRNN	150651295	0.011000	0.17503	0.987000	0.45799	0.305000	0.27757	-1.312000	0.02720	-0.135000	0.11495	0.591000	0.81541	GAG		0.502	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		5	143	0	0	0	0.000602	0	5	143				
FAM189B	10712	broad.mit.edu	37	1	155220391	155220391	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:155220391G>A	ENST00000361361.2	-	9	1695	c.1186C>T	c.(1186-1188)Cca>Tca	p.P396S	FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000350210.2_Missense_Mutation_p.P300S|FAM189B_ENST00000368368.3_Missense_Mutation_p.P378S	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	396						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)	p.P396S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCAGCCCGTGGGGGGCGCCGT	0.716																																							uc001fjm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1186-1188)CCA>TCA		hypothetical protein LOC10712 isoform a							8.0	10.0	10.0					1																	155220391		2033	4065	6098	SO:0001583	missense	10712					integral to membrane	WW domain binding	g.chr1:155220391G>A	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1186C>T	1.37:g.155220391G>A	ENSP00000354958:p.Pro396Ser					RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.P198S|FAM189B_uc001fjn.2_Missense_Mutation_p.P300S|FAM189B_uc001fjo.2_Missense_Mutation_p.P378S|FAM189B_uc001fjp.2_Intron	p.P396S	NM_006589	NP_006580	P81408	F189B_HUMAN			9	1792	-			396					B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	c.1186C>T	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173404	0.78452	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361	T;T;T	0.03272	3.99;3.99;3.99	4.12	4.12	0.48240	.	0.178497	0.36303	N	0.002662	T	0.02193	0.0068	N	0.08118	0	0.31174	N	0.702813	D;D;D;D	0.76494	0.999;0.993;0.996;0.993	D;D;D;D	0.85130	0.997;0.968;0.986;0.968	T	0.53788	-0.8389	10	0.15952	T	0.53	.	10.1569	0.42827	0.0:0.2036:0.7964:0.0	.	161;378;300;396	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	S	300;378;396;106	ENSP00000307128:P300S;ENSP00000357352:P378S;ENSP00000354958:P396S	ENSP00000323164:P106S	P	-	1	0	FAM189B	153487015	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	2.736000	0.47385	2.301000	0.77427	0.563000	0.77884	CCA		0.716	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		8	15	0	0	0	0.008291	0	8	15				
BCAN	63827	broad.mit.edu	37	1	156622549	156622549	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:156622549G>T	ENST00000329117.5	+	8	2143	c.1807G>T	c.(1807-1809)Ggt>Tgt	p.G603C	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.G603C	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	603					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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.G603C(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCCCTGAGGGTACCAGGGA	0.647																																							uc001fpp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1807-1809)GGT>TGT		brevican isoform 1							24.0	28.0	27.0					1																	156622549		2203	4298	6501	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156622549G>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1807G>T	1.37:g.156622549G>T	ENSP00000331210:p.Gly603Cys					BCAN_uc001fpo.2_Missense_Mutation_p.G603C	p.G603C	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			8	2143	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		603					D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1807G>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191452	0.58017	.	.	ENSG00000132692	ENST00000329117;ENST00000361588	T;T	0.15487	2.42;2.97	4.07	3.16	0.36331	.	0.851889	0.09947	N	0.735133	T	0.12390	0.0301	N	0.19112	0.55	0.35348	D	0.787099	D;D	0.69078	0.979;0.997	B;D	0.63192	0.417;0.912	T	0.09015	-1.0694	10	0.54805	T	0.06	-1.5955	8.7693	0.34722	0.1081:0.0:0.8919:0.0	.	603;603	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	C	603	ENSP00000331210:G603C;ENSP00000354925:G603C	ENSP00000331210:G603C	G	+	1	0	BCAN	154889173	0.970000	0.33590	0.984000	0.44739	0.970000	0.65996	0.721000	0.25911	0.934000	0.37316	0.455000	0.32223	GGT		0.647	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		7	32	1	0	3.09899e-07	0.004482	3.72175e-07	7	32				
CD1B	910	broad.mit.edu	37	1	158299405	158299405	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:158299405C>T	ENST00000368168.3	-	4	748	c.641G>A	c.(640-642)aGt>aAt	p.S214N		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	214	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.S214N(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGGTCCAGGACTGGGGCCACT	0.547																																							uc001frx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(640-642)AGT>AAT		CD1B antigen precursor							58.0	59.0	59.0					1																	158299405		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299405C>T	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.641G>A	1.37:g.158299405C>T	ENSP00000357150:p.Ser214Asn					CD1B_uc001frw.2_Missense_Mutation_p.S107N	p.S214N	NM_001764	NP_001755	P29016	CD1B_HUMAN			4	749	-	all_hematologic(112;0.0378)		214			Extracellular (Potential).|Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.641G>A	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	C	9.617	1.132764	0.21041	.	.	ENSG00000158485	ENST00000368168	T	0.15017	2.46	4.0	-0.527	0.11909	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);	0.957140	0.08567	N	0.926583	T	0.06917	0.0176	L	0.47716	1.5	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.004;0.005	T	0.43147	-0.9409	10	0.44086	T	0.13	-2.1239	14.5206	0.67847	0.0:0.2537:0.7463:0.0	.	214;214	P29016;P29016-2	CD1B_HUMAN;.	N	214	ENSP00000357150:S214N	ENSP00000357150:S214N	S	-	2	0	CD1B	156566029	0.001000	0.12720	0.302000	0.25058	0.997000	0.91878	-0.179000	0.09768	-0.146000	0.11274	0.655000	0.94253	AGT		0.547	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		4	97	0	0	0	0.009096	0	4	97				
SPTA1	6708	broad.mit.edu	37	1	158607998	158607998	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:158607998C>G	ENST00000368147.4	-	36	5194	c.5014G>C	c.(5014-5016)Gat>Cat	p.D1672H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1672					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D1672H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGAGCAAATCTTCAGCCAAT	0.418																																							uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5014-5016)GAT>CAT		spectrin, alpha, erythrocytic 1							76.0	71.0	73.0					1																	158607998		1886	4106	5992	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158607998C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5014G>C	1.37:g.158607998C>G	ENSP00000357129:p.Asp1672His						p.D1672H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			36	5213	-	all_hematologic(112;0.0378)		1672			Spectrin 16.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5014G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	5.890	0.348302	0.11126	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	5.36	2.34	0.29019	.	0.516506	0.14488	N	0.316510	T	0.13200	0.0320	N	0.19112	0.55	0.23984	N	0.99626	B	0.15141	0.012	B	0.24394	0.053	T	0.19943	-1.0290	10	0.49607	T	0.09	.	4.834	0.13454	0.0:0.422:0.3376:0.2403	.	1672	P02549	SPTA1_HUMAN	H	1672	ENSP00000357130:D1672H;ENSP00000357129:D1672H	ENSP00000357129:D1672H	D	-	1	0	SPTA1	156874622	0.998000	0.40836	0.125000	0.21846	0.128000	0.20619	2.948000	0.49066	0.825000	0.34637	0.591000	0.81541	GAT		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		21	69	0	0	0	0.00333	0	21	69				
SPTA1	6708	broad.mit.edu	37	1	158644338	158644339	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:158644338_158644339GC>AA	ENST00000368147.4	-	9	1419_1420	c.1239_1240GC>TT	c.(1237-1242)caGCag>caTTag	p.413_414QQ>H*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	413					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q413_Q414>H*(1)|p.Q414K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTTATGCTGCTGATGCCTGT	0.51																																							uc001fst.1		NA																	2	Substitution - Missense(1)|Complex - compound substitution(1)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1237-1242)CAGCAG>CATTAG		spectrin, alpha, erythrocytic 1																																				SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158644338_158644339GC>AA	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1239_1240delinsAA	1.37:g.158644338_158644339delinsAA	ENSP00000357129:p.Q413_Q414delinsH*						p.413_414QQ>H*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			9	1438_1439	-	all_hematologic(112;0.0378)		413_414			Spectrin 5.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	DNP	ENST00000368147.4	37	c.1239_1240GC>TT	CCDS41423.1																																																																																				0.510	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		9	212	0	0	0	0.004672	0	9	212				
OR6N1	128372	broad.mit.edu	37	1	158736290	158736290	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:158736290G>T	ENST00000335094.2	-	1	202	c.183C>A	c.(181-183)caC>caA	p.H61Q		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H61Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGCTGACAAAGTGGTACATGG	0.483																																							uc010piq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(181-183)CAC>CAA		olfactory receptor, family 6, subfamily N,							95.0	91.0	92.0					1																	158736290		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158736290G>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.183C>A	1.37:g.158736290G>T	ENSP00000335535:p.His61Gln						p.H61Q	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	183	-	all_hematologic(112;0.0378)		61			Helical; Name=2; (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.183C>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	2.548	-0.304741	0.05495	.	.	ENSG00000197403	ENST00000335094	T	0.00529	6.78	5.1	-10.2	0.00374	GPCR, rhodopsin-like superfamily (1);	1.326670	0.05070	N	0.481576	T	0.00073	0.0002	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42916	-0.9423	10	0.66056	D	0.02	-0.1884	1.0157	0.01507	0.2654:0.208:0.1106:0.416	.	61	Q8NGY5	OR6N1_HUMAN	Q	61	ENSP00000335535:H61Q	ENSP00000335535:H61Q	H	-	3	2	OR6N1	157002914	0.000000	0.05858	0.013000	0.15412	0.167000	0.22549	-2.740000	0.00799	-1.944000	0.01038	-0.136000	0.14681	CAC		0.483	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		24	63	1	0	4.87955e-14	0.005443	6.93265e-14	24	63				
APCS	325	broad.mit.edu	37	1	159558097	159558097	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:159558097A>T	ENST00000255040.2	+	2	368	c.271A>T	c.(271-273)Agt>Tgt	p.S91C		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	91	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)	p.S91C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGGAGAGTATAGTCTATACAT	0.443																																							uc001ftv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(271-273)AGT>TGT		serum amyloid P component precursor							92.0	93.0	93.0					1																	159558097		2203	4300	6503	SO:0001583	missense	325				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	g.chr1:159558097A>T		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.271A>T	1.37:g.159558097A>T	ENSP00000255040:p.Ser91Cys						p.S91C	NM_001639	NP_001630	P02743	SAMP_HUMAN			2	367	+	all_hematologic(112;0.0429)		91			Pentaxin.			Missense_Mutation	SNP	ENST00000255040.2	37	c.271A>T	CCDS1186.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579476	0.46006	.	.	ENSG00000132703	ENST00000255040	T	0.08984	3.03	4.25	0.487	0.16842	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.843089	0.11262	N	0.582509	T	0.13884	0.0336	M	0.87617	2.895	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.04976	-1.0914	10	0.62326	D	0.03	-1.4616	3.8456	0.08933	0.648:0.0:0.1856:0.1665	.	91	P02743	SAMP_HUMAN	C	91	ENSP00000255040:S91C	ENSP00000255040:S91C	S	+	1	0	APCS	157824721	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.408000	0.07169	-0.028000	0.13850	0.533000	0.62120	AGT		0.443	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		77	73	0	0	0	0.00361	0	77	73				
VANGL2	57216	broad.mit.edu	37	1	160390211	160390211	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:160390211G>T	ENST00000368061.2	+	5	1285	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L	VANGL2_ENST00000483408.1_Intron	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	271					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.V271L(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCCAGCGCGTGGCAGTGTG	0.607																																							uc001fwb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(811-813)GTG>TTG		vang-like 2							134.0	111.0	119.0					1																	160390211		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160390211G>T	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.811G>T	1.37:g.160390211G>T	ENSP00000357040:p.Val271Leu					VANGL2_uc001fwc.1_Missense_Mutation_p.V271L	p.V271L	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		6	1110	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		271			Cytoplasmic (Potential).		D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.811G>T	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030603	0.75504	.	.	ENSG00000162738	ENST00000368061	T	0.80033	-1.33	4.9	4.9	0.64082	.	0.133811	0.49916	D	0.000126	T	0.61602	0.2360	N	0.14661	0.345	0.44789	D	0.997794	B	0.28055	0.199	B	0.33799	0.17	T	0.67492	-0.5657	10	0.62326	D	0.03	-16.9785	16.804	0.85621	0.0:0.0:1.0:0.0	.	271	Q9ULK5	VANG2_HUMAN	L	271	ENSP00000357040:V271L	ENSP00000357040:V271L	V	+	1	0	VANGL2	158656835	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.184000	0.94893	2.537000	0.85549	0.561000	0.74099	GTG		0.607	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		33	63	1	0	5.04308e-16	0.00623	7.51968e-16	33	63				
SLAMF7	57823	broad.mit.edu	37	1	160709145	160709145	+	Splice_Site	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:160709145A>T	ENST00000368043.3	+	1	91	c.54A>T	c.(52-54)acA>acT	p.T18T	SLAMF7_ENST00000458104.2_Splice_Site_p.T18T|SLAMF7_ENST00000368042.3_Splice_Site_p.T18T|SLAMF7_ENST00000458602.2_Splice_Site_p.T18T|SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000359331.4_Splice_Site_p.T18T|SLAMF7_ENST00000441662.2_Splice_Site_p.T18T|SLAMF7_ENST00000444090.2_Splice_Site_p.T18T	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	18					cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T18T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGCAGCTCACAGGTGAGTCCG	0.532																																							uc001fwq.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(52-54)ACA>ACT		SLAM family member 7							148.0	133.0	138.0					1																	160709145		2203	4300	6503	SO:0001630	splice_region_variant	57823				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	g.chr1:160709145A>T	AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.55+1A>T	1.37:g.160709145A>T						SLAMF7_uc010pjn.1_Silent_p.T18T|SLAMF7_uc001fws.2_Silent_p.T18T|SLAMF7_uc001fwr.2_Silent_p.T18T|SLAMF7_uc010pjo.1_Silent_p.T18T|SLAMF7_uc010pjp.1_Silent_p.T18T|SLAMF7_uc010pjq.1_Silent_p.T18T|SLAMF7_uc010pjr.1_Silent_p.T18T	p.T18T	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	69	+	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		18					A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Silent	SNP	ENST00000368043.3	37	c.54A>T	CCDS1209.1																																																																																				0.532	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181	Silent	48	65	0	0	0	0.00361	0	48	65				
OLFML2B	25903	broad.mit.edu	37	1	161953809	161953809	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:161953809C>A	ENST00000294794.3	-	8	2332	c.1909G>T	c.(1909-1911)Gac>Tac	p.D637Y	OLFML2B_ENST00000367938.1_Missense_Mutation_p.D120Y|OLFML2B_ENST00000367940.2_Missense_Mutation_p.D638Y	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	637	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.D637Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCCTCATCGTCCAGGGCCGGG	0.637																																							uc001gbu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1909-1911)GAC>TAC		olfactomedin-like 2B precursor							70.0	63.0	65.0					1																	161953809		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161953809C>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1909G>T	1.37:g.161953809C>A	ENSP00000294794:p.Asp637Tyr					OLFML2B_uc001gbt.2_Missense_Mutation_p.D120Y|OLFML2B_uc010pkq.1_Missense_Mutation_p.D638Y	p.D637Y	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2333	-	all_hematologic(112;0.156)		637			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1909G>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265312	0.80358	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.89415	-2.51;-2.51;-2.51	5.36	5.36	0.76844	Olfactomedin-like (3);	.	.	.	.	D	0.93549	0.7941	M	0.79614	2.46	0.43025	D	0.994587	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.981	D	0.94218	0.7465	8	0.87932	D	0	.	16.5695	0.84607	0.0:1.0:0.0:0.0	.	638;637	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	Y	637;638;120	ENSP00000294794:D637Y;ENSP00000356917:D638Y;ENSP00000356915:D120Y	ENSP00000294794:D637Y	D	-	1	0	OLFML2B	160220433	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.891000	0.69782	2.491000	0.84063	0.561000	0.74099	GAC		0.637	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		9	36	1	0	3.86212e-05	0.008291	4.37978e-05	9	36				
UCK2	7371	broad.mit.edu	37	1	165876981	165876982	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:165876981_165876982GG>TT	ENST00000367879.4	+	7	1010_1011	c.707_708GG>TT	c.(706-708)cGG>cTT	p.R236L	UCK2_ENST00000470820.1_Missense_Mutation_p.R86L|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.R86L	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	236					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)	p.R236L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCCTCCAAACGGCAGACCAATG	0.619																																							uc001gdp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(706-708)CGG>CTT		uridine-cytidine kinase 2																																				SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165876981_165876982GG>TT	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	Exception_encountered	1.37:g.165876981_165876982delinsTT	ENSP00000356853:p.Arg236Leu					UCK2_uc010plb.1_Missense_Mutation_p.R98L	p.R236L	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN			7	888_889	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		236					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	DNP	ENST00000367879.4	37	c.707_708GG>TT	CCDS1252.1																																																																																				0.619	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		36	54	0	0	0	0.004672	0	36	54				
TNR	7143	broad.mit.edu	37	1	175375584	175375584	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:175375584C>T	ENST00000367674.2	-	3	975	c.267G>A	c.(265-267)caG>caA	p.Q89Q	TNR_ENST00000263525.2_Silent_p.Q89Q			Q92752	TENR_HUMAN	tenascin R	89					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.Q89Q(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACTCACCTCCTGCTCAGCAG	0.547																																							uc001gkp.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(265-267)CAG>CAA		tenascin R precursor							186.0	156.0	166.0					1																	175375584		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375584C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.267G>A	1.37:g.175375584C>T						TNR_uc009wwu.1_Silent_p.Q89Q|TNR_uc010pmz.1_Silent_p.Q89Q	p.Q89Q	NM_003285	NP_003276	Q92752	TENR_HUMAN			1	348	-	Renal(580;0.146)		89					C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.267G>A	CCDS1318.1																																																																																				0.547	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		46	46	0	0	0	0.011902	0	46	46				
ASTN1	460	broad.mit.edu	37	1	176903321	176903321	+	Nonsense_Mutation	SNP	G	G	A	rs267598195		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:176903321G>A	ENST00000367654.3	-	16	2873	c.2662C>T	c.(2662-2664)Cga>Tga	p.R888*	ASTN1_ENST00000281881.3_5'Flank|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.R880*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.R880*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.R880*	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	888					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R880*(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCCAGAGTCGCCGCTGGACC	0.502																																							uc001glc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2638-2640)CGA>TGA		astrotactin isoform 1							103.0	86.0	92.0					1																	176903321		2203	4300	6503	SO:0001587	stop_gained	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176903321G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2662C>T	1.37:g.176903321G>A	ENSP00000356626:p.Arg888*					ASTN1_uc001glb.1_Nonsense_Mutation_p.R880*|ASTN1_uc001gld.1_Nonsense_Mutation_p.R880*	p.R880*	NM_004319	NP_004310	O14525	ASTN1_HUMAN			16	2850	-			888					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Nonsense_Mutation	SNP	ENST00000367654.3	37	c.2638C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.227353	0.98714	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.91	1.64	0.23874	.	0.057596	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-14.5795	15.4066	0.74884	0.0:0.0:0.5106:0.4894	.	.	.	.	X	880;880;888;880;880	.	ENSP00000354536:R880X	R	-	1	2	ASTN1	175169944	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.354000	0.59417	0.348000	0.23949	0.655000	0.94253	CGA		0.502	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		5	74	0	0	0	0.001168	0	5	74				
CACNA1E	777	broad.mit.edu	37	1	181727186	181727186	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:181727186C>T	ENST00000367573.2	+	31	4433	c.4433C>T	c.(4432-4434)cCg>cTg	p.P1478L	CACNA1E_ENST00000526775.1_Missense_Mutation_p.P1459L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1429L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1459L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1085L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1410L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1478L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1478					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.P1478L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTGGTGTCTCCGTCCTTTGAG	0.557																																							uc001gow.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4432-4434)CCG>CTG		calcium channel, voltage-dependent, R type,							128.0	133.0	131.0					1																	181727186		2153	4243	6396	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181727186C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4433C>T	1.37:g.181727186C>T	ENSP00000356545:p.Pro1478Leu					CACNA1E_uc009wxs.2_Missense_Mutation_p.P1366L|CACNA1E_uc001gox.1_Missense_Mutation_p.P704L|CACNA1E_uc009wxt.2_Missense_Mutation_p.P704L	p.P1478L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			31	4598	+			1478			IV.|Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4433C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911280	0.92178	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52;-4.52;-4.52	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	M	0.77103	2.36	0.80722	D	1	P;D;D	0.89917	0.822;0.972;1.0	P;D;D	0.91635	0.516;0.914;0.999	D	0.99862	1.1084	10	0.87932	D	0	.	18.5085	0.90907	0.0:1.0:0.0:0.0	.	1459;1478;1478	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1478;1459;1429;1410;1085;1459;1478	ENSP00000356542:P1478L;ENSP00000434814:P1459L;ENSP00000350183:P1429L;ENSP00000351101:P1410L;ENSP00000356539:P1085L;ENSP00000353222:P1459L;ENSP00000356545:P1478L	ENSP00000350183:P1429L	P	+	2	0	CACNA1E	179993809	1.000000	0.71417	0.172000	0.22920	0.948000	0.59901	7.711000	0.84669	2.465000	0.83290	0.655000	0.94253	CCG		0.557	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		17	60	0	0	0	0.00499	0	17	60				
PTGS2	5743	broad.mit.edu	37	1	186643683	186643683	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:186643683T>G	ENST00000367468.5	-	10	1753	c.1617A>C	c.(1615-1617)gaA>gaC	p.E539D	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	539					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.E539D(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GAAAACCCACTTCTCCACCAA	0.443																																							uc001gsb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1615-1617)GAA>GAC		prostaglandin-endoperoxide synthase 2 precursor	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						180.0	160.0	167.0					1																	186643683		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|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.chr1:186643683T>G	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1617A>C	1.37:g.186643683T>G	ENSP00000356438:p.Glu539Asp					PTGS2_uc009wyo.2_Missense_Mutation_p.E386D	p.E539D	NM_000963	NP_000954	P35354	PGH2_HUMAN			10	1754	-			539					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.1617A>C	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.934298	0.34096	.	.	ENSG00000073756	ENST00000367468	T	0.21031	2.03	5.34	2.89	0.33648	.	0.404686	0.31031	N	0.008396	T	0.14787	0.0357	L	0.46885	1.475	0.30543	N	0.766239	B	0.02656	0.0	B	0.04013	0.001	T	0.04268	-1.0964	10	0.30854	T	0.27	-25.7903	4.1211	0.10106	0.1113:0.0704:0.2216:0.5968	.	539	P35354	PGH2_HUMAN	D	539	ENSP00000356438:E539D	ENSP00000356438:E539D	E	-	3	2	PTGS2	184910306	0.988000	0.35896	1.000000	0.80357	0.996000	0.88848	0.157000	0.16402	2.002000	0.58637	0.528000	0.53228	GAA		0.443	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		66	82	0	0	0	0.00361	0	66	82				
BRINP3	339479	broad.mit.edu	37	1	190067374	190067374	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:190067374G>T	ENST00000367462.3	-	8	2306	c.2075C>A	c.(2074-2076)aCt>aAt	p.T692N	BRINP3_ENST00000534846.1_Missense_Mutation_p.T590N	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	692					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.T692N(1)									GGATCCCTGAGTATAGGGGTA	0.453																																							uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2074-2076)ACT>AAT		family with sequence similarity 5, member C							102.0	101.0	101.0					1																	190067374		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067374G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2075C>A	1.37:g.190067374G>T	ENSP00000356432:p.Thr692Asn					FAM5C_uc010pot.1_Missense_Mutation_p.T590N	p.T692N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2307	-	Prostate(682;0.198)		692					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2075C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979534	0.53827	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21734	2.24;1.99	5.72	4.81	0.61882	.	0.111229	0.64402	D	0.000009	T	0.29423	0.0733	M	0.71581	2.175	0.50632	D	0.999885	D;P	0.52996	0.957;0.928	P;B	0.45343	0.477;0.284	T	0.12656	-1.0539	10	0.87932	D	0	.	12.3677	0.55238	0.0814:0.0:0.9185:0.0	.	590;692	B7Z260;Q76B58	.;FAM5C_HUMAN	N	692;590	ENSP00000356432:T692N;ENSP00000438022:T590N	ENSP00000356432:T692N	T	-	2	0	FAM5C	188333997	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.760000	0.98935	1.422000	0.47177	0.650000	0.86243	ACT		0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		28	93	1	0	7.01153e-11	0.007291	9.4112e-11	28	93				
ZBTB41	360023	broad.mit.edu	37	1	197169211	197169211	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:197169211T>A	ENST00000367405.4	-	1	461	c.393A>T	c.(391-393)gtA>gtT	p.V131V	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	131	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V131V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTGAATGTGTTACGTGATCCA	0.353																																							uc001gtx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(391-393)GTA>GTT		zinc finger and BTB domain containing 41							64.0	62.0	63.0					1																	197169211		2203	4300	6503	SO:0001819	synonymous_variant	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197169211T>A		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.393A>T	1.37:g.197169211T>A						ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	p.V131V	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			1	462	-			131			BTB.		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Silent	SNP	ENST00000367405.4	37	c.393A>T	CCDS30960.1																																																																																				0.353	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		23	41	0	0	0	0.004656	0	23	41				
KIF14	9928	broad.mit.edu	37	1	200587437	200587437	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:200587437C>A	ENST00000367350.4	-	2	853	c.415G>T	c.(415-417)Gat>Tat	p.D139Y		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	139	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.D139Y(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTGACAGAATCTATTTCAGCT	0.348																																							uc010ppk.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(2)	7						c.(415-417)GAT>TAT		kinesin family member 14							93.0	96.0	95.0					1																	200587437		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200587437C>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.415G>T	1.37:g.200587437C>A	ENSP00000356319:p.Asp139Tyr					KIF14_uc010ppj.1_5'UTR	p.D139Y	NM_014875	NP_055690	Q15058	KIF14_HUMAN			2	854	-			139			Required for PRC1-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.415G>T	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	8.349	0.830408	0.16749	.	.	ENSG00000118193	ENST00000367350	T	0.74526	-0.85	1.94	0.991	0.19813	.	.	.	.	.	T	0.55257	0.1909	N	0.14661	0.345	0.09310	N	1	P	0.36616	0.561	B	0.38562	0.276	T	0.49485	-0.8935	9	0.59425	D	0.04	.	4.35	0.11151	0.0:0.7925:0.0:0.2075	.	139	Q15058	KIF14_HUMAN	Y	139	ENSP00000356319:D139Y	ENSP00000356319:D139Y	D	-	1	0	KIF14	198854060	0.111000	0.22076	0.000000	0.03702	0.014000	0.08584	1.259000	0.32956	0.401000	0.25424	0.655000	0.94253	GAT		0.348	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		38	68	1	0	1.60099e-16	0.004878	2.40627e-16	38	68				
CACNA1S	779	broad.mit.edu	37	1	201061212	201061212	+	Missense_Mutation	SNP	G	G	C	rs553580116		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:201061212G>C	ENST00000362061.3	-	4	655	c.429C>G	c.(427-429)aaC>aaG	p.N143K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.N143K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	143					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.N143K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTGGATGACGTTAACCTGTT	0.592																																							uc001gvv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(427-429)AAC>AAG		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						95.0	92.0	93.0					1																	201061212		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201061212G>C	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.429C>G	1.37:g.201061212G>C	ENSP00000355192:p.Asn143Lys						p.N143K	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			4	656	-			143			Extracellular (Potential).|I.		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.429C>G	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845462	0.32606	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98512	-4.97;-4.97	4.48	3.56	0.40772	Ion transport (1);	0.881993	0.10062	N	0.720863	D	0.95900	0.8665	L	0.52011	1.625	0.36573	D	0.873107	P	0.43662	0.814	B	0.38562	0.276	D	0.93880	0.7170	10	0.49607	T	0.09	.	6.5791	0.22583	0.2667:0.0:0.7333:0.0	.	143	Q13698	CAC1S_HUMAN	K	143	ENSP00000355192:N143K;ENSP00000356307:N143K	ENSP00000355192:N143K	N	-	3	2	CACNA1S	199327835	0.000000	0.05858	0.951000	0.38953	0.978000	0.69477	0.140000	0.16056	1.007000	0.39238	0.655000	0.94253	AAC		0.592	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		31	82	0	0	0	0.012213	0	31	82				
TRAF3IP3	80342	broad.mit.edu	37	1	209935992	209935992	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:209935992C>A	ENST00000367024.1	+	4	994	c.478C>A	c.(478-480)Ccc>Acc	p.P160T	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P160T|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P140T|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P140T|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.P140T			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	160						integral component of membrane (GO:0016021)		p.P140T(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAAGAAGCCACCCAAACACCA	0.597																																							uc001hho.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(478-480)CCC>ACC		TRAF3-interacting JNK-activating modulator							54.0	59.0	57.0					1																	209935992		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209935992C>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.478C>A	1.37:g.209935992C>A	ENSP00000355991:p.Pro160Thr					TRAF3IP3_uc001hhl.2_Missense_Mutation_p.P140T|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.P160T|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.P140T|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.P160T	p.P160T	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	4	768	+			160			Cytoplasmic (Potential).		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.478C>A	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771113	0.31320	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.41065	1.01;1.02;1.02;1.02;1.02	4.74	3.82	0.43975	.	0.713114	0.12948	N	0.426047	T	0.30854	0.0778	L	0.36672	1.1	0.23598	N	0.997325	B;B;B;B	0.26547	0.066;0.027;0.152;0.065	B;B;B;B	0.21708	0.036;0.025;0.036;0.015	T	0.15867	-1.0422	10	0.15952	T	0.53	-0.5696	10.8157	0.46573	0.0:0.8088:0.1912:0.0	.	160;140;160;140	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	T	140;160;143;140;160;140	ENSP00000383743:P140T;ENSP00000355992:P160T;ENSP00000355993:P140T;ENSP00000355991:P160T;ENSP00000010338:P140T	ENSP00000010338:P140T	P	+	1	0	TRAF3IP3	208002615	0.200000	0.23398	1.000000	0.80357	0.961000	0.63080	1.118000	0.31246	1.208000	0.43306	0.585000	0.79938	CCC		0.597	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			18	21	1	0	8.34094e-07	0.008871	9.85985e-07	18	21				
KCNH1	3756	broad.mit.edu	37	1	211192199	211192199	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:211192199C>A	ENST00000271751.4	-	6	985	c.958G>T	c.(958-960)Gcc>Tcc	p.A320S	KCNH1_ENST00000367007.4_Intron			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	320					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.A320S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCCATAAAGGCACTAACCTCA	0.473																																							uc001hib.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(958-960)GCC>TCC		potassium voltage-gated channel, subfamily H,							222.0	196.0	205.0					1																	211192199		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192199C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.958G>T	1.37:g.211192199C>A	ENSP00000271751:p.Ala320Ser					KCNH1_uc001hic.2_Intron	p.A320S	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	1128	-			320			Extracellular (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.958G>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	c	12.41	1.929659	0.34096	.	.	ENSG00000143473	ENST00000271751	D	0.98493	-4.96	5.28	4.36	0.52297	Ion transport (1);	0.567938	0.15438	N	0.262347	D	0.91533	0.7326	N	0.02315	-0.6	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	D	0.87135	0.2199	10	0.44086	T	0.13	.	6.0246	0.19648	0.1892:0.7164:0.0:0.0944	.	320	O95259	KCNH1_HUMAN	S	320	ENSP00000271751:A320S	ENSP00000271751:A320S	A	-	1	0	KCNH1	209258822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.329000	0.33770	2.468000	0.83385	0.558000	0.71614	GCC		0.473	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		46	91	1	0	8.86878e-18	0.00361	1.3546e-17	46	91				
USH2A	7399	broad.mit.edu	37	1	216262470	216262470	+	Silent	SNP	C	C	T	rs546481031		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:216262470C>T	ENST00000307340.3	-	23	5156	c.4770G>A	c.(4768-4770)gtG>gtA	p.V1590V	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Silent_p.V1590V|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1590	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V1590V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGTTACTTCCACTGGTGACC	0.328										HNSCC(13;0.011)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		19305	0.0		0.0	False		,,,				2504	0.0						uc001hku.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(4768-4770)GTG>GTA		usherin isoform B							171.0	157.0	162.0					1																	216262470		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216262470C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4770G>A	1.37:g.216262470C>T		HNSCC(13;0.011)					p.V1590V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	23	5157	-			1590			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.4770G>A	CCDS31025.1																																																																																				0.328	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		21	83	0	0	0	0.002299	0	21	83				
USH2A	7399	broad.mit.edu	37	1	216465702	216465702	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:216465702C>A	ENST00000307340.3	-	10	2041	c.1655G>T	c.(1654-1656)tGc>tTc	p.C552F	USH2A_ENST00000366942.3_Missense_Mutation_p.C552F|USH2A_ENST00000366943.2_Missense_Mutation_p.C552F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	552	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.C552F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGAGGCAAGCAGCGATCACA	0.363										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1654-1656)TGC>TTC		usherin isoform B							67.0	64.0	65.0					1																	216465702		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216465702C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1655G>T	1.37:g.216465702C>A	ENSP00000305941:p.Cys552Phe	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.C552F	p.C552F	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	10	2042	-			552			Laminin EGF-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1655G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851238	0.71719	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.97811	-4.55;-4.55;-4.55	4.51	4.51	0.55191	EGF-like, laminin (3);	0.000000	0.46145	U	0.000305	D	0.99302	0.9756	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.98485	1.0607	10	0.87932	D	0	.	17.6043	0.88034	0.0:1.0:0.0:0.0	.	552;552	O75445-2;O75445	.;USH2A_HUMAN	F	552	ENSP00000305941:C552F;ENSP00000355910:C552F;ENSP00000355909:C552F	ENSP00000305941:C552F	C	-	2	0	USH2A	214532325	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.143000	0.64826	2.230000	0.72887	0.467000	0.42956	TGC		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		13	40	1	0	0.000151284	0.001855	0.000169017	13	40				
IBA57	200205	broad.mit.edu	37	1	228362629	228362629	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:228362629G>C	ENST00000366711.3	+	2	580	c.578G>C	c.(577-579)cGc>cCc	p.R193P	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_5'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	193					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)	p.R193P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CGAACAGCACGCATGGGGTGG	0.692																																							uc001hsl.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(577-579)CGC>CCC		hypothetical protein LOC200205 precursor							16.0	20.0	18.0					1																	228362629		2196	4288	6484	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362629G>C	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.578G>C	1.37:g.228362629G>C	ENSP00000355672:p.Arg193Pro					C1orf69_uc010pvw.1_5'UTR	p.R193P	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN			2	667	+		Prostate(94;0.0405)	193						Missense_Mutation	SNP	ENST00000366711.3	37	c.578G>C	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338885	0.24253	.	.	ENSG00000181873	ENST00000366711	T	0.74526	-0.85	4.89	4.89	0.63831	Glycine cleavage T-protein, N-terminal (1);	1.156850	0.05944	N	0.637639	T	0.72220	0.3433	L	0.58101	1.795	0.80722	D	1	B	0.15141	0.012	B	0.23716	0.048	T	0.59915	-0.7364	10	0.31617	T	0.26	-9.0371	8.2881	0.31941	0.0:0.1387:0.6424:0.2189	.	193	Q5T440	CAF17_HUMAN	P	193	ENSP00000355672:R193P	ENSP00000355672:R193P	R	+	2	0	IBA57	226429252	0.942000	0.31987	0.947000	0.38551	0.162000	0.22319	3.198000	0.51035	2.530000	0.85305	0.655000	0.94253	CGC		0.692	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		8	21	0	0	0	0.004482	0	8	21				
ZP4	57829	broad.mit.edu	37	1	238053432	238053432	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:238053432C>A	ENST00000366570.4	-	2	378	c.220G>T	c.(220-222)Ggc>Tgc	p.G74C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	74					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.G74C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATCCAGGTGCCACAGTCGGAG	0.562																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(220-222)GGC>TGC		zona pellucida glycoprotein 4 preproprotein							99.0	87.0	91.0					1																	238053432		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053432C>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.220G>T	1.37:g.238053432C>A	ENSP00000355529:p.Gly74Cys					LOC100130331_uc010pyc.1_Intron	p.G74C	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	220	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	74			Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.220G>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843152	0.51057	.	.	ENSG00000116996	ENST00000366570	T	0.80480	-1.38	4.98	4.98	0.66077	.	0.162023	0.37761	N	0.001949	D	0.90021	0.6884	M	0.84846	2.72	0.42596	D	0.993267	D	0.89917	1.0	D	0.97110	1.0	D	0.91707	0.5378	10	0.87932	D	0	-26.9385	13.7404	0.62845	0.0:1.0:0.0:0.0	.	74	Q12836	ZP4_HUMAN	C	74	ENSP00000355529:G74C	ENSP00000355529:G74C	G	-	1	0	ZP4	236120055	0.994000	0.37717	0.547000	0.28179	0.325000	0.28411	2.851000	0.48302	2.299000	0.77371	0.655000	0.94253	GGC		0.562	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			17	65	1	0	5.35267e-07	0.007413	6.39771e-07	17	65				
OR2W3	343171	broad.mit.edu	37	1	248059435	248059435	+	Missense_Mutation	SNP	G	G	T	rs201811838	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:248059435G>T	ENST00000360358.3	+	1	547	c.547G>T	c.(547-549)Gcc>Tcc	p.A183S	OR2W3_ENST00000537741.1_Missense_Mutation_p.A183S	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A183S(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAGATGCCCGCCCTGATCCG	0.637																																							uc001idp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(547-549)GCC>TCC		olfactory receptor, family 2, subfamily W,							127.0	105.0	112.0					1																	248059435		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059435G>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.547G>T	1.37:g.248059435G>T	ENSP00000353516:p.Ala183Ser					OR2W3_uc010pzb.1_Missense_Mutation_p.A183S	p.A183S	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	816	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		183			Extracellular (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.547G>T	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936470	0.34189	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00107	8.72;8.72	5.28	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.00271	0.0008	L	0.52206	1.635	0.09310	N	1	D	0.61080	0.989	D	0.68621	0.959	T	0.49254	-0.8959	10	0.56958	D	0.05	.	5.4106	0.16346	0.0813:0.3111:0.4944:0.1132	.	183	Q7Z3T1	OR2W3_HUMAN	S	183	ENSP00000445853:A183S;ENSP00000353516:A183S	ENSP00000353516:A183S	A	+	1	0	OR2W3	246126058	0.000000	0.05858	0.026000	0.17262	0.275000	0.26752	-0.601000	0.05687	0.784000	0.33661	0.603000	0.83216	GCC		0.637	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		13	39	1	0	2.41591e-17	0.004656	3.66687e-17	13	39				
OR2AK2	391191	broad.mit.edu	37	1	248128993	248128993	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:248128993G>T	ENST00000366480.3	+	1	459	c.360G>T	c.(358-360)ttG>ttT	p.L120F	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L120F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGTGTTCTTGGCCCTTGGTG	0.443																																					Melanoma(45;390 1181 23848 28461 41504)	Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(358-360)TTG>TTT		olfactory receptor, family 2, subfamily AK,							380.0	335.0	350.0					1																	248128993		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248128993G>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.360G>T	1.37:g.248128993G>T	ENSP00000355436:p.Leu120Phe					OR2L13_uc001ids.2_Intron	p.L120F	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	360	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		120			Helical; Name=3; (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.360G>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	14.52	2.561234	0.45590	.	.	ENSG00000187080	ENST00000366480	T	0.00560	6.6	3.03	-3.35	0.04928	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00666	0.0022	L	0.48218	1.51	0.09310	N	1	P	0.52842	0.956	P	0.53102	0.718	T	0.44847	-0.9301	9	0.72032	D	0.01	.	1.1108	0.01704	0.2022:0.3616:0.1992:0.2369	.	120	Q8NG84	O2AK2_HUMAN	F	120	ENSP00000355436:L120F	ENSP00000355436:L120F	L	+	3	2	OR2AK2	246195616	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-2.848000	0.00733	-0.600000	0.05790	0.455000	0.32223	TTG		0.443	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		59	203	1	0	2.53126e-37	0.00361	4.68314e-37	59	203				
OR2AK2	391191	broad.mit.edu	37	1	248129570	248129570	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:248129570A>T	ENST00000366480.3	+	1	1036	c.937A>T	c.(937-939)Acg>Tcg	p.T313S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T313S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TAAGGAAGTGACGGGGGCAGT	0.433																																					Melanoma(45;390 1181 23848 28461 41504)	Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(937-939)ACG>TCG		olfactory receptor, family 2, subfamily AK,							103.0	98.0	100.0					1																	248129570		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129570A>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.937A>T	1.37:g.248129570A>T	ENSP00000355436:p.Thr313Ser					OR2L13_uc001ids.2_Intron	p.T313S	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	937	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		313			Cytoplasmic (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.937A>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	9.930	1.214461	0.22289	.	.	ENSG00000187080	ENST00000366480	T	0.36878	1.23	3.04	-6.09	0.02145	.	.	.	.	.	T	0.09686	0.0238	N	0.03608	-0.345	0.09310	N	1	P	0.35793	0.521	B	0.28709	0.093	T	0.17379	-1.0371	9	0.26408	T	0.33	.	1.4915	0.02458	0.3251:0.3313:0.087:0.2565	.	313	Q8NG84	O2AK2_HUMAN	S	313	ENSP00000355436:T313S	ENSP00000355436:T313S	T	+	1	0	OR2AK2	246196193	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.364000	0.34171	-2.085000	0.00864	-0.566000	0.04163	ACG		0.433	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		32	38	0	0	0	0.010818	0	32	38				
OR2L2	26246	broad.mit.edu	37	1	248202292	248202292	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:248202292C>G	ENST00000366479.2	+	1	819	c.723C>G	c.(721-723)agC>agG	p.S241R	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S241R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAACCTGTAGCACCCACCTCA	0.502																																							uc001idw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(721-723)AGC>AGG		olfactory receptor, family 2, subfamily L,							225.0	200.0	209.0					1																	248202292		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202292C>G	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.723C>G	1.37:g.248202292C>G	ENSP00000355435:p.Ser241Arg					OR2L13_uc001ids.2_Intron	p.S241R	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	819	+	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)		241			Helical; Name=6; (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.723C>G	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	11.78	1.742165	0.30865	.	.	ENSG00000203663	ENST00000366479	T	0.38560	1.13	1.9	-1.81	0.07882	GPCR, rhodopsin-like superfamily (1);	0.532259	0.14230	U	0.332827	T	0.66597	0.2805	H	0.95114	3.625	0.09310	N	1	D	0.53885	0.963	P	0.62649	0.905	T	0.58572	-0.7613	10	0.87932	D	0	.	7.7808	0.29064	0.0:0.5396:0.0:0.4603	.	241	Q8NH16	OR2L2_HUMAN	R	241	ENSP00000355435:S241R	ENSP00000355435:S241R	S	+	3	2	OR2L2	246268915	0.000000	0.05858	0.076000	0.20297	0.044000	0.14063	-2.345000	0.01097	-0.399000	0.07668	0.194000	0.17425	AGC		0.502	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		41	59	0	0	0	0.010771	0	41	59				
TAF3	83860	broad.mit.edu	37	10	7866336	7866336	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:7866336G>T	ENST00000344293.5	+	2	428	c.222G>T	c.(220-222)ggG>ggT	p.G74G		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	74					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.G74G(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGCTGATGGGGGTTAGTCTAC	0.403																																							uc010qbd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(220-222)GGG>GGT		RNA polymerase II transcription factor TAFII140							179.0	162.0	167.0					10																	7866336		1900	4116	6016	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:7866336G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.222G>T	10.37:g.7866336G>T							p.G74G	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			2	222	+			74					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.222G>T	CCDS41487.1																																																																																				0.403	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		62	154	1	0	5.86059e-21	0.00361	9.49037e-21	62	154				
OLAH	55301	broad.mit.edu	37	10	15103797	15103797	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:15103797G>C	ENST00000378228.3	+	4	492	c.238G>C	c.(238-240)Gat>Cat	p.D80H	OLAH_ENST00000378217.3_Missense_Mutation_p.D133H	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	80					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)	p.D133H(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CCAGTTAGTTGATGAAGTTGT	0.423																																							uc001inu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(238-240)GAT>CAT		oleoyl-ACP hydrolase isoform 2							168.0	161.0	163.0					10																	15103797		2203	4300	6503	SO:0001583	missense	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15103797G>C	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.238G>C	10.37:g.15103797G>C	ENSP00000367473:p.Asp80His					ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.D133H	p.D80H	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN			4	492	+			80					Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	37	c.238G>C	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	g	14.56	2.571484	0.45798	.	.	ENSG00000152463	ENST00000428897;ENST00000429028;ENST00000378228;ENST00000378225;ENST00000378217	.	.	.	5.07	4.17	0.49024	Thioesterase (1);	0.444540	0.26948	N	0.021691	T	0.66626	0.2808	M	0.84773	2.715	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66847	0.942;0.947	T	0.60229	-0.7304	9	0.72032	D	0.01	-9.89	7.9089	0.29778	0.1855:0.0:0.8145:0.0	.	80;133	Q9NV23;Q9NV23-2	SAST_HUMAN;.	H	80;80;80;101;133	.	ENSP00000367462:D133H	D	+	1	0	OLAH	15143803	1.000000	0.71417	0.006000	0.13384	0.008000	0.06430	2.727000	0.47311	1.138000	0.42230	0.650000	0.86243	GAT		0.423	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		76	150	0	0	0	0.00361	0	76	150				
STAM	8027	broad.mit.edu	37	10	17737165	17737166	+	Missense_Mutation	DNP	TA	TA	AT	rs201231613		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:17737165_17737166TA>AT	ENST00000377524.3	+	7	868_869	c.653_654TA>AT	c.(652-654)aTA>aAT	p.I218N	RP11-390B4.3_ENST00000445235.1_RNA|STAM_ENST00000540523.1_Missense_Mutation_p.I107N	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	218	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)	p.I218N(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTTCGTGCTATATATGACTTTG	0.366																																							uc001ipj.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(652-654)ATA>AAT		signal transducing adaptor molecule 1																																				SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17737165_17737166TA>AT	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	Exception_encountered	10.37:g.17737165_17737166delinsAT	ENSP00000366746:p.Ile218Asn					STAM_uc010qcf.1_Missense_Mutation_p.I107N|STAM_uc009xjw.1_5'UTR	p.I218N	NM_003473	NP_003464	Q92783	STAM1_HUMAN			7	869_870	+			218			SH3.		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	DNP	ENST00000377524.3	37	c.653_654TA>AT	CCDS7122.1																																																																																				0.366	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		44	67	0	0	0	0.004672	0	44	67				
NEBL	10529	broad.mit.edu	37	10	21158739	21158739	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:21158739T>A	ENST00000377122.4	-	6	908	c.512A>T	c.(511-513)cAc>cTc	p.H171L	NEBL_ENST00000377119.1_Missense_Mutation_p.H171L|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	171					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.H171L(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACTGTACGTGTGGGTGTCCTG	0.378																																							uc001iqi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(511-513)CAC>CTC		nebulette sarcomeric isoform							212.0	175.0	188.0					10																	21158739		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21158739T>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.512A>T	10.37:g.21158739T>A	ENSP00000366326:p.His171Leu					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	p.H171L	NM_006393	NP_006384	O76041	NEBL_HUMAN			6	909	-			171			Nebulin 4.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.512A>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.510837	0.44660	.	.	ENSG00000078114	ENST00000377122;ENST00000377119	T;T	0.17054	3.58;2.3	5.97	5.97	0.96955	.	0.051514	0.85682	D	0.000000	T	0.15869	0.0382	L	0.34521	1.04	0.80722	D	1	B	0.24721	0.11	B	0.26770	0.073	T	0.07347	-1.0777	10	0.22706	T	0.39	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	171	O76041	NEBL_HUMAN	L	171	ENSP00000366326:H171L;ENSP00000366323:H171L	ENSP00000366323:H171L	H	-	2	0	NEBL	21198745	1.000000	0.71417	0.268000	0.24571	0.011000	0.07611	5.833000	0.69349	2.288000	0.76882	0.533000	0.62120	CAC		0.378	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		31	95	0	0	0	0.002836	0	31	95				
SKIDA1	387640	broad.mit.edu	37	10	21805106	21805106	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:21805106C>A	ENST00000449193.2	-	4	3898	c.1646G>T	c.(1645-1647)aGg>aTg	p.R549M	SKIDA1_ENST00000444772.3_Missense_Mutation_p.R470M	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	468						nucleus (GO:0005634)		p.R549M(2)									CTCAGATACCCTATCGTTCCT	0.542																																							uc009xkd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1645-1647)AGG>ATG		hypothetical protein LOC387640							65.0	68.0	67.0					10																	21805106		1991	4165	6156	SO:0001583	missense	387640					nucleus	nucleotide binding	g.chr10:21805106C>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1646G>T	10.37:g.21805106C>A	ENSP00000410041:p.Arg549Met					uc001iqp.1_Intron	p.R549M	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	3899	-			468					B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.1646G>T	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339209	0.60963	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.73	5.73	0.89815	.	0.161149	0.53938	D	0.000049	T	0.68220	0.2977	L	0.29908	0.895	0.53688	D	0.999979	D	0.89917	1.0	D	0.85130	0.997	T	0.70757	-0.4785	9	0.87932	D	0	-0.0625	18.8917	0.92407	0.0:1.0:0.0:0.0	.	549	E9PAX1	.	M	549;470	.	ENSP00000442432:R470M	R	-	2	0	C10orf140	21845112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.912000	0.48782	2.712000	0.92718	0.650000	0.86243	AGG		0.542	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		26	71	1	0	3.73988e-18	0.00632	5.72385e-18	26	71				
SVIL	6840	broad.mit.edu	37	10	29813491	29813491	+	Silent	SNP	C	C	A	rs113842540	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:29813491C>A	ENST00000355867.4	-	14	3248	c.2496G>T	c.(2494-2496)gcG>gcT	p.A832A	SVIL_ENST00000535393.1_5'Flank|SVIL_ENST00000375400.3_Silent_p.A406A|SVIL_ENST00000375398.2_Silent_p.A832A	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	832					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.A832A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGTAGAAATCGCTTTTGAGA	0.507																																							uc001iut.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(2494-2496)GCG>GCT		supervillin isoform 2							174.0	157.0	163.0					10																	29813491		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29813491C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2496G>T	10.37:g.29813491C>A						SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Silent_p.A406A	p.A832A	NM_021738	NP_068506	O95425	SVIL_HUMAN			14	3249	-		Breast(68;0.103)	832					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.2496G>T	CCDS7164.1																																																																																				0.507	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			48	80	1	0	4.01344e-20	0.00361	6.43004e-20	48	80				
ZNF438	220929	broad.mit.edu	37	10	31138643	31138643	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:31138643G>T	ENST00000361310.3	-	6	1020	c.691C>A	c.(691-693)Cag>Aag	p.Q231K	ZNF438_ENST00000436087.2_Missense_Mutation_p.Q231K|ZNF438_ENST00000452305.1_Missense_Mutation_p.Q221K|ZNF438_ENST00000331737.6_Missense_Mutation_p.Q221K|ZNF438_ENST00000442986.1_Missense_Mutation_p.Q231K|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000444692.2_Missense_Mutation_p.Q221K|ZNF438_ENST00000413025.1_Missense_Mutation_p.Q231K|ZNF438_ENST00000538351.2_Missense_Mutation_p.Q182K			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	231					negative regulation of transcription, DNA-templated (GO:0045892)|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)	p.Q231K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GTGAGGTCCTGCTTGGCAGGC	0.488																																							uc010qdz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(691-693)CAG>AAG		zinc finger protein 438 isoform a							141.0	140.0	140.0					10																	31138643		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138643G>T	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.691C>A	10.37:g.31138643G>T	ENSP00000354663:p.Gln231Lys					ZNF438_uc001ivn.2_Missense_Mutation_p.Q182K|ZNF438_uc010qdy.1_Missense_Mutation_p.Q221K|ZNF438_uc001ivo.3_Intron|ZNF438_uc009xlg.2_Missense_Mutation_p.Q231K|ZNF438_uc001ivp.3_Missense_Mutation_p.Q221K|ZNF438_uc010qea.1_Missense_Mutation_p.Q231K|ZNF438_uc010qeb.1_Missense_Mutation_p.Q231K|ZNF438_uc010qec.1_Intron	p.Q231K	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			7	1126	-		Prostate(175;0.0587)	231					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.691C>A	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534891	0.45073	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.10005	2.92;2.93;2.93;2.93;2.93;2.92;2.92;2.93	5.63	3.74	0.42951	.	0.457965	0.24652	N	0.036718	T	0.12390	0.0301	M	0.63428	1.95	0.09310	N	1	B;B	0.27351	0.11;0.176	B;B	0.24541	0.024;0.054	T	0.12528	-1.0544	10	0.46703	T	0.11	-7.962	10.1621	0.42858	0.0719:0.0:0.793:0.1351	.	231;221	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	K	221;231;231;231;231;221;221;182	ENSP00000333571:Q221K;ENSP00000354663:Q231K;ENSP00000406934:Q231K;ENSP00000412363:Q231K;ENSP00000387546:Q231K;ENSP00000413060:Q221K;ENSP00000410898:Q221K;ENSP00000445461:Q182K	ENSP00000333571:Q221K	Q	-	1	0	ZNF438	31178649	0.722000	0.28017	0.040000	0.18447	0.042000	0.13812	4.643000	0.61390	1.357000	0.45904	0.655000	0.94253	CAG		0.488	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		61	115	1	0	1.12612e-26	0.00361	1.9272e-26	61	115				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																							uc010qex.1		NA																	0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	60	0	0	0	0.000602	0	5	60				
OGDHL	55753	broad.mit.edu	37	10	50958893	50958893	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:50958893C>G	ENST00000374103.4	-	7	973	c.888G>C	c.(886-888)atG>atC	p.M296I	OGDHL_ENST00000432695.1_Missense_Mutation_p.M87I|OGDHL_ENST00000419399.1_Missense_Mutation_p.M239I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	296					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.M296I(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACCTGTGTGGCATCCCCAAGA	0.572																																							uc001jie.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(886-888)ATG>ATC		oxoglutarate dehydrogenase-like isoform a							91.0	73.0	79.0					10																	50958893		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50958893C>G	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.888G>C	10.37:g.50958893C>G	ENSP00000363216:p.Met296Ile					OGDHL_uc009xog.2_Missense_Mutation_p.M323I|OGDHL_uc010qgt.1_Missense_Mutation_p.M239I|OGDHL_uc010qgu.1_Missense_Mutation_p.M87I|OGDHL_uc009xoh.2_Missense_Mutation_p.M87I	p.M296I	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			7	1030	-			296					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.888G>C	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	33	5.193464	0.94960	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.15139	2.45;2.45;2.9	6.08	6.08	0.98989	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	H	0.94306	3.52	0.80722	D	1	P;P;P	0.45902	0.84;0.84;0.868	P;P;P	0.52758	0.584;0.584;0.708	T	0.61618	-0.7026	10	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	239;87;296	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	I	296;239;87	ENSP00000363216:M296I;ENSP00000401356:M239I;ENSP00000390240:M87I	ENSP00000363216:M296I	M	-	3	0	OGDHL	50628899	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.574000	0.82434	2.894000	0.99253	0.655000	0.94253	ATG		0.572	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		3	19	0	0	0	0.009096	0	3	19				
CSTF2T	23283	broad.mit.edu	37	10	53458690	53458690	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:53458690G>A	ENST00000331173.4	-	1	665	c.620C>T	c.(619-621)tCt>tTt	p.S207F	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	207					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S207F(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GACAGACACAGACTGAGATTT	0.542																																							uc001jjp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)TCT>TTT		cleavage stimulation factor, 3' pre-RNA, subunit							91.0	80.0	83.0					10																	53458690		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458690G>A	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.620C>T	10.37:g.53458690G>A	ENSP00000332444:p.Ser207Phe					PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	p.S207F	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	666	-			207					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.620C>T	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637622	0.47049	.	.	ENSG00000177613	ENST00000331173	T	0.22336	1.96	5.0	5.0	0.66597	.	0.297895	0.31963	N	0.006797	T	0.15478	0.0373	N	0.08118	0	0.80722	D	1	P	0.50819	0.939	P	0.47299	0.543	T	0.03483	-1.1032	10	0.48119	T	0.1	3.5796	14.0016	0.64437	0.0:0.0:1.0:0.0	.	207	Q9H0L4	CSTFT_HUMAN	F	207	ENSP00000332444:S207F	ENSP00000332444:S207F	S	-	2	0	CSTF2T	53128696	0.476000	0.25901	0.045000	0.18777	0.910000	0.53928	3.220000	0.51207	2.766000	0.95052	0.655000	0.94253	TCT		0.542	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		19	23	0	0	0	0.006122	0	19	23				
HERC4	26091	broad.mit.edu	37	10	69700696	69700696	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:69700696C>A	ENST00000395198.3	-	21	2775	c.2528G>T	c.(2527-2529)aGa>aTa	p.R843I	HERC4_ENST00000373700.4_Splice_Site_p.R835I|HERC4_ENST00000277817.6_Splice_Site_p.R733I|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Intron	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	843	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R843I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCCAACTAACCTCCCAACATC	0.358																																							uc001jng.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2527-2529)AGA>ATA		hect domain and RLD 4 isoform a							78.0	83.0	81.0					10																	69700696		2202	4300	6502	SO:0001630	splice_region_variant	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69700696C>A	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2528+1G>T	10.37:g.69700696C>A						HERC4_uc009xpq.2_Missense_Mutation_p.S376I|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.R835I|HERC4_uc009xpr.2_Intron|HERC4_uc001jni.3_Missense_Mutation_p.R579I	p.R843I	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN			21	2839	-			843			HECT.		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	c.2528G>T	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384448	0.95967	.	.	ENSG00000148634	ENST00000277817;ENST00000395198;ENST00000373700	T;T;T	0.59083	0.29;0.29;0.29	5.66	5.66	0.87406	HECT (4);	0.000000	0.85682	D	0.000000	T	0.82226	0.4991	H	0.94385	3.53	0.80722	D	1	D;D;D	0.59767	0.975;0.983;0.986	P;P;P	0.61328	0.807;0.82;0.887	D	0.86955	0.2088	9	.	.	.	.	19.7297	0.96177	0.0:1.0:0.0:0.0	.	693;835;843	Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;HERC4_HUMAN	I	733;843;835	ENSP00000277817:R733I;ENSP00000378624:R843I;ENSP00000362804:R835I	.	R	-	2	0	HERC4	69370702	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.762000	0.85270	2.658000	0.90341	0.650000	0.86243	AGA		0.358	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601	Missense_Mutation	40	81	1	0	2.45108e-15	0.00874	3.57686e-15	40	81				
TBATA	219793	broad.mit.edu	37	10	72539382	72539382	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:72539382G>A	ENST00000299290.1	-	5	783	c.394C>T	c.(394-396)Cca>Tca	p.P132S	TBATA_ENST00000456372.2_Missense_Mutation_p.P132S|TBATA_ENST00000545575.1_Missense_Mutation_p.P122S	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	132					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.P132S(1)									TTAGACTGTGGGTCTCCAATG	0.572																																							uc001jrj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(394-396)CCA>TCA		stromal protein associated with thymii and lymph							61.0	58.0	59.0					10																	72539382		2203	4300	6503	SO:0001583	missense	219793				cell differentiation|multicellular organismal development|spermatogenesis	cytosol		g.chr10:72539382G>A	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.394C>T	10.37:g.72539382G>A	ENSP00000299290:p.Pro132Ser					C10orf27_uc010qjm.1_Missense_Mutation_p.P132S|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Missense_Mutation_p.P132S|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Missense_Mutation_p.P121S|C10orf27_uc009xqj.1_Silent_p.T126T|C10orf27_uc010qjp.1_Missense_Mutation_p.P121S	p.P132S	NM_152710	NP_689923	Q96M53	SPATL_HUMAN			5	784	-			132					A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	c.394C>T	CCDS7308.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515164	0.64634	.	.	ENSG00000166220	ENST00000299290;ENST00000536955;ENST00000456372;ENST00000545575	T;T;T	0.22336	1.96;1.96;1.96	5.21	5.21	0.72293	.	0.076171	0.51477	D	0.000093	T	0.44746	0.1308	M	0.69248	2.105	0.35363	D	0.78836	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.998;0.998	T	0.55379	-0.8150	10	0.56958	D	0.05	-20.2135	14.6214	0.68588	0.0:0.0:1.0:0.0	.	121;121;132;132;132	B7Z8D7;B7Z8G0;B7ZMN4;B7ZMN5;Q96M53	.;.;.;.;SPATL_HUMAN	S	132;119;132;122	ENSP00000299290:P132S;ENSP00000400224:P132S;ENSP00000444940:P122S	ENSP00000299290:P132S	P	-	1	0	C10orf27	72209388	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	4.602000	0.61098	2.568000	0.86640	0.655000	0.94253	CCA		0.572	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		7	44	0	0	0	0.001984	0	7	44				
BTAF1	9044	broad.mit.edu	37	10	93776187	93776187	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:93776187A>T	ENST00000265990.6	+	33	4983	c.4675A>T	c.(4675-4677)Aaa>Taa	p.K1559*	BTAF1_ENST00000544642.1_Nonsense_Mutation_p.K387*	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1559					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K1559*(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGAAACTGAAAAACCAAAGCT	0.368																																							uc001khr.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4675-4677)AAA>TAA		BTAF1 RNA polymerase II, B-TFIID transcription							91.0	91.0	91.0					10																	93776187		2203	4300	6503	SO:0001587	stop_gained	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93776187A>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4675A>T	10.37:g.93776187A>T	ENSP00000265990:p.Lys1559*						p.K1559*	NM_003972	NP_003963	O14981	BTAF1_HUMAN			33	4773	+		Colorectal(252;0.0846)	1559					B4E0W6|O43578	Nonsense_Mutation	SNP	ENST00000265990.6	37	c.4675A>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	40	8.267665	0.98735	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.5069	15.9912	0.80206	1.0:0.0:0.0:0.0	.	.	.	.	X	1559;387;409	.	ENSP00000265990:K1559X	K	+	1	0	BTAF1	93766167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.362000	0.79507	2.172000	0.68678	0.533000	0.62120	AAA		0.368	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		13	49	0	0	0	0.001855	0	13	49				
PLCE1	51196	broad.mit.edu	37	10	96018635	96018635	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:96018635C>A	ENST00000371380.3	+	11	3868	c.3633C>A	c.(3631-3633)agC>agA	p.S1211R	PLCE1_ENST00000371375.1_Missense_Mutation_p.S903R|PLCE1_ENST00000371385.3_Missense_Mutation_p.S903R|PLCE1_ENST00000260766.3_Missense_Mutation_p.S1211R			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1211					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.S1211R(1)|p.S903R(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTCAGATAGCAACATGAGTT	0.443																																							uc001kjk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(3631-3633)AGC>AGA		phospholipase C, epsilon 1 isoform 1							197.0	187.0	190.0					10																	96018635		1918	4134	6052	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96018635C>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3633C>A	10.37:g.96018635C>A	ENSP00000360431:p.Ser1211Arg					PLCE1_uc010qnx.1_Missense_Mutation_p.S1195R|PLCE1_uc001kjm.2_Missense_Mutation_p.S903R	p.S1211R	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			12	4267	+		Colorectal(252;0.0458)	1211					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3633C>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733018	0.69189	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	-2.82	0.05787	.	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	L	0.44542	1.39	0.34088	D	0.660334	D;D;P	0.59767	0.986;0.982;0.848	P;P;P	0.56751	0.776;0.805;0.448	T	0.59182	-0.7502	10	0.72032	D	0.01	.	15.2512	0.73549	0.0:0.6512:0.0:0.3488	.	1195;903;1211	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	R	1211;1211;903;903	ENSP00000260766:S1211R;ENSP00000360431:S1211R;ENSP00000360438:S903R;ENSP00000360426:S903R	ENSP00000260766:S1211R	S	+	3	2	PLCE1	96008625	1.000000	0.71417	0.973000	0.42090	0.990000	0.78478	1.077000	0.30741	-0.694000	0.05113	0.555000	0.69702	AGC		0.443	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		14	56	1	0	0.000219431	0.00245	0.000243346	14	56				
NOLC1	9221	broad.mit.edu	37	10	103919024	103919024	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:103919024G>T	ENST00000605788.1	+	6	917	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	NOLC1_ENST00000488254.2_Missense_Mutation_p.D229Y|NOLC1_ENST00000405356.1_Missense_Mutation_p.D228Y|NOLC1_ENST00000603742.1_5'UTR	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	228	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.D228Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		cagtagcagTGATGACTCAGA	0.522																																							uc001kuo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(682-684)GAT>TAT		nucleolar and coiled-body phosphoprotein 1							115.0	117.0	116.0					10																	103919024		2203	4300	6503	SO:0001583	missense	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919024G>T	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.682G>T	10.37:g.103919024G>T	ENSP00000474710:p.Asp228Tyr					NOLC1_uc001kup.2_Missense_Mutation_p.D228Y|NOLC1_uc001kuq.2_Missense_Mutation_p.D229Y|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	p.D228Y	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	917	+		Colorectal(252;0.122)	228			11 X 12 AA approximate repeats of an acidic serine cluster.|Acidic serine cluster 4.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	c.682G>T	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990393	0.35131	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.38401	1.14	6.17	4.03	0.46877	.	0.369303	0.27092	N	0.020977	T	0.58133	0.2101	M	0.80422	2.495	0.42929	D	0.994315	D;D;D	0.71674	0.998;0.998;0.996	D;D;P	0.66847	0.947;0.947;0.887	T	0.64132	-0.6479	10	0.66056	D	0.02	-3.2327	11.2765	0.49170	0.1667:0.0:0.8333:0.0	.	229;228;228	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	Y	228	ENSP00000385410:D228Y	ENSP00000359024:D228Y	D	+	1	0	NOLC1	103909014	1.000000	0.71417	0.991000	0.47740	0.314000	0.28054	4.086000	0.57664	1.636000	0.50526	-0.136000	0.14681	GAT		0.522	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		44	59	1	0	7.53189e-24	0.007835	1.26314e-23	44	59				
NFKB2	4791	broad.mit.edu	37	10	104157797	104157797	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:104157797C>T	ENST00000369966.3	+	9	971	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	NFKB2_ENST00000189444.6_Missense_Mutation_p.R241W|NFKB2_ENST00000428099.1_Missense_Mutation_p.R241W	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	241	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R241W(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	AGGCTCTGTGCGGGGTGGAGA	0.498			T	IGH@	B-NHL																																		uc001kvb.2		NA		Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(721-723)CGG>TGG		nuclear factor of kappa light polypeptide gene							131.0	130.0	130.0					10																	104157797		1963	4171	6134	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104157797C>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.721C>T	10.37:g.104157797C>T	ENSP00000358983:p.Arg241Trp					NFKB2_uc001kva.2_Missense_Mutation_p.R241W|NFKB2_uc010qqk.1_Missense_Mutation_p.R241W|NFKB2_uc001kvd.2_Missense_Mutation_p.R241W|NFKB2_uc009xxc.2_Missense_Mutation_p.R241W	p.R241W	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	9	986	+		Colorectal(252;0.00957)	241			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.721C>T	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516239	0.64634	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	D;D;D	0.82803	-1.65;-1.65;-1.65	5.21	3.27	0.37495	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.146393	0.48767	D	0.000165	D	0.87672	0.6236	L	0.55990	1.75	0.37440	D	0.914388	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.919;0.975;0.972	D	0.89982	0.4101	10	0.66056	D	0.02	.	13.1597	0.59537	0.4165:0.5835:0.0:0.0	.	241;241;241	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	W	241	ENSP00000410256:R241W;ENSP00000358983:R241W;ENSP00000189444:R241W	ENSP00000189444:R241W	R	+	1	2	NFKB2	104147787	0.993000	0.37304	1.000000	0.80357	0.970000	0.65996	0.517000	0.22832	1.176000	0.42840	-0.314000	0.08810	CGG		0.498	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			9	133	0	0	0	0.008291	0	9	133				
SORCS3	22986	broad.mit.edu	37	10	106907476	106907476	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:106907476G>A	ENST00000369701.3	+	9	1631	c.1404G>A	c.(1402-1404)ggG>ggA	p.G468G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	468					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.G468G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACACGCGTGGGATTTACTTCA	0.448																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1402-1404)GGG>GGA		VPS10 domain receptor protein SORCS 3 precursor							248.0	198.0	215.0					10																	106907476		2203	4299	6502	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106907476G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1404G>A	10.37:g.106907476G>A							p.G468G	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	9	1631	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	468			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.1404G>A	CCDS7558.1																																																																																				0.448	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		14	59	0	0	0	0.004007	0	14	59				
SORCS1	114815	broad.mit.edu	37	10	108923816	108923816	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:108923816C>G	ENST00000263054.6	-	1	476	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	SORCS1_ENST00000344440.6_Missense_Mutation_p.E157Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	157					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.E157Q(2)		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)		AGTCTCAGCTCCTCCATCCGG	0.637																																							uc001kym.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(469-471)GAG>CAG		SORCS receptor 1 isoform a							76.0	68.0	71.0					10																	108923816		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923816C>G	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.469G>C	10.37:g.108923816C>G	ENSP00000263054:p.Glu157Gln					SORCS1_uc001kyl.2_Missense_Mutation_p.E157Q|SORCS1_uc009xxs.2_Missense_Mutation_p.E157Q|SORCS1_uc001kyn.1_Missense_Mutation_p.E157Q|SORCS1_uc001kyo.2_Missense_Mutation_p.E157Q	p.E157Q	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	477	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	157			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.469G>C	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547195	0.65311	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.16324	2.35;2.36	4.81	3.91	0.45181	.	0.182510	0.34906	N	0.003600	T	0.18130	0.0435	N	0.16656	0.425	0.34034	D	0.654121	P;D;D;P;D	0.53885	0.938;0.963;0.963;0.938;0.963	P;P;P;P;P	0.55455	0.478;0.776;0.776;0.601;0.776	T	0.21655	-1.0239	9	.	.	.	-6.418	11.721	0.51683	0.0:0.9134:0.0:0.0866	.	157;157;157;157;157	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	Q	157	ENSP00000263054:E157Q;ENSP00000345964:E157Q	.	E	-	1	0	SORCS1	108913806	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	6.892000	0.75644	1.242000	0.43836	0.655000	0.94253	GAG		0.637	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		12	39	0	0	0	0.010729	0	12	39				
SLC18A2	6571	broad.mit.edu	37	10	119017345	119017345	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:119017345G>T	ENST00000298472.5	+	10	1076	c.933G>T	c.(931-933)ctG>ctT	p.L311L	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	311					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)	p.L311L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCGCCATGCTGGAGCCAGCCC	0.542																																							uc001ldd.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(931-933)CTG>CTT		solute carrier family 18 (vesicular monoamine),	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						88.0	76.0	80.0					10																	119017345		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119017345G>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.933G>T	10.37:g.119017345G>T						SLC18A2_uc009xyy.1_Silent_p.L108L	p.L311L	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	10	964	+		Colorectal(252;0.19)	311			Helical; (Potential).		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.933G>T	CCDS7599.1																																																																																				0.542	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		13	20	1	0	0.00010058	0.001368	0.000112536	13	20				
PDZD8	118987	broad.mit.edu	37	10	119044378	119044378	+	Silent	SNP	C	C	A	rs377354271		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:119044378C>A	ENST00000334464.5	-	5	2105	c.1866G>T	c.(1864-1866)gtG>gtT	p.V622V	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	622	Pro-rich.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.V622V(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GAGGTGGCACCACCTTCTCTG	0.483																																							uc001lde.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1864-1866)GTG>GTT		PDZ domain containing 8							102.0	100.0	101.0					10																	119044378		2203	4300	6503	SO:0001819	synonymous_variant	118987				intracellular signal transduction		metal ion binding	g.chr10:119044378C>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1866G>T	10.37:g.119044378C>A							p.V622V	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2065	-		Colorectal(252;0.19)	622			Pro-rich.		Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	c.1866G>T	CCDS7600.1																																																																																				0.483	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		23	81	1	0	1.96895e-08	0.00278	2.44253e-08	23	81				
HMX2	3167	broad.mit.edu	37	10	124909093	124909093	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:124909093C>A	ENST00000339992.3	+	2	533	c.276C>A	c.(274-276)ccC>ccA	p.P92P		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	92					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P92P(1)		endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CAGGTACCCCCAAGGGCAGCG	0.642																																							uc001lhc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(274-276)CCC>CCA		H6 family homeobox 2							25.0	34.0	31.0					10																	124909093		2115	4233	6348	SO:0001819	synonymous_variant	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124909093C>A		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.276C>A	10.37:g.124909093C>A							p.P92P	NM_005519	NP_005510	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	2	533	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	92					B2RNV5	Silent	SNP	ENST00000339992.3	37	c.276C>A	CCDS31305.1																																																																																				0.642	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		15	46	1	0	6.94344e-10	0.006122	9.0145e-10	15	46				
DPYSL4	10570	broad.mit.edu	37	10	134006275	134006275	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:134006275T>A	ENST00000338492.4	+	3	406	c.242T>A	c.(241-243)cTg>cAg	p.L81Q	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Missense_Mutation_p.L4Q|DPYSL4_ENST00000368629.1_Missense_Mutation_p.L4Q	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	81					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.L81Q(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ATGCCTGTCCTGGGCATGACA	0.602																																							uc009ybb.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(241-243)CTG>CAG		dihydropyrimidinase-like 4							119.0	88.0	99.0					10																	134006275		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134006275T>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.242T>A	10.37:g.134006275T>A	ENSP00000339850:p.Leu81Gln						p.L81Q	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	3	396	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	81					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.242T>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.596126	0.28445	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.91124	-2.68;-2.79;-2.79	4.92	3.76	0.43208	Amidohydrolase 1 (1);	0.294379	0.33938	N	0.004409	T	0.81777	0.4894	N	0.11201	0.11	0.31974	N	0.606812	P	0.36647	0.563	B	0.42882	0.401	T	0.80299	-0.1441	10	0.33940	T	0.23	-14.1275	7.0316	0.24970	0.1478:0.0:0.1544:0.6977	.	81	O14531	DPYL4_HUMAN	Q	81;4;4	ENSP00000339850:L81Q;ENSP00000357618:L4Q;ENSP00000357616:L4Q	ENSP00000339850:L81Q	L	+	2	0	DPYSL4	133856265	0.997000	0.39634	0.753000	0.31225	0.957000	0.61999	2.578000	0.46051	0.872000	0.35775	0.529000	0.55759	CTG		0.602	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			17	48	0	0	0	0.008871	0	17	48				
KNDC1	85442	broad.mit.edu	37	10	134999589	134999589	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:134999589C>T	ENST00000304613.3	+	6	758	c.737C>T	c.(736-738)cCg>cTg	p.P246L	KNDC1_ENST00000368572.2_Missense_Mutation_p.P246L|KNDC1_ENST00000368571.2_Missense_Mutation_p.P181L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	246					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.P246L(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCGAAGGCCCGGAGTCTGAG	0.721																																							uc001llz.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(736-738)CCG>CTG		kinase non-catalytic C-lobe domain (KIND)							5.0	8.0	7.0					10																	134999589		2130	4177	6307	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134999589C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.737C>T	10.37:g.134999589C>T	ENSP00000304437:p.Pro246Leu					KNDC1_uc001lma.1_Missense_Mutation_p.P181L	p.P246L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	6	738	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	246					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.737C>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585962	0.46110	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.21734	2.45;2.45;1.99	3.03	-0.631	0.11526	.	1.951500	0.03487	U	0.215960	T	0.12050	0.0293	L	0.29908	0.895	0.09310	N	1	B;P	0.39181	0.059;0.663	B;B	0.26202	0.003;0.067	T	0.24048	-1.0171	10	0.54805	T	0.06	.	3.3367	0.07103	0.4461:0.4136:0.0:0.1402	.	181;246	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	L	246;246;181	ENSP00000304437:P246L;ENSP00000357561:P246L;ENSP00000357560:P181L	ENSP00000304437:P246L	P	+	2	0	KNDC1	134849579	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.065000	0.14466	0.097000	0.17492	0.538000	0.68166	CCG		0.721	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		3	10	0	0	0	0.004672	0	3	10				
FRG2B	441581	broad.mit.edu	37	10	135438789	135438789	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:135438789C>T	ENST00000425520.1	-	4	703	c.651G>A	c.(649-651)ctG>ctA	p.L217L	FRG2B_ENST00000443774.1_Silent_p.L218L	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	217						nucleus (GO:0005634)		p.L218L(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCTGGGCACACAGAGGCCCCC	0.597																																							uc010qvg.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(649-651)CTG>CTA		FSHD region gene 2 family, member B							6.0	7.0	7.0					10																	135438789		1594	3597	5191	SO:0001819	synonymous_variant	441581					nucleus		g.chr10:135438789C>T	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.651G>A	10.37:g.135438789C>T							p.L217L	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	704	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	217					Q5VSQ1	Silent	SNP	ENST00000425520.1	37	c.651G>A	CCDS44502.1																																																																																				0.597	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		5	35	0	0	0	0.008291	0	5	35				
MUC2	4583	broad.mit.edu	37	11	1104231	1104231	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:1104231C>T	ENST00000441003.2	+	49	8449	c.8422C>T	c.(8422-8424)Cgg>Tgg	p.R2808W		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5170					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.R2808W(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGCCGGGCCCGGCGCTCCCC	0.706																																							uc001lsx.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(15508-15510)CGG>TGG		mucin 2 precursor	Pranlukast(DB01411)						18.0	22.0	21.0					11																	1104231		1846	4080	5926	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1104231C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8422C>T	11.37:g.1104231C>T	ENSP00000415183:p.Arg2808Trp						p.R5170W	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	52	15535	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	5170					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.15508C>T		.	.	.	.	.	.	.	.	.	.	C	6.731	0.503670	0.12822	.	.	ENSG00000198788	ENST00000441003	T	0.14640	2.49	3.26	1.31	0.21738	.	.	.	.	.	T	0.26629	0.0651	L	0.57536	1.79	0.09310	N	1	D	0.89917	1.0	P	0.60012	0.867	T	0.07770	-1.0755	9	0.87932	D	0	.	9.5894	0.39537	0.3781:0.6219:0.0:0.0	.	2808	E7EUV1	.	W	2808	ENSP00000415183:R2808W	ENSP00000415183:R2808W	R	+	1	2	MUC2	1094231	0.005000	0.15991	0.003000	0.11579	0.016000	0.09150	-0.078000	0.11375	0.215000	0.20761	-0.323000	0.08544	CGG		0.706	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	12	0	0	0	0.009096	0	3	12				
MUC5B	727897	broad.mit.edu	37	11	1269245	1269245	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:1269245C>A	ENST00000529681.1	+	31	11193	c.11135C>A	c.(11134-11136)cCg>cAg	p.P3712Q	MUC5B_ENST00000447027.1_Missense_Mutation_p.P3715Q|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3712	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P3712Q(1)|p.P3691Q(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGCCACCCCGTCCTCCACC	0.657																																							uc009ycr.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(12718-12720)CCG>CAG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							64.0	83.0	76.0					11																	1269245		1993	4137	6130	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269245C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11135C>A	11.37:g.1269245C>A	ENSP00000436812:p.Pro3712Gln					MUC5B_uc001ltb.2_Missense_Mutation_p.P3715Q	p.P4240Q	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	50	12845	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3712			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.12719C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	5.891	0.348546	0.11126	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19105	2.17;2.31	3.27	1.16	0.20824	.	.	.	.	.	T	0.26919	0.0659	L	0.50333	1.59	0.09310	N	1	D;D	0.61697	0.99;0.99	P;P	0.52267	0.694;0.694	T	0.11421	-1.0588	9	0.87932	D	0	.	7.4481	0.27223	0.0:0.6728:0.0:0.3272	.	4240;3715	A7Y9J9;E9PBJ0	.;.	Q	3712;3715;3684;3617	ENSP00000436812:P3712Q;ENSP00000415793:P3715Q	ENSP00000343037:P3684Q	P	+	2	0	MUC5B	1225821	.	.	0.001000	0.08648	0.011000	0.07611	.	.	0.010000	0.14839	0.485000	0.47835	CCG		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		34	67	1	0	4.64027e-19	0.00361	7.29461e-19	34	67				
OR52K2	119774	broad.mit.edu	37	11	4471398	4471398	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:4471398C>A	ENST00000325719.4	+	1	874	c.829C>A	c.(829-831)Ctc>Atc	p.L277I		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L277I(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCCACATCCTCCTTGCCAA	0.498																																							uc001lyz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(829-831)CTC>ATC		olfactory receptor, family 52, subfamily K,							181.0	164.0	169.0					11																	4471398		2201	4298	6499	SO:0001583	missense	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4471398C>A	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.829C>A	11.37:g.4471398C>A	ENSP00000318956:p.Leu277Ile						p.L277I	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	829	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	277			Helical; Name=7; (Potential).		A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	c.829C>A	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	C	4.079	0.012621	0.07912	.	.	ENSG00000181963	ENST00000325719	T	0.00099	8.73	4.16	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000567	T	0.00271	0.0008	L	0.55481	1.735	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.50659	-0.8802	10	0.32370	T	0.25	.	2.4982	0.04627	0.3335:0.4052:0.1653:0.0961	.	277	Q8NGK3	O52K2_HUMAN	I	277	ENSP00000318956:L277I	ENSP00000318956:L277I	L	+	1	0	OR52K2	4427974	0.000000	0.05858	0.081000	0.20488	0.020000	0.10135	-0.370000	0.07523	0.354000	0.24105	0.586000	0.80456	CTC		0.498	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		68	83	1	0	5.41795e-27	0.00361	9.33574e-27	68	83				
OR51F2	119694	broad.mit.edu	37	11	4843368	4843368	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:4843368C>A	ENST00000322110.5	+	1	818	c.753C>A	c.(751-753)gcC>gcA	p.A251A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A251A(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCGGAAAGCCTTCAACACCT	0.502																																							uc010qyn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(751-753)GCC>GCA		olfactory receptor, family 51, subfamily F,							242.0	173.0	196.0					11																	4843368		2201	4298	6499	SO:0001819	synonymous_variant	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843368C>A	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.753C>A	11.37:g.4843368C>A							p.A251A	NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	753	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	251			Cytoplasmic (Potential).		Q6IFI1	Silent	SNP	ENST00000322110.5	37	c.753C>A	CCDS31361.1																																																																																				0.502	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		20	49	1	0	9.7654e-05	0.007413	0.000109916	20	49				
OR52A4	390053	broad.mit.edu	37	11	5142424	5142424	+	RNA	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:5142424C>A	ENST00000498233.1	-	0	974							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A129S(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAACAGATCGCTACACAGCGG	0.468																																							uc001lzz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(385-387)GCG>TCG		olfactory receptor, family 52, subfamily A,							66.0	59.0	62.0					11																	5142424		2201	4298	6499			390053							g.chr11:5142424C>A			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142424C>A						OR52A4_uc001maa.2_RNA	p.A129S	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	385	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Missense_Mutation	SNP	ENST00000498233.1	37	c.385G>T		.	.	.	.	.	.	.	.	.	.	C	4.742	0.137965	0.09083	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.78698	0.4324	.	.	.	0.21579	N	0.999635	D	0.89917	1.0	D	0.78314	0.991	D	0.84635	0.0692	6	0.87932	D	0	.	15.332	0.74219	0.0:1.0:0.0:0.0	.	129	A6NMU1	O52A4_HUMAN	S	129	.	ENSP00000369727:A129S	A	-	1	0	OR52A4	5099000	0.999000	0.42202	0.769000	0.31535	0.025000	0.11179	4.322000	0.59215	2.256000	0.74724	0.650000	0.86243	GCG		0.468	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		9	25	1	0	0.00448238	0.004482	0.00476055	9	25				
OR52A5	390054	broad.mit.edu	37	11	5153746	5153746	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:5153746C>T	ENST00000307388.1	-	1	126	c.127G>A	c.(127-129)Gga>Aga	p.G43R		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	43					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G43R(1)|p.G43*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGGAATTTCCAATCACACCA	0.403																																							uc010qyx.1		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.G43E(1)	lung(2)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(127-129)GGA>AGA		olfactory receptor, family 52, subfamily A,							70.0	71.0	71.0					11																	5153746		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153746C>T	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.127G>A	11.37:g.5153746C>T	ENSP00000303469:p.Gly43Arg						p.G43R	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	127	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	43			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000307388.1	37	c.127G>A	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727171	0.48833	.	.	ENSG00000171944	ENST00000307388	T	0.38077	1.16	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000350	T	0.74427	0.3715	H	0.97564	4.03	0.46376	D	0.999016	D	0.89917	1.0	D	0.97110	1.0	D	0.84018	0.0352	10	0.87932	D	0	.	17.4955	0.87716	0.0:1.0:0.0:0.0	.	43	Q9H2C5	O52A5_HUMAN	R	43	ENSP00000303469:G43R	ENSP00000303469:G43R	G	-	1	0	OR52A5	5110322	0.009000	0.17119	0.967000	0.41034	0.060000	0.15804	2.097000	0.41748	2.702000	0.92279	0.650000	0.86243	GGA		0.403	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		26	42	0	0	0	0.00333	0	26	42				
OR51Q1	390061	broad.mit.edu	37	11	5444219	5444219	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:5444219T>A	ENST00000300778.4	+	1	879	c.789T>A	c.(787-789)acT>acA	p.T263T	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T263T(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATCTATGACTCATCGCTTTG	0.527																																							uc010qzd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(787-789)ACT>ACA		olfactory receptor, family 51, subfamily Q,							135.0	111.0	119.0					11																	5444219		2201	4297	6498	SO:0001819	synonymous_variant	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444219T>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.789T>A	11.37:g.5444219T>A						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.T263T	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	789	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	263			Extracellular (Potential).		B2RNN1	Silent	SNP	ENST00000300778.4	37	c.789T>A	CCDS31381.1																																																																																				0.527	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		55	52	0	0	0	0.00361	0	55	52				
OR56A1	120796	broad.mit.edu	37	11	6048764	6048764	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:6048764C>A	ENST00000316650.5	-	1	207	c.171G>T	c.(169-171)caG>caT	p.Q57H		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q57H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCTCCAGCTGGATGGTGA	0.622																																							uc010qzw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(169-171)CAG>CAT		olfactory receptor, family 56, subfamily A,							66.0	65.0	65.0					11																	6048764		2201	4292	6493	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048764C>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.171G>T	11.37:g.6048764C>A	ENSP00000321246:p.Gln57His						p.Q57H	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	171	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	57			Cytoplasmic (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.171G>T	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.839275	0.00573	.	.	ENSG00000180934	ENST00000316650	T	0.02974	4.09	4.27	-1.54	0.08584	GPCR, rhodopsin-like superfamily (1);	0.650704	0.12745	N	0.442683	T	0.01156	0.0038	N	0.05487	-0.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47522	-0.9111	10	0.14656	T	0.56	.	0.3757	0.00387	0.2774:0.2249:0.273:0.2247	.	57	Q8NGH5	O56A1_HUMAN	H	57	ENSP00000321246:Q57H	ENSP00000321246:Q57H	Q	-	3	2	OR56A1	6005340	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-3.524000	0.00442	-0.384000	0.07845	0.655000	0.94253	CAG		0.622	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		28	22	1	0	3.80469e-20	0.009535	6.1086e-20	28	22				
ZNF214	7761	broad.mit.edu	37	11	7022736	7022736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:7022736C>A	ENST00000278314.4	-	3	493	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Nonsense_Mutation_p.E60*	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E60*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTTTCATATTCTAAGTATCTG	0.378																																					Ovarian(22;251 657 736 21522 46864)	Ovarian(22;251 657 736 21522 46864)	uc001mfa.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(178-180)GAA>TAA		zinc finger protein 214							77.0	85.0	82.0					11																	7022736		2201	4294	6495	SO:0001587	stop_gained	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7022736C>A	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.178G>T	11.37:g.7022736C>A	ENSP00000278314:p.Glu60*					ZNF214_uc010ray.1_Nonsense_Mutation_p.E60*|ZNF214_uc009yfh.1_Nonsense_Mutation_p.E60*	p.E60*	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	481	-			60			KRAB.		B2R8Q1	Nonsense_Mutation	SNP	ENST00000278314.4	37	c.178G>T	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606869	0.66558	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	.	.	.	4.14	1.13	0.20643	.	1.014330	0.07923	N	0.976246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	7.6861	0.28540	0.0:0.5967:0.3122:0.0911	.	.	.	.	X	60	.	ENSP00000278314:E60X	E	-	1	0	ZNF214	6979312	0.000000	0.05858	0.681000	0.30009	0.804000	0.45430	-0.134000	0.10436	0.139000	0.18822	-0.165000	0.13383	GAA		0.378	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			30	108	1	0	4.22769e-11	0.00632	5.70511e-11	30	108				
RBMXL2	27288	broad.mit.edu	37	11	7111241	7111242	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:7111241_7111242GG>TT	ENST00000306904.5	+	1	1077_1078	c.890_891GG>TT	c.(889-891)gGG>gTT	p.G297V		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	297	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G297V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAGGACGGGGGACACCGCCAT	0.658																																							uc001mfc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(889-891)GGG>GTT		testes-specific heterogenous nuclear																																				SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111241_7111242GG>TT	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		Exception_encountered	11.37:g.7111241_7111242delinsTT	ENSP00000304139:p.Gly297Val						p.G297V	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1077_1078	+			297			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	DNP	ENST00000306904.5	37	c.890_891GG>TT	CCDS7777.1																																																																																				0.658	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		12	9	0	0	0	0.004672	0	12	9				
SYT9	143425	broad.mit.edu	37	11	7335047	7335047	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:7335047G>T	ENST00000318881.6	+	3	1156	c.919G>T	c.(919-921)Gtg>Ttg	p.V307L	SYT9_ENST00000396716.2_Missense_Mutation_p.V275L	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	307	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.V307L(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCACTTCTCTGTGTACGACTT	0.468																																							uc001mfe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(919-921)GTG>TTG		synaptotagmin IX							205.0	205.0	205.0					11																	7335047		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7335047G>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.919G>T	11.37:g.7335047G>T	ENSP00000324419:p.Val307Leu					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	p.V307L	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	1156	+			307			Cytoplasmic (Potential).|C2 1.			Missense_Mutation	SNP	ENST00000318881.6	37	c.919G>T	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985785	0.74589	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.16073	2.37;2.37	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.110120	0.40469	N	0.001094	T	0.22360	0.0539	L	0.46157	1.445	0.58432	D	0.999999	B	0.30455	0.28	B	0.37480	0.251	T	0.01914	-1.1248	9	.	.	.	.	17.9326	0.89002	0.0:0.0:1.0:0.0	.	307	Q86SS6	SYT9_HUMAN	L	275;307	ENSP00000379944:V275L;ENSP00000324419:V307L	.	V	+	1	0	SYT9	7291623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.836000	0.97738	0.655000	0.94253	GTG		0.468	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		113	140	1	0	2.73796e-65	0.00361	5.34116e-65	113	140				
OR5P2	120065	broad.mit.edu	37	11	7818288	7818288	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:7818288C>A	ENST00000329434.2	-	1	232	c.202G>T	c.(202-204)Gcc>Tcc	p.A68S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A68S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATGAATAGGCCATGTCAGCA	0.438																																							uc001mfp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(202-204)GCC>TCC		olfactory receptor, family 5, subfamily P,							78.0	96.0	90.0					11																	7818288		2100	4292	6392	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818288C>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.202G>T	11.37:g.7818288C>A	ENSP00000331823:p.Ala68Ser						p.A68S	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	202	-			68			Helical; Name=2; (Potential).		Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.202G>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	0.461	-0.889284	0.02511	.	.	ENSG00000183303	ENST00000329434	T	0.01347	4.99	5.5	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.388027	0.24735	N	0.036035	T	0.00637	0.0021	N	0.00985	-1.075	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.48127	-0.9062	10	0.34782	T	0.22	-4.1652	6.4409	0.21849	0.324:0.5933:0.0:0.0827	.	68	Q8WZ92	OR5P2_HUMAN	S	68	ENSP00000331823:A68S	ENSP00000331823:A68S	A	-	1	0	OR5P2	7774864	0.000000	0.05858	0.185000	0.23176	0.062000	0.15995	0.088000	0.14979	0.871000	0.35750	0.555000	0.69702	GCC		0.438	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		53	59	1	0	2.17126e-26	0.00361	3.70738e-26	53	59				
INSC	387755	broad.mit.edu	37	11	15197461	15197461	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:15197461G>T	ENST00000379554.3	+	3	418	c.372G>T	c.(370-372)ctG>ctT	p.L124L	INSC_ENST00000424273.1_Silent_p.L77L|INSC_ENST00000530161.1_Silent_p.L77L|INSC_ENST00000379556.3_Silent_p.L77L|INSC_ENST00000525218.1_Silent_p.L77L|INSC_ENST00000528567.1_Silent_p.L77L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	124					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.L124L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCAGCTGCTGCTCAAACGGG	0.647																																							uc001mly.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(370-372)CTG>CTT		inscuteable isoform a							33.0	36.0	35.0					11																	15197461		2024	4173	6197	SO:0001819	synonymous_variant	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15197461G>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.372G>T	11.37:g.15197461G>T						INSC_uc001mlz.2_Silent_p.L77L|INSC_uc001mma.2_Silent_p.L77L|INSC_uc010rcs.1_Silent_p.L77L|INSC_uc001mmb.2_Silent_p.L77L|INSC_uc001mmc.2_Silent_p.L77L	p.L124L	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			3	418	+			124					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	c.372G>T	CCDS41621.1																																																																																				0.647	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		13	13	1	0	3.27435e-08	0.00245	4.01561e-08	13	13				
SLC6A5	9152	broad.mit.edu	37	11	20668432	20668432	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:20668432C>A	ENST00000525748.1	+	14	2295	c.2022C>A	c.(2020-2022)aaC>aaA	p.N674K	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	674					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.N674K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCCAGCCTAACATCTTCTGGA	0.428																																							uc001mqd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2020-2022)AAC>AAA		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						143.0	129.0	134.0					11																	20668432		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20668432C>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2022C>A	11.37:g.20668432C>A	ENSP00000434364:p.Asn674Lys					SLC6A5_uc009yic.2_Missense_Mutation_p.N439K	p.N674K	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			14	2295	+			674					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.2022C>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.254174	0.39896	.	.	ENSG00000165970	ENST00000525748	T	0.74209	-0.82	5.86	3.99	0.46301	.	0.273852	0.46442	D	0.000298	T	0.64114	0.2569	L	0.39020	1.185	0.50039	D	0.999848	B	0.19200	0.034	B	0.26614	0.071	T	0.56044	-0.8044	10	0.29301	T	0.29	.	10.3467	0.43909	0.0:0.7732:0.0:0.2268	.	674	Q9Y345	SC6A5_HUMAN	K	674	ENSP00000434364:N674K	ENSP00000434364:N674K	N	+	3	2	SLC6A5	20625008	1.000000	0.71417	0.983000	0.44433	0.947000	0.59692	1.859000	0.39418	0.810000	0.34279	0.655000	0.94253	AAC		0.428	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		31	38	1	0	2.47316e-13	0.003271	3.47442e-13	31	38				
NELL1	4745	broad.mit.edu	37	11	20950015	20950015	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:20950015G>T	ENST00000357134.5	+	9	1139	c.987G>T	c.(985-987)aaG>aaT	p.K329N	NELL1_ENST00000325319.5_Missense_Mutation_p.K272N|NELL1_ENST00000298925.5_Missense_Mutation_p.K357N|NELL1_ENST00000532434.1_Missense_Mutation_p.K329N	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	329	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)	p.K329N(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGTGCTGTAAGGTCTGCCGAC	0.498																																							uc001mqe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(985-987)AAG>AAT		nel-like 1 isoform 1 precursor							149.0	117.0	128.0					11																	20950015		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20950015G>T	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.987G>T	11.37:g.20950015G>T	ENSP00000349654:p.Lys329Asn					NELL1_uc001mqf.2_Missense_Mutation_p.K329N|NELL1_uc009yid.2_Missense_Mutation_p.K357N|NELL1_uc010rdo.1_Missense_Mutation_p.K272N|NELL1_uc010rdp.1_Missense_Mutation_p.K89N	p.K329N	NM_006157	NP_006148	Q92832	NELL1_HUMAN			9	1140	+			329			VWFC 1.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.987G>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790582	0.70337	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.83	0.109	0.14578	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.83308	0.5226	M	0.91090	3.175	0.45056	D	0.998074	D;D;D;D	0.89917	0.959;0.967;1.0;1.0	P;P;D;D	0.87578	0.714;0.812;0.997;0.998	T	0.80641	-0.1292	10	0.27785	T	0.31	-22.645	9.7501	0.40470	0.6239:0.0:0.3761:0.0	.	272;357;329;329	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	N	357;329;272;329	ENSP00000298925:K357N;ENSP00000349654:K329N;ENSP00000317837:K272N;ENSP00000437170:K329N	ENSP00000298925:K357N	K	+	3	2	NELL1	20906591	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.914000	0.28624	0.102000	0.17638	0.561000	0.74099	AAG		0.498	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		27	34	1	0	2.4375e-19	0.007291	3.85596e-19	27	34				
LUZP2	338645	broad.mit.edu	37	11	24927594	24927594	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:24927594G>T	ENST00000336930.6	+	6	520	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	LUZP2_ENST00000533227.1_Nonsense_Mutation_p.E66*			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	152						extracellular region (GO:0005576)		p.E152*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CATTCACGCAGAAGAGGTGAG	0.338																																							uc001mqs.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(454-456)GAA>TAA		leucine zipper protein 2 precursor							67.0	69.0	69.0					11																	24927594		2203	4299	6502	SO:0001587	stop_gained	338645					extracellular region		g.chr11:24927594G>T	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.454G>T	11.37:g.24927594G>T	ENSP00000336817:p.Glu152*					LUZP2_uc009yif.2_Nonsense_Mutation_p.E66*|LUZP2_uc009yig.2_Intron	p.E152*	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN			6	688	+			152			Potential.		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Nonsense_Mutation	SNP	ENST00000336930.6	37	c.454G>T	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	G	37	6.031438	0.97221	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	.	.	.	5.84	4.93	0.64822	.	0.133866	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-24.5214	12.8325	0.57754	0.0793:0.0:0.9207:0.0	.	.	.	.	X	152;66	.	ENSP00000336817:E152X	E	+	1	0	LUZP2	24884170	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.496000	0.60360	1.463000	0.47967	0.655000	0.94253	GAA		0.338	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		13	21	1	0	9.31168e-06	0.001855	1.07212e-05	13	21				
RAG1	5896	broad.mit.edu	37	11	36597180	36597180	+	Silent	SNP	C	C	A	rs121918572		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:36597180C>A	ENST00000299440.5	+	2	2438	c.2326C>A	c.(2326-2328)Cgg>Agg	p.R776R		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	776					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R776R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGAACTGCGGGATCGGGT	0.483									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	GRCh37	CM090373	RAG1	M	rs121918572	c.(2326-2328)CGG>AGG		recombination activating gene 1							80.0	78.0	79.0					11																	36597180		2202	4298	6500	SO:0001819	synonymous_variant	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597180C>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2326C>A	11.37:g.36597180C>A						RAG1_uc001mwt.2_RNA	p.R776R	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	2450	+	all_lung(20;0.226)	all_hematologic(20;0.107)	776					E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	c.2326C>A	CCDS7902.1																																																																																				0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		16	60	1	0	2.23348e-06	0.004007	2.60343e-06	16	60				
LRRC4C	57689	broad.mit.edu	37	11	40136851	40136851	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:40136851T>C	ENST00000278198.2	-	2	2955	c.992A>G	c.(991-993)aAc>aGc	p.N331S	LRRC4C_ENST00000528697.1_Missense_Mutation_p.N331S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N331S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.N331S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	331	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.N331S(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGAGGAGTGTTACACCGGGC	0.507																																							uc001mxa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(991-993)AAC>AGC		netrin-G1 ligand precursor							84.0	72.0	76.0					11																	40136851		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136851T>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.992A>G	11.37:g.40136851T>C	ENSP00000278198:p.Asn331Ser					LRRC4C_uc001mxc.1_Missense_Mutation_p.N327S|LRRC4C_uc001mxd.1_Missense_Mutation_p.N327S|LRRC4C_uc001mxb.1_Missense_Mutation_p.N327S	p.N331S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2956	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	331			LRRCT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.992A>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	4.563	0.104645	0.08731	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.219740	0.47455	D	0.000237	T	0.17280	0.0415	N	0.00991	-1.07	0.40582	D	0.981409	B	0.02656	0.0	B	0.01281	0.0	T	0.23261	-1.0193	10	0.11485	T	0.65	.	9.7087	0.40231	0.0:0.0768:0.0:0.9232	.	331	Q9HCJ2	LRC4C_HUMAN	S	331	ENSP00000278198:N331S;ENSP00000436976:N331S;ENSP00000437132:N331S;ENSP00000434761:N331S	ENSP00000278198:N331S	N	-	2	0	LRRC4C	40093427	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.196000	0.51020	2.206000	0.71126	0.533000	0.62120	AAC		0.507	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		17	19	0	0	0	0.004007	0	17	19				
OR4C46	119749	broad.mit.edu	37	11	51515433	51515433	+	Missense_Mutation	SNP	C	C	A	rs372979385|rs545486160	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:51515433C>A	ENST00000328188.1	+	1	152	c.152C>A	c.(151-153)cCa>cAa	p.P51Q		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P51Q(2)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ACTGCCAGCCCATCACTGGGG	0.448																																							uc010ric.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(151-153)CCA>CAA		olfactory receptor, family 4, subfamily C,							224.0	229.0	227.0					11																	51515433		2195	4296	6491	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515433C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.152C>A	11.37:g.51515433C>A	ENSP00000329056:p.Pro51Gln						p.P51Q	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	152	+			51			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.152C>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	4.830	0.154236	0.09236	.	.	ENSG00000185926	ENST00000328188	T	0.04049	3.72	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.187673	0.26052	N	0.026633	T	0.03520	0.0101	L	0.28504	0.86	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.43097	-0.9412	10	0.18710	T	0.47	.	7.6389	0.28282	0.0:0.7344:0.2656:0.0	.	51	A6NHA9	O4C46_HUMAN	Q	51	ENSP00000329056:P51Q	ENSP00000329056:P51Q	P	+	2	0	OR4C46	51372009	0.000000	0.05858	0.001000	0.08648	0.102000	0.19082	-0.956000	0.03865	1.513000	0.48852	0.134000	0.15878	CCA		0.448	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		86	107	1	0	1.55023e-36	0.00361	2.84021e-36	86	107				
OR5B12	390191	broad.mit.edu	37	11	58206722	58206722	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:58206722C>A	ENST00000302572.2	-	1	924	c.903G>T	c.(901-903)aaG>aaT	p.K301N		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K301N(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCCCTACAGTCTTTTTAAAGG	0.363																																							uc010rkh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(901-903)AAG>AAT		olfactory receptor, family 5, subfamily B,							73.0	69.0	70.0					11																	58206722		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206722C>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.903G>T	11.37:g.58206722C>A	ENSP00000306657:p.Lys301Asn						p.K301N	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	903	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	301			Cytoplasmic (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.903G>T	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049380	0.19827	.	.	ENSG00000172362	ENST00000302572	T	0.41065	1.01	4.29	1.19	0.21007	.	0.503998	0.16692	N	0.203508	T	0.34250	0.0891	M	0.65975	2.015	0.09310	N	1	B	0.15473	0.013	B	0.19946	0.027	T	0.41698	-0.9494	10	0.66056	D	0.02	-2.6973	0.7289	0.00953	0.221:0.3627:0.2175:0.1988	.	301	Q96R08	OR5BC_HUMAN	N	301	ENSP00000306657:K301N	ENSP00000306657:K301N	K	-	3	2	OR5B12	57963298	0.062000	0.20869	0.045000	0.18777	0.735000	0.41995	-0.422000	0.07043	0.492000	0.27815	0.455000	0.32223	AAG		0.363	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		22	31	1	0	1.9806e-07	0.002299	2.39389e-07	22	31				
CPSF7	79869	broad.mit.edu	37	11	61183865	61183865	+	Missense_Mutation	SNP	T	T	C	rs201389052		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:61183865T>C	ENST00000394888.4	-	6	849	c.677A>G	c.(676-678)aAt>aGt	p.N226S	CPSF7_ENST00000448745.1_Missense_Mutation_p.N217S|CPSF7_ENST00000340437.4_Missense_Mutation_p.N269S|CPSF7_ENST00000439958.3_Missense_Mutation_p.N217S	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	226	Pro-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)	p.N226S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AGGAGGACGATTGAAGTAGGG	0.592																																							uc001nrq.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(676-678)AAT>AGT		pre-mRNA cleavage factor I, 59 kDa subunit		T	SER/ASN,SER/ASN,SER/ASN	1,4403	2.1+/-5.4	0,1,2201	99.0	97.0	98.0		677,650,806	1.8	1.0	11		98	0,8598		0,0,4299	yes	missense,missense,missense	CPSF7	NM_001136040.2,NM_001142565.1,NM_024811.3	46,46,46	0,1,6500	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign	226/472,217/463,269/515	61183865	1,13001	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.chr11:61183865T>C		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.677A>G	11.37:g.61183865T>C	ENSP00000378352:p.Asn226Ser					CPSF7_uc001nro.2_Missense_Mutation_p.N217S|CPSF7_uc001nrp.2_Missense_Mutation_p.N269S|CPSF7_uc001nrr.2_Missense_Mutation_p.N217S|CPSF7_uc001nrs.1_Missense_Mutation_p.N127S	p.N226S	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN			6	811	-			226			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.677A>G	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960102	0.34565	2.27E-4	0.0	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585	.	.	.	5.66	1.75	0.24633	.	0.382752	0.29034	N	0.013351	T	0.22475	0.0542	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.15464	-1.0436	9	0.06365	T	0.9	-5.9305	9.7767	0.40623	0.0:0.2926:0.0:0.7074	.	217;226;269;217	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	S	269;226;217;217;217;217;217	.	ENSP00000345412:N269S	N	-	2	0	CPSF7	60940441	0.950000	0.32346	0.998000	0.56505	0.998000	0.95712	0.143000	0.16115	0.453000	0.26858	0.533000	0.62120	AAT		0.592	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		46	68	0	0	0	0.00361	0	46	68				
SLC22A12	116085	broad.mit.edu	37	11	64366303	64366303	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:64366303G>A	ENST00000377574.1	+	6	1725	c.978G>A	c.(976-978)gaG>gaA	p.E326E	SLC22A12_ENST00000377572.1_Silent_p.E218E|SLC22A12_ENST00000377567.2_Silent_p.E218E|SLC22A12_ENST00000336464.7_Silent_p.E292E|SLC22A12_ENST00000473690.1_Silent_p.E105E	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	326			Missing (affects urate transport). {ECO:0000269|PubMed:15327384}.		cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.E326E(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CCATGCGGGAGGAGCTGAGCA	0.662																																							uc001oam.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(976-978)GAG>GAA		urate anion exchanger 1 isoform a							36.0	34.0	34.0					11																	64366303		2201	4296	6497	SO:0001819	synonymous_variant	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64366303G>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.978G>A	11.37:g.64366303G>A						SLC22A12_uc009ypr.1_Silent_p.E351E|SLC22A12_uc001oal.1_Silent_p.E105E|SLC22A12_uc009yps.1_Silent_p.E292E|SLC22A12_uc001oan.1_Silent_p.E218E|SLC22A12_uc009ypt.2_Silent_p.E144E	p.E326E	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			6	1725	+			326		Missing (affects urate transport).			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	c.978G>A	CCDS8075.1																																																																																				0.662	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		9	44	0	0	0	0.008291	0	9	44				
NRXN2	9379	broad.mit.edu	37	11	64390268	64390268	+	Missense_Mutation	SNP	G	G	T	rs144512935		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:64390268G>T	ENST00000377551.1	-	20	4341	c.4130C>A	c.(4129-4131)aCg>aAg	p.T1377K	NRXN2_ENST00000301894.2_Missense_Mutation_p.T331K|NRXN2_ENST00000265459.6_Missense_Mutation_p.T1377K|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1370K|NRXN2_ENST00000377559.3_Missense_Mutation_p.T1307K			Q9P2S2	NRX2A_HUMAN	neurexin 2	1377	Poly-Thr.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.T331K(1)|p.T1377K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCCCCGGCGCgtggtggtagt	0.662																																							uc001oap.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(991-993)ACG>AAG		neurexin 2 isoform beta precursor							63.0	48.0	53.0					11																	64390268		2201	4295	6496	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64390268G>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.4130C>A	11.37:g.64390268G>T	ENSP00000366774:p.Thr1377Lys					NRXN2_uc001oar.2_Missense_Mutation_p.T1377K|NRXN2_uc001oas.2_Missense_Mutation_p.T1307K|NRXN2_uc001oao.2_Missense_Mutation_p.T17K|NRXN2_uc001oaq.2_Missense_Mutation_p.T1044K	p.T331K	NM_138734	NP_620063	P58401	NRX2B_HUMAN			6	1503	-			331			Poly-Thr.|Extracellular (Potential).		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.992C>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562736	0.86335	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000423049	T;T;T;T;T;T	0.62639	0.51;0.01;0.01;0.01;0.12;1.3	4.18	4.18	0.49190	.	0.122006	0.27544	U	0.018896	T	0.72771	0.3502	L	0.61218	1.895	0.80722	D	1	P;B;D;D	0.58970	0.944;0.112;0.984;0.98	P;B;P;P	0.59703	0.704;0.017;0.75;0.862	T	0.76761	-0.2840	10	0.87932	D	0	.	14.4205	0.67180	0.0:0.0:1.0:0.0	.	1307;1377;1123;331	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	K	331;1377;1307;1377;1307;1370;262	ENSP00000301894:T331K;ENSP00000366774:T1377K;ENSP00000366782:T1307K;ENSP00000265459:T1377K;ENSP00000386416:T1370K;ENSP00000407374:T262K	ENSP00000265459:T1377K	T	-	2	0	NRXN2	64146844	1.000000	0.71417	0.953000	0.39169	0.988000	0.76386	9.597000	0.98273	2.334000	0.79466	0.561000	0.74099	ACG		0.662	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		7	29	1	0	0.000157383	0.00308	0.000175051	7	29				
SPTBN2	6712	broad.mit.edu	37	11	66472300	66472300	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:66472300G>T	ENST00000533211.1	-	15	2778	c.2447C>A	c.(2446-2448)aCa>aAa	p.T816K	SPTBN2_ENST00000309996.2_Missense_Mutation_p.T816K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.T816K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	816					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.T816K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCGGCTCAGTGTGGGGGGCAG	0.716																																							uc001ojd.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2446-2448)ACA>AAA		spectrin, beta, non-erythrocytic 2							19.0	21.0	20.0					11																	66472300		2200	4293	6493	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472300G>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2447C>A	11.37:g.66472300G>T	ENSP00000432568:p.Thr816Lys						p.T816K	NM_006946	NP_008877	O15020	SPTN2_HUMAN			14	2519	-			816			Spectrin 5.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.2447C>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	5.389	0.256981	0.10239	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.49432	0.78;0.78;0.78	4.97	3.11	0.35812	.	0.061151	0.64402	D	0.000004	T	0.22704	0.0548	N	0.04746	-0.17	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17961	-1.0352	10	0.11794	T	0.64	.	10.4059	0.44256	0.1561:0.0:0.8439:0.0	.	816	O15020	SPTN2_HUMAN	K	816	ENSP00000432568:T816K;ENSP00000311489:T816K;ENSP00000433593:T816K	ENSP00000311489:T816K	T	-	2	0	SPTBN2	66228876	0.247000	0.23920	0.003000	0.11579	0.089000	0.18198	1.618000	0.36954	0.696000	0.31696	0.591000	0.81541	ACA		0.716	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		13	19	1	0	0.00010058	0.001368	0.000112536	13	19				
DHCR7	1717	broad.mit.edu	37	11	71146589	71146589	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:71146589C>A	ENST00000355527.3	-	9	1536	c.1260G>T	c.(1258-1260)ctG>ctT	p.L420L	DHCR7_ENST00000407721.2_Silent_p.L420L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	420					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.L420L(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CGCCACAGGCCAGGCAGTAGG	0.672									Smith-Lemli-Opitz syndrome																														uc001oqk.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|liver(1)	2						c.(1258-1260)CTG>CTT		7-dehydrocholesterol reductase	NADH(DB00157)						24.0	26.0	25.0					11																	71146589		2199	4288	6487	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz_syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146589C>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1260G>T	11.37:g.71146589C>A						DHCR7_uc001oql.2_Silent_p.L420L	p.L420L	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN			9	1510	-			420			Helical; (Potential).		B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.1260G>T	CCDS8200.1																																																																																				0.672	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		10	21	1	0	0.000673444	0.008291	0.000732808	10	21				
KRTAP5-11	440051	broad.mit.edu	37	11	71293805	71293805	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:71293805C>A	ENST00000398530.1	-	1	116	c.79G>T	c.(79-81)Ggc>Tgc	p.G27C	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	27						keratin filament (GO:0045095)		p.G27C(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCCACAGCCAGAGCCACAG	0.642																																							uc001oqu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(79-81)GGC>TGC		keratin associated protein 5-11							39.0	53.0	49.0					11																	71293805		2196	4281	6477	SO:0001583	missense	440051					keratin filament		g.chr11:71293805C>A	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.79G>T	11.37:g.71293805C>A	ENSP00000381541:p.Gly27Cys						p.G27C	NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN			1	117	-			27						Missense_Mutation	SNP	ENST00000398530.1	37	c.79G>T	CCDS41685.1	.	.	.	.	.	.	.	.	.	.	.	5.454	0.268916	0.10349	.	.	ENSG00000204571	ENST00000376535;ENST00000398530	T	0.01059	5.39	2.07	-2.83	0.05769	.	.	.	.	.	T	0.01523	0.0049	M	0.70595	2.14	0.21256	N	0.999743	B	0.15719	0.014	B	0.08055	0.003	T	0.41305	-0.9516	9	0.42905	T	0.14	.	3.2912	0.06949	0.2024:0.4338:0.0:0.3638	.	27	Q6L8G4	KR511_HUMAN	C	27	ENSP00000381541:G27C	ENSP00000365718:G27C	G	-	1	0	KRTAP5-11	70971453	0.861000	0.29849	0.521000	0.27850	0.628000	0.37860	-0.636000	0.05465	-0.659000	0.05359	-0.513000	0.04457	GGC		0.642	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		33	43	1	0	2.46105e-21	0.010818	4.0199e-21	33	43				
USP35	57558	broad.mit.edu	37	11	77916913	77916913	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:77916913G>A	ENST00000529308.1	+	7	1484	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.R139H	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	408					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.R408H(1)|p.R164H(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AATGAGGACCGCATCAAGCAG	0.582																																							uc009yva.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)	3						c.(1222-1224)CGC>CAC		ubiquitin specific protease 35							95.0	99.0	98.0					11																	77916913		1957	4149	6106	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77916913G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1223G>A	11.37:g.77916913G>A	ENSP00000431876:p.Arg408His					USP35_uc001oze.2_Missense_Mutation_p.R164H|USP35_uc001ozc.2_5'UTR|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Missense_Mutation_p.A18T|USP35_uc001ozf.2_Missense_Mutation_p.R139H	p.R408H	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		7	1469	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		408						Missense_Mutation	SNP	ENST00000529308.1	37	c.1223G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207016	0.58343	.	.	ENSG00000118369	ENST00000528910;ENST00000529308;ENST00000526425	T;T;T	0.66638	2.52;-0.22;3.38	4.55	3.64	0.41730	.	0.121253	0.37483	N	0.002079	T	0.54935	0.1889	L	0.36672	1.1	0.80722	D	1	B	0.22541	0.071	B	0.14578	0.011	T	0.53387	-0.8446	10	0.45353	T	0.12	-23.8808	12.2913	0.54820	0.0819:0.0:0.9181:0.0	.	408	Q9P2H5	UBP35_HUMAN	H	164;408;139	ENSP00000436001:R164H;ENSP00000431876:R408H;ENSP00000434942:R139H	ENSP00000434942:R139H	R	+	2	0	USP35	77594561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.599000	0.61076	1.133000	0.42147	0.591000	0.81541	CGC		0.582	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		4	133	0	0	0	0.009096	0	4	133				
RAB30	27314	broad.mit.edu	37	11	82698724	82698724	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:82698724T>C	ENST00000533486.1	-	5	550	c.266A>G	c.(265-267)tAt>tGt	p.Y89C	RAB30_ENST00000525117.1_Missense_Mutation_p.Y61C|RAB30_ENST00000534141.1_Missense_Mutation_p.Y89C|RAB30_ENST00000260056.2_Missense_Mutation_p.Y89C|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000532548.1_Missense_Mutation_p.Y89C|RAB30_ENST00000527633.1_Missense_Mutation_p.Y89C	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	89					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Y89C(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GGTAATGTCATAGGTGAGGAT	0.493																																							uc001ozu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(265-267)TAT>TGT		RAB30, member RAS oncogene family							198.0	175.0	183.0					11																	82698724		2203	4300	6503	SO:0001583	missense	27314				protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	g.chr11:82698724T>C	U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"""RAB, member RAS oncogene"""	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.266A>G	11.37:g.82698724T>C	ENSP00000435189:p.Tyr89Cys					RAB30_uc009yve.2_Missense_Mutation_p.Y87C|RAB30_uc010rst.1_Missense_Mutation_p.Y87C|RAB30_uc001ozv.2_Missense_Mutation_p.Y87C|RAB30_uc009yvg.1_Missense_Mutation_p.Y59C	p.Y89C	NM_014488	NP_055303	Q15771	RAB30_HUMAN			5	527	-			89					Q6FGK1|Q6MZH2|Q96CI8	Missense_Mutation	SNP	ENST00000533486.1	37	c.266A>G	CCDS8264.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.756634	0.89843	.	.	ENSG00000137502	ENST00000533486;ENST00000534141;ENST00000260056;ENST00000533014;ENST00000527633;ENST00000531021;ENST00000534301;ENST00000525117;ENST00000532548;ENST00000524635;ENST00000526205;ENST00000534103	D;D;D;D;D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	6.04	6.04	0.98038	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92786	0.7706	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.984;0.996;0.998	D	0.93841	0.7136	9	.	.	.	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	61;89;89	E9PLM3;Q6MZH2;Q15771	.;.;RAB30_HUMAN	C	89;89;89;53;89;89;89;61;89;43;89;89	ENSP00000435189:Y89C;ENSP00000434974:Y89C;ENSP00000260056:Y89C;ENSP00000433832:Y53C;ENSP00000435089:Y89C;ENSP00000434953:Y89C;ENSP00000432193:Y89C;ENSP00000433243:Y61C;ENSP00000437235:Y89C;ENSP00000436587:Y43C;ENSP00000432336:Y89C;ENSP00000435542:Y89C	.	Y	-	2	0	RAB30	82376372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	TAT		0.493	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488		34	47	0	0	0	0.012213	0	34	47				
FAT3	120114	broad.mit.edu	37	11	92086050	92086050	+	Missense_Mutation	SNP	C	C	A	rs538781318		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:92086050C>A	ENST00000298047.6	+	1	789	c.772C>A	c.(772-774)Cgc>Agc	p.R258S	FAT3_ENST00000409404.2_Missense_Mutation_p.R258S|FAT3_ENST00000541502.1_Missense_Mutation_p.R258S|FAT3_ENST00000525166.1_Missense_Mutation_p.R108S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	258	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R258C(2)|p.R258S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCACATTGAGCGCATAAATGA	0.428										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	4	Substitution - Missense(4)		cervix(2)|lung(2)	ovary(4)|pancreas(1)	5						c.(772-774)CGC>AGC		FAT tumor suppressor homolog 3							186.0	178.0	181.0					11																	92086050		2000	4175	6175	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086050C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.772C>A	11.37:g.92086050C>A	ENSP00000298047:p.Arg258Ser	TCGA Ovarian(4;0.039)					p.R258S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	789	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	258			Cadherin 2.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.772C>A		.	.	.	.	.	.	.	.	.	.	C	17.90	3.501477	0.64298	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	4.83	4.83	0.62350	.	.	.	.	.	T	0.66703	0.2816	L	0.35723	1.085	0.49299	D	0.99977	D	0.89917	1.0	D	0.91635	0.999	T	0.61950	-0.6957	9	0.23302	T	0.38	.	17.2694	0.87097	0.0:1.0:0.0:0.0	.	258	Q8TDW7-3	.	S	258;258;258;108	ENSP00000298047:R258S;ENSP00000387040:R258S;ENSP00000443786:R258S;ENSP00000432586:R108S	ENSP00000298047:R258S	R	+	1	0	FAT3	91725698	1.000000	0.71417	0.953000	0.39169	0.741000	0.42261	7.752000	0.85141	2.359000	0.80004	0.557000	0.71058	CGC		0.428	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		65	78	1	0	1.50372e-20	0.00361	2.42463e-20	65	78				
ATM	472	broad.mit.edu	37	11	108183154	108183154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:108183154G>T	ENST00000452508.2	+	41	6124	c.5935G>T	c.(5935-5937)Gaa>Taa	p.E1979*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Nonsense_Mutation_p.E1979*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1979	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E1979*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGCATTTGAAGAAGGAAGCCA	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Nonsense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(5935-5937)GAA>TAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							96.0	108.0	104.0					11																	108183154		2201	4295	6496	SO:0001587	stop_gained	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108183154G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5935G>T	11.37:g.108183154G>T	ENSP00000388058:p.Glu1979*	TSP Lung(14;0.12)				ATM_uc009yxr.1_Nonsense_Mutation_p.E1979*|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.E631*|ATM_uc001pkg.1_Nonsense_Mutation_p.E336*|ATM_uc009yxt.1_Nonsense_Mutation_p.E93*	p.E1979*	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	40	6320	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1979			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	c.5935G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	49	15.453180	0.99834	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.33	5.33	0.75918	.	0.296336	0.41396	D	0.000886	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	19.3779	0.94518	0.0:0.0:1.0:0.0	.	.	.	.	X	1979	.	ENSP00000278616:E1979X	E	+	1	0	ATM	107688364	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.555000	0.90693	2.654000	0.90174	0.655000	0.94253	GAA		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		17	80	1	0	2.54575e-18	0.010504	3.91214e-18	17	80				
ATM	472	broad.mit.edu	37	11	108205768	108205768	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:108205768G>A	ENST00000452508.2	+	56	8272	c.8083G>A	c.(8083-8085)Ggt>Agt	p.G2695S	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2695S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2695			G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia). {ECO:0000269|PubMed:10023947, ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.G2695S(4)|p.G2695C(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTTAGCAGGAGGTGTAAATTT	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		6	Substitution - Missense(6)	p.G2695A(2)	lung(4)|prostate(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8083-8085)GGT>AGT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							101.0	100.0	100.0					11																	108205768		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108205768G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8083G>A	11.37:g.108205768G>A	ENSP00000388058:p.Gly2695Ser	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.G2695S|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.G1347S	p.G2695S	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	55	8468	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2695		G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8083G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	36	5.908021	0.97093	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.94232	-3.38;-3.38	5.67	5.67	0.87782	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	L	0.31065	0.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94347	0.7576	10	0.44086	T	0.13	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	2695	Q13315	ATM_HUMAN	S	2695	ENSP00000278616:G2695S;ENSP00000388058:G2695S	ENSP00000278616:G2695S	G	+	1	0	ATM	107710978	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	9.107000	0.94261	2.680000	0.91292	0.655000	0.94253	GGT		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		28	36	0	0	0	0.005443	0	28	36				
ARHGAP20	57569	broad.mit.edu	37	11	110461533	110461533	+	Splice_Site	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:110461533C>G	ENST00000260283.4	-	12	1428	c.1144G>C	c.(1144-1146)Gat>Cat	p.D382H	ARHGAP20_ENST00000524756.1_Splice_Site_p.D359H|ARHGAP20_ENST00000529591.1_5'Flank|ARHGAP20_ENST00000528829.1_Splice_Site_p.D346H|ARHGAP20_ENST00000527598.1_Splice_Site_p.D346H|ARHGAP20_ENST00000533353.1_Splice_Site_p.D356H|ARHGAP20_ENST00000357139.3_Splice_Site_p.D356H	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	382	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D382H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAAAGCATATCCTATGGGGAA	0.423																																							uc001pkz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(2)	5						c.(1144-1146)GAT>CAT		Rho GTPase activating protein 20							59.0	55.0	57.0					11																	110461533		2201	4298	6499	SO:0001630	splice_region_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110461533C>G	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1144-1G>C	11.37:g.110461533C>G						ARHGAP20_uc001pky.1_Missense_Mutation_p.D359H|ARHGAP20_uc009yyb.1_Missense_Mutation_p.D346H|ARHGAP20_uc001pla.1_Missense_Mutation_p.D346H|ARHGAP20_uc001plb.2_5'Flank	p.D382H	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	12	1429	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	382			Rho-GAP.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.1144G>C	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	.	17.13	3.312025	0.60414	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19	6.05	5.14	0.70334	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.080594	0.85682	D	0.000000	T	0.31979	0.0814	M	0.81497	2.545	0.45452	D	0.998428	B;B	0.26445	0.041;0.149	B;B	0.29353	0.101;0.082	T	0.15925	-1.0420	10	0.87932	D	0	.	15.082	0.72122	0.0:0.9324:0.0:0.0676	.	382;359	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	H	382;356;359;346;356;346	ENSP00000260283:D382H;ENSP00000349660:D356H;ENSP00000432076:D359H;ENSP00000436319:D346H;ENSP00000436522:D356H;ENSP00000431399:D346H	ENSP00000260283:D382H	D	-	1	0	ARHGAP20	109966743	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.073000	0.64395	1.559000	0.49555	0.650000	0.86243	GAT		0.423	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	Missense_Mutation	21	24	0	0	0	0.002299	0	21	24				
TTC12	54970	broad.mit.edu	37	11	113235676	113235676	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:113235676G>C	ENST00000529221.1	+	21	2041	c.1936G>C	c.(1936-1938)Gac>Cac	p.D646H	TTC12_ENST00000483239.2_Missense_Mutation_p.D652H|TTC12_ENST00000393020.1_Intron|TTC12_ENST00000314756.3_Missense_Mutation_p.D646H	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	646								p.D646H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GCTAAAGACGGACCTTTTGCA	0.577																																							uc001pnu.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1936-1938)GAC>CAC		tetratricopeptide repeat domain 12							134.0	94.0	107.0					11																	113235676		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113235676G>C	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1936G>C	11.37:g.113235676G>C	ENSP00000433757:p.Asp646His					TTC12_uc001pnv.2_Missense_Mutation_p.D652H|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.D496H	p.D646H	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	21	2041	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	646					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1936G>C	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206422	0.79127	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000483239	T;T;T	0.52526	0.66;0.66;0.66	5.78	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.901355	0.09853	N	0.747303	T	0.66954	0.2842	M	0.80847	2.515	0.43444	D	0.99562	D;D	0.71674	0.998;0.998	P;P	0.60682	0.878;0.878	T	0.63839	-0.6546	10	0.87932	D	0	-18.1742	9.7945	0.40726	0.198:0.0:0.802:0.0	.	646;646	A8K8G6;Q9H892	.;TTC12_HUMAN	H	646;646;652	ENSP00000433757:D646H;ENSP00000315160:D646H;ENSP00000419652:D652H	ENSP00000315160:D646H	D	+	1	0	TTC12	112740886	1.000000	0.71417	0.056000	0.19401	0.279000	0.26890	3.491000	0.53252	1.458000	0.47871	0.650000	0.86243	GAC		0.577	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		16	44	0	0	0	0.003163	0	16	44				
TRIM29	23650	broad.mit.edu	37	11	119996462	119996462	+	Missense_Mutation	SNP	C	C	A	rs373220023		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:119996462C>A	ENST00000341846.5	-	4	1691	c.1270G>T	c.(1270-1272)Gtt>Ttt	p.V424F	TRIM29_ENST00000541857.1_Missense_Mutation_p.V157F|TRIM29_ENST00000524816.3_5'Flank|TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000529044.1_Missense_Mutation_p.V163F	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	424					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V424F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATCTTCTCAACGTGGCGCATG	0.592																																							uc001pwz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(1270-1272)GTT>TTT		tripartite motif protein TRIM29		C	PHE/VAL	0,4398		0,0,2199	96.0	86.0	89.0		1270	4.5	0.2	11		89	1,8589	1.2+/-3.3	0,1,4294	no	missense	TRIM29	NM_012101.3	50	0,1,6493	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	424/589	119996462	1,12987	2199	4295	6494	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119996462C>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1270G>T	11.37:g.119996462C>A	ENSP00000343129:p.Val424Phe					TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.V163F|TRIM29_uc010rzj.1_Missense_Mutation_p.V157F|TRIM29_uc001pxa.2_RNA	p.V424F	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	4	1394	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	424					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.1270G>T	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284760	0.80803	0.0	1.16E-4	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000529044	T	0.45668	0.89	4.54	4.54	0.55810	.	0.097005	0.43416	D	0.000573	T	0.48589	0.1508	N	0.19112	0.55	0.53005	D	0.999968	D;D;D	0.89917	0.958;1.0;0.986	P;D;P	0.87578	0.712;0.998;0.769	T	0.42344	-0.9457	9	.	.	.	.	16.0374	0.80640	0.0:1.0:0.0:0.0	.	157;163;424	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	F	424;157;163	ENSP00000343129:V424F	.	V	-	1	0	TRIM29	119501672	0.985000	0.35326	0.208000	0.23602	0.991000	0.79684	4.556000	0.60775	2.518000	0.84900	0.655000	0.94253	GTT		0.592	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		17	28	1	0	2.48551e-13	0.00499	3.47878e-13	17	28				
ROBO4	54538	broad.mit.edu	37	11	124756669	124756669	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:124756669C>A	ENST00000306534.3	-	16	2970	c.2485G>T	c.(2485-2487)Ggg>Tgg	p.G829W	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.G684W	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	829					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G829W(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTGATGTACCCATAGGTGGTG	0.617																																							uc001qbg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2485-2487)GGG>TGG		roundabout homolog 4, magic roundabout							75.0	77.0	76.0					11																	124756669		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756669C>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2485G>T	11.37:g.124756669C>A	ENSP00000304945:p.Gly829Trp					ROBO4_uc010sas.1_Missense_Mutation_p.G684W|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Missense_Mutation_p.G387W	p.G829W	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	16	2625	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	829					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2485G>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	c	18.62	3.662441	0.67700	.	.	ENSG00000154133	ENST00000306534;ENST00000533054	T;T	0.80480	-1.38;-0.79	5.17	5.17	0.71159	.	0.000000	0.36815	N	0.002395	D	0.90075	0.6900	M	0.77820	2.39	0.35266	D	0.78005	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93653	0.6975	10	0.87932	D	0	.	18.6884	0.91574	0.0:1.0:0.0:0.0	.	829;829	Q8WZ75-2;Q8WZ75	.;ROBO4_HUMAN	W	829;684	ENSP00000304945:G829W;ENSP00000437129:G684W	ENSP00000304945:G829W	G	-	1	0	ROBO4	124261879	0.998000	0.40836	0.946000	0.38457	0.820000	0.46376	5.006000	0.63978	2.395000	0.81488	0.651000	0.88453	GGG		0.617	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		13	52	1	0	4.7546e-09	0.004007	6.00708e-09	13	52				
PKNOX2	63876	broad.mit.edu	37	11	125255501	125255501	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:125255501C>A	ENST00000298282.9	+	6	553	c.282C>A	c.(280-282)acC>acA	p.T94T	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.T30T	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	94					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.T94T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AACAGGCCACCCAGGGCTCTG	0.557																																							uc001qbu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(280-282)ACC>ACA		PBX/knotted 1 homeobox 2							121.0	123.0	122.0					11																	125255501		2088	4229	6317	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125255501C>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.282C>A	11.37:g.125255501C>A						PKNOX2_uc010saz.1_Silent_p.T65T|PKNOX2_uc010sba.1_Silent_p.T65T|PKNOX2_uc010sbb.1_Silent_p.T30T	p.T94T	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	6	596	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	94					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.282C>A	CCDS41730.1																																																																																				0.557	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			10	50	1	0	0.00136819	0.001368	0.00146969	10	50				
ADIPOR2	79602	broad.mit.edu	37	12	1895226	1895226	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:1895226G>T	ENST00000357103.4	+	8	1400	c.1149G>T	c.(1147-1149)gaG>gaT	p.E383D		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	383					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)	p.E383D(1)		endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GCAGTGAAGAGGATGCACTGT	0.537																																							uc001qjm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1147-1149)GAG>GAT		adiponectin receptor 2							98.0	93.0	95.0					12																	1895226		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1895226G>T	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.1149G>T	12.37:g.1895226G>T	ENSP00000349616:p.Glu383Asp					ADIPOR2_uc001qjn.2_Missense_Mutation_p.E383D	p.E383D	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		8	1346	+	Ovarian(42;0.107)		383			Extracellular (Potential).		Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.1149G>T	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	G	5.898	0.349785	0.11182	.	.	ENSG00000006831	ENST00000357103	T	0.17854	2.25	5.4	5.4	0.78164	.	0.148834	0.64402	D	0.000011	T	0.06872	0.0175	N	0.01800	-0.715	0.40133	D	0.97674	B	0.02656	0.0	B	0.06405	0.002	T	0.20042	-1.0287	10	0.02654	T	1	-9.3931	18.1591	0.89703	0.0:0.0:1.0:0.0	.	383	Q86V24	ADR2_HUMAN	D	383	ENSP00000349616:E383D	ENSP00000349616:E383D	E	+	3	2	ADIPOR2	1765487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.755000	0.38379	2.526000	0.85167	0.655000	0.94253	GAG		0.537	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		27	65	1	0	1.42536e-11	0.004656	1.93386e-11	27	65				
CACNA2D4	93589	broad.mit.edu	37	12	2016649	2016649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:2016649C>T	ENST00000382722.5	-	6	1100	c.738G>A	c.(736-738)tgG>tgA	p.W246*	CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.W246*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.W246*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.W182*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.W246*|CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.W182*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	246					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.W246*(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAAAATATTGCCAGGTCAACG	0.458																																					Colon(2;101 179 21030 23310 28141)	Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(736-738)TGG>TGA		voltage-gated calcium channel alpha(2)delta-4							69.0	69.0	69.0					12																	2016649		1958	4152	6110	SO:0001587	stop_gained	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2016649C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.738G>A	12.37:g.2016649C>T	ENSP00000372169:p.Trp246*					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Nonsense_Mutation_p.W246*	p.W246*	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	6	969	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	246			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Nonsense_Mutation	SNP	ENST00000382722.5	37	c.738G>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	40	8.201005	0.98704	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5983	0.91236	0.0:1.0:0.0:0.0	.	.	.	.	X	182;246;246	.	ENSP00000280663:W246X	W	-	3	0	CACNA2D4	1886910	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.519000	0.81809	2.498000	0.84270	0.561000	0.74099	TGG		0.458	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			14	11	0	0	0	0.001855	0	14	11				
FGF23	8074	broad.mit.edu	37	12	4479725	4479725	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:4479725G>T	ENST00000237837.1	-	3	685	c.540C>A	c.(538-540)agC>agA	p.S180R		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	180		Cleavage; by proprotein convertases.			cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.S180R(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTCCTCGGCGCTCCGGGTGT	0.687																																							uc001qmq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(538-540)AGC>AGA		fibroblast growth factor 23 precursor							27.0	32.0	30.0					12																	4479725		2203	4299	6502	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479725G>T	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.540C>A	12.37:g.4479725G>T	ENSP00000237837:p.Ser180Arg						p.S180R	NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	686	-			180				Cleavage; by proprotein convertases.	Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.540C>A	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.587882	0.28268	.	.	ENSG00000118972	ENST00000237837	D	0.89415	-2.51	4.94	1.88	0.25563	.	0.275088	0.45606	D	0.000359	D	0.86847	0.6031	L	0.34521	1.04	0.47778	D	0.999518	D	0.71674	0.998	D	0.65010	0.931	T	0.81178	-0.1051	10	0.20519	T	0.43	-4.0905	5.2513	0.15522	0.3004:0.1598:0.5398:0.0	.	180	Q9GZV9	FGF23_HUMAN	R	180	ENSP00000237837:S180R	ENSP00000237837:S180R	S	-	3	2	FGF23	4349986	1.000000	0.71417	0.953000	0.39169	0.018000	0.09664	0.826000	0.27407	0.588000	0.29660	-0.326000	0.08463	AGC		0.687	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			11	30	1	0	4.93089e-13	0.00245	6.87585e-13	11	30				
CHD4	1108	broad.mit.edu	37	12	6702648	6702648	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:6702648G>C	ENST00000357008.2	-	16	2611	c.2448C>G	c.(2446-2448)atC>atG	p.I816M	CHD4_ENST00000544040.1_Missense_Mutation_p.I809M|CHD4_ENST00000544484.1_Missense_Mutation_p.I813M|CHD4_ENST00000309577.6_Missense_Mutation_p.I816M	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	816	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.I816M(2)		central_nervous_system(2)	2						CATTCTCTCGGATGATGGCAC	0.517																																					Colon(32;586 792 4568 16848 45314)	Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(2446-2448)ATC>ATG		chromodomain helicase DNA binding protein 4							192.0	160.0	170.0					12																	6702648		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6702648G>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2448C>G	12.37:g.6702648G>C	ENSP00000349508:p.Ile816Met					CHD4_uc001qpn.2_Missense_Mutation_p.I809M|CHD4_uc001qpp.2_Missense_Mutation_p.I813M	p.I816M	NM_001273	NP_001264	Q14839	CHD4_HUMAN			16	2612	-			816			Helicase ATP-binding.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2448C>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364706	0.61513	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	4.9	4.9	0.64082	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.95114	0.8417	L	0.52823	1.66	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.997;0.999;0.994	D	0.94974	0.8119	10	0.87932	D	0	1.0514	11.7053	0.51593	0.0802:0.0:0.9198:0.0	.	816;816;809	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	M	813;809;816;816;790	ENSP00000440392:I813M;ENSP00000440542:I809M;ENSP00000312419:I816M;ENSP00000349508:I816M	ENSP00000312419:I816M	I	-	3	3	CHD4	6572909	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.161000	0.42358	2.550000	0.86006	0.591000	0.81541	ATC		0.517	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		43	70	0	0	0	0.009718	0	43	70				
KLRF1	51348	broad.mit.edu	37	12	9997030	9997030	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:9997030G>T	ENST00000279544.3	+	6	668	c.604G>T	c.(604-606)Gga>Tga	p.G202*	KLRF1_ENST00000537723.1_3'UTR|KLRF1_ENST00000354855.3_3'UTR|KLRF1_ENST00000324214.4_Nonsense_Mutation_p.G152*	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	202	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)	p.G202*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						CTTCATAAAGGGACCAGCTAA	0.348																																							uc010sgw.1		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(601-603)GGA>TGA		killer cell lectin-like receptor subfamily F,							67.0	65.0	65.0					12																	9997030		1811	4063	5874	SO:0001587	stop_gained	51348				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding	g.chr12:9997030G>T	AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.604G>T	12.37:g.9997030G>T	ENSP00000279544:p.Gly202*					KLRF1_uc009zgw.2_Nonsense_Mutation_p.G152*|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_3'UTR|KLRF1_uc009zha.2_RNA	p.G201*	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN			7	665	+			202			C-type lectin.|Extracellular (Potential).		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Nonsense_Mutation	SNP	ENST00000279544.3	37	c.601G>T	CCDS41750.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500104	0.44455	.	.	ENSG00000150045	ENST00000324214;ENST00000279544	.	.	.	2.51	2.51	0.30379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6646	0.34112	0.0:0.0:1.0:0.0	.	.	.	.	X	152;202	.	.	G	+	1	0	KLRF1	9888297	0.995000	0.38212	0.995000	0.50966	0.446000	0.32137	2.872000	0.48467	1.731000	0.51592	0.557000	0.71058	GGA		0.348	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523		8	26	1	0	5.4927e-09	0.004482	6.9164e-09	8	26				
GRIN2B	2904	broad.mit.edu	37	12	13724849	13724849	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:13724849G>T	ENST00000609686.1	-	10	2269	c.2060C>A	c.(2059-2061)cCc>cAc	p.P687H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	687					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.P687H(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTGCCGTTGGGCACGGTCCC	0.502																																							uc001rbt.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2059-2061)CCC>CAC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						146.0	118.0	127.0					12																	13724849		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13724849G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2060C>A	12.37:g.13724849G>T	ENSP00000477455:p.Pro687His						p.P687H	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			10	2239	-			687			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2060C>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141922	0.94560	.	.	ENSG00000150086	ENST00000279593	T	0.27256	1.68	5.73	5.73	0.89815	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48937	-0.8990	10	0.87932	D	0	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	687	Q13224	NMDE2_HUMAN	H	687	ENSP00000279593:P687H	ENSP00000279593:P687H	P	-	2	0	GRIN2B	13616116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.861000	0.98227	0.655000	0.94253	CCC		0.502	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			13	36	1	0	1.61879e-10	0.001368	2.14227e-10	13	36				
SLCO1B3	28234	broad.mit.edu	37	12	21032388	21032388	+	Missense_Mutation	SNP	C	C	G	rs138702607		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:21032388C>G	ENST00000381545.3	+	11	1373	c.1154C>G	c.(1153-1155)aCg>aGg	p.T385R	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T385R|LST3_ENST00000540229.1_Missense_Mutation_p.T385R|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T385R|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	385					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.T385R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ACCATTCCTACGGTTGCAACT	0.274																																							uc001rek.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1153-1155)ACG>AGG		solute carrier organic anion transporter family,							51.0	55.0	53.0					12																	21032388		2203	4299	6502	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21032388C>G		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1154C>G	12.37:g.21032388C>G	ENSP00000370956:p.Thr385Arg					SLCO1B3_uc001rel.2_Missense_Mutation_p.T385R|SLCO1B3_uc010sil.1_Missense_Mutation_p.T385R|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.T210R	p.T385R	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			10	1280	+	Esophageal squamous(101;0.149)		385			Helical; Name=8; (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1154C>G	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	10.28	1.306792	0.23821	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	3.49	0.261	0.15592	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.329589	0.31134	N	0.008181	T	0.45975	0.1369	M	0.61703	1.905	0.09310	N	1	D;P;P	0.61080	0.989;0.684;0.684	P;P;P	0.53401	0.725;0.703;0.703	T	0.36261	-0.9755	10	0.54805	T	0.06	.	7.8909	0.29677	0.0:0.6541:0.0:0.3459	.	385;385;385	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	R	385;385;385;209;385	ENSP00000261196:T385R;ENSP00000370956:T385R;ENSP00000451758:T385R;ENSP00000443225:T209R;ENSP00000441269:T385R	ENSP00000441269:T385R	T	+	2	0	SLCO1B3;RP11-545J16.1	20923655	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.539000	0.23175	0.182000	0.20032	-0.680000	0.03767	ACG		0.274	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		9	43	0	0	0	0.006214	0	9	43				
SLCO1B7	338821	broad.mit.edu	37	12	21229503	21229503	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:21229503G>T	ENST00000421593.2	+	12	1724	c.1724G>T	c.(1723-1725)gGa>gTa	p.G575V	SLCO1B3_ENST00000553473.1_Splice_Site_p.G683V|LST3_ENST00000540229.1_Splice_Site_p.G683V|RP11-125O5.2_ENST00000590779.1_Splice_Site_p.V76L|SLCO1B7_ENST00000554957.1_Splice_Site_p.G622V|LST3_ENST00000381541.3_Splice_Site_p.G622V	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	575						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G575V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACATATTTGGGGTAAGTTGTC	0.313																																							uc010sil.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(2047-2049)GGA>GTA		SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;							94.0	101.0	99.0					12																	21229503		2203	4300	6503	SO:0001630	splice_region_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21229503G>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1724+1G>T	12.37:g.21229503G>T						LST-3TM12_uc010sim.1_Missense_Mutation_p.G622V|LST-3TM12_uc010sin.1_Missense_Mutation_p.G575V	p.G683V			Q9NPD5	SO1B3_HUMAN			15	2113	+	Esophageal squamous(101;0.149)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.2048G>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	11.73	1.726459	0.30593	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	T;T;T;T;T;T	0.73575	1.21;1.23;1.21;1.23;1.2;-0.76	2.36	2.36	0.29203	.	0.255793	0.32401	N	0.006148	T	0.81108	0.4754	L	0.56396	1.775	0.54753	D	0.999984	P;P;D	0.76494	0.896;0.896;0.999	P;P;D	0.87578	0.859;0.726;0.998	T	0.81282	-0.1003	10	0.62326	D	0.03	.	9.9242	0.41483	0.0:0.0:1.0:0.0	.	575;622;683	G3V0H7;F5H094;Q5JAR4	.;.;.	V	683;622;683;622;575;84	ENSP00000451758:G683V;ENSP00000370952:G622V;ENSP00000441269:G683V;ENSP00000452013:G622V;ENSP00000394168:G575V;ENSP00000439857:G84V	ENSP00000370952:G622V	G	+	2	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21120770	1.000000	0.71417	0.920000	0.36463	0.187000	0.23431	4.205000	0.58466	1.318000	0.45170	0.194000	0.17425	GGA		0.313	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	Missense_Mutation	30	45	1	0	2.47511e-08	0.008361	3.06035e-08	30	45				
KCNJ8	3764	broad.mit.edu	37	12	21919111	21919111	+	Missense_Mutation	SNP	C	C	T	rs149127157		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:21919111C>T	ENST00000240662.2	-	3	1166	c.821G>A	c.(820-822)cGc>cAc	p.R274H	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	274					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.R274H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CAGGGGACTGCGCTTGTCAAT	0.473																																							uc001rff.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(820-822)CGC>CAC		potassium inwardly-rectifying channel J8	Levosimendan(DB00922)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	67.0	71.0		821	5.3	1.0	12	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNJ8	NM_004982.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	274/425	21919111	2,13004	2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21919111C>T	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.821G>A	12.37:g.21919111C>T	ENSP00000240662:p.Arg274His						p.R274H	NM_004982	NP_004973	Q15842	IRK8_HUMAN			3	1159	-			274			Cytoplasmic (By similarity).		O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.821G>A	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638109	0.47153	2.27E-4	1.16E-4	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.91631	-2.88	5.35	5.35	0.76521	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.193690	0.56097	D	0.000033	D	0.89262	0.6665	L	0.41415	1.275	0.36155	D	0.847745	B	0.18461	0.028	B	0.14023	0.01	D	0.86849	0.2022	10	0.42905	T	0.14	.	19.2644	0.93980	0.0:1.0:0.0:0.0	.	274	Q15842	IRK8_HUMAN	H	274	ENSP00000240662:R274H	ENSP00000240662:R274H	R	-	2	0	KCNJ8	21810378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	-0.022000	0.12480	2.782000	0.95742	0.563000	0.77884	CGC		0.473	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		6	21	0	0	0	0.001168	0	6	21				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GTT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	p.G12V	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		17	21	1	0	1.96292e-10	0.010504	2.59312e-10	17	21				
TMTC1	83857	broad.mit.edu	37	12	29669326	29669326	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:29669326G>T	ENST00000539277.1	-	15	2321	c.2263C>A	c.(2263-2265)Cgc>Agc	p.R755S	TMTC1_ENST00000256062.5_Missense_Mutation_p.R647S|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.R779S|TMTC1_ENST00000551659.1_Missense_Mutation_p.R817S	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	755						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R647S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GACAAGAGGCGATAGCATTCA	0.453																																							uc001rjb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1939-1941)CGC>AGC		transmembrane and tetratricopeptide repeat							164.0	146.0	152.0					12																	29669326		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29669326G>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2263C>A	12.37:g.29669326G>T	ENSP00000442046:p.Arg755Ser					TMTC1_uc001riz.2_Missense_Mutation_p.R404S|TMTC1_uc001rja.2_Missense_Mutation_p.R491S|TMTC1_uc001riy.2_Missense_Mutation_p.R100S	p.R647S	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			15	2413	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		755			TPR 8.		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1939C>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560025	0.27827	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.51071	0.72;0.72;0.72;1.22	5.26	5.26	0.73747	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.050800	0.85682	D	0.000000	T	0.53530	0.1802	L	0.41632	1.29	0.80722	D	1	P;P;P	0.52842	0.912;0.956;0.603	P;P;B	0.56278	0.655;0.795;0.254	T	0.35624	-0.9781	10	0.18276	T	0.48	-27.8379	17.6163	0.88068	0.0:0.0:1.0:0.0	.	755;817;100	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	S	518;647;817;779;755	ENSP00000256062:R647S;ENSP00000448112:R817S;ENSP00000449043:R779S;ENSP00000442046:R755S	ENSP00000256062:R647S	R	-	1	0	TMTC1	29560593	1.000000	0.71417	0.997000	0.53966	0.632000	0.37999	8.742000	0.91588	2.733000	0.93635	0.655000	0.94253	CGC		0.453	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		31	72	1	0	2.70662e-09	0.009535	3.46025e-09	31	72				
TMTC1	83857	broad.mit.edu	37	12	29904683	29904683	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:29904683C>T	ENST00000539277.1	-	5	912	c.854G>A	c.(853-855)tGg>tAg	p.W285*	TMTC1_ENST00000256062.5_Nonsense_Mutation_p.W177*|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.W285*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.W285*|TMTC1_ENST00000381224.2_Nonsense_Mutation_p.W177*	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	285						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.W177*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GCAGCCACCCCAAGCTCCTTT	0.637																																							uc001rjb.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(529-531)TGG>TAG		transmembrane and tetratricopeptide repeat							71.0	67.0	69.0					12																	29904683		2203	4300	6503	SO:0001587	stop_gained	83857					integral to membrane	binding	g.chr12:29904683C>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.854G>A	12.37:g.29904683C>T	ENSP00000442046:p.Trp285*					TMTC1_uc001rjc.1_Nonsense_Mutation_p.W177*	p.W177*	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			5	1004	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		285					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Nonsense_Mutation	SNP	ENST00000539277.1	37	c.530G>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	42	9.261278	0.99117	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	.	.	.	4.73	3.81	0.43845	.	0.581435	0.18010	N	0.154590	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.3104	11.7412	0.51794	0.1773:0.8227:0.0:0.0	.	.	.	.	X	177;285;285;285;177	.	.	W	-	2	0	TMTC1	29795950	1.000000	0.71417	0.929000	0.37066	0.998000	0.95712	4.060000	0.57477	1.248000	0.43934	0.555000	0.69702	TGG		0.637	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		16	39	0	0	0	0.00499	0	16	39				
IPO8	10526	broad.mit.edu	37	12	30816432	30816432	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:30816432G>C	ENST00000256079.4	-	14	1923	c.1585C>G	c.(1585-1587)Cag>Gag	p.Q529E	IPO8_ENST00000544829.1_Missense_Mutation_p.Q324E	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	529					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.Q529E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTTGTATCTGGTTAGAAATT	0.378																																							uc001rjd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1585-1587)CAG>GAG		importin 8							97.0	92.0	94.0					12																	30816432		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30816432G>C	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1585C>G	12.37:g.30816432G>C	ENSP00000256079:p.Gln529Glu					IPO8_uc001rje.1_Missense_Mutation_p.Q18E|IPO8_uc010sjt.1_Missense_Mutation_p.Q324E	p.Q529E	NM_006390	NP_006381	O15397	IPO8_HUMAN			14	1755	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		529					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1585C>G	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637032	0.87760	.	.	ENSG00000133704	ENST00000256079;ENST00000544829	T;T	0.66280	-0.2;-0.2	5.0	5.0	0.66597	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	M	0.83012	2.62	0.80722	D	1	D;D;D	0.60575	0.988;0.979;0.985	P;D;P	0.74023	0.893;0.982;0.906	T	0.75434	-0.3319	10	0.08837	T	0.75	-12.7956	18.6396	0.91390	0.0:0.0:1.0:0.0	.	324;5;529	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	E	529;324	ENSP00000256079:Q529E;ENSP00000444520:Q324E	ENSP00000256079:Q529E	Q	-	1	0	IPO8	30707699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.509000	0.98002	2.464000	0.83262	0.591000	0.81541	CAG		0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		6	68	0	0	0	0.001168	0	6	68				
DENND5B	160518	broad.mit.edu	37	12	31576610	31576610	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:31576610C>A	ENST00000389082.5	-	11	2656		c.e11-1		DENND5B_ENST00000536562.1_Splice_Site|DENND5B_ENST00000306833.6_Splice_Site	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B						positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCGACTTCCCCTGAAAGTACA	0.343																																							uc001rki.1		NA																	1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e11-1		DENN/MADD domain containing 5B							183.0	168.0	173.0					12																	31576610		1836	4091	5927	SO:0001630	splice_region_variant	160518					integral to membrane		g.chr12:31576610C>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2392-1G>T	12.37:g.31576610C>A						DENND5B_uc001rkh.1_Splice_Site_p.G833_splice|DENND5B_uc009zjq.1_Intron	p.G798_splice	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			11	2578	-								B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Splice_Site	SNP	ENST00000389082.5	37	c.2392_splice	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054016	0.75960	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3566	0.87337	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND5B	31467877	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.052000	0.76634	2.741000	0.93983	0.655000	0.94253	.		0.343	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973	Intron	89	110	1	0	1.10192e-24	0.00361	1.8688e-24	89	110				
H3F3C	440093	broad.mit.edu	37	12	31944715	31944715	+	Missense_Mutation	SNP	C	C	A	rs147097287	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:31944715C>A	ENST00000340398.3	-	1	460	c.386G>T	c.(385-387)cGg>cTg	p.R129L		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	129					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)	p.R129L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TCCCCGTATCCGGCGAGCCAA	0.438										HNSCC(67;0.2)																													uc001rkr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(385-387)CGG>CTG		histone H3-like							124.0	119.0	121.0					12																	31944715		2203	4298	6501	SO:0001583	missense	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944715C>A	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.386G>T	12.37:g.31944715C>A	ENSP00000339835:p.Arg129Leu	HNSCC(67;0.2)					p.R129L	NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN			1	461	-			129					E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	c.386G>T	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	C	7.828	0.719300	0.15372	.	.	ENSG00000188375	ENST00000340398	T	0.75260	-0.92	1.34	0.331	0.15933	Histone-fold (2);Histone core (1);	0.000000	0.49305	U	0.000145	T	0.74635	0.3742	M	0.91612	3.225	0.30551	N	0.765456	B	0.09022	0.002	B	0.17433	0.018	T	0.70174	-0.4944	10	0.72032	D	0.01	.	5.6013	0.17355	0.0:0.7905:0.0:0.2095	.	129	Q6NXT2	H3C_HUMAN	L	129	ENSP00000339835:R129L	ENSP00000339835:R129L	R	-	2	0	H3F3C	31835982	1.000000	0.71417	0.893000	0.35052	0.890000	0.51754	3.777000	0.55364	-0.082000	0.12640	-0.506000	0.04501	CGG		0.438	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		93	92	1	0	1.02827e-36	0.00361	1.89313e-36	93	92				
ABCD2	225	broad.mit.edu	37	12	39967542	39967542	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:39967542G>T	ENST00000308666.3	-	9	2114	c.1979C>A	c.(1978-1980)tCt>tAt	p.S660Y		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	660	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.S660Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTGTGTTATAGACAGTAAGGA	0.368																																							uc001rmb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1978-1980)TCT>TAT		ATP-binding cassette, sub-family D, member 2							123.0	111.0	115.0					12																	39967542		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39967542G>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1979C>A	12.37:g.39967542G>T	ENSP00000310688:p.Ser660Tyr						p.S660Y	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			9	2405	-			660			ABC transporter.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.1979C>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639583	0.87760	.	.	ENSG00000173208	ENST00000308666	D	0.99841	-7.09	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	M	0.76328	2.33	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	D	0.97517	1.0070	9	.	.	.	-13.4613	18.7232	0.91703	0.0:0.0:1.0:0.0	.	660	Q9UBJ2	ABCD2_HUMAN	Y	660	ENSP00000310688:S660Y	.	S	-	2	0	ABCD2	38253809	1.000000	0.71417	0.918000	0.36340	0.977000	0.68977	9.672000	0.98629	2.482000	0.83794	0.563000	0.77884	TCT		0.368	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		36	46	1	0	2.87052e-16	0.005524	4.29722e-16	36	46				
CNTN1	1272	broad.mit.edu	37	12	41337488	41337488	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:41337488G>T	ENST00000551295.2	+	13	1586	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I	CNTN1_ENST00000348761.2_Missense_Mutation_p.R479I|CNTN1_ENST00000360099.3_Missense_Mutation_p.R490I|CNTN1_ENST00000547849.1_Missense_Mutation_p.R490I|CNTN1_ENST00000547702.1_Missense_Mutation_p.R490I|CNTN1_ENST00000347616.1_Missense_Mutation_p.R490I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	490	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R490I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAAAATAACAGAGGGAAAGCT	0.348																																							uc001rmm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(1468-1470)AGA>ATA		contactin 1 isoform 1 precursor							110.0	109.0	109.0					12																	41337488		2203	4296	6499	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41337488G>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1469G>T	12.37:g.41337488G>T	ENSP00000447006:p.Arg490Ile					CNTN1_uc009zjy.1_Missense_Mutation_p.R490I|CNTN1_uc001rmn.1_Missense_Mutation_p.R479I|CNTN1_uc001rmo.2_Missense_Mutation_p.R490I	p.R490I	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			13	1582	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	490			Ig-like C2-type 5.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1469G>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203892	0.58234	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.2	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117915	0.56097	D	0.000027	T	0.61850	0.2380	N	0.16307	0.4	0.58432	D	0.999997	D;P;P	0.71674	0.998;0.881;0.902	D;P;P	0.74674	0.984;0.593;0.716	T	0.61307	-0.7089	10	0.37606	T	0.19	.	10.2235	0.43212	0.1652:0.0:0.8348:0.0	.	490;479;490	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	I	490;490;490;490;490;479	ENSP00000448004:R490I;ENSP00000447006:R490I;ENSP00000448653:R490I;ENSP00000325660:R490I;ENSP00000353213:R490I;ENSP00000261160:R479I	ENSP00000325660:R490I	R	+	2	0	CNTN1	39623755	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.414000	0.59802	1.294000	0.44707	0.561000	0.74099	AGA		0.348	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		24	61	1	0	4.26978e-12	0.00333	5.84571e-12	24	61				
CNTN1	1272	broad.mit.edu	37	12	41410654	41410654	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:41410654G>T	ENST00000551295.2	+	19	2472	c.2355G>T	c.(2353-2355)aaG>aaT	p.K785N	CNTN1_ENST00000348761.2_Missense_Mutation_p.K774N|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.K785N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	785	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.K785N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTAAAGTCAAGGCCTTCAACA	0.423																																							uc001rmm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(2353-2355)AAG>AAT		contactin 1 isoform 1 precursor							123.0	106.0	112.0					12																	41410654		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41410654G>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2355G>T	12.37:g.41410654G>T	ENSP00000447006:p.Lys785Asn					CNTN1_uc001rmn.1_Missense_Mutation_p.K774N	p.K785N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			19	2468	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	785			Fibronectin type-III 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2355G>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353402	0.61293	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.58210	0.35;0.35;0.35	5.35	0.861	0.19048	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.73598	2.24	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.70487	0.948;0.969	T	0.62751	-0.6788	10	0.44086	T	0.13	.	8.7553	0.34641	0.5082:0.0:0.4918:0.0	.	774;785	Q12860-2;Q12860	.;CNTN1_HUMAN	N	785;785;774	ENSP00000447006:K785N;ENSP00000325660:K785N;ENSP00000261160:K774N	ENSP00000325660:K785N	K	+	3	2	CNTN1	39696921	1.000000	0.71417	0.992000	0.48379	0.882000	0.50991	1.873000	0.39558	0.270000	0.21984	0.655000	0.94253	AAG		0.423	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		27	87	1	0	2.85442e-18	0.010818	4.37755e-18	27	87				
DBX2	440097	broad.mit.edu	37	12	45429822	45429822	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:45429822G>T	ENST00000332700.6	-	2	650	c.479C>A	c.(478-480)gCa>gAa	p.A160E		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	160					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A160E(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		agtggaggatgcagggcgccg	0.488																																							uc001rok.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(478-480)GCA>GAA		developing brain homeobox 2							71.0	73.0	73.0					12																	45429822		2203	4300	6503	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45429822G>T		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.479C>A	12.37:g.45429822G>T	ENSP00000331470:p.Ala160Glu						p.A160E	NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	2	651	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	160						Missense_Mutation	SNP	ENST00000332700.6	37	c.479C>A	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	G	3.086	-0.188008	0.06299	.	.	ENSG00000185610	ENST00000332700	D	0.91740	-2.9	5.95	1.0	0.19881	.	0.412421	0.23096	N	0.051977	D	0.84437	0.5472	L	0.34521	1.04	0.31048	N	0.715506	D	0.54397	0.966	B	0.44315	0.446	T	0.80315	-0.1434	10	0.13108	T	0.6	-1.599	7.1919	0.25831	0.252:0.1116:0.6364:0.0	.	160	Q6ZNG2	DBX2_HUMAN	E	160	ENSP00000331470:A160E	ENSP00000331470:A160E	A	-	2	0	DBX2	43716089	0.979000	0.34478	0.018000	0.16275	0.039000	0.13416	1.728000	0.38105	0.136000	0.18733	-0.844000	0.03045	GCA		0.488	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		14	14	1	0	4.75885e-15	0.00499	6.86478e-15	14	14				
KRT84	3890	broad.mit.edu	37	12	52778922	52778922	+	Missense_Mutation	SNP	G	G	A	rs532227497		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:52778922G>A	ENST00000257951.3	-	1	514	c.448C>T	c.(448-450)Ctc>Ttc	p.L150F	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	150	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.L150I(1)|p.L150F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGGTTGAGGGGGGTCAGT	0.527																																							uc001sah.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(448-450)CTC>TTC		keratin, hair, basic, 4							167.0	173.0	171.0					12																	52778922		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52778922G>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.448C>T	12.37:g.52778922G>A	ENSP00000257951:p.Leu150Phe						p.L150F	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	496	-	all_hematologic(5;0.12)		150			Head.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.448C>T	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820892	0.71028	.	.	ENSG00000161849	ENST00000257951	T	0.79352	-1.26	5.15	5.15	0.70609	.	0.000000	0.44688	D	0.000430	D	0.91462	0.7305	M	0.94063	3.49	0.45607	D	0.998545	D	0.76494	0.999	D	0.87578	0.998	D	0.93081	0.6491	10	0.87932	D	0	.	19.1948	0.93682	0.0:0.0:1.0:0.0	.	150	Q9NSB2	KRT84_HUMAN	F	150	ENSP00000257951:L150F	ENSP00000257951:L150F	L	-	1	0	KRT84	51065189	1.000000	0.71417	0.997000	0.53966	0.762000	0.43233	3.203000	0.51075	2.849000	0.98006	0.609000	0.83330	CTC		0.527	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		18	307	0	0	0	0.008871	0	18	307				
KRT5	3852	broad.mit.edu	37	12	52908997	52908997	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:52908997C>A	ENST00000252242.4	-	9	1892	c.1502G>T	c.(1501-1503)gGa>gTa	p.G501V		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	501	Tail.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.G501V(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		actgccATATCCAGAGGAAAC	0.582																																							uc001san.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1501-1503)GGA>GTA		keratin 5							49.0	47.0	48.0					12																	52908997		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52908997C>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1502G>T	12.37:g.52908997C>A	ENSP00000252242:p.Gly501Val						p.G501V	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1665	-			501			Tail.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.1502G>T	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104751	0.20632	.	.	ENSG00000186081	ENST00000252242;ENST00000456000	D	0.91295	-2.82	5.57	0.328	0.15918	.	0.772082	0.11366	N	0.571404	D	0.85309	0.5667	L	0.45137	1.4	0.48511	D	0.999669	B	0.15141	0.012	B	0.19666	0.026	T	0.69636	-0.5092	10	0.13108	T	0.6	.	12.486	0.55872	0.0:0.5557:0.3709:0.0734	.	501	P13647	K2C5_HUMAN	V	501;466	ENSP00000252242:G501V	ENSP00000252242:G501V	G	-	2	0	KRT5	51195264	0.009000	0.17119	0.057000	0.19452	0.094000	0.18550	-0.069000	0.11542	-0.259000	0.09432	0.655000	0.94253	GGA		0.582	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			10	35	1	0	0.00829132	0.008291	0.00875647	10	35				
SOAT2	8435	broad.mit.edu	37	12	53514665	53514665	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:53514665C>A	ENST00000301466.3	+	11	1195	c.1135C>A	c.(1135-1137)Cgg>Agg	p.R379R		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	379					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)	p.R379R(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GATGTTCTACCGGGTGGGGCC	0.557																																							uc001sbv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1135-1137)CGG>AGG		acyl-CoA:cholesterol acyltransferase 2							129.0	108.0	115.0					12																	53514665		2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53514665C>A	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1135C>A	12.37:g.53514665C>A						SOAT2_uc009zms.2_RNA	p.R379R	NM_003578	NP_003569	O75908	SOAT2_HUMAN			11	1223	+			379					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.1135C>A	CCDS8847.1																																																																																				0.557	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			45	66	1	0	1.35964e-18	0.00361	2.1153e-18	45	66				
GPR84	53831	broad.mit.edu	37	12	54757386	54757386	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:54757386G>T	ENST00000551809.1	-	1	885	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.L84M|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.L84M(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGCCAGTGCAGGTGGAGGTAG	0.582																																							uc001sfu.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(250-252)CTG>ATG		G protein-coupled receptor 84							143.0	126.0	132.0					12																	54757386		2203	4300	6503	SO:0001583	missense	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54757386G>T	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.250C>A	12.37:g.54757386G>T	ENSP00000450310:p.Leu84Met						p.L84M	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN			2	340	-			84			Extracellular (Potential).		B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.250C>A	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308986	0.60414	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.37584	1.19;1.19	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.60379	0.2264	M	0.69823	2.125	0.52501	D	0.999959	D	0.89917	1.0	D	0.91635	0.999	T	0.62506	-0.6840	10	0.62326	D	0.03	-9.1696	16.6417	0.85128	0.0:0.0:1.0:0.0	.	84	Q9NQS5	GPR84_HUMAN	M	84	ENSP00000267015:L84M;ENSP00000450310:L84M	ENSP00000267015:L84M	L	-	1	2	GPR84	53043653	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.730000	0.62015	2.602000	0.87976	0.555000	0.69702	CTG		0.582	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			11	25	1	0	0.000978159	0.010729	0.00105979	11	25				
TIMELESS	8914	broad.mit.edu	37	12	56814763	56814763	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:56814763T>A	ENST00000553532.1	-	24	3174	c.3024A>T	c.(3022-3024)caA>caT	p.Q1008H	TIMELESS_ENST00000229201.4_Missense_Mutation_p.Q1007H|TIMELESS_ENST00000554616.1_Missense_Mutation_p.Q505H					timeless circadian clock									p.Q1008H(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GATGCAGGCTTTGACCAAGGT	0.498																																							uc001slf.2		NA																	1	Substitution - Missense(1)	p.Q1008E(1)	lung(1)	ovary(5)|breast(2)|pancreas(1)	8						c.(3022-3024)CAA>CAT		timeless homolog							131.0	125.0	127.0					12																	56814763		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56814763T>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3024A>T	12.37:g.56814763T>A	ENSP00000450607:p.Gln1008His						p.Q1008H	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			24	3192	-			1008		Q -> E (in a breast cancer sample; somatic mutation).				Missense_Mutation	SNP	ENST00000553532.1	37	c.3024A>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.937159	0.34189	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.12984	2.63;2.63;2.63	5.33	1.45	0.22620	Timeless C-terminal (1);	0.660669	0.15474	N	0.260477	T	0.08980	0.0222	L	0.38175	1.15	0.19300	N	0.99997	B	0.06786	0.001	B	0.08055	0.003	T	0.30208	-0.9986	10	0.30854	T	0.27	-9.9097	3.9128	0.09210	0.0:0.1969:0.1834:0.6197	.	1008	Q9UNS1	TIM_HUMAN	H	1007;1008;505	ENSP00000229201:Q1007H;ENSP00000450607:Q1008H;ENSP00000450848:Q505H	ENSP00000229201:Q1008H	Q	-	3	2	TIMELESS	55101030	0.006000	0.16342	0.998000	0.56505	0.978000	0.69477	-0.913000	0.04042	0.433000	0.26313	0.459000	0.35465	CAA		0.498	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		35	101	0	0	0	0.005524	0	35	101				
PTPRB	5787	broad.mit.edu	37	12	70974892	70974892	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:70974892G>A	ENST00000261266.5	-	8	1877	c.1848C>T	c.(1846-1848)ggC>ggT	p.G616G	PTPRB_ENST00000550358.1_Silent_p.G834G|PTPRB_ENST00000451516.2_Silent_p.G526G|PTPRB_ENST00000538708.1_Silent_p.G616G|PTPRB_ENST00000550857.1_Silent_p.G526G|PTPRB_ENST00000334414.6_Silent_p.G834G|PTPRB_ENST00000551525.1_Silent_p.G833G	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	616	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G616G(2)|p.G834G(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGTACAGGCTGCCGGACTTGA	0.458																																							uc001swb.3		NA																	3	Substitution - coding silent(3)		lung(3)	lung(2)|skin(1)	3						c.(1846-1848)GGC>GGT		protein tyrosine phosphatase, receptor type, B							121.0	124.0	123.0					12																	70974892		1955	4143	6098	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70974892G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1848C>T	12.37:g.70974892G>A						PTPRB_uc010sto.1_Silent_p.G616G|PTPRB_uc010stp.1_Silent_p.G526G|PTPRB_uc001swc.3_Silent_p.G834G|PTPRB_uc001swa.3_Silent_p.G834G|PTPRB_uc001swd.3_Silent_p.G833G|PTPRB_uc009zrr.1_Silent_p.G713G	p.G616G	NM_002837	NP_002828	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)		8	1878	-	Renal(347;0.236)		616			Fibronectin type-III 7.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.1848C>T	CCDS44944.1																																																																																				0.458	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			70	85	0	0	0	0.00361	0	70	85				
PTPRB	5787	broad.mit.edu	37	12	70983910	70983910	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:70983910G>T	ENST00000261266.5	-	6	1259	c.1230C>A	c.(1228-1230)atC>atA	p.I410I	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Silent_p.I628I|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000538708.1_Silent_p.I410I|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000334414.6_Silent_p.I628I|PTPRB_ENST00000551525.1_Silent_p.I627I	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	410	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I410I(2)|p.I628I(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAAGAGTAGGATCCGATACT	0.512											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001swb.3		NA																	3	Substitution - coding silent(3)		lung(3)	lung(2)|skin(1)	3						c.(1228-1230)ATC>ATA		protein tyrosine phosphatase, receptor type, B							129.0	130.0	130.0					12																	70983910		2008	4193	6201	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70983910G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1230C>A	12.37:g.70983910G>T			OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1126	PTPRB_uc010sto.1_Silent_p.I410I|PTPRB_uc010stp.1_Intron|PTPRB_uc001swc.3_Silent_p.I628I|PTPRB_uc001swa.3_Silent_p.I628I|PTPRB_uc001swd.3_Silent_p.I627I|PTPRB_uc009zrr.1_Silent_p.I507I	p.I410I	NM_002837	NP_002828	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)		6	1260	-	Renal(347;0.236)		410			Fibronectin type-III 5.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.1230C>A	CCDS44944.1																																																																																				0.512	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			46	80	1	0	1.31131e-34	0.013114	2.38505e-34	46	80				
NAV3	89795	broad.mit.edu	37	12	78579461	78579461	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:78579461G>T	ENST00000397909.2	+	31	5946	c.5773G>T	c.(5773-5775)Ggc>Tgc	p.G1925C	NAV3_ENST00000536525.2_Missense_Mutation_p.G1903C|NAV3_ENST00000228327.6_Missense_Mutation_p.G1903C|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Missense_Mutation_p.G1726C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1925						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.G1903C(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATAAGCAAGGGCTATGGTCG	0.333										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(5773-5775)GGC>TGC		neuron navigator 3							116.0	107.0	110.0					12																	78579461		1879	4116	5995	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78579461G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5773G>T	12.37:g.78579461G>T	ENSP00000381007:p.Gly1925Cys	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.G1903C|NAV3_uc010sub.1_Missense_Mutation_p.G1382C|NAV3_uc009zsf.2_Missense_Mutation_p.G734C	p.G1925C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			31	5946	+			1925					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5773G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.87|19.87	3.906535|3.906535	0.72868|0.72868	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.29397|.	1.67;1.67;1.67;1.57;2.46|.	5.67|5.67	4.78|4.78	0.61160|0.61160	.|.	0.000000|0.000000	0.41001|0.41001	U|U	0.000978|0.000978	T|T	0.59865|0.59865	0.2225|0.2225	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.997;0.999;0.998;0.997|.	P;D;P;D|.	0.63703|.	0.848;0.917;0.808;0.912|.	T|T	0.56998|0.56998	-0.7886|-0.7886	10|6	0.72032|.	D|.	0.01|.	-17.1281|-17.1281	14.4886|14.4886	0.67634|0.67634	0.0706:0.0:0.9294:0.0|0.0706:0.0:0.9294:0.0	.|.	1903;1726;1925;1903|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	C|V	1903;1925;1903;1726;517;525|797	ENSP00000446132:G1903C;ENSP00000381007:G1925C;ENSP00000228327:G1903C;ENSP00000266692:G1726C;ENSP00000448303:G525C|.	ENSP00000228327:G1903C|.	G|G	+|+	1|2	0|0	NAV3|NAV3	77103592|77103592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.030000|7.030000	0.76484|0.76484	1.384000|1.384000	0.46424|0.46424	0.655000|0.655000	0.94253|0.94253	GGC|GGG		0.333	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		12	28	1	0	2.27111e-07	0.001368	2.74062e-07	12	28				
MYF6	4618	broad.mit.edu	37	12	81102680	81102680	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:81102680G>T	ENST00000228641.3	+	3	892	c.670G>T	c.(670-672)Gac>Tac	p.D224Y		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	224					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D224Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTCCATCGTGGACAGTATTTC	0.512																																							uc001szf.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(670-672)GAC>TAC		myogenic factor 6							153.0	132.0	139.0					12																	81102680		2203	4300	6503	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81102680G>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.670G>T	12.37:g.81102680G>T	ENSP00000228641:p.Asp224Tyr						p.D224Y	NM_002469	NP_002460	P23409	MYF6_HUMAN			3	723	+			224					B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.670G>T	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560447	0.65538	.	.	ENSG00000111046	ENST00000228641	D	0.97598	-4.45	5.6	5.6	0.85130	.	0.135819	0.64402	D	0.000003	D	0.98277	0.9429	M	0.73962	2.25	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	D	0.99239	1.0884	10	0.87932	D	0	-38.2672	17.3929	0.87437	0.0:0.0:1.0:0.0	.	224	P23409	MYF6_HUMAN	Y	224	ENSP00000228641:D224Y	ENSP00000228641:D224Y	D	+	1	0	MYF6	79626811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.483000	0.66838	2.638000	0.89438	0.591000	0.81541	GAC		0.512	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		38	86	1	0	1.47244e-24	0.00623	2.49157e-24	38	86				
LUM	4060	broad.mit.edu	37	12	91502248	91502248	+	Missense_Mutation	SNP	C	C	A	rs368836782		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:91502248C>A	ENST00000266718.4	-	2	963	c.509G>T	c.(508-510)cGg>cTg	p.R170L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	170					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.R170L(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CTCTTTCAGCCGATTGTGCTG	0.443																																							uc001tbm.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(508-510)CGG>CTG		lumican precursor		C	LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	99.0	99.0		509	4.5	1.0	12		99	0,8600		0,0,4300	no	missense	LUM	NM_002345.3	102	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	170/339	91502248	1,13005	2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502248C>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.509G>T	12.37:g.91502248C>A	ENSP00000266718:p.Arg170Leu					LUM_uc001tbn.2_Intron	p.R170L	NM_002345	NP_002336	P51884	LUM_HUMAN			2	898	-			170			LRR 5.		B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.509G>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544585	0.27563	2.27E-4	0.0	ENSG00000139329	ENST00000266718	T	0.57752	0.38	5.6	4.46	0.54185	.	0.355674	0.30329	N	0.009863	T	0.36580	0.0972	N	0.21373	0.66	0.26698	N	0.971222	B	0.17268	0.021	B	0.27500	0.08	T	0.23511	-1.0186	10	0.30854	T	0.27	-14.9632	6.9824	0.24709	0.0:0.0766:0.149:0.7744	.	170	P51884	LUM_HUMAN	L	170	ENSP00000266718:R170L	ENSP00000266718:R170L	R	-	2	0	LUM	90026379	1.000000	0.71417	0.998000	0.56505	0.545000	0.35147	3.896000	0.56266	0.972000	0.38314	-0.484000	0.04775	CGG		0.443	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		28	109	1	0	5.61819e-17	0.005443	8.47795e-17	28	109				
FAM71C	196472	broad.mit.edu	37	12	100042084	100042084	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:100042084C>A	ENST00000324341.1	+	1	554	c.132C>A	c.(130-132)ccC>ccA	p.P44P	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	44								p.P44P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GGTATGCACCCATGTTTGAGA	0.522																																							uc001tgn.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(130-132)CCC>CCA		hypothetical protein LOC196472							140.0	128.0	132.0					12																	100042084		2203	4300	6503	SO:0001819	synonymous_variant	196472							g.chr12:100042084C>A		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.132C>A	12.37:g.100042084C>A						ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	p.P44P	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	554	+			44					B2R6Y6	Silent	SNP	ENST00000324341.1	37	c.132C>A	CCDS9072.1																																																																																				0.522	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		12	89	1	0	0.00136819	0.001368	0.00146969	12	89				
GOLGA2P5	55592	broad.mit.edu	37	12	100551393	100551393	+	RNA	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:100551393C>A	ENST00000397112.4	-	0	1805				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)		p.R68M(1)		large_intestine(1)|lung(3)	4						GGGCTGCTGCCTCAGGTTCCT	0.647																																							uc001tgs.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(202-204)AGG>ATG		golgi autoantigen, golgin subfamily a, 2-like 1							32.0	35.0	34.0					12																	100551393		2203	4300	6503			55592							g.chr12:100551393C>A																													12.37:g.100551393C>A						GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.R68M|uc001tgx.2_5'Flank	p.R68M	NM_017600	NP_060070					4	647	-								Q9NSV2	Missense_Mutation	SNP	ENST00000397112.4	37	c.203G>T																																																																																					0.647	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			28	37	1	0	1.50538e-07	0.00632	1.82243e-07	28	37				
UTP20	27340	broad.mit.edu	37	12	101689353	101689353	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:101689353C>A	ENST00000261637.4	+	12	1521	c.1347C>A	c.(1345-1347)ctC>ctA	p.L449L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	449					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L449L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGGCCAAGCTCATTCTGAACA	0.433																																							uc001tia.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(1345-1347)CTC>CTA		down-regulated in metastasis							71.0	63.0	66.0					12																	101689353		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101689353C>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1347C>A	12.37:g.101689353C>A							p.L449L	NM_014503	NP_055318	O75691	UTP20_HUMAN			12	1503	+			449					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.1347C>A	CCDS9081.1																																																																																				0.433	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		12	43	1	0	2.80697e-09	0.010729	3.5764e-09	12	43				
SYCP3	50511	broad.mit.edu	37	12	102131607	102131607	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:102131607C>G	ENST00000392927.3	-	2	238	c.107G>C	c.(106-108)aGt>aCt	p.S36T	SYCP3_ENST00000392924.1_Missense_Mutation_p.S36T|SYCP3_ENST00000266743.2_Missense_Mutation_p.S36T	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	36					male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S36T(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CTCTGATCCACTCAGATCTTT	0.423																																							uc001tiq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(106-108)AGT>ACT		synaptonemal complex protein 3							190.0	156.0	168.0					12																	102131607		2203	4300	6503	SO:0001583	missense	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102131607C>G	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.107G>C	12.37:g.102131607C>G	ENSP00000376658:p.Ser36Thr					SYCP3_uc001tir.2_Missense_Mutation_p.S36T|SYCP3_uc001tis.2_Missense_Mutation_p.S36T	p.S36T	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN			2	239	-			36						Missense_Mutation	SNP	ENST00000392927.3	37	c.107G>C	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999947	0.35320	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.23	1.19	0.21007	.	0.408190	0.27792	N	0.017838	T	0.63248	0.2495	M	0.74258	2.255	0.39398	D	0.966536	D	0.61080	0.989	P	0.55749	0.783	T	0.59968	-0.7354	9	0.38643	T	0.18	0.427	6.4311	0.21796	0.1234:0.5572:0.2512:0.0682	.	36	Q8IZU3	SYCP3_HUMAN	T	36	.	ENSP00000266743:S36T	S	-	2	0	SYCP3	100655738	1.000000	0.71417	0.000000	0.03702	0.020000	0.10135	1.108000	0.31123	-0.050000	0.13356	0.655000	0.94253	AGT		0.423	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		10	200	0	0	0	0.008291	0	10	200				
BTBD11	121551	broad.mit.edu	37	12	108010922	108010922	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:108010922C>A	ENST00000280758.5	+	8	2586	c.2058C>A	c.(2056-2058)aaC>aaA	p.N686K	BTBD11_ENST00000357167.4_Missense_Mutation_p.N223K|BTBD11_ENST00000490090.2_Missense_Mutation_p.N686K|BTBD11_ENST00000420571.2_Missense_Mutation_p.N686K|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	686						integral component of membrane (GO:0016021)		p.N686K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCGAGGAGAACTACTCGGAAA	0.612																																							uc001tmk.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2056-2058)AAC>AAA		BTB (POZ) domain containing 11 isoform a							139.0	115.0	124.0					12																	108010922		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108010922C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2058C>A	12.37:g.108010922C>A	ENSP00000280758:p.Asn686Lys					BTBD11_uc009zut.1_Missense_Mutation_p.N686K|BTBD11_uc001tmj.2_Missense_Mutation_p.N686K|BTBD11_uc001tml.1_Missense_Mutation_p.N223K	p.N686K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			8	2579	+			686					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.2058C>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515594	0.44763	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.62788	0.0;0.67;0.0;0.0	5.27	4.37	0.52481	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	N	0.10664	0.02	0.80722	D	1	P;D;D;D	0.76494	0.846;0.991;0.999;0.998	P;D;D;D	0.83275	0.712;0.988;0.996;0.912	T	0.50972	-0.8764	10	0.10902	T	0.67	.	12.3854	0.55328	0.0:0.8612:0.0:0.1388	.	686;223;686;686	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	K	686;686;686;223	ENSP00000280758:N686K;ENSP00000413889:N686K;ENSP00000447319:N686K;ENSP00000349690:N223K	ENSP00000280758:N686K	N	+	3	2	BTBD11	106535052	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.272000	0.43373	2.454000	0.82982	0.655000	0.94253	AAC		0.612	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		23	68	1	0	1.42536e-11	0.004656	1.93386e-11	23	68				
CUX2	23316	broad.mit.edu	37	12	111729244	111729244	+	Silent	SNP	G	G	A	rs372659202		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:111729244G>A	ENST00000261726.6	+	5	478	c.324G>A	c.(322-324)gcG>gcA	p.A108A		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	108					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.A108A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGTTTGAGGCGGCACGCAGCC	0.652																																							uc001tsa.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(322-324)GCG>GCA		cut-like 2				1,4033		0,1,2016	59.0	65.0	63.0		324	-4.8	0.0	12		63	0,8336		0,0,4168	no	coding-synonymous	CUX2	NM_015267.3		0,1,6184	AA,AG,GG		0.0,0.0248,0.0081		108/1487	111729244	1,12369	2017	4168	6185	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111729244G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.324G>A	12.37:g.111729244G>A						CUX2_uc001tsb.1_Silent_p.A163A	p.A108A	NM_015267	NP_056082	O14529	CUX2_HUMAN			5	477	+			108					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.324G>A	CCDS41837.1																																																																																				0.652	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		11	93	0	0	0	0.010729	0	11	93				
NAA25	80018	broad.mit.edu	37	12	112516017	112516017	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:112516017C>A	ENST00000261745.4	-	7	887	c.639G>T	c.(637-639)ttG>ttT	p.L213F		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	213						cytoplasm (GO:0005737)		p.L213F(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGATGACATCCAAGGCCTCCT	0.299																																							uc001ttm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(637-639)TTG>TTT		mitochondrial distribution and morphology 20							60.0	64.0	63.0					12																	112516017		2202	4298	6500	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112516017C>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.639G>T	12.37:g.112516017C>A	ENSP00000261745:p.Leu213Phe					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.L185F|NAA25_uc009zwa.1_Missense_Mutation_p.L213F	p.L213F	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			7	659	-			213					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.639G>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662589	0.67700	.	.	ENSG00000111300	ENST00000261745	T	0.42131	0.98	5.52	3.7	0.42460	.	0.074968	0.53938	D	0.000050	T	0.59197	0.2176	M	0.72894	2.215	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.58002	-0.7713	10	0.54805	T	0.06	-6.8467	8.5382	0.33377	0.0:0.6867:0.0:0.3133	.	213;213	A8K8X0;Q14CX7	.;NAA25_HUMAN	F	213	ENSP00000261745:L213F	ENSP00000261745:L213F	L	-	3	2	NAA25	111000400	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	0.496000	0.22499	0.710000	0.31997	0.591000	0.81541	TTG		0.299	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		35	53	1	0	1.38162e-09	0.00874	1.77233e-09	35	53				
HECTD4	283450	broad.mit.edu	37	12	112681285	112681285	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:112681285C>A	ENST00000430131.2	-	31	4709	c.3564G>T	c.(3562-3564)agG>agT	p.R1188S	HECTD4_ENST00000550722.1_Missense_Mutation_p.R1464S|HECTD4_ENST00000377560.5_Missense_Mutation_p.R1438S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1188					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1188S(1)|p.R1438S(1)									CCCGCCGCCACCTTGTCTGTG	0.592																																							uc009zwc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(3562-3564)AGG>AGT		chromosome 12 open reading frame 51							37.0	40.0	39.0					12																	112681285		2166	4267	6433	SO:0001583	missense	283450							g.chr12:112681285C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3564G>T	12.37:g.112681285C>A	ENSP00000404379:p.Arg1188Ser						p.R1188S	NM_001109662	NP_001103132					25	3582	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.3564G>T		.	.	.	.	.	.	.	.	.	.	C	16.43	3.119786	0.56613	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.64085	-0.07;-0.05;-0.08	5.84	0.895	0.19247	.	.	.	.	.	T	0.60741	0.2292	L	0.27053	0.805	0.50039	D	0.999843	D	0.54601	0.967	D	0.63597	0.916	T	0.58940	-0.7547	9	0.87932	D	0	.	6.5474	0.22414	0.0:0.4972:0.1118:0.3909	.	1188	Q9Y4D8	K0614_HUMAN	S	1438;1188;1464	ENSP00000366783:R1438S;ENSP00000404379:R1188S;ENSP00000449784:R1464S	ENSP00000366783:R1438S	R	-	3	2	C12orf51	111165668	0.599000	0.26891	0.971000	0.41717	0.975000	0.68041	-0.235000	0.09016	0.107000	0.17824	-0.127000	0.14921	AGG		0.592	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		6	7	1	0	8.12818e-05	0.001984	9.16246e-05	6	7				
NOS1	4842	broad.mit.edu	37	12	117681107	117681107	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:117681107G>T	ENST00000338101.4	-	19	3063	c.3059C>A	c.(3058-3060)aCa>aAa	p.T1020K	NOS1_ENST00000317775.6_Missense_Mutation_p.T986K|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.T986K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGTACCTTGTGTGAGTTCTGG	0.517																																					Esophageal Squamous(162;1748 2599 51982 52956)	Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(2956-2958)ACA>AAA		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						187.0	180.0	182.0					12																	117681107		2012	4171	6183	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117681107G>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3059C>A	12.37:g.117681107G>T	ENSP00000337459:p.Thr1020Lys						p.T986K	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	19	3643	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		986						Missense_Mutation	SNP	ENST00000338101.4	37	c.2957C>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	6.841	0.524327	0.13066	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.32272	1.46;1.46	3.59	3.59	0.41128	Riboflavin synthase-like beta-barrel (1);	0.051995	0.85682	D	0.000000	T	0.32941	0.0846	L	0.40543	1.245	0.80722	D	1	D	0.67145	0.996	P	0.53988	0.739	T	0.07309	-1.0779	10	0.05959	T	0.93	-15.596	15.7365	0.77849	0.0:0.0:1.0:0.0	.	986	P29475	NOS1_HUMAN	K	881;986;986;1020	ENSP00000320758:T986K;ENSP00000337459:T1020K	ENSP00000320758:T986K	T	-	2	0	NOS1	116165490	1.000000	0.71417	0.842000	0.33263	0.736000	0.42039	6.244000	0.72391	2.006000	0.58801	0.305000	0.20034	ACA		0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			34	40	1	0	3.33393e-15	0.004878	4.85581e-15	34	40				
KDM2B	84678	broad.mit.edu	37	12	122018776	122018777	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr12:122018776_122018777GG>AA	ENST00000377071.4	-	1	112_113	c.40_41CC>TT	c.(40-42)CCc>TTc	p.P14F	KDM2B_ENST00000538046.2_Missense_Mutation_p.P14F|KDM2B_ENST00000377069.4_5'Flank|KDM2B_ENST00000536437.1_5'UTR|RP13-941N14.1_ENST00000541574.1_lincRNA	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	14					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.P14F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTTTCGTGGGGGGTGATCCTCT	0.48																																							uc001uat.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(40-42)CCC>TTC		F-box and leucine-rich repeat protein 10 isoform																																				SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:122018776_122018777GG>AA	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.40_41delinsAA	12.37:g.122018776_122018777delinsAA	ENSP00000366271:p.Pro14Phe					KDM2B_uc001uas.2_5'Flank|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Missense_Mutation_p.P14F	p.P14F	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			1	144_145	-			14					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	DNP	ENST00000377071.4	37	c.40_41CC>TT	CCDS41850.1																																																																																				0.480	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		81	83	0	0	0	0.004672	0	81	83				
RNF17	56163	broad.mit.edu	37	13	25416251	25416251	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:25416251G>T	ENST00000255324.5	+	19	2607	c.2555G>T	c.(2554-2556)aGt>aTt	p.S852I	RNF17_ENST00000339524.3_5'Flank|RNF17_ENST00000381921.1_Missense_Mutation_p.S852I	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	852					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S852I(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTACTACTAGTATTAATGAC	0.348																																							uc001upr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2554-2556)AGT>ATT		ring finger protein 17							146.0	138.0	141.0					13																	25416251		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25416251G>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2555G>T	13.37:g.25416251G>T	ENSP00000255324:p.Ser852Ile					RNF17_uc010tdd.1_Missense_Mutation_p.S711I|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.S852I|RNF17_uc001ups.2_Missense_Mutation_p.S791I|RNF17_uc010aac.2_Missense_Mutation_p.S50I|RNF17_uc010aad.2_5'Flank	p.S852I	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	19	2596	+		Lung SC(185;0.0225)|Breast(139;0.077)	852					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2555G>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393647	0.62066	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.32753	1.44;1.44;1.44	5.29	5.29	0.74685	Staphylococcal nuclease (SNase-like) (1);	0.000000	0.64402	D	0.000004	T	0.45816	0.1361	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.965	T	0.38779	-0.9645	10	0.62326	D	0.03	-16.2891	16.2019	0.82087	0.0:0.0:1.0:0.0	.	852;852;852	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	I	852;852;711;176	ENSP00000255324:S852I;ENSP00000371346:S852I;ENSP00000388892:S176I	ENSP00000255324:S852I	S	+	2	0	RNF17	24314251	1.000000	0.71417	0.995000	0.50966	0.558000	0.35554	5.510000	0.67018	2.638000	0.89438	0.585000	0.79938	AGT		0.348	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		38	43	1	0	2.54651e-27	0.006999	4.41825e-27	38	43				
PABPC3	5042	broad.mit.edu	37	13	25671243	25671243	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:25671243G>A	ENST00000281589.3	+	1	944	c.907G>A	c.(907-909)Gat>Aat	p.D303N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	303	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.D303N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAATCTTGATGATGGTATTGA	0.428																																							uc001upy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(907-909)GAT>AAT		poly(A) binding protein, cytoplasmic 3							209.0	207.0	208.0					13																	25671243		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671243G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.907G>A	13.37:g.25671243G>A	ENSP00000281589:p.Asp303Asn						p.D303N	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	968	+		Lung SC(185;0.0225)|Breast(139;0.0602)	303			RRM 4.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.907G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429660	0.43122	.	.	ENSG00000151846	ENST00000281589	T	0.15256	2.44	0.875	0.875	0.19130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.48286	U	0.000190	T	0.20129	0.0484	N	0.17872	0.535	0.51233	D	0.999919	D	0.67145	0.996	D	0.67231	0.95	T	0.03157	-1.1066	10	0.87932	D	0	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	303	Q9H361	PABP3_HUMAN	N	303	ENSP00000281589:D303N	ENSP00000281589:D303N	D	+	1	0	PABPC3	24569243	1.000000	0.71417	0.962000	0.40283	0.253000	0.25986	6.589000	0.74080	0.759000	0.33084	0.313000	0.20887	GAT		0.428	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		125	173	0	0	0	0.00361	0	125	173				
WASF3	10810	broad.mit.edu	37	13	27255238	27255238	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:27255238A>G	ENST00000335327.5	+	8	942	c.764A>G	c.(763-765)aAc>aGc	p.N255S	WASF3_ENST00000361042.4_Missense_Mutation_p.N252S	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	255					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)		p.N255S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCTACTCCCAACCATTCTCTG	0.527																																							uc001uqv.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(763-765)AAC>AGC		WAS protein family, member 3							88.0	97.0	94.0					13																	27255238		2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27255238A>G	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.764A>G	13.37:g.27255238A>G	ENSP00000335055:p.Asn255Ser					WASF3_uc001uqw.2_Missense_Mutation_p.N252S	p.N255S	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	989	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	255					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.764A>G	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582832	0.46006	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.46451	0.87;0.93	5.94	5.94	0.96194	.	0.039613	0.85682	D	0.000000	T	0.38878	0.1057	L	0.59436	1.845	0.58432	D	0.999995	B;B	0.14805	0.011;0.001	B;B	0.12156	0.007;0.004	T	0.33369	-0.9871	10	0.07175	T	0.84	-49.1502	16.3809	0.83461	1.0:0.0:0.0:0.0	.	252;255	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	S	252;255	ENSP00000354325:N252S;ENSP00000335055:N255S	ENSP00000335055:N255S	N	+	2	0	WASF3	26153238	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.204000	0.58460	2.272000	0.75746	0.454000	0.30748	AAC		0.527	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			16	72	0	0	0	0.007413	0	16	72				
GPR12	2835	broad.mit.edu	37	13	27333098	27333098	+	Silent	SNP	G	G	T	rs373795471		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:27333098G>T	ENST00000381436.2	-	1	1329	c.867C>A	c.(865-867)ccC>ccA	p.P289P	GPR12_ENST00000405846.3_Silent_p.P289P			P47775	GPR12_HUMAN	G protein-coupled receptor 12	289					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.P289P(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGTAGGTGGCGGGCAGGAGGG	0.522																																							uc010aal.2		NA																	2	Substitution - coding silent(2)		lung(1)|endometrium(1)		0						c.(865-867)CCC>CCA		G protein-coupled receptor 12							130.0	127.0	128.0					13																	27333098		2203	4300	6503	SO:0001819	synonymous_variant	2835					integral to plasma membrane		g.chr13:27333098G>T	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.867C>A	13.37:g.27333098G>T						GPR12_uc010tdl.1_Silent_p.P130P	p.P289P	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	1089	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	289			Helical; Name=7; (Potential).		Q5T8P3	Silent	SNP	ENST00000381436.2	37	c.867C>A	CCDS9319.1																																																																																				0.522	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			26	24	1	0	1.5548e-18	0.005443	2.39911e-18	26	24				
FLT1	2321	broad.mit.edu	37	13	28964084	28964084	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:28964084C>A	ENST00000282397.4	-	13	2069	c.1818G>T	c.(1816-1818)aaG>aaT	p.K606N	FLT1_ENST00000541932.1_Missense_Mutation_p.K606N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	606	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|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 phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|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 receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.K606N(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCATTTTTTGCTTGCTAATAC	0.413																																							uc001usb.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(1816-1818)AAG>AAT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						305.0	256.0	273.0					13																	28964084		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28964084C>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1818G>T	13.37:g.28964084C>A	ENSP00000282397:p.Lys606Asn					FLT1_uc010aar.1_Missense_Mutation_p.K606N|FLT1_uc001usc.3_Missense_Mutation_p.K606N|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.K89N	p.K606N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	13	2103	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	606			Ig-like C2-type 6.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1818G>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248580	0.22880	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.67171	-0.25;-0.25	6.06	5.12	0.69794	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.225457	0.45867	D	0.000332	T	0.58047	0.2095	L	0.59436	1.845	0.80722	D	1	B;B;B	0.31209	0.313;0.313;0.011	B;B;B	0.32090	0.14;0.14;0.047	T	0.51896	-0.8647	10	0.20046	T	0.44	.	8.026	0.30438	0.0:0.7732:0.0:0.2268	.	606;606;606	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	N	606	ENSP00000282397:K606N;ENSP00000437631:K606N	ENSP00000282397:K606N	K	-	3	2	FLT1	27862084	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.987000	0.40687	2.880000	0.98712	0.650000	0.86243	AAG		0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			40	117	1	0	7.53189e-24	0.007835	1.26314e-23	40	117				
FRY	10129	broad.mit.edu	37	13	32745165	32745165	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:32745165G>A	ENST00000380250.3	+	18	2405	c.1909G>A	c.(1909-1911)Gat>Aat	p.D637N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	637						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D637N(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TATTCATATGGATGATGAATT	0.333																																							uc001utx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1909-1911)GAT>AAT		furry homolog							137.0	126.0	129.0					13																	32745165		1832	4085	5917	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32745165G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1909G>A	13.37:g.32745165G>A	ENSP00000369600:p.Asp637Asn					FRY_uc010tdw.1_RNA	p.D637N	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	18	2405	+		Lung SC(185;0.0271)	637					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.1909G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516803	0.96402	.	.	ENSG00000073910	ENST00000380250	T	0.66460	-0.21	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.84160	0.5411	M	0.87547	2.89	0.80722	D	1	D	0.54397	0.966	D	0.63488	0.915	D	0.84292	0.0500	10	0.49607	T	0.09	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	637	Q5TBA9	FRY_HUMAN	N	637	ENSP00000369600:D637N	ENSP00000369600:D637N	D	+	1	0	FRY	31643165	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	9.350000	0.97070	2.808000	0.96608	0.650000	0.86243	GAT		0.333	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		55	62	0	0	0	0.00361	0	55	62				
KL	9365	broad.mit.edu	37	13	33635064	33635064	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:33635064G>A	ENST00000380099.3	+	4	1856	c.1848G>A	c.(1846-1848)ctG>ctA	p.L616L	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	616	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.L616L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACACCATCCTGCAGTACTATC	0.587																																							uc001uus.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1846-1848)CTG>CTA		klotho precursor							109.0	99.0	102.0					13																	33635064		2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635064G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1848G>A	13.37:g.33635064G>A						KL_uc001uur.1_3'UTR	p.L616L	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	1856	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	616			Glycosyl hydrolase-1 2.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.1848G>A	CCDS9347.1																																																																																				0.587	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			13	65	0	0	0	0.004007	0	13	65				
AKAP11	11215	broad.mit.edu	37	13	42869861	42869861	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:42869861G>T	ENST00000025301.2	+	5	374	c.199G>T	c.(199-201)Gat>Tat	p.D67Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	67					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.D67Y(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGAAGAGACAGATGCTGCTCA	0.348																																							uc001uys.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(199-201)GAT>TAT		A-kinase anchor protein 11							157.0	156.0	156.0					13																	42869861		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42869861G>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.199G>T	13.37:g.42869861G>T	ENSP00000025301:p.Asp67Tyr						p.D67Y	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	5	374	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	67					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.199G>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621454	0.66787	.	.	ENSG00000023516	ENST00000025301	T	0.21031	2.03	5.34	5.34	0.76211	.	0.132803	0.51477	D	0.000087	T	0.41719	0.1171	L	0.50333	1.59	0.41867	D	0.990256	D	0.89917	1.0	D	0.76071	0.987	T	0.20273	-1.0280	10	0.87932	D	0	.	16.1146	0.81295	0.0:0.0:1.0:0.0	.	67	Q9UKA4	AKA11_HUMAN	Y	67	ENSP00000025301:D67Y	ENSP00000025301:D67Y	D	+	1	0	AKAP11	41767861	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.057000	0.57455	2.660000	0.90430	0.655000	0.94253	GAT		0.348	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		37	50	1	0	6.48837e-15	0.010771	9.30617e-15	37	50				
ZC3H13	23091	broad.mit.edu	37	13	46559672	46559672	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:46559672C>T	ENST00000242848.4	-	10	1828	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	ZC3H13_ENST00000282007.3_Missense_Mutation_p.D494N			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	494	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D494N(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTCTGGGATCACGGCTCTCT	0.507																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1480-1482)GAT>AAT		zinc finger CCCH-type containing 13							155.0	153.0	153.0					13																	46559672		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559672C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1480G>A	13.37:g.46559672C>T	ENSP00000242848:p.Asp494Asn					ZC3H13_uc001vas.1_Missense_Mutation_p.D494N|ZC3H13_uc001vat.1_Missense_Mutation_p.D494N	p.D494N	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1486	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	494			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1480G>A		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097731	0.56075	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.49139	1.72;0.79	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000005	T	0.59059	0.2166	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.991;0.997	P;D	0.66196	0.793;0.942	T	0.56335	-0.7996	10	0.44086	T	0.13	.	19.8024	0.96513	0.0:1.0:0.0:0.0	.	494;494	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	N	494;494;310	ENSP00000242848:D494N;ENSP00000282007:D494N	ENSP00000242848:D494N	D	-	1	0	ZC3H13	45457673	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	6.071000	0.71229	2.752000	0.94435	0.655000	0.94253	GAT		0.507	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		81	84	0	0	0	0.00361	0	81	84				
PCDH17	27253	broad.mit.edu	37	13	58207805	58207805	+	Silent	SNP	G	G	T	rs573061386		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:58207805G>T	ENST00000377918.3	+	1	1151	c.1125G>T	c.(1123-1125)cgG>cgT	p.R375R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	375	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R375R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCTGGTGCGGGTCACTGACC	0.731													G|||	1	0.000199681	0.0	0.0	5008	,	,		10968	0.0		0.001	False		,,,				2504	0.0				Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1123-1125)CGG>CGT		protocadherin 17 precursor							21.0	23.0	22.0					13																	58207805		2198	4294	6492	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207805G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1125G>T	13.37:g.58207805G>T						PCDH17_uc010aec.1_Silent_p.R375R	p.R375R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2017	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	375			Extracellular (Potential).|Cadherin 4.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.1125G>T	CCDS31986.1																																																																																				0.731	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		7	26	1	0	2.0095e-06	0.001984	2.34597e-06	7	26				
PCDH9	5101	broad.mit.edu	37	13	67800609	67800609	+	Missense_Mutation	SNP	C	C	G	rs376583062		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:67800609C>G	ENST00000377865.2	-	1	2098	c.1964G>C	c.(1963-1965)cGt>cCt	p.R655P	PCDH9_ENST00000377861.3_Missense_Mutation_p.R655P|PCDH9_ENST00000544246.1_Missense_Mutation_p.R655P|PCDH9_ENST00000328454.5_Missense_Mutation_p.R655P|PCDH9_ENST00000456367.1_Missense_Mutation_p.R655P			Q9HC56	PCDH9_HUMAN	protocadherin 9	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R655P(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGTAGAGGAACGAGGTGGTTG	0.438																																							uc001vik.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1963-1965)CGT>CCT		protocadherin 9 isoform 1 precursor							113.0	98.0	103.0					13																	67800609		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800609C>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1964G>C	13.37:g.67800609C>G	ENSP00000367096:p.Arg655Pro					PCDH9_uc001vil.2_Missense_Mutation_p.R655P|PCDH9_uc010thl.1_Missense_Mutation_p.R655P|PCDH9_uc001vin.3_Missense_Mutation_p.R655P	p.R655P	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2656	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	655			Extracellular (Potential).|Cadherin 6.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1964G>C	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869210	0.91587	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.046304	0.85682	D	0.000000	T	0.74176	0.3682	M	0.90650	3.135	0.80722	D	1	P;P;P;D	0.53462	0.823;0.817;0.781;0.96	P;P;P;P	0.54856	0.587;0.661;0.65;0.762	T	0.79347	-0.1841	10	0.62326	D	0.03	.	19.3757	0.94508	0.0:1.0:0.0:0.0	.	655;655;655;655	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	P	655	ENSP00000442186:R655P;ENSP00000367096:R655P;ENSP00000401699:R655P;ENSP00000332060:R655P;ENSP00000367092:R655P	ENSP00000332060:R655P	R	-	2	0	PCDH9	66698610	1.000000	0.71417	0.637000	0.29366	0.997000	0.91878	7.651000	0.83577	2.814000	0.96858	0.655000	0.94253	CGT		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		13	87	0	0	0	0.001855	0	13	87				
KLHL1	57626	broad.mit.edu	37	13	70456619	70456619	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:70456619T>A	ENST00000377844.4	-	5	1782	c.1023A>T	c.(1021-1023)atA>atT	p.I341I	KLHL1_ENST00000545028.1_Silent_p.I148I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	341					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.I341I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TAACTTCCATTATGTTTTCCT	0.358																																							uc001vip.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1021-1023)ATA>ATT		kelch-like 1 protein							79.0	74.0	75.0					13																	70456619		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70456619T>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1023A>T	13.37:g.70456619T>A						KLHL1_uc010thm.1_Silent_p.I280I	p.I341I	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	5	1817	-		Breast(118;0.000162)	341					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.1023A>T	CCDS9445.1																																																																																				0.358	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		4	27	0	0	0	0.000602	0	4	27				
LMO7	4008	broad.mit.edu	37	13	76397701	76397701	+	Splice_Site	SNP	A	A	G	rs151245949		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:76397701A>G	ENST00000321797.8	+	13	2663	c.1942A>G	c.(1942-1944)Atg>Gtg	p.M648V	LMO7_ENST00000377534.3_Splice_Site_p.M933V|LMO7_ENST00000341547.4_Splice_Site_p.M599V|LMO7_ENST00000465261.2_Splice_Site_p.M648V|LMO7_ENST00000357063.3_Splice_Site_p.M933V|LMO7_ENST00000526202.1_Splice_Site_p.M498V			Q8WWI1	LMO7_HUMAN	LIM domain 7	933					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M933V(1)|p.M648V(1)|p.M599V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCTTATTTAGATGGATGATGC	0.318																																							uc001vjv.2		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(1942-1944)ATG>GTG		LIM domain only 7 isoform 2		A	VAL/MET,VAL/MET	0,4406		0,0,2203	55.0	57.0	56.0		1795,1942	4.7	1.0	13	dbSNP_134	56	3,8597	3.0+/-9.4	0,3,4297	yes	missense-near-splice,missense-near-splice	LMO7	NM_005358.5,NM_015842.2	21,21	0,3,6500	GG,GA,AA		0.0349,0.0,0.0231	benign,benign	599/1350,648/1386	76397701	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76397701A>G	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1942-1A>G	13.37:g.76397701A>G						LMO7_uc010thv.1_Missense_Mutation_p.M599V|LMO7_uc001vjt.1_Missense_Mutation_p.M547V|LMO7_uc010thw.1_Missense_Mutation_p.M498V|LMO7_uc001vjw.1_Missense_Mutation_p.M554V	p.M648V	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	12	2702	+		Breast(118;0.0992)	933					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1942A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.272|9.272	1.045987|1.045987	0.19748|0.19748	0.0|0.0	3.49E-4|3.49E-4	ENSG00000136153|ENSG00000136153	ENST00000447038|ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	.|T;T;T;T;T;T;T	.|0.41065	.|1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.94|5.94	4.73|4.73	0.59995|0.59995	.|.	.|0.180552	.|0.52532	.|N	.|0.000065	T|T	0.40570|0.40570	0.1122|0.1122	L|L	0.59436|0.59436	1.845|1.845	0.37135|0.37135	D|D	0.901461|0.901461	.|P;P;B;B;B	.|0.43287	.|0.702;0.802;0.013;0.451;0.075	.|B;B;B;B;B	.|0.40677	.|0.182;0.337;0.004;0.112;0.018	T|T	0.45585|0.45585	-0.9251|-0.9251	5|9	.|.	.|.	.|.	-10.7628|-10.7628	11.9291|11.9291	0.52837|0.52837	0.8548:0.1452:0.0:0.0|0.8548:0.1452:0.0:0.0	.|.	.|498;599;933;648;881	.|E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.|.;.;LMO7_HUMAN;.;.	G|V	556|599;933;933;547;648;498;648	.|ENSP00000342112:M599V;ENSP00000349571:M933V;ENSP00000366757:M933V;ENSP00000366719:M547V;ENSP00000317802:M648V;ENSP00000431129:M498V;ENSP00000433352:M648V	.|.	D|M	+|+	2|1	0|0	LMO7|LMO7	75295702|75295702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	3.283000|3.283000	0.51701|0.51701	1.033000|1.033000	0.39918|0.39918	0.529000|0.529000	0.55759|0.55759	GAT|ATG		0.318	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	Missense_Mutation	13	50	0	0	0	0.001855	0	13	50				
SLITRK1	114798	broad.mit.edu	37	13	84455264	84455264	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:84455264G>A	ENST00000377084.2	-	1	1264	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	127					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.L127L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCCAGCCCCAGAAAAGTCTGC	0.483																																							uc001vlk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(379-381)CTG>TTG		slit and trk like 1 protein precursor							63.0	68.0	67.0					13																	84455264		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84455264G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.379C>T	13.37:g.84455264G>A							p.L127L	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1265	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	127			Extracellular (Potential).|LRR 3.		Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.379C>T	CCDS9464.1																																																																																				0.483	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		19	107	0	0	0	0.010504	0	19	107				
IPO5	3843	broad.mit.edu	37	13	98658478	98658478	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:98658478A>T	ENST00000490680.1	+	14	1657	c.1592A>T	c.(1591-1593)tAt>tTt	p.Y531F	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.Y406F|IPO5_ENST00000261574.5_Missense_Mutation_p.Y549F			O00410	IPO5_HUMAN	importin 5	531					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.Y549F(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTCCCCTACTATGATTTATTT	0.388																																							uc001vnf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(1591-1593)TAT>TTT		importin 5							130.0	126.0	127.0					13																	98658478		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658478A>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1592A>T	13.37:g.98658478A>T	ENSP00000418393:p.Tyr531Phe					IPO5_uc001vne.2_Missense_Mutation_p.Y549F|IPO5_uc010tik.1_Missense_Mutation_p.Y406F|IPO5_uc010til.1_Missense_Mutation_p.Y471F|IPO5_uc001vng.1_Missense_Mutation_p.Y152F	p.Y531F	NM_002271	NP_002262	O00410	IPO5_HUMAN			14	1657	+			531					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1592A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	31|31	5.104816|5.104816	0.94245|0.94245	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81795|0.81795	0.4898|0.4898	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;1.0;1.0	.|D;D;D	.|0.83275	.|0.942;0.991;0.996	D|D	0.84621|0.84621	0.0684|0.0684	5|10	.|0.87932	.|D	.|0	0.5154|0.5154	15.1685|15.1685	0.72850|0.72850	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|406;531;549	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	L|F	533|549;531;531;406	.|ENSP00000261574:Y549F;ENSP00000350219:Y531F;ENSP00000418393:Y531F;ENSP00000445126:Y406F	.|ENSP00000261574:Y549F	M|Y	+|+	1|2	0|0	IPO5|IPO5	97456479|97456479	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.191000|9.191000	0.94940|0.94940	2.042000|2.042000	0.60477|0.60477	0.377000|0.377000	0.23210|0.23210	ATG|TAT		0.388	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		43	163	0	0	0	0.010771	0	43	163				
FARP1	10160	broad.mit.edu	37	13	99092992	99092992	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:99092992C>G	ENST00000319562.6	+	24	2963	c.2698C>G	c.(2698-2700)Ctg>Gtg	p.L900V	FARP1_ENST00000595437.1_Missense_Mutation_p.L931V|FARP1_ENST00000376586.2_Missense_Mutation_p.L931V	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	900					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L900V(1)|p.L931V(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCGCACATCGCTGGAGCGCCA	0.632																																							uc001vnj.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(2698-2700)CTG>GTG		FERM, RhoGEF, and pleckstrin domain protein 1							48.0	44.0	46.0					13																	99092992		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99092992C>G	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2698C>G	13.37:g.99092992C>G	ENSP00000322926:p.Leu900Val					FARP1_uc001vnh.2_Missense_Mutation_p.L931V	p.L900V	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		24	3034	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		900					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.2698C>G	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239574	0.79800	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.12774	2.65;2.65	5.43	4.58	0.56647	.	0.896444	0.09331	N	0.816827	T	0.33000	0.0848	M	0.64997	1.995	0.58432	D	0.999997	P;P	0.51933	0.932;0.949	B;D	0.63283	0.278;0.913	T	0.00250	-1.1878	10	0.51188	T	0.08	.	10.7089	0.45971	0.0:0.8534:0.0:0.1466	.	900;931	Q9Y4F1;C9JME2	FARP1_HUMAN;.	V	931;900	ENSP00000365771:L931V;ENSP00000322926:L900V	ENSP00000322926:L900V	L	+	1	2	FARP1	97890993	0.986000	0.35501	1.000000	0.80357	0.843000	0.47879	2.717000	0.47227	1.284000	0.44531	0.655000	0.94253	CTG		0.632	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		8	25	0	0	0	0.00308	0	8	25				
CHAMP1	283489	broad.mit.edu	37	13	115090570	115090570	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:115090570A>C	ENST00000361283.1	+	3	1562	c.1253A>C	c.(1252-1254)gAg>gCg	p.E418A		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	418	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E418A(1)									GTGTCTCCAGAGCTTCGCAAA	0.557																																							uc010ahb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1252-1254)GAG>GCG		zinc finger protein 828							74.0	79.0	78.0					13																	115090570		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090570A>C	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1253A>C	13.37:g.115090570A>C	ENSP00000354730:p.Glu418Ala					ZNF828_uc001vuv.2_Missense_Mutation_p.E418A|ZNF828_uc010tko.1_Missense_Mutation_p.E418A	p.E418A	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	1582	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	418			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1253A>C	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579827	0.46006	.	.	ENSG00000198824	ENST00000361283	T	0.01838	4.61	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000011	T	0.11024	0.0269	M	0.65498	2.005	0.34557	D	0.711963	D	0.76494	0.999	D	0.75484	0.986	T	0.10382	-1.0632	9	.	.	.	-14.7444	15.3348	0.74244	1.0:0.0:0.0:0.0	.	418	Q96JM3	ZN828_HUMAN	A	418	ENSP00000354730:E418A	.	E	+	2	0	ZNF828	114108672	0.996000	0.38824	1.000000	0.80357	0.821000	0.46438	3.823000	0.55715	2.033000	0.60031	0.533000	0.62120	GAG		0.557	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		5	95	0	0	0	0.001168	0	5	95				
POTEM	641455	broad.mit.edu	37	14	20020002	20020002	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:20020002C>A	ENST00000551509.1	-	1	270	c.219G>T	c.(217-219)agG>agT	p.R73S		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	73								p.R73S(2)		endometrium(4)|kidney(1)|lung(4)	9						TGCCGCTCCCCCTGCACCAGG	0.582																																							uc001vwc.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(217-219)AGG>AGT		prostate-specific P704P							11.0	20.0	18.0					14																	20020002		311	1125	1436	SO:0001583	missense	641455							g.chr14:20020002C>A		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.219G>T	14.37:g.20020002C>A	ENSP00000452296:p.Arg73Ser					P704P_uc001vwb.3_RNA	p.R73S	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN			1	271	-			73						Missense_Mutation	SNP	ENST00000551509.1	37	c.219G>T	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	c	9.062	0.994699	0.19043	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.30714	1.52	.	.	.	.	.	.	.	.	T	0.26159	0.0638	L	0.59436	1.845	0.09310	N	1	P	0.43788	0.817	B	0.38500	0.275	T	0.11275	-1.0594	6	.	.	.	.	.	.	.	.	73	A6NI47	POTEM_HUMAN	S	73	ENSP00000452296:R73S	.	R	-	3	2	POTEM	19090002	0.000000	0.05858	0.010000	0.14722	0.128000	0.20619	-1.738000	0.01842	0.483000	0.27608	0.152000	0.16155	AGG		0.582	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		111	386	1	0	1.56149e-49	0.00361	2.97672e-49	111	386				
OR4N5	390437	broad.mit.edu	37	14	20612049	20612049	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:20612049A>T	ENST00000333629.1	+	1	155	c.155A>T	c.(154-156)gAc>gTc	p.D52V	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D52V(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ATAAAGTCAGACCCTGGGCTC	0.463																																							uc010tla.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(154-156)GAC>GTC		olfactory receptor, family 4, subfamily N,							207.0	211.0	210.0					14																	20612049		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612049A>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.155A>T	14.37:g.20612049A>T	ENSP00000332110:p.Asp52Val						p.D52V	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	155	+	all_cancers(95;0.00108)		52			Cytoplasmic (Potential).		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.155A>T	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	A	9.109	1.006027	0.19199	.	.	ENSG00000184394	ENST00000333629	T	0.02944	4.1	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000463	T	0.16041	0.0386	M	0.87682	2.9	0.21184	N	0.999763	D	0.89917	1.0	D	0.91635	0.999	T	0.01879	-1.1255	10	0.72032	D	0.01	.	11.1667	0.48547	1.0:0.0:0.0:0.0	.	52	Q8IXE1	OR4N5_HUMAN	V	52	ENSP00000332110:D52V	ENSP00000332110:D52V	D	+	2	0	OR4N5	19681889	0.000000	0.05858	0.670000	0.29842	0.010000	0.07245	0.084000	0.14891	1.797000	0.52628	0.528000	0.53228	GAC		0.463	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			104	342	0	0	0	0.00361	0	104	342				
PNP	4860	broad.mit.edu	37	14	20943064	20943064	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:20943064G>T	ENST00000361505.5	+	4	564	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.G140C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CAACCTACCTGGTTTCAGTGG	0.483																																							uc001vxo.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(418-420)GGT>TGT		nucleoside phosphorylase	Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)						97.0	89.0	92.0					14																	20943064		2203	4300	6503	SO:0001583	missense	4860				immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	g.chr14:20943064G>T		CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.418G>T	14.37:g.20943064G>T	ENSP00000354532:p.Gly140Cys					PNP_uc010ahn.2_3'UTR|PNP_uc001vxn.3_Missense_Mutation_p.G11C	p.G140C	NM_000270	NP_000261	P00491	PNPH_HUMAN			4	560	+			140						Missense_Mutation	SNP	ENST00000361505.5	37	c.418G>T	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043435	0.93685	.	.	ENSG00000198805	ENST00000361505;ENST00000554469;ENST00000553591;ENST00000554065	D;D;D	0.98996	-3.42;-3.42;-5.31	6.03	6.03	0.97812	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99548	1.0965	10	0.72032	D	0.01	-22.4459	19.3283	0.94273	0.0:0.0:1.0:0.0	.	140	P00491	PNPH_HUMAN	C	140;72;179;61	ENSP00000354532:G140C;ENSP00000452421:G179C;ENSP00000451108:G61C	ENSP00000354532:G140C	G	+	1	0	PNP	20012904	1.000000	0.71417	0.988000	0.46212	0.956000	0.61745	9.220000	0.95180	2.861000	0.98227	0.655000	0.94253	GGT		0.483	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2	NM_000270.2		32	93	1	0	2.09667e-21	0.003755	3.43215e-21	32	93				
ATL1	51062	broad.mit.edu	37	14	51087337	51087337	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:51087337A>T	ENST00000358385.6	+	9	1124	c.883A>T	c.(883-885)Aaa>Taa	p.K295*	ATL1_ENST00000441560.2_Nonsense_Mutation_p.K295*|ATL1_ENST00000357032.3_Nonsense_Mutation_p.K295*|ATL1_ENST00000354525.4_Nonsense_Mutation_p.K295*	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	295	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.N296fs*2(1)|p.K295*(1)		central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TGAATTCATCAAAAACTTGAA	0.378																																							uc001wyf.3		NA																	2	Substitution - Nonsense(1)|Deletion - Frameshift(1)		large_intestine(1)|lung(1)	skin(3)|central_nervous_system(1)	4						c.(883-885)AAA>TAA		atlastin GTPase 1 isoform a							73.0	75.0	74.0					14																	51087337		2203	4300	6503	SO:0001587	stop_gained	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51087337A>T	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.883A>T	14.37:g.51087337A>T	ENSP00000351155:p.Lys295*					ATL1_uc001wyd.3_Nonsense_Mutation_p.K295*|ATL1_uc001wye.3_Nonsense_Mutation_p.K295*	p.K295*	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN			9	1124	+			295			Cytoplasmic.		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Nonsense_Mutation	SNP	ENST00000358385.6	37	c.883A>T	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	A	39	7.595701	0.98381	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	.	.	.	5.84	5.84	0.93424	.	0.040071	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-18.7796	15.3978	0.74812	1.0:0.0:0.0:0.0	.	.	.	.	X	295	.	ENSP00000346522:K295X	K	+	1	0	ATL1	50157087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.096000	0.64535	2.231000	0.72958	0.533000	0.62120	AAA		0.378	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			8	124	0	0	0	0.008291	0	8	124				
SAMD4A	23034	broad.mit.edu	37	14	55243227	55243227	+	Silent	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:55243227C>G	ENST00000554335.1	+	11	2676	c.2013C>G	c.(2011-2013)tcC>tcG	p.S671S	SAMD4A_ENST00000392067.3_Silent_p.S671S|SAMD4A_ENST00000357634.3_Silent_p.S670S|SAMD4A_ENST00000251091.5_Silent_p.S583S|SAMD4A_ENST00000555192.1_Silent_p.S262S			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	671					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.S670S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGCACACTTCCCCACAGAACA	0.612																																							uc001xbb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2008-2010)TCC>TCG		sterile alpha motif domain containing 4 isoform							99.0	106.0	104.0					14																	55243227		2203	4300	6503	SO:0001819	synonymous_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55243227C>G	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.2013C>G	14.37:g.55243227C>G						SAMD4A_uc001xbc.2_Silent_p.S582S|SAMD4A_uc001xbg.2_Silent_p.S262S	p.S670S	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN			10	2011	+			671					A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	c.2010C>G	CCDS32084.2																																																																																				0.612	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		59	279	0	0	0	0.00361	0	59	279				
DACT1	51339	broad.mit.edu	37	14	59112601	59112601	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:59112601G>A	ENST00000335867.4	+	4	1284	c.1260G>A	c.(1258-1260)tcG>tcA	p.S420S	DACT1_ENST00000541264.2_Silent_p.S139S|DACT1_ENST00000556859.1_Silent_p.S139S|DACT1_ENST00000395153.3_Silent_p.S383S			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	420					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.S420S(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGCAGTGGTCGAAAGAATCAA	0.567																																							uc001xdw.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(2)|ovary(1)	5						c.(1258-1260)TCG>TCA		dapper 1 isoform 1							53.0	58.0	56.0					14																	59112601		2203	4300	6503	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112601G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1260G>A	14.37:g.59112601G>A						DACT1_uc010trv.1_Silent_p.S139S|DACT1_uc001xdx.2_Silent_p.S383S|DACT1_uc010trw.1_Silent_p.S139S	p.S420S	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1424	+			420					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.1260G>A	CCDS9736.1																																																																																				0.567	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		8	90	0	0	0	0.008291	0	8	90				
PRKCH	5583	broad.mit.edu	37	14	61915900	61915900	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:61915900A>G	ENST00000332981.5	+	5	1017	c.632A>G	c.(631-633)cAt>cGt	p.H211R	PRKCH_ENST00000555082.1_Missense_Mutation_p.H50R	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	211					blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.H211R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGTGTCGTCCATAAACGCTGC	0.413																																					Melanoma(135;863 1779 8064 14443 26348)	Melanoma(135;863 1779 8064 14443 26348)	uc001xfn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6						c.(631-633)CAT>CGT		protein kinase C, eta							195.0	169.0	178.0					14																	61915900		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61915900A>G	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.632A>G	14.37:g.61915900A>G	ENSP00000329127:p.His211Arg					PRKCH_uc010tsa.1_Missense_Mutation_p.H50R	p.H211R	NM_006255	NP_006246	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	5	937	+			211			Phorbol-ester/DAG-type 1.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.632A>G	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528041	0.85706	.	.	ENSG00000027075	ENST00000556778;ENST00000555906;ENST00000332981;ENST00000555082;ENST00000553831;ENST00000553265;ENST00000556164;ENST00000557585;ENST00000557473	D;D;D;D;D;D;D;D;D	0.99557	-6.16;-6.16;-6.16;-6.16;-6.16;-6.16;-6.16;-6.16;-6.16	5.76	5.76	0.90799	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.64402	D	0.000001	D	0.99866	0.9937	H	0.99909	4.93	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.96132	0.9093	10	0.87932	D	0	.	16.0816	0.81007	1.0:0.0:0.0:0.0	.	211	P24723	KPCL_HUMAN	R	50;50;211;50;50;50;50;50;50	ENSP00000452055:H50R;ENSP00000451205:H50R;ENSP00000329127:H211R;ENSP00000450981:H50R;ENSP00000450959:H50R;ENSP00000451933:H50R;ENSP00000452330:H50R;ENSP00000451930:H50R;ENSP00000452528:H50R	ENSP00000329127:H211R	H	+	2	0	PRKCH	60985653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.278000	0.95766	2.211000	0.71520	0.454000	0.30748	CAT		0.413	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		43	129	0	0	0	0.00361	0	43	129				
NRXN3	9369	broad.mit.edu	37	14	79181120	79181120	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:79181120G>T	ENST00000554719.1	+	5	1054	c.563G>T	c.(562-564)aGg>aTg	p.R188M	NRXN3_ENST00000335750.5_Missense_Mutation_p.R188M	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.R188M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTGAACAGCAGGCGCACGCCA	0.552																																							uc001xun.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(562-564)AGG>ATG		neurexin 3 isoform 1 precursor							131.0	141.0	138.0					14																	79181120		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79181120G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.563G>T	14.37:g.79181120G>T	ENSP00000451648:p.Arg188Met					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R322M	p.R188M	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1054	+		Renal(4;0.00876)	561			Extracellular (Potential).|Laminin G-like 3.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.563G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933635	0.34096	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.78595	-1.19;-1.19	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.101427	0.64402	D	0.000012	D	0.86243	0.5886	.	.	.	0.36109	D	0.84469	D;B	0.69078	0.997;0.06	D;B	0.67900	0.954;0.026	D	0.88976	0.3404	8	.	.	.	.	13.3273	0.60467	0.072:0.0:0.928:0.0	.	561;188	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	M	561;559;188;188	ENSP00000451648:R188M;ENSP00000338349:R188M	.	R	+	2	0	NRXN3	78250873	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.955000	0.63638	2.764000	0.94973	0.555000	0.69702	AGG		0.552	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		98	295	1	0	1.45855e-51	0.00361	2.80891e-51	98	295				
IFI27L1	122509	broad.mit.edu	37	14	94568239	94568239	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:94568239A>T	ENST00000555523.1	+	4	360	c.141A>T	c.(139-141)gcA>gcT	p.A47A	IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.S70C|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000554562.1_Silent_p.A47A|IFI27L1_ENST00000556381.1_Silent_p.A46A|IFI27L1_ENST00000393115.3_Silent_p.A47A|IFI27L1_ENST00000553350.1_Intron	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	47						integral component of membrane (GO:0016021)		p.A47A(1)		lung(2)	2						CCTCCATAGCAGCCAAGATGA	0.587																																							uc001ycl.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(139-141)GCA>GCT		interferon, alpha-inducible protein 27-like 1							119.0	95.0	103.0					14																	94568239		2203	4300	6503	SO:0001819	synonymous_variant	122509					integral to membrane		g.chr14:94568239A>T	BC015423	CCDS9919.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000165948			19754	protein-coding gene	gene with protein product		611320	"""family with sequence similarity 14, member B"""	FAM14B			Standard	NM_145249		Approved		uc001yck.3	Q96BM0		ENST00000555523.1:c.141A>T	14.37:g.94568239A>T						IFI27L1_uc001yck.2_Silent_p.A47A	p.A47A	NM_206949	NP_996832	Q96BM0	I27L1_HUMAN			4	349	+			47						Silent	SNP	ENST00000555523.1	37	c.141A>T	CCDS9919.1	.	.	.	.	.	.	.	.	.	.	A	5.885	0.347413	0.11126	.	.	ENSG00000165948	ENST00000553664	.	.	.	3.48	-6.96	0.01622	.	.	.	.	.	T	0.34077	0.0885	.	.	.	0.43652	D	0.996069	.	.	.	.	.	.	T	0.36792	-0.9733	4	.	.	.	.	0.8638	0.01199	0.3841:0.1176:0.1437:0.3546	.	.	.	.	C	70	.	.	S	+	1	0	IFI27L1	93637992	0.000000	0.05858	0.025000	0.17156	0.003000	0.03518	-3.685000	0.00393	-2.061000	0.00892	-0.462000	0.05337	AGC		0.587	IFI27L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412868.1	NM_206949		55	34	0	0	0	0.00361	0	55	34				
SERPINA5	5104	broad.mit.edu	37	14	95057199	95057199	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:95057199G>T	ENST00000554866.1	+	4	1118	c.1004G>T	c.(1003-1005)gGc>gTc	p.G335V	RP11-986E7.7_ENST00000553947.1_5'Flank|SERPINA5_ENST00000553780.1_Missense_Mutation_p.G335V|SERPINA5_ENST00000329597.7_Missense_Mutation_p.G335V|SERPINA5_ENST00000554276.1_Missense_Mutation_p.G335V			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	335				G -> R (in Ref. 1; AAA35688 and 9; AAB26244). {ECO:0000305}.	fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G335V(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GATCTGTCCGGCATCAGCAAC	0.488																																							uc001ydm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1003-1005)GGC>GTC		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						107.0	92.0	97.0					14																	95057199		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95057199G>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1004G>T	14.37:g.95057199G>T	ENSP00000451126:p.Gly335Val					SERPINA3_uc001ydo.3_5'Flank	p.G335V	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	5	1214	+			335	G -> R (in Ref. 1; AAA35688 and 9; AAB26244).				Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.1004G>T	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389640	0.42410	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000554506;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.17	4.17	0.49024	Serpin domain (3);	0.091563	0.46145	D	0.000301	D	0.94561	0.8248	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96281	0.9206	10	0.87932	D	0	.	16.3559	0.83235	0.0:0.0:1.0:0.0	.	335	P05154	IPSP_HUMAN	V	335;335;335;111;187;259;335	ENSP00000450837:G335V;ENSP00000451126:G335V;ENSP00000333203:G335V;ENSP00000451610:G335V	ENSP00000333203:G335V	G	+	2	0	SERPINA5	94126952	1.000000	0.71417	0.102000	0.21198	0.018000	0.09664	8.200000	0.89733	2.273000	0.75805	0.561000	0.74099	GGC		0.488	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		83	51	1	0	1.84514e-49	0.00361	3.50856e-49	83	51				
TCL1A	8115	broad.mit.edu	37	14	96178706	96178706	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:96178706G>A	ENST00000402399.1	-	2	277	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	TCL1A_ENST00000554012.1_Missense_Mutation_p.L50F|TCL1A_ENST00000555202.1_Missense_Mutation_p.L50F|RP11-164H13.1_ENST00000553445.1_RNA|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000556450.1_Missense_Mutation_p.L50F	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	50					multicellular organismal development (GO:0007275)|stem cell maintenance (GO:0019827)	cell cortex (GO:0005938)|endoplasmic reticulum (GO:0005783)|pronucleus (GO:0045120)		p.L50F(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CGACGCAAGAGCACCCGTAAC	0.572			T	TRA@	T-CLL																																Ovarian(96;1068 2019 35393 39316)	Ovarian(96;1068 2019 35393 39316)	uc001yfc.3		NA		Dom	yes		14	14q32.1	8115	T	T-cell leukemia/lymphoma 1A			L	TRA@		T-CLL		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(148-150)CTC>TTC		T-cell leukemia/lymphoma 1A							73.0	78.0	76.0					14																	96178706		2203	4300	6503	SO:0001583	missense	8115				multicellular organismal development	endoplasmic reticulum|microsome		g.chr14:96178706G>A	X82240	CCDS9941.1	14q32.1	2008-07-03				ENSG00000100721			11648	protein-coding gene	gene with protein product		186960				2783489, 7809072	Standard	NM_021966		Approved	TCL1	uc001yfb.4	P56279		ENST00000402399.1:c.148C>T	14.37:g.96178706G>A	ENSP00000385036:p.Leu50Phe					TCL1A_uc001yfb.3_Missense_Mutation_p.L50F	p.L50F	NM_001098725	NP_001092195	P56279	TCL1A_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	2	278	-		all_cancers(154;0.103)	50					Q6IBK7	Missense_Mutation	SNP	ENST00000402399.1	37	c.148C>T	CCDS9941.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.629|9.629	1.135844|1.135844	0.21123|0.21123	.|.	.|.	ENSG00000100721|ENSG00000100721	ENST00000557043|ENST00000554012;ENST00000402399;ENST00000556450;ENST00000555202	.|T;T;T;T	.|0.32753	.|1.44;1.44;1.44;1.44	3.61|3.61	-1.43|-1.43	0.08884|0.08884	.|.	.|0.592258	.|0.14731	.|N	.|0.301735	T|T	0.16769|0.16769	0.0403|0.0403	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	.|B	.|0.32031	.|0.352	.|B	.|0.30716	.|0.119	T|T	0.13361|0.13361	-1.0512|-1.0512	5|10	.|0.33141	.|T	.|0.24	-28.2661|-28.2661	1.8855|1.8855	0.03237|0.03237	0.1117:0.3149:0.3163:0.2571|0.1117:0.3149:0.3163:0.2571	.|.	.|50	.|P56279	.|TCL1A_HUMAN	V|F	24|50	.|ENSP00000451506:L50F;ENSP00000385036:L50F;ENSP00000450701:L50F;ENSP00000450496:L50F	.|ENSP00000385036:L50F	A|L	-|-	2|1	0|0	TCL1A|TCL1A	95248459|95248459	0.105000|0.105000	0.21958|0.21958	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	0.209000|0.209000	0.17435|0.17435	-0.261000|-0.261000	0.09405|0.09405	-0.448000|-0.448000	0.05591|0.05591	GCT|CTC		0.572	TCL1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413246.1			17	135	0	0	0	0.006122	0	17	135				
SETD3	84193	broad.mit.edu	37	14	99925494	99925494	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:99925494C>T	ENST00000331768.5	-	5	533	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000436070.2_Missense_Mutation_p.R125Q|SETD3_ENST00000329331.3_Missense_Mutation_p.R125Q	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	125	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.R125Q(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TAGCAATTTTCGTGGAACCCA	0.343																																							uc001ygc.2		NA																	2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)		0						c.(373-375)CGA>CAA		SET domain containing 3 isoform a							112.0	117.0	116.0					14																	99925494		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99925494C>T	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.374G>A	14.37:g.99925494C>T	ENSP00000327436:p.Arg125Gln					SETD3_uc001ygd.2_Missense_Mutation_p.R125Q|SETD3_uc001ygf.2_Missense_Mutation_p.R125Q	p.R125Q	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN			5	544	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	125			SET.		A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.374G>A	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	35	5.429678	0.96131	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	D;D;D	0.82081	-1.57;-1.57;-1.57	5.47	5.47	0.80525	SET domain (1);	0.000000	0.85682	D	0.000000	D	0.89139	0.6630	L	0.49126	1.545	0.80722	D	1	P;D;D	0.89917	0.943;0.999;1.0	P;D;D	0.79108	0.467;0.948;0.992	D	0.87806	0.2628	10	0.42905	T	0.14	-22.5163	19.6977	0.96034	0.0:1.0:0.0:0.0	.	125;125;125	Q6NXR6;A0PJU3;Q86TU7	.;.;SETD3_HUMAN	Q	125	ENSP00000327436:R125Q;ENSP00000327910:R125Q;ENSP00000408602:R125Q	ENSP00000327910:R125Q	R	-	2	0	SETD3	98995247	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.719000	0.84751	2.720000	0.93068	0.557000	0.71058	CGA		0.343	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		4	184	0	0	0	0.009096	0	4	184				
RYR3	6263	broad.mit.edu	37	15	34064146	34064146	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:34064146C>A	ENST00000389232.4	+	63	8912	c.8842C>A	c.(8842-8844)Ctg>Atg	p.L2948M	RYR3_ENST00000415757.3_Missense_Mutation_p.L2948M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2948					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)	p.L2948M(1)		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)		AGGCTCAGAGCTGGTGAAGGC	0.448																																							uc001zhi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8842-8844)CTG>ATG		ryanodine receptor 3							53.0	51.0	51.0					15																	34064146		1915	4142	6057	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34064146C>A		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.8842C>A	15.37:g.34064146C>A	ENSP00000373884:p.Leu2948Met					RYR3_uc010bar.2_Missense_Mutation_p.L2948M	p.L2948M	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)	63	8912	+		all_lung(180;7.18e-09)	2948			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8842C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645420	0.47258	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96651	-4.08;-4.08	5.64	5.64	0.86602	.	0.241045	0.32503	N	0.006016	D	0.95494	0.8536	L	0.36672	1.1	0.38649	D	0.951806	P;P	0.48503	0.911;0.904	P;P	0.52710	0.562;0.707	D	0.95254	0.8362	10	0.45353	T	0.12	.	14.7001	0.69150	0.1448:0.8552:0.0:0.0	.	2948;2948	Q15413-2;Q15413	.;RYR3_HUMAN	M	2948	ENSP00000373884:L2948M;ENSP00000399610:L2948M	ENSP00000354735:L2948M	L	+	1	2	RYR3	31851438	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.483000	0.35497	2.937000	0.99478	0.650000	0.86243	CTG		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	5	1	0	0.000157383	0.00308	0.000175051	7	5				
SLC12A6	9990	broad.mit.edu	37	15	34530465	34530465	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:34530465T>A	ENST00000354181.3	-	21	3262	c.2770A>T	c.(2770-2772)Atg>Ttg	p.M924L	SLC12A6_ENST00000560164.1_Missense_Mutation_p.M736L|SLC12A6_ENST00000397702.2_Missense_Mutation_p.M865L|SLC12A6_ENST00000558589.1_Missense_Mutation_p.M915L|SLC12A6_ENST00000458406.2_Missense_Mutation_p.M865L|SLC12A6_ENST00000558667.1_Missense_Mutation_p.M924L|SLC12A6_ENST00000397707.2_Missense_Mutation_p.M909L|SLC12A6_ENST00000451844.2_Missense_Mutation_p.M736L|SLC12A6_ENST00000290209.5_Missense_Mutation_p.M873L|SLC12A6_ENST00000560611.1_Missense_Mutation_p.M924L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	924					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.M873L(1)|p.M915L(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GGTAGTAGCATAAGCATCCCC	0.423																																							uc001zhw.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(1)|skin(1)	7						c.(2770-2772)ATG>TTG		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						187.0	163.0	171.0					15																	34530465		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34530465T>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2770A>T	15.37:g.34530465T>A	ENSP00000346112:p.Met924Leu					SLC12A6_uc001zhv.2_Missense_Mutation_p.M873L|SLC12A6_uc001zhx.2_Missense_Mutation_p.M909L|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.M865L|SLC12A6_uc001zib.2_Missense_Mutation_p.M915L|SLC12A6_uc001zic.2_Missense_Mutation_p.M924L|SLC12A6_uc010bau.2_Missense_Mutation_p.M924L|SLC12A6_uc001zid.2_Missense_Mutation_p.M865L|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.M736L	p.M924L	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	20	2934	-		all_lung(180;2.78e-08)	924			Helical; (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.2770A>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207617	0.58343	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	L	0.41906	1.305	0.80722	D	1	B;B;B;B	0.22800	0.075;0.014;0.042;0.0	B;B;B;B	0.21546	0.035;0.005;0.01;0.012	T	0.74147	-0.3759	10	0.44086	T	0.13	.	14.1098	0.65115	0.0:0.0:0.0:1.0	.	909;924;873;736	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	L	873;909;915;865;865;736	ENSP00000290209:M873L;ENSP00000380819:M909L;ENSP00000380814:M865L;ENSP00000387725:M865L;ENSP00000390199:M736L	ENSP00000290209:M873L	M	-	1	0	SLC12A6	32317757	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.868000	0.87116	2.160000	0.67779	0.533000	0.62120	ATG		0.423	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		21	44	0	0	0	0.00333	0	21	44				
SPTBN5	51332	broad.mit.edu	37	15	42168805	42168805	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:42168805T>A	ENST00000320955.6	-	20	4119	c.3892A>T	c.(3892-3894)Agg>Tgg	p.R1298W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1298					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.R1298W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCTGGAGCCTGGTCCACTGT	0.662																																							uc001zos.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3787-3789)AGG>TGG		spectrin, beta, non-erythrocytic 5							30.0	34.0	33.0					15																	42168805		2046	4182	6228	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42168805T>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3892A>T	15.37:g.42168805T>A	ENSP00000317790:p.Arg1298Trp						p.R1263W	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	20	4120	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1298			Spectrin 9.			Missense_Mutation	SNP	ENST00000320955.6	37	c.3787A>T		.	.	.	.	.	.	.	.	.	.	.	17.79	3.475383	0.63737	.	.	ENSG00000137877	ENST00000320955	T	0.51574	0.7	5.03	-0.515	0.11954	.	0.140447	0.45126	D	0.000384	T	0.58177	0.2104	M	0.70595	2.14	0.18873	N	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.47898	-0.9081	10	0.72032	D	0.01	.	4.1824	0.10381	0.0:0.1935:0.3475:0.4589	.	1298	Q9NRC6	SPTN5_HUMAN	W	1298	ENSP00000317790:R1298W	ENSP00000317790:R1298W	R	-	1	2	SPTBN5	39956097	0.001000	0.12720	0.774000	0.31636	0.671000	0.39405	0.090000	0.15025	-0.044000	0.13491	0.402000	0.26972	AGG		0.662	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		3	11	0	0	0	0.004672	0	3	11				
TP53BP1	7158	broad.mit.edu	37	15	43771675	43771676	+	Missense_Mutation	DNP	CT	CT	TA			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:43771675_43771676CT>TA	ENST00000263801.3	-	7	944_945	c.692_693AG>TA	c.(691-693)cAG>cTA	p.Q231L	TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q236L|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q236L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q236L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	231					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.Q231L(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCTTGCTGGACTGTTCTGCTAT	0.401								Other conserved DNA damage response genes																															uc001zrs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(691-693)CAG>CTA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3																																				SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43771675_43771676CT>TA	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.692_693delinsTA	15.37:g.43771675_43771676delinsTA	ENSP00000263801:p.Gln231Leu					TP53BP1_uc010udp.1_Missense_Mutation_p.Q231L|TP53BP1_uc001zrq.3_Missense_Mutation_p.Q236L|TP53BP1_uc001zrr.3_Missense_Mutation_p.Q236L|TP53BP1_uc010udq.1_Missense_Mutation_p.Q236L	p.Q231L	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	7	840_841	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	231					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	DNP	ENST00000263801.3	37	c.692_693AG>TA	CCDS10096.1																																																																																				0.401	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			80	100	0	0	0	0.004672	0	80	100				
TRIM69	140691	broad.mit.edu	37	15	45047534	45047534	+	Missense_Mutation	SNP	A	A	G	rs2470912		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:45047534A>G	ENST00000559390.1	+	3	1371	c.443A>G	c.(442-444)aAg>aGg	p.K148R	TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000329464.4_Missense_Mutation_p.K148R|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000338264.4_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	148	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K148R(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GGGCAGTCTAAGGAGTTCCTG	0.468																																					Pancreas(84;519 1450 1802 20427 34706)	Pancreas(84;519 1450 1802 20427 34706)	uc001zuf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(442-444)AAG>AGG		tripartite motif-containing 69 isoform a							65.0	64.0	64.0					15																	45047534		2198	4298	6496	SO:0001583	missense	140691				apoptosis	nuclear speck	zinc ion binding	g.chr15:45047534A>G	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.443A>G	15.37:g.45047534A>G	ENSP00000453177:p.Lys148Arg					TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.K148R|TRIM69_uc001zuh.1_Intron	p.K148R	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	3	1338	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	148			Necessary for nuclear localization (By similarity).		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.443A>G	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842996	0.51057	.	.	ENSG00000185880	ENST00000329464	T	0.38240	1.15	5.32	4.12	0.48240	.	0.182943	0.37857	N	0.001913	T	0.25531	0.0621	L	0.51422	1.61	0.24187	N	0.995568	P	0.42010	0.768	B	0.31442	0.13	T	0.20240	-1.0281	10	0.25751	T	0.34	.	10.3557	0.43962	0.8355:0.1645:0.0:0.0	.	148	Q86WT6	TRI69_HUMAN	R	148	ENSP00000332284:K148R	ENSP00000332284:K148R	K	+	2	0	TRIM69	42834826	0.943000	0.32029	1.000000	0.80357	0.990000	0.78478	1.143000	0.31553	2.139000	0.66308	0.460000	0.39030	AAG		0.468	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			17	44	0	0	0	0.008871	0	17	44				
SLC24A5	283652	broad.mit.edu	37	15	48427124	48427124	+	Missense_Mutation	SNP	C	C	G	rs556168142		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:48427124C>G	ENST00000341459.3	+	5	606	c.533C>G	c.(532-534)gCg>gGg	p.A178G	SLC24A5_ENST00000449382.2_Missense_Mutation_p.A118G	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	178					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.A178G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GACTGTGCAGCGTACACAATT	0.333																																							uc001zwe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(532-534)GCG>GGG		solute carrier family 24, member 5 precursor							89.0	86.0	87.0					15																	48427124		2198	4296	6494	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48427124C>G	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.533C>G	15.37:g.48427124C>G	ENSP00000341550:p.Ala178Gly					SLC24A5_uc010bel.2_Missense_Mutation_p.A118G|uc001zwf.1_RNA	p.A178G	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	5	606	+		all_lung(180;0.00217)	178			Helical; Name=4; (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.533C>G	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835177	0.71373	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.63913	-0.07;-0.07	5.56	4.64	0.57946	Sodium/calcium exchanger membrane region (1);	0.048680	0.85682	D	0.000000	T	0.78489	0.4291	M	0.85630	2.765	0.53688	D	0.999977	D;D	0.65815	0.995;0.985	P;P	0.61275	0.886;0.886	T	0.82356	-0.0498	10	0.66056	D	0.02	.	13.7817	0.63087	0.0:0.9252:0.0:0.0748	.	118;178	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	G	178;118	ENSP00000341550:A178G;ENSP00000389966:A118G	ENSP00000341550:A178G	A	+	2	0	SLC24A5	46214416	1.000000	0.71417	0.524000	0.27887	0.910000	0.53928	5.493000	0.66899	1.459000	0.47892	0.655000	0.94253	GCG		0.333	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		18	39	0	0	0	0.012319	0	18	39				
TNFAIP8L3	388121	broad.mit.edu	37	15	51397328	51397328	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:51397328A>G	ENST00000327536.5	-	1	145	c.46T>C	c.(46-48)Tgt>Cgt	p.C16R	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	16								p.C16R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TCTGCCTCACAGAGTGTGGAA	0.512																																							uc001zyy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(46-48)TGT>CGT		tumor necrosis factor, alpha-induced protein							247.0	201.0	217.0					15																	51397328		2196	4293	6489	SO:0001583	missense	388121							g.chr15:51397328A>G	AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.46T>C	15.37:g.51397328A>G	ENSP00000328016:p.Cys16Arg						p.C16R	NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN		all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)	1	146	-			16					Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	37	c.46T>C	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781830	0.31502	.	.	ENSG00000183578	ENST00000327536	T	0.30448	1.53	3.16	1.97	0.26223	.	1.943740	0.03441	N	0.209271	T	0.18002	0.0432	N	0.08118	0	0.18873	N	0.999987	B	0.27229	0.172	B	0.23574	0.047	T	0.25152	-1.0140	10	0.87932	D	0	.	5.4488	0.16550	0.7508:0.0:0.0:0.2492	.	16	Q5GJ75	TP8L3_HUMAN	R	16	ENSP00000328016:C16R	ENSP00000328016:C16R	C	-	1	0	TNFAIP8L3	49184620	0.000000	0.05858	0.063000	0.19743	0.054000	0.15201	0.174000	0.16743	0.551000	0.29008	0.455000	0.32223	TGT		0.512	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381		47	63	0	0	0	0.00361	0	47	63				
UNC13C	440279	broad.mit.edu	37	15	54817797	54817797	+	Silent	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:54817797T>C	ENST00000260323.11	+	24	5508	c.5508T>C	c.(5506-5508)agT>agC	p.S1836S	UNC13C_ENST00000545554.1_Silent_p.S1836S|UNC13C_ENST00000537900.1_Silent_p.S1834S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1836					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.S1836S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTAAGCTCAGTGGGGTCCTGG	0.388																																							uc002ack.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(5506-5508)AGT>AGC		unc-13 homolog C							80.0	81.0	80.0					15																	54817797		1930	4136	6066	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54817797T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5508T>C	15.37:g.54817797T>C							p.S1836S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	23	5508	+			1836					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.5508T>C	CCDS45264.1																																																																																				0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		5	9	0	0	0	0.001168	0	5	9				
VPS13C	54832	broad.mit.edu	37	15	62160902	62160902	+	Missense_Mutation	SNP	G	G	A	rs149574145		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:62160902G>A	ENST00000261517.5	-	81	10892	c.10819C>T	c.(10819-10821)Cgt>Tgt	p.R3607C	VPS13C_ENST00000249837.3_Missense_Mutation_p.R3564C|VPS13C_ENST00000395898.3_Missense_Mutation_p.R3564C|VPS13C_ENST00000395896.4_Missense_Mutation_p.R3607C	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.R3607C(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCATAAGGACGAATGATGCCA	0.443																																							uc002agz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(10819-10821)CGT>TGT		vacuolar protein sorting 13C protein isoform 2A		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	85.0	89.0		10819,10690,10690,10819	4.5	1.0	15	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	180,180,180,180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	3607/3629,3564/3711,3564/3586,3607/3754	62160902	2,13004	2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62160902G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10819C>T	15.37:g.62160902G>A	ENSP00000261517:p.Arg3607Cys					VPS13C_uc002aha.2_Missense_Mutation_p.R3564C|VPS13C_uc002ahb.1_Missense_Mutation_p.R3607C|VPS13C_uc002ahc.1_Missense_Mutation_p.R3564C	p.R3607C	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			81	10893	-			3607						Missense_Mutation	SNP	ENST00000261517.5	37	c.10819C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551502	0.86127	2.27E-4	1.16E-4	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.55588	0.52;0.51;0.72	5.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	M	0.84326	2.69	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;0.997	T	0.79546	-0.1759	10	0.87932	D	0	.	16.9978	0.86372	0.0:0.0:0.8639:0.1361	.	3564;3607;3564;3607	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	C	3564;3607;3607;3607	ENSP00000249837:R3564C;ENSP00000261517:R3607C;ENSP00000379233:R3607C	ENSP00000249837:R3564C	R	-	1	0	VPS13C	59948194	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.352000	0.66028	2.591000	0.87537	0.557000	0.71058	CGT		0.443	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		15	29	0	0	0	0.008871	0	15	29				
ZWILCH	55055	broad.mit.edu	37	15	66811350	66811350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:66811350G>T	ENST00000307897.5	+	5	834	c.454G>T	c.(454-456)Gga>Tga	p.G152*	RPL4_ENST00000568588.1_Intron|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000446801.2_Nonsense_Mutation_p.G38*|ZWILCH_ENST00000565960.1_Intron|ZWILCH_ENST00000535141.2_Nonsense_Mutation_p.G38*|ZWILCH_ENST00000565627.1_Nonsense_Mutation_p.G38*	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	152					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)		p.G152*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTGTTGGCTAGGAGCTGAGCT	0.428																																							uc002aqb.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(454-456)GGA>TGA		Zwilch							186.0	171.0	176.0					15																	66811350		2201	4299	6500	SO:0001587	stop_gained	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66811350G>T	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.454G>T	15.37:g.66811350G>T	ENSP00000311429:p.Gly152*					RPL4_uc002apx.2_Intron|ZWILCH_uc010bhu.1_Nonsense_Mutation_p.G38*|ZWILCH_uc002aqa.2_Nonsense_Mutation_p.G38*|ZWILCH_uc010bhv.2_Nonsense_Mutation_p.G38*	p.G152*	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN			5	700	+			152					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Nonsense_Mutation	SNP	ENST00000307897.5	37	c.454G>T	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	G	38	6.863307	0.97893	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	.	.	.	5.61	5.61	0.85477	.	0.050214	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.9082	18.1944	0.89817	0.0:0.0:1.0:0.0	.	.	.	.	X	152;38;38	.	ENSP00000311429:G152X	G	+	1	0	ZWILCH	64598404	1.000000	0.71417	0.971000	0.41717	0.716000	0.41182	7.950000	0.87804	2.623000	0.88846	0.650000	0.86243	GGA		0.428	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		19	83	1	0	6.33239e-15	0.010504	9.11718e-15	19	83				
ITGA11	22801	broad.mit.edu	37	15	68657091	68657091	+	Missense_Mutation	SNP	C	C	A	rs200757549		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:68657091C>A	ENST00000315757.7	-	4	397	c.311G>T	c.(310-312)cGc>cTc	p.R104L	ITGA11_ENST00000423218.2_Missense_Mutation_p.R104L|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	104					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.R104L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						AAGGCCGAGGCGCATGTTGTC	0.647																																							uc002ari.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(2)|pancreas(1)	3						c.(310-312)CGC>CTC		integrin, alpha 11 precursor	Tirofiban(DB00775)	C	LEU/ARG	0,4206		0,0,2103	92.0	100.0	97.0		311	5.1	1.0	15		97	1,8421		0,1,4210	yes	missense	ITGA11	NM_001004439.1	102	0,1,6313	AA,AC,CC		0.0119,0.0,0.0079	probably-damaging	104/1189	68657091	1,12627	2103	4211	6314	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68657091C>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.311G>T	15.37:g.68657091C>A	ENSP00000327290:p.Arg104Leu					ITGA11_uc010bib.2_Missense_Mutation_p.R104L	p.R104L	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			4	398	-			104			FG-GAP 2.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.311G>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	c	28.8	4.954893	0.92726	0.0	1.19E-4	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.58358	0.34;0.36	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	L	0.55103	1.725	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	D;D	0.87578	0.963;0.998	T	0.59904	-0.7366	10	0.12766	T	0.61	.	17.386	0.87416	0.0:1.0:0.0:0.0	.	104;104	A8K8T0;Q9UKX5	.;ITA11_HUMAN	L	104	ENSP00000327290:R104L;ENSP00000403392:R104L	ENSP00000327290:R104L	R	-	2	0	ITGA11	66444145	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	5.485000	0.66850	2.356000	0.79943	0.556000	0.70494	CGC		0.647	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		7	40	1	0	2.52707e-12	0.006214	3.49153e-12	7	40				
MYO9A	4649	broad.mit.edu	37	15	72190736	72190736	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr15:72190736G>A	ENST00000356056.5	-	25	4580	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	MYO9A_ENST00000424560.1_Missense_Mutation_p.R1370W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1370W|MYO9A_ENST00000566885.1_Missense_Mutation_p.R990W|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1351W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1370	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R1370W(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCATTGTCCCGTGAATCAAAT	0.438																																							uc002atl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4108-4110)CGG>TGG		myosin IXA							112.0	113.0	113.0					15																	72190736		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72190736G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4108C>T	15.37:g.72190736G>A	ENSP00000348349:p.Arg1370Trp					MYO9A_uc010biq.2_Missense_Mutation_p.R990W|MYO9A_uc002atn.1_Missense_Mutation_p.R1351W|MYO9A_uc002atk.2_Missense_Mutation_p.R94W|MYO9A_uc002atm.1_Missense_Mutation_p.R94W	p.R1370W	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			25	4581	-			1370			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.4108C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.733214	0.30684	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84442	-1.85;-1.83;-1.85	5.51	5.51	0.81932	.	.	.	.	.	T	0.75737	0.3890	N	0.08118	0	0.29421	N	0.860532	P;D;P	0.60160	0.618;0.987;0.767	B;B;B	0.42882	0.019;0.401;0.014	T	0.75800	-0.3190	9	0.72032	D	0.01	.	17.5882	0.87988	0.0:0.0:1.0:0.0	.	1351;1370;1370	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	W	1370;1370;1351	ENSP00000348349:R1370W;ENSP00000399162:R1370W;ENSP00000398250:R1351W	ENSP00000348349:R1370W	R	-	1	2	MYO9A	69977790	0.997000	0.39634	0.730000	0.30809	0.097000	0.18754	3.738000	0.55067	2.589000	0.87451	0.585000	0.79938	CGG		0.438	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		26	80	0	0	0	0.004656	0	26	80				
WDR90	197335	broad.mit.edu	37	16	705382	705382	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:705382C>T	ENST00000293879.4	+	15	1632	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.D544D			Q96KV7	WDR90_HUMAN	WD repeat domain 90	544								p.D544D(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCCCCGTGGACTTAGGGGAGC	0.697																																							uc002cii.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1630-1632)GAC>GAT		WD repeat domain 90							18.0	28.0	24.0					16																	705382		2159	4265	6424	SO:0001819	synonymous_variant	197335							g.chr16:705382C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1632C>T	16.37:g.705382C>T						WDR90_uc002cig.1_Silent_p.D544D|WDR90_uc002cih.1_Silent_p.D545D|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.D71D|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	p.D544D	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			15	1686	+		Hepatocellular(780;0.0218)	544					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.1632C>T	CCDS42092.1																																																																																				0.697	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		4	13	0	0	0	0.000602	0	4	13				
MYH11	4629	broad.mit.edu	37	16	15818582	15818582	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:15818582G>T	ENST00000300036.5	-	30	4147	c.4038C>A	c.(4036-4038)aaC>aaA	p.N1346K	MYH11_ENST00000396324.3_Missense_Mutation_p.N1353K|NDE1_ENST00000571896.1_3'UTR|MYH11_ENST00000576790.2_Missense_Mutation_p.N1346K|MYH11_ENST00000452625.2_Missense_Mutation_p.N1353K|NDE1_ENST00000342673.5_3'UTR|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000396354.1_3'UTR|AF001548.5_ENST00000574212.1_RNA	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1346					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.N1346K(1)|p.N1353K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTGCAGGCTGTTCCGCTCCT	0.592			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(4036-4038)AAC>AAA		smooth muscle myosin heavy chain 11 isoform							158.0	148.0	152.0					16																	15818582		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15818582G>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4038C>A	16.37:g.15818582G>T	ENSP00000300036:p.Asn1346Lys					MYH11_uc002ddv.2_Missense_Mutation_p.N1353K|MYH11_uc002ddw.2_Missense_Mutation_p.N1346K|MYH11_uc002ddx.2_Missense_Mutation_p.N1353K|MYH11_uc010bvg.2_Missense_Mutation_p.N1178K|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.N52K|NDE1_uc002ddz.1_RNA	p.N1346K	NM_002474	NP_002465	P35749	MYH11_HUMAN			30	4145	-			1346			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4038C>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444554	0.63178	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.27	3.3	0.37823	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	M	0.73962	2.25	0.80722	D	1	P;P;P;P;P	0.37731	0.578;0.578;0.578;0.578;0.607	P;P;P;P;P	0.48770	0.589;0.589;0.589;0.589;0.589	D	0.83868	0.0272	10	0.87932	D	0	.	11.1888	0.48673	0.151:0.0:0.849:0.0	.	1353;1346;1353;1346;1353	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	1346;1346;1353;1353;1353	ENSP00000300036:N1346K;ENSP00000345136:N1346K;ENSP00000379616:N1353K;ENSP00000407821:N1353K	ENSP00000300036:N1346K	N	-	3	2	MYH11	15726083	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.685000	0.54678	1.229000	0.43630	-0.136000	0.14681	AAC		0.592	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		64	171	1	0	1.52808e-22	0.00361	2.54568e-22	64	171				
GPRC5B	51704	broad.mit.edu	37	16	19873217	19873217	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:19873217G>C	ENST00000300571.2	-	3	1300	c.1109C>G	c.(1108-1110)cCg>cGg	p.P370R	GPRC5B_ENST00000569847.1_Missense_Mutation_p.P370R|GPRC5B_ENST00000535671.1_Missense_Mutation_p.P370R|GPRC5B_ENST00000537135.1_Missense_Mutation_p.P396R|GPRC5B_ENST00000569479.1_Missense_Mutation_p.P370R	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	370					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.P370R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCTTCTAAACGGAGCGCTGGG	0.562																																							uc002dgt.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)|skin(1)	3						c.(1108-1110)CCG>CGG		G protein-coupled receptor, family C, group 5,							121.0	100.0	107.0					16																	19873217		2197	4300	6497	SO:0001583	missense	51704							g.chr16:19873217G>C	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1109C>G	16.37:g.19873217G>C	ENSP00000300571:p.Pro370Arg					GPRC5B_uc010vav.1_Missense_Mutation_p.P396R	p.P370R	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN			3	1217	-			370			Cytoplasmic (Potential).		D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.1109C>G	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114816	0.77210	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.27402	1.69;1.68;1.67	5.31	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.46718	0.1407	L	0.48642	1.525	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.32693	-0.9897	9	.	.	.	.	13.0052	0.58701	0.0775:0.0:0.9225:0.0	.	396;370	B7Z831;Q9NZH0	.;GPC5B_HUMAN	R	370;370;219;396	ENSP00000300571:P370R;ENSP00000442858:P370R;ENSP00000441775:P396R	.	P	-	2	0	GPRC5B	19780718	1.000000	0.71417	0.528000	0.27938	0.966000	0.64601	9.071000	0.93980	1.245000	0.43885	-0.136000	0.14681	CCG		0.562	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			34	73	0	0	0	0.003271	0	34	73				
ACSM2B	348158	broad.mit.edu	37	16	20563612	20563612	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:20563612C>A	ENST00000329697.6	-	6	916	c.748G>T	c.(748-750)Ggc>Tgc	p.G250C	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G250C|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G171C|ACSM2B_ENST00000565232.1_Missense_Mutation_p.G250C	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	250					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.G250C(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCTTGCAGGCCTGTCCAACTG	0.473																																							uc002dhj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(748-750)GGC>TGC		acyl-CoA synthetase medium-chain family member							118.0	113.0	115.0					16																	20563612		2201	4297	6498	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20563612C>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.748G>T	16.37:g.20563612C>A	ENSP00000327453:p.Gly250Cys					ACSM2B_uc002dhk.3_Missense_Mutation_p.G250C|ACSM2B_uc010bwf.1_Missense_Mutation_p.G250C	p.G250C	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			7	958	-			250					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.748G>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659715	0.47572	.	.	ENSG00000066813	ENST00000329697	T	0.55588	0.51	3.23	3.23	0.37069	AMP-dependent synthetase/ligase (1);	0.860316	0.09729	N	0.763444	T	0.63780	0.2540	L	0.47190	1.495	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	T	0.60495	-0.7252	10	0.56958	D	0.05	-1.6241	9.9284	0.41507	0.0:0.8924:0.0:0.1076	.	250;250	A8K051;Q68CK6	.;ACS2B_HUMAN	C	250	ENSP00000327453:G250C	ENSP00000327453:G250C	G	-	1	0	ACSM2B	20471113	0.000000	0.05858	0.511000	0.27724	0.012000	0.07955	0.343000	0.19944	1.809000	0.52856	0.609000	0.83330	GGC		0.473	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		48	122	1	0	4.45325e-31	0.00361	7.90873e-31	48	122				
EARS2	124454	broad.mit.edu	37	16	23540900	23540900	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:23540900C>A	ENST00000563459.1	-	7	1281	c.1275G>T	c.(1273-1275)tgG>tgT	p.W425C	EARS2_ENST00000449606.1_Missense_Mutation_p.W425C|EARS2_ENST00000563232.1_Missense_Mutation_p.W425C|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.W425C			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	425					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)	p.W425C(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CAGGGCGAGTCCACAGGTAAG	0.592																																							uc002dlt.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1273-1275)TGG>TGT		glutamyl-tRNA synthetase 2 precursor	L-Glutamic Acid(DB00142)						51.0	53.0	52.0					16																	23540900		2082	4208	6290	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23540900C>A	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1275G>T	16.37:g.23540900C>A	ENSP00000456467:p.Trp425Cys					EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.W425C	p.W425C	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	7	1307	-			425					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.1275G>T	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838535	0.71373	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.43294	0.95	5.61	5.61	0.85477	Aminoacyl-tRNA synthetase, class I, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.68458	0.3003	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.96	T	0.67941	-0.5540	10	0.38643	T	0.18	-5.5876	18.6174	0.91308	0.0:1.0:0.0:0.0	.	425;425	Q86YH3;Q5JPH6	.;SYEM_HUMAN	C	425	ENSP00000395196:W425C	ENSP00000343488:W425C	W	-	3	0	EARS2	23448401	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	7.056000	0.76662	2.644000	0.89710	0.563000	0.77884	TGG		0.592	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		11	43	1	0	1.58986e-06	0.008291	1.86475e-06	11	43				
GTF3C1	2975	broad.mit.edu	37	16	27523148	27523148	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:27523148C>G	ENST00000356183.4	-	7	1063	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E350Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	350	Asp/Glu-rich (acidic).				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E350Q(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATGACCTCCTCGTCCTCGTCA	0.532																																							uc002dov.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1048-1050)GAG>CAG		general transcription factor IIIC, polypeptide							207.0	155.0	173.0					16																	27523148		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27523148C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1048G>C	16.37:g.27523148C>G	ENSP00000348510:p.Glu350Gln					GTF3C1_uc002dou.2_Missense_Mutation_p.E350Q	p.E350Q	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			7	1088	-			350			Asp/Glu-rich (acidic).		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1048G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106566	0.77096	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.27557	1.66	5.84	5.84	0.93424	.	0.251271	0.39020	N	0.001496	T	0.44265	0.1285	L	0.29908	0.895	0.41892	D	0.990379	D;D	0.71674	0.994;0.998	P;D	0.65874	0.863;0.939	T	0.11203	-1.0597	10	0.32370	T	0.25	-5.0432	19.7485	0.96259	0.0:1.0:0.0:0.0	.	350;350	Q12789;Q12789-3	TF3C1_HUMAN;.	Q	350;348	ENSP00000348510:E350Q	ENSP00000348510:E350Q	E	-	1	0	GTF3C1	27430649	0.997000	0.39634	0.998000	0.56505	0.499000	0.33736	4.536000	0.60636	2.763000	0.94921	0.650000	0.86243	GAG		0.532	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		29	47	0	0	0	0.00632	0	29	47				
PYDC1	260434	broad.mit.edu	37	16	31230652	31230652	+	5'Flank	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:31230652G>T	ENST00000302964.3	-	0	0				PYDC1_ENST00000568383.1_5'Flank|TRIM72_ENST00000322122.3_Missense_Mutation_p.G177C	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)		p.G177C(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGAGCAGCTGGGCAAGATGCG	0.667																																							uc002ebn.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(529-531)GGC>TGC		tripartite motif-containing 72							51.0	55.0	53.0					16																	31230652		2197	4300	6497	SO:0001631	upstream_gene_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31230652G>T		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31230652G>T	Exception_encountered					PYDC1_uc002ebo.2_5'Flank	p.G177C	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			4	758	+			177					B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.529G>T	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032044	0.75504	.	.	ENSG00000177238	ENST00000322122	T	0.63744	-0.06	5.37	5.37	0.77165	.	0.343577	0.28595	N	0.014796	T	0.67581	0.2908	L	0.55481	1.735	0.49582	D	0.999802	D	0.64830	0.994	P	0.54401	0.751	T	0.70828	-0.4766	10	0.87932	D	0	.	11.3936	0.49827	0.0845:0.0:0.9155:0.0	.	177	Q6ZMU5	TRI72_HUMAN	C	177	ENSP00000312675:G177C	ENSP00000312675:G177C	G	+	1	0	TRIM72	31138153	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.552000	0.45828	2.502000	0.84385	0.655000	0.94253	GGC		0.667	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		47	80	1	0	1.72184e-34	0.00361	3.1242e-34	47	80				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																							uc002edh.1		NA																	0					0						c.(262-264)AAA>AAC		RecName: Full=Transporter;																																						386757							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G						SLC6A10P_uc002edi.1_RNA	p.K88N							5	440	-									Missense_Mutation	SNP	ENST00000330048.5	37	c.264A>C																																																																																					0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	28	0	0	0	0.004672	0	3	28				
ABCC11	85320	broad.mit.edu	37	16	48248819	48248819	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:48248819G>T	ENST00000394747.1	-	8	1570	c.1221C>A	c.(1219-1221)tcC>tcA	p.S407S	ABCC11_ENST00000394748.1_Silent_p.S407S|ABCC11_ENST00000353782.5_Silent_p.S407S|ABCC11_ENST00000356608.2_Silent_p.S407S|ABCC11_ENST00000537808.1_Silent_p.S407S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	407	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.S407S(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TCAGCTTTAAGGATGTGTGGA	0.483																																							uc002eff.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1219-1221)TCC>TCA		ATP-binding cassette, sub-family C, member 11							128.0	106.0	114.0					16																	48248819		2201	4300	6501	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48248819G>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1221C>A	16.37:g.48248819G>T						ABCC11_uc002efg.1_Silent_p.S407S|ABCC11_uc002efh.1_Silent_p.S407S|ABCC11_uc010vgk.1_RNA	p.S407S	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			8	1571	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	407			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.1221C>A	CCDS10732.1																																																																																				0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		20	36	1	0	1.50039e-11	0.012319	2.032e-11	20	36				
ZNF423	23090	broad.mit.edu	37	16	49670060	49670060	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:49670060C>G	ENST00000561648.1	-	4	3056	c.3003G>C	c.(3001-3003)gaG>gaC	p.E1001D	ZNF423_ENST00000562871.1_Missense_Mutation_p.E941D|ZNF423_ENST00000535559.1_Missense_Mutation_p.E884D|ZNF423_ENST00000563137.2_Missense_Mutation_p.E941D|ZNF423_ENST00000567169.1_Missense_Mutation_p.E884D|ZNF423_ENST00000262383.2_Missense_Mutation_p.E1001D|ZNF423_ENST00000562520.1_Missense_Mutation_p.E941D	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1001					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|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)	p.E1001D(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CAATAAACTCCTCCTCGCTCT	0.597																																							uc002efs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(3001-3003)GAG>GAC		zinc finger protein 423							73.0	67.0	69.0					16																	49670060		2199	4300	6499	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670060C>G	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3003G>C	16.37:g.49670060C>G	ENSP00000455426:p.Glu1001Asp					ZNF423_uc010vgn.1_Missense_Mutation_p.E884D	p.E1001D	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	3301	-		all_cancers(37;0.0155)	1001					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3003G>C	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333998	0.60853	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10005	2.92;2.96	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.18425	0.0442	L	0.27053	0.805	0.42153	D	0.991566	D	0.71674	0.998	D	0.79108	0.992	T	0.02805	-1.1108	9	.	.	.	-33.5698	11.3953	0.49838	0.0:0.917:0.0:0.083	.	1001	Q2M1K9	ZN423_HUMAN	D	1001;884	ENSP00000262383:E1001D;ENSP00000442321:E884D	.	E	-	3	2	ZNF423	48227561	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.347000	0.52200	2.234000	0.73211	0.561000	0.74099	GAG		0.597	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		4	18	0	0	0	0.000602	0	4	18				
FTO	79068	broad.mit.edu	37	16	53967990	53967990	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:53967990C>T	ENST00000471389.1	+	8	1555	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	FTO_ENST00000460382.1_Missense_Mutation_p.R46C|FTO_ENST00000431610.2_Missense_Mutation_p.R46C|FTO_ENST00000394647.3_Missense_Mutation_p.R149C|FTO_ENST00000463855.1_Missense_Mutation_p.R67C	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	445					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)	p.R445C(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCTCACTGCACGCCAGAACCT	0.468																																							uc002ehr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1333-1335)CGC>TGC		fat mass and obesity associated							110.0	88.0	96.0					16																	53967990		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53967990C>T	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1333C>T	16.37:g.53967990C>T	ENSP00000418823:p.Arg445Cys					FTO_uc010vha.1_Missense_Mutation_p.R149C|FTO_uc010cbz.2_Missense_Mutation_p.R46C|FTO_uc002ehs.2_RNA	p.R445C	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN			8	1555	+			445					A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.1333C>T	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439268	0.63067	.	.	ENSG00000140718	ENST00000471389;ENST00000394647;ENST00000431610;ENST00000460382;ENST00000476894;ENST00000463855	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.92	4.96	0.65561	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.137953	0.50627	D	0.000118	T	0.68063	0.2960	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72290	-0.4337	10	0.72032	D	0.01	0.08	13.9285	0.63978	0.2749:0.7251:0.0:0.0	.	445	Q9C0B1	FTO_HUMAN	C	445;149;46;46;46;67	ENSP00000418823:R445C;ENSP00000378142:R149C;ENSP00000415636:R46C;ENSP00000417422:R46C;ENSP00000417843:R67C	ENSP00000378142:R149C	R	+	1	0	FTO	52525491	0.979000	0.34478	0.891000	0.34965	0.962000	0.63368	2.480000	0.45206	1.489000	0.48450	0.557000	0.71058	CGC		0.468	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		8	38	0	0	0	0.00308	0	8	38				
MMP2	4313	broad.mit.edu	37	16	55519237	55519237	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:55519237G>C	ENST00000219070.4	+	4	1065	c.556G>C	c.(556-558)Ggt>Cgt	p.G186R	MMP2_ENST00000570308.1_Missense_Mutation_p.G110R|MMP2_ENST00000543485.1_Missense_Mutation_p.G110R|MMP2_ENST00000437642.2_Missense_Mutation_p.G136R	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	186	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.G186fs*16(1)|p.G186R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CCCCTTTGACGGTAAGGACGG	0.562																																							uc002ehz.3		NA																	2	Substitution - Missense(1)|Deletion - Frameshift(1)		lung(1)|breast(1)	large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(556-558)GGT>CGT		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						163.0	135.0	145.0					16																	55519237		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55519237G>C		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.556G>C	16.37:g.55519237G>C	ENSP00000219070:p.Gly186Arg					MMP2_uc010vhd.1_Missense_Mutation_p.G110R|MMP2_uc010ccc.2_Missense_Mutation_p.G136R	p.G186R	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	4	867	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	186			Collagenase-like 1.	Calcium 3; via carbonyl oxygen (By similarity).	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.556G>C	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666670	0.88251	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.28666	1.6;1.6;1.6	4.77	4.77	0.60923	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64216	0.2578	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.73448	-0.3979	10	0.62326	D	0.03	.	17.7946	0.88566	0.0:0.0:1.0:0.0	.	136;186	E9PE45;P08253	.;MMP2_HUMAN	R	186;110;136	ENSP00000219070:G186R;ENSP00000444143:G110R;ENSP00000394237:G136R	ENSP00000219070:G186R	G	+	1	0	MMP2	54076738	1.000000	0.71417	0.994000	0.49952	0.757000	0.42996	9.859000	0.99545	2.194000	0.70268	0.544000	0.68410	GGT		0.562	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			33	61	0	0	0	0.003755	0	33	61				
NLRC5	84166	broad.mit.edu	37	16	57111715	57111715	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:57111715G>T	ENST00000262510.6	+	42	5228		c.e42+1		NLRC5_ENST00000539144.1_Splice_Site|NLRC5_ENST00000436936.1_Splice_Site|NLRC5_ENST00000308149.7_Splice_Site	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.?(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGAGTTGATGTGAGTGTCTG	0.672																																							uc002ekk.1		NA																	1	Unknown(1)		lung(1)	ovary(4)|skin(2)|breast(1)	7						c.e42+1		nucleotide-binding oligomerization domains 27							84.0	87.0	86.0					16																	57111715		2198	4300	6498	SO:0001630	splice_region_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57111715G>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5003+1G>T	16.37:g.57111715G>T						NLRC5_uc010ccr.1_Splice_Site|NLRC5_uc010ccs.1_Splice_Site|NLRC5_uc002eko.1_Splice_Site|NLRC5_uc002ekq.1_Splice_Site_p.M210_splice|NLRC5_uc002ekr.1_Splice_Site_p.M555_splice	p.M1668_splice	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			42	5228	+		all_neural(199;0.225)						B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Splice_Site	SNP	ENST00000262510.6	37	c.5003_splice	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.679789	0.47886	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2558	0.60079	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRC5	55669216	0.996000	0.38824	0.949000	0.38748	0.626000	0.37791	4.839000	0.62810	2.509000	0.84616	0.561000	0.74099	.		0.672	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	Intron	18	22	1	0	0.00074312	0.006122	0.00080746	18	22				
CES3	23491	broad.mit.edu	37	16	66998348	66998348	+	Missense_Mutation	SNP	G	G	A	rs568963264		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:66998348G>A	ENST00000303334.4	+	5	720	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000394037.1_Missense_Mutation_p.G217R	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	217						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)	p.G217R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CGCCCCCTTCGGGGGTGACCT	0.582													g|||	1	0.000199681	0.0	0.0	5008	,	,		20116	0.0		0.0	False		,,,				2504	0.001						uc002eqt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(649-651)GGG>AGG		carboxylesterase 3 precursor							89.0	92.0	91.0					16																	66998348		2200	4300	6500	SO:0001583	missense	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66998348G>A	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.649G>A	16.37:g.66998348G>A	ENSP00000304782:p.Gly217Arg					CES3_uc010cdz.2_Missense_Mutation_p.G217R|CES3_uc010cea.2_RNA	p.G217R	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	5	722	+		Ovarian(137;0.0563)	217					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	c.649G>A	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625357	0.87560	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	D;D	0.83419	-1.72;-1.72	4.13	4.13	0.48395	Carboxylesterase, type B (1);	0.000000	0.42294	D	0.000735	D	0.94128	0.8117	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96064	0.9041	10	0.72032	D	0.01	.	15.4933	0.75629	0.0:0.0:1.0:0.0	.	217	Q6UWW8	EST3_HUMAN	R	217	ENSP00000304782:G217R;ENSP00000377602:G217R	ENSP00000304782:G217R	G	+	1	0	CES3	65555849	1.000000	0.71417	0.150000	0.22450	0.248000	0.25809	6.434000	0.73408	2.259000	0.74868	0.655000	0.94253	GGG		0.582	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		6	24	0	0	0	0.001168	0	6	24				
ADAMTS18	170692	broad.mit.edu	37	16	77317892	77317892	+	Nonsense_Mutation	SNP	G	G	T	rs202179665		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:77317892G>T	ENST00000282849.5	-	23	4045	c.3627C>A	c.(3625-3627)taC>taA	p.Y1209*	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1209	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y1209*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTGTTTTCCGTAAAACTTGT	0.458																																							uc002ffc.3		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(3625-3627)TAC>TAA		ADAM metallopeptidase with thrombospondin type 1							202.0	170.0	181.0					16																	77317892		2198	4300	6498	SO:0001587	stop_gained	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77317892G>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3627C>A	16.37:g.77317892G>T	ENSP00000282849:p.Tyr1209*						p.Y1209*	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			23	4046	-			1209			PLAC.		Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	c.3627C>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	41	8.553990	0.98861	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.93	-11.3	0.00108	.	0.065058	0.64402	D	0.000005	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	21.0418	0.99944	0.4138:0.0:0.5862:0.0	.	.	.	.	X	1209	.	ENSP00000282849:Y1209X	Y	-	3	2	ADAMTS18	75875393	0.016000	0.18221	0.013000	0.15412	0.364000	0.29643	-0.591000	0.05753	-2.402000	0.00577	-3.044000	0.00070	TAC		0.458	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			21	76	1	0	6.44725e-10	0.002299	8.38477e-10	21	76				
FBXO39	162517	broad.mit.edu	37	17	6690699	6690699	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:6690699G>T	ENST00000321535.4	+	4	1411	c.1281G>T	c.(1279-1281)ctG>ctT	p.L427L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	427								p.L427L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						ACAGAAAGCTGATCGAATCAG	0.398																																							uc010vtg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1279-1281)CTG>CTT		F-box protein 39							150.0	144.0	146.0					17																	6690699		2203	4300	6503	SO:0001819	synonymous_variant	162517							g.chr17:6690699G>T	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1281G>T	17.37:g.6690699G>T						FBXO39_uc010cls.1_Intron	p.L427L	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN			4	1401	+			427						Silent	SNP	ENST00000321535.4	37	c.1281G>T	CCDS11082.1																																																																																				0.398	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		18	63	1	0	3.41278e-10	0.00499	4.47705e-10	18	63				
ACAP1	9744	broad.mit.edu	37	17	7246801	7246801	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:7246801C>G	ENST00000158762.3	+	6	654	c.448C>G	c.(448-450)Cag>Gag	p.Q150E	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	150	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.Q150E(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCGCCGGGCCCAGGAGGCAGA	0.672																																							uc002ggd.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)	3						c.(448-450)CAG>GAG		centaurin beta1							32.0	41.0	38.0					17																	7246801		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7246801C>G	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.448C>G	17.37:g.7246801C>G	ENSP00000158762:p.Gln150Glu						p.Q150E	NM_014716	NP_055531	Q15027	ACAP1_HUMAN			6	654	+			150			BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.448C>G	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456642	0.63401	.	.	ENSG00000072818	ENST00000158762	T	0.03951	3.75	5.24	5.24	0.73138	.	0.130964	0.53938	D	0.000060	T	0.05593	0.0147	L	0.48642	1.525	0.80722	D	1	B	0.19817	0.039	B	0.19148	0.024	T	0.15122	-1.0448	10	0.05436	T	0.98	.	16.6685	0.85259	0.0:1.0:0.0:0.0	.	150	Q15027	ACAP1_HUMAN	E	150	ENSP00000158762:Q150E	ENSP00000158762:Q150E	Q	+	1	0	ACAP1	7187525	1.000000	0.71417	0.957000	0.39632	0.983000	0.72400	6.520000	0.73773	2.618000	0.88619	0.462000	0.41574	CAG		0.672	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		13	56	0	0	0	0.00245	0	13	56				
DNAH2	146754	broad.mit.edu	37	17	7638002	7638002	+	Silent	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:7638002T>C	ENST00000572933.1	+	7	2414	c.954T>C	c.(952-954)ttT>ttC	p.F318F	DNAH2_ENST00000082259.3_Silent_p.F318F|DNAH2_ENST00000389173.2_Silent_p.F318F|DNAH2_ENST00000570791.1_Silent_p.F318F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	318	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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F318F(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCGCCCTTTATGAAACTGG	0.512																																							uc002giu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(952-954)TTT>TTC		dynein heavy chain domain 3							91.0	78.0	82.0					17																	7638002		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7638002T>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.954T>C	17.37:g.7638002T>C						DNAH2_uc002git.2_Silent_p.F318F|DNAH2_uc010vuk.1_Silent_p.F318F	p.F318F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			6	968	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	318			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.954T>C	CCDS32551.1																																																																																				0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		17	49	0	0	0	0.006122	0	17	49				
MYH1	4619	broad.mit.edu	37	17	10397671	10397671	+	Splice_Site	SNP	C	C	T	rs145273788	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:10397671C>T	ENST00000226207.5	-	39	5761	c.5667G>A	c.(5665-5667)gcG>gcA	p.A1889A	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1889					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1889A(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGAACTCACCGCTTCTTCAG	0.443																																							uc002gmo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5665-5667)GCG>GCA		myosin, heavy chain 1, skeletal muscle, adult		C		0,4406		0,0,2203	131.0	134.0	133.0		5667	4.3	1.0	17	dbSNP_134	133	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous-near-splice	MYH1	NM_005963.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1889/1940	10397671	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10397671C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5667+1G>A	17.37:g.10397671C>T						uc002gml.1_Intron	p.A1889A	NM_005963	NP_005954	P12882	MYH1_HUMAN			39	5761	-			1889			Potential.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.5667G>A	CCDS11155.1																																																																																				0.443	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Silent	35	67	0	0	0	0.003755	0	35	67				
DNAH9	1770	broad.mit.edu	37	17	11837221	11837221	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:11837221C>T	ENST00000262442.4	+	65	12390	c.12322C>T	c.(12322-12324)Ctg>Ttg	p.L4108L	DNAH9_ENST00000608377.1_Silent_p.L420L|DNAH9_ENST00000454412.2_Silent_p.L4032L|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4108					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L4108L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGCGCTACCTGTTTGGAGA	0.517																																							uc002gne.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(12322-12324)CTG>TTG		dynein, axonemal, heavy chain 9 isoform 2							89.0	86.0	87.0					17																	11837221		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11837221C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12322C>T	17.37:g.11837221C>T						DNAH9_uc010coo.2_Silent_p.L3326L|DNAH9_uc002gnf.2_Silent_p.L420L	p.L4108L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	65	12390	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4108					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.12322C>T	CCDS11160.1																																																																																				0.517	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		10	50	0	0	0	0.006214	0	10	50				
MYOCD	93649	broad.mit.edu	37	17	12656400	12656400	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:12656400C>A	ENST00000343344.4	+	10	1795	c.1795C>A	c.(1795-1797)Ccg>Acg	p.P599T	MYOCD_ENST00000425538.1_Missense_Mutation_p.P599T|AC005358.1_ENST00000609971.1_Missense_Mutation_p.P503T|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	599					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P599T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GTGTCACCCACCGGCTTGTGA	0.517																																							uc002gnn.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1795-1797)CCG>ACG		myocardin isoform 2							88.0	96.0	93.0					17																	12656400		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656400C>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1795C>A	17.37:g.12656400C>A	ENSP00000341835:p.Pro599Thr					MYOCD_uc002gno.2_Missense_Mutation_p.P599T|MYOCD_uc002gnp.1_Missense_Mutation_p.P503T|MYOCD_uc002gnq.2_Missense_Mutation_p.P318T	p.P599T	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	2094	+			599					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1795C>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	4.680	0.126391	0.08931	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.44083	0.97;0.93	5.65	0.804	0.18697	.	0.651463	0.15453	N	0.261570	T	0.24890	0.0604	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.09377	0.001;0.002;0.004;0.002	T	0.21586	-1.0241	10	0.16896	T	0.51	-0.1274	10.0249	0.42066	0.2208:0.5842:0.195:0.0	.	318;503;599;599	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	T	318;599;599;503;304	ENSP00000341835:P599T;ENSP00000400148:P304T	ENSP00000341835:P599T	P	+	1	0	MYOCD	12597125	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.417000	0.21214	0.254000	0.21573	0.655000	0.94253	CCG		0.517	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		28	62	1	0	4.02929e-09	0.010818	5.12509e-09	28	62				
PIGS	94005	broad.mit.edu	37	17	26883184	26883184	+	Splice_Site	SNP	C	C	A	rs201564876		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:26883184C>A	ENST00000308360.7	-	10	1556	c.1181G>T	c.(1180-1182)cGg>cTg	p.R394L	PIGS_ENST00000395346.2_Splice_Site_p.R386L|PIGS_ENST00000465444.1_5'Flank|PIGS_ENST00000543734.1_Splice_Site_p.R333L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	394					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.R394L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					AGGACCTCACCGCAACTGTGC	0.512																																							uc002hbo.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|urinary_tract(1)|kidney(1)	4						c.(1180-1182)CGG>CTG		phosphatidylinositol glycan anchor biosynthesis,							212.0	149.0	170.0					17																	26883184		2203	4300	6503	SO:0001630	splice_region_variant	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26883184C>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1181+1G>T	17.37:g.26883184C>A						PIGS_uc002hbn.2_Missense_Mutation_p.R386L|PIGS_uc010wap.1_Missense_Mutation_p.R333L	p.R394L	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			10	1554	-	Lung NSC(42;0.00431)		394			Lumenal (Potential).		Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.1181G>T	CCDS11235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.766153|5.766153	0.96914|0.96914	.|.	.|.	ENSG00000087111|ENSG00000087111	ENST00000268758|ENST00000395346;ENST00000308360;ENST00000543734	.|T;T;T	.|0.41065	.|1.01;1.01;1.01	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56337|0.56337	0.1978|0.1978	L|L	0.53780|0.53780	1.695|1.695	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63046	.|0.992;0.99	.|P;P	.|0.62089	.|0.898;0.835	T|T	0.44019|0.44019	-0.9355|-0.9355	6|10	0.87932|0.12430	D|T	0|0.62	-16.2866|-16.2866	19.2822|19.2822	0.94055|0.94055	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|394;386	.|Q96S52;Q96S52-2	.|PIGS_HUMAN;.	C|L	136|386;394;333	.|ENSP00000378755:R386L;ENSP00000309430:R394L;ENSP00000438447:R333L	ENSP00000268758:G136C|ENSP00000309430:R394L	G|R	-|-	1|2	0|0	PIGS|PIGS	23907311|23907311	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.544000|5.544000	0.67231|0.67231	2.653000|2.653000	0.90120|0.90120	0.563000|0.563000	0.77884|0.77884	GGT|CGG		0.512	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198	Missense_Mutation	16	49	1	0	0.000308642	0.003163	0.000339281	16	49				
CORO6	84940	broad.mit.edu	37	17	27948283	27948283	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:27948283C>G	ENST00000445145.2	-	1	158	c.157G>C	c.(157-159)Gct>Cct	p.A53P	CORO6_ENST00000388767.3_Missense_Mutation_p.A53P|RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.A53P|CORO6_ENST00000345068.5_Missense_Mutation_p.A53P|CORO6_ENST00000580212.1_Missense_Mutation_p.A53P|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	53					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)	p.A53P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CCGCCTCCAGCCTCCACAATA	0.602																																							uc002hel.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GCT>CCT		coronin 6							58.0	64.0	62.0					17																	27948283		2173	4287	6460	SO:0001583	missense	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27948283C>G	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.157G>C	17.37:g.27948283C>G	ENSP00000393624:p.Ala53Pro						p.A53P	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN			1	159	-			53					B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.157G>C		.	.	.	.	.	.	.	.	.	.	C	13.36	2.214002	0.39102	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T	0.61859	0.14;0.07	5.59	4.6	0.57074	.	0.327204	0.33161	N	0.005210	T	0.77184	0.4093	M	0.90595	3.13	0.80722	D	1	D	0.54047	0.964	P	0.59487	0.858	T	0.82682	-0.0336	10	0.87932	D	0	-11.1786	13.7901	0.63135	0.3304:0.6696:0.0:0.0	.	53	Q6QEF8-5	.	P	124;53;53	ENSP00000373419:A53P;ENSP00000393624:A53P	ENSP00000344562:A124P	A	-	1	0	CORO6	24972409	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.588000	0.23924	1.448000	0.47680	0.655000	0.94253	GCT		0.602	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		11	38	0	0	0	0.001368	0	11	38				
SLFN5	162394	broad.mit.edu	37	17	33585721	33585721	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:33585721G>T	ENST00000299977.4	+	2	160	c.12G>T	c.(10-12)agG>agT	p.R4S	SLFN5_ENST00000592325.1_Missense_Mutation_p.R4S|SLFN5_ENST00000542451.1_Missense_Mutation_p.R4S	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	4					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R4S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGAGTCTTAGGATTGATGTGG	0.463																																							uc002hjf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(10-12)AGG>AGT		schlafen family member 5							73.0	71.0	71.0					17																	33585721		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33585721G>T	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.12G>T	17.37:g.33585721G>T	ENSP00000299977:p.Arg4Ser					SLFN5_uc002hje.2_Missense_Mutation_p.R4S|SLFN5_uc010wcg.1_Missense_Mutation_p.R4S	p.R4S	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	129	+		Ovarian(249;0.17)	4					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.12G>T	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	6.832	0.522665	0.13066	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.05996	4.63;3.36	3.76	1.74	0.24563	.	0.775011	0.10565	N	0.659786	T	0.02767	0.0083	N	0.04260	-0.245	0.09310	N	1	B;B;B	0.19073	0.033;0.033;0.003	B;B;B	0.12837	0.007;0.007;0.008	T	0.48811	-0.9002	10	0.18710	T	0.47	.	5.9368	0.19171	0.2454:0.0:0.7546:0.0	.	4;4;4	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	S	4	ENSP00000299977:R4S;ENSP00000440537:R4S	ENSP00000299977:R4S	R	+	3	2	SLFN5	30609834	0.000000	0.05858	0.002000	0.10522	0.167000	0.22549	-0.085000	0.11250	0.381000	0.24851	0.655000	0.94253	AGG		0.463	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		13	53	1	0	7.93312e-07	0.00245	9.39252e-07	13	53				
KRT28	162605	broad.mit.edu	37	17	38955966	38955966	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:38955966G>A	ENST00000306658.7	-	1	245	c.180C>T	c.(178-180)agC>agT	p.S60S		NM_181535.3	NP_853513.2			keratin 28									p.S60S(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CACCAGCATGGCTCCCACCAG	0.547																																					Melanoma(19;789 869 15380 26882 39836)	Melanoma(19;789 869 15380 26882 39836)	uc002hvh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(178-180)AGC>AGT		keratin 25D							71.0	73.0	72.0					17																	38955966		2203	4300	6503	SO:0001819	synonymous_variant	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38955966G>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.180C>T	17.37:g.38955966G>A							p.S60S	NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN			1	246	-		Breast(137;0.000301)	60			Gly-rich.|Head.			Silent	SNP	ENST00000306658.7	37	c.180C>T	CCDS11376.1																																																																																				0.547	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		47	33	0	0	0	0.00361	0	47	33				
C17orf53	78995	broad.mit.edu	37	17	42232034	42232034	+	Splice_Site	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:42232034T>A	ENST00000319977.4	+	6	1798		c.e6+2		C17orf53_ENST00000245382.6_Splice_Site|C17orf53_ENST00000585683.1_Splice_Site	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53									p.?(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACCCCACGGGTAAGGAATTAG	0.542																																							uc002ifi.1		NA																	1	Unknown(1)		lung(1)		0						c.e6+2		hypothetical protein LOC78995							84.0	75.0	78.0					17																	42232034		2203	4300	6503	SO:0001630	splice_region_variant	78995							g.chr17:42232034T>A	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1561+2T>A	17.37:g.42232034T>A						C17orf53_uc010czq.1_Splice_Site_p.G520_splice|C17orf53_uc002ifj.1_Splice_Site_p.G445_splice|C17orf53_uc002ifk.1_Splice_Site	p.G521_splice	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	6	1746	+		Breast(137;0.0364)|Prostate(33;0.0376)						A8K7A9|Q9BWM9|Q9HAI1	Splice_Site	SNP	ENST00000319977.4	37	c.1561_splice	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.474490	0.63737	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5589	0.76223	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C17orf53	39587560	1.000000	0.71417	0.998000	0.56505	0.360000	0.29518	7.543000	0.82106	2.317000	0.78254	0.459000	0.35465	.		0.542	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032	Intron	9	46	0	0	0	0.004482	0	9	46				
ATXN7L3	56970	broad.mit.edu	37	17	42274678	42274678	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:42274678T>C	ENST00000454077.2	-	3	273	c.274A>G	c.(274-276)Agc>Ggc	p.S92G	CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.S92G|ATXN7L3_ENST00000593073.1_Intron	NM_020218.1	NP_064603.1			ataxin 7-like 3									p.S92G(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCGGCAATGCTGCGACTGCAA	0.597																																							uc002iga.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(274-276)AGC>GGC		ataxin 7-like 3 isoform b							87.0	101.0	96.0					17																	42274678		2048	4191	6239	SO:0001583	missense	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42274678T>C	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.274A>G	17.37:g.42274678T>C	ENSP00000397259:p.Ser92Gly					ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Missense_Mutation_p.S92G	p.S92G	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	365	-		Breast(137;0.00765)|Prostate(33;0.0181)	92			SGF11-type.			Missense_Mutation	SNP	ENST00000454077.2	37	c.274A>G	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.249621	0.39797	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.65	3.55	0.40652	.	0.355583	0.25014	N	0.033817	T	0.52322	0.1727	L	0.43152	1.355	0.35076	D	0.762924	D;D	0.59767	0.986;0.979	P;P	0.53006	0.715;0.576	T	0.59273	-0.7485	9	0.30854	T	0.27	.	10.3836	0.44125	0.0:0.0:0.1653:0.8347	.	92;92	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	G	92	.	ENSP00000374035:S92G	S	-	1	0	ATXN7L3	39630204	1.000000	0.71417	0.868000	0.34077	0.668000	0.39293	3.744000	0.55112	0.618000	0.30179	0.459000	0.35465	AGC		0.597	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			22	118	0	0	0	0.002299	0	22	118				
FMNL1	752	broad.mit.edu	37	17	43321390	43321390	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:43321390C>T	ENST00000331495.3	+	18	2782	c.2446C>T	c.(2446-2448)Ccg>Tcg	p.P816S	CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.P394S|FMNL1_ENST00000328118.3_Missense_Mutation_p.P816S	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	816	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.P816S(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCTGCTCATGCCGGTGTGGGC	0.672																																					GBM(164;1247 1997 8702 11086 51972)	GBM(164;1247 1997 8702 11086 51972)	uc002iin.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2446-2448)CCG>TCG		formin-like 1							43.0	41.0	42.0					17																	43321390		2203	4300	6503	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43321390C>T	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2446C>T	17.37:g.43321390C>T	ENSP00000329219:p.Pro816Ser					FMNL1_uc002iiq.2_Missense_Mutation_p.P394S|FMNL1_uc010dag.2_RNA	p.P816S	NM_005892	NP_005883	O95466	FMNL_HUMAN			18	2646	+			816			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.2446C>T	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720948	0.89205	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.17691	2.26;2.26	4.19	4.19	0.49359	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	M	0.76938	2.355	0.80722	D	1	D	0.65815	0.995	D	0.68039	0.955	T	0.45308	-0.9270	10	0.72032	D	0.01	.	15.6236	0.76829	0.0:1.0:0.0:0.0	.	816	O95466	FMNL_HUMAN	S	816;816;471	ENSP00000327442:P816S;ENSP00000329219:P816S	ENSP00000327442:P816S	P	+	1	0	FMNL1	40677173	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.770000	0.68873	2.328000	0.79073	0.462000	0.41574	CCG		0.672	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		3	44	0	0	0	0.004672	0	3	44				
HOXB2	3212	broad.mit.edu	37	17	46622233	46622233	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:46622233C>T	ENST00000330070.4	-	1	1208	c.41G>A	c.(40-42)aGc>aAc	p.S14N	HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	14					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S14N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CGACGGCTGGCTGTTTATAAA	0.532																																							uc002inm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(40-42)AGC>AAC		homeobox B2							46.0	54.0	51.0					17																	46622233		2203	4300	6503	SO:0001583	missense	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46622233C>T		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.41G>A	17.37:g.46622233C>T	ENSP00000331741:p.Ser14Asn						p.S14N	NM_002145	NP_002136	P14652	HXB2_HUMAN			1	161	-			14					P10913|P17485	Missense_Mutation	SNP	ENST00000330070.4	37	c.41G>A	CCDS11527.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009274	0.93346	.	.	ENSG00000173917	ENST00000330070	D	0.92348	-3.02	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.95020	0.8388	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95432	0.8517	10	0.87932	D	0	.	16.8006	0.85613	0.0:1.0:0.0:0.0	.	14	P14652	HXB2_HUMAN	N	14	ENSP00000331741:S14N	ENSP00000331741:S14N	S	-	2	0	HOXB2	43977232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.197000	0.77814	2.560000	0.86352	0.650000	0.86243	AGC		0.532	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			15	76	0	0	0	0.00499	0	15	76				
BRIP1	83990	broad.mit.edu	37	17	59760697	59760697	+	Missense_Mutation	SNP	G	G	A	rs587781819		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:59760697G>A	ENST00000259008.2	-	20	3977	c.3710C>T	c.(3709-3711)tCt>tTt	p.S1237F		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1237					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)	p.S1237F(2)		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						TTTGGAAGGAGATGGTTTAAA	0.294			"""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			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3709-3711)TCT>TTT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							65.0	66.0	66.0					17																	59760697		2202	4293	6495	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.chr17:59760697G>A	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.3710C>T	17.37:g.59760697G>A	ENSP00000259008:p.Ser1237Phe						p.S1237F	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			20	3851	-			1237					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.3710C>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	4.429	0.079422	0.08533	.	.	ENSG00000136492	ENST00000259008	T	0.77620	-1.11	4.4	-1.05	0.10036	.	5.933950	0.00520	N	0.000182	T	0.59729	0.2215	N	0.19112	0.55	0.09310	N	1	B	0.33299	0.407	B	0.31337	0.128	T	0.48293	-0.9048	9	.	.	.	.	1.4689	0.02411	0.3343:0.1379:0.3881:0.1397	.	1237	Q9BX63	FANCJ_HUMAN	F	1237	ENSP00000259008:S1237F	.	S	-	2	0	BRIP1	57115479	0.063000	0.20901	0.002000	0.10522	0.216000	0.24613	0.373000	0.20484	-0.029000	0.13827	0.563000	0.77884	TCT		0.294	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		23	81	0	0	0	0.00333	0	23	81				
TBC1D3P2	440452	broad.mit.edu	37	17	60348783	60348783	+	IGR	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:60348783C>G	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CACATCGGGCCCCGGATGTTC	0.552																																							uc002izq.2		NA																	0					0						c.(322-324)GGC>CGC		SubName: Full=Putative uncharacterized protein TBC1D3E;																																				SO:0001628	intergenic_variant	440452							g.chr17:60348783C>G																													17.37:g.60348783C>G						TBC1D3P2_uc010woz.1_RNA|uc010wpa.1_5'Flank	p.G108R							6	434	-									Missense_Mutation	SNP	ENST00000602932.1	37	c.322G>C		.	.	.	.	.	.	.	.	.	.	.	3.621	-0.077524	0.07184	.	.	ENSG00000188755	ENST00000339120	.	.	.	.	.	.	.	0.064020	0.64402	U	0.000008	T	0.65101	0.2659	.	.	.	.	.	.	D	0.89917	1.0	D	0.85130	0.997	T	0.68918	-0.5282	6	0.87932	D	0	.	5.8178	0.18506	0.0:0.999:0.0:0.001	.	108	F8WD16	.	R	108	.	ENSP00000339793:G108R	G	-	1	0	AC053481.1	57703565	0.998000	0.40836	0.000000	0.03702	0.000000	0.00434	2.309000	0.43699	-0.000000	0.14550	0.000000	0.15137	GGC		0.552	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			21	69	0	0	0	0.004878	0	21	69				
USP36	57602	broad.mit.edu	37	17	76831480	76831480	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:76831480G>A	ENST00000542802.3	-	4	800	c.357C>T	c.(355-357)cgC>cgT	p.R119R	USP36_ENST00000590546.2_Silent_p.R119R|USP36_ENST00000589424.1_Silent_p.R119R|USP36_ENST00000312010.6_Silent_p.R119R			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	119					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.R119R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTGCGCCCACGCGGAAGACCC	0.592																																							uc002jvz.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|breast(1)|kidney(1)	5						c.(355-357)CGC>CGT		ubiquitin specific peptidase 36							148.0	99.0	115.0					17																	76831480		2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76831480G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.357C>T	17.37:g.76831480G>A						USP36_uc002jwa.1_Silent_p.R119R|USP36_uc002jwd.1_Silent_p.R119R	p.R119R	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		4	682	-			119					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.357C>T	CCDS32755.1																																																																																				0.592	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		13	16	0	0	0	0.004007	0	13	16				
LAMA1	284217	broad.mit.edu	37	18	7008579	7008579	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:7008579T>A	ENST00000389658.3	-	28	4123	c.4030A>T	c.(4030-4032)Aga>Tga	p.R1344*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1344	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				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)	p.R1344*(1)		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)				TCAGCCTTTCTGCCAACCTCC	0.443																																							uc002knm.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(4030-4032)AGA>TGA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						124.0	114.0	118.0					18																	7008579		2203	4300	6503	SO:0001587	stop_gained	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.chr18:7008579T>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.4030A>T	18.37:g.7008579T>A	ENSP00000374309:p.Arg1344*					LAMA1_uc010wzj.1_Nonsense_Mutation_p.R820*	p.R1344*	NM_005559	NP_005550	P25391	LAMA1_HUMAN			28	4124	-		Colorectal(10;0.172)	1344			Laminin IV type A 2.			Nonsense_Mutation	SNP	ENST00000389658.3	37	c.4030A>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	44	10.708237	0.99454	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.47	0.42	0.16444	.	0.713994	0.12471	N	0.466036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	4.002	0.09584	0.0:0.3065:0.1819:0.5116	.	.	.	.	X	1344	.	ENSP00000374309:R1344X	R	-	1	2	LAMA1	6998579	0.023000	0.18921	0.839000	0.33178	0.840000	0.47671	0.031000	0.13710	0.336000	0.23639	0.523000	0.50628	AGA		0.443	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		13	68	0	0	0	0.003163	0	13	68				
LAMA1	284217	broad.mit.edu	37	18	7023336	7023336	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:7023336C>A	ENST00000389658.3	-	19	2621	c.2528G>T	c.(2527-2529)gGc>gTc	p.G843V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	843	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)	p.G843V(1)		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)				ACAAGATTCGCCAGGCACTGT	0.527																																							uc002knm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(2527-2529)GGC>GTC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						102.0	94.0	96.0					18																	7023336		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.chr18:7023336C>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.2528G>T	18.37:g.7023336C>A	ENSP00000374309:p.Gly843Val					LAMA1_uc010wzj.1_Missense_Mutation_p.G319V	p.G843V	NM_005559	NP_005550	P25391	LAMA1_HUMAN			19	2622	-		Colorectal(10;0.172)	843			Laminin EGF-like 7.			Missense_Mutation	SNP	ENST00000389658.3	37	c.2528G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267150	0.59540	.	.	ENSG00000101680	ENST00000389658	T	0.62788	-0.0	5.47	5.47	0.80525	EGF-like, laminin (4);	0.146210	0.45361	D	0.000376	D	0.86331	0.5907	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89314	0.3635	10	0.49607	T	0.09	.	19.336	0.94319	0.0:1.0:0.0:0.0	.	843	P25391	LAMA1_HUMAN	V	843	ENSP00000374309:G843V	ENSP00000374309:G843V	G	-	2	0	LAMA1	7013336	1.000000	0.71417	0.823000	0.32752	0.205000	0.24178	6.023000	0.70848	2.578000	0.87016	0.643000	0.83706	GGC		0.527	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		9	32	1	0	1.76689e-08	0.006214	2.1955e-08	9	32				
CEP192	55125	broad.mit.edu	37	18	13030600	13030600	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:13030600A>T	ENST00000325971.8	+	11	1607	c.14A>T	c.(13-15)gAt>gTt	p.D5V	CEP192_ENST00000506447.1_Missense_Mutation_p.R509S|CEP192_ENST00000430049.2_Missense_Mutation_p.R104S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	5					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.R509S(1)|p.D5V(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGACTTCAGATCTGGTTGTA	0.343																																							uc010xac.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1525-1527)AGA>AGT		centrosomal protein 192kDa							85.0	83.0	84.0					18																	13030600		2202	4298	6500	SO:0001583	missense	55125							g.chr18:13030600A>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.14A>T	18.37:g.13030600A>T	ENSP00000317156:p.Asp5Val					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R104S|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Intron	p.R509S	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			11	1607	+			509					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.1527A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.17|18.17	3.563889|3.563889	0.65651|0.65651	.|.	.|.	ENSG00000101639|ENSG00000101639	ENST00000325971|ENST00000506447;ENST00000430049	T|T;T	0.07800|0.09073	3.16|3.25;3.02	5.17|5.17	2.79|2.79	0.32731|0.32731	.|.	.|.	.|.	.|.	.|.	T|T	0.05868|0.05868	0.0153|0.0153	L|L	0.27053|0.27053	0.805|0.805	0.36554|0.36554	D|D	0.872029|0.872029	.|P;P	.|0.36535	.|0.557;0.557	.|B;B	.|0.36766	.|0.232;0.232	T|T	0.46005|0.46005	-0.9222|-0.9222	7|9	0.54805|0.27082	T|T	0.06|0.32	-0.7684|-0.7684	7.3418|7.3418	0.26641|0.26641	0.8221:0.0:0.1779:0.0|0.8221:0.0:0.1779:0.0	.|.	.|104;509	.|C9JT09;E9PF99	.|.;.	V|S	5|509;104	ENSP00000317156:D5V|ENSP00000427550:R509S;ENSP00000389190:R104S	ENSP00000317156:D5V|ENSP00000389190:R104S	D|R	+|+	2|3	0|2	CEP192|CEP192	13020600|13020600	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	0.991000|0.991000	0.29654|0.29654	0.925000|0.925000	0.37094|0.37094	0.460000|0.460000	0.39030|0.39030	GAT|AGA		0.343	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		11	93	0	0	0	0.001368	0	11	93				
LDLRAD4	753	broad.mit.edu	37	18	13645402	13645402	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:13645402A>C	ENST00000359446.5	+	6	1135	c.667A>C	c.(667-669)Atg>Ctg	p.M223L	LDLRAD4_ENST00000592991.1_Missense_Mutation_p.M125L|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.M146L|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.M205L|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.M186L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.M168L|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.M223L|RP11-701H16.4_ENST00000588397.1_RNA	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	223					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.M223L(1)|p.M186L(1)									AGACATTGCTATGTATAGCGG	0.577																																							uc002ksa.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(667-669)ATG>CTG		hypothetical protein LOC753 isoform alpha 1							73.0	80.0	77.0					18																	13645402		2203	4300	6503	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13645402A>C	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.667A>C	18.37:g.13645402A>C	ENSP00000352420:p.Met223Leu					C18orf1_uc002ksb.2_Missense_Mutation_p.M205L|C18orf1_uc002kse.2_Missense_Mutation_p.M186L|C18orf1_uc002ksf.2_Missense_Mutation_p.M168L|C18orf1_uc002ksg.1_Missense_Mutation_p.M146L|C18orf1_uc002ksh.1_Missense_Mutation_p.M165L|C18orf1_uc002ksi.1_Missense_Mutation_p.M147L	p.M223L	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	7	1335	+			223			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.667A>C	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	A	4.419	0.077542	0.08485	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.25085	1.84;1.82	4.85	-4.23	0.03789	.	0.680922	0.15979	N	0.235411	T	0.14960	0.0361	L	0.55481	1.735	0.09310	N	1	B;B;B;B;B;B	0.16603	0.004;0.011;0.004;0.018;0.005;0.006	B;B;B;B;B;B	0.17722	0.003;0.007;0.002;0.019;0.003;0.003	T	0.24977	-1.0145	10	0.22706	T	0.39	1.6841	0.7682	0.01019	0.2778:0.2558:0.2889:0.1775	.	147;165;168;186;205;223	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	L	223;205;186;168;165;147	ENSP00000354753:M223L;ENSP00000382741:M205L	ENSP00000352420:M186L	M	+	1	0	C18orf1	13635402	0.077000	0.21312	0.000000	0.03702	0.464000	0.32679	0.585000	0.23879	-0.342000	0.08363	0.533000	0.62120	ATG		0.577	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		8	86	0	0	0	0.004482	0	8	86				
LAMA3	3909	broad.mit.edu	37	18	21508618	21508618	+	Silent	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:21508618A>C	ENST00000313654.9	+	64	8566	c.8325A>C	c.(8323-8325)ggA>ggC	p.G2775G	LAMA3_ENST00000269217.6_Silent_p.G1166G|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.G1110G|LAMA3_ENST00000399516.3_Silent_p.G2719G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2775	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.G1166G(1)|p.G2775G(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCTCCAGAGGAGGACAATTGA	0.428																																							uc002kuq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(8323-8325)GGA>GGC		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						205.0	173.0	184.0					18																	21508618		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21508618A>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8325A>C	18.37:g.21508618A>C						LAMA3_uc002kur.2_Silent_p.G2719G|LAMA3_uc002kus.3_Silent_p.G1166G|LAMA3_uc002kut.3_Silent_p.G1110G	p.G2775G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			64	8411	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2775			Laminin G-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.8325A>C	CCDS42419.1																																																																																				0.428	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		41	333	0	0	0	0.00361	0	41	333				
ZNF521	25925	broad.mit.edu	37	18	22805191	22805191	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:22805191C>A	ENST00000361524.3	-	4	2839	c.2691G>T	c.(2689-2691)atG>atT	p.M897I	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.M677I|ZNF521_ENST00000538137.2_Missense_Mutation_p.M897I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	897					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.M897I(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCAAAGTTTCCATAGTGTAGG	0.502			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(2689-2691)ATG>ATT		zinc finger protein 521							117.0	111.0	113.0					18																	22805191		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805191C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2691G>T	18.37:g.22805191C>A	ENSP00000354794:p.Met897Ile					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.M897I|ZNF521_uc002kvl.2_Missense_Mutation_p.M677I	p.M897I	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2938	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		897			C2H2-type 21; degenerate.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2691G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175409	0.38413	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.27256	1.68;1.68	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.46885	1.475	0.48185	D	0.999605	D	0.57571	0.98	D	0.70227	0.968	T	0.03483	-1.1032	10	0.22706	T	0.39	-35.0787	20.1184	0.97949	0.0:1.0:0.0:0.0	.	897	Q96K83	ZN521_HUMAN	I	897;931;897	ENSP00000354794:M897I;ENSP00000382352:M897I	ENSP00000354794:M897I	M	-	3	0	ZNF521	21059189	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.769000	0.95229	0.655000	0.94253	ATG		0.502	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		28	122	1	0	3.73148e-12	0.007291	5.12738e-12	28	122				
DSG2	1829	broad.mit.edu	37	18	29099836	29099836	+	Missense_Mutation	SNP	G	G	T	rs397516702		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:29099836G>T	ENST00000261590.8	+	3	361	c.152G>T	c.(151-153)tGg>tTg	p.W51L	DSG2_ENST00000585206.1_Missense_Mutation_p.W51L	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W51L(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AAGCGCGCCTGGATCACCGCC	0.433																																							uc002kwu.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(151-153)TGG>TTG		desmoglein 2 preproprotein							70.0	72.0	72.0					18																	29099836		1882	4111	5993	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29099836G>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.152G>T	18.37:g.29099836G>T	ENSP00000261590:p.Trp51Leu						p.W51L	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		3	340	+			51			Extracellular (Potential).|Cadherin 1.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.152G>T	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216828	0.39201	.	.	ENSG00000046604	ENST00000261590	T	0.76839	-1.05	5.21	5.21	0.72293	Cadherin-like (1);	0.000000	0.37219	U	0.002196	D	0.88651	0.6494	M	0.80746	2.51	0.48087	D	0.999585	D	0.89917	1.0	D	0.87578	0.998	D	0.89970	0.4093	10	0.87932	D	0	.	17.299	0.87177	0.0:0.0:1.0:0.0	.	51	Q14126	DSG2_HUMAN	L	51	ENSP00000261590:W51L	ENSP00000261590:W51L	W	+	2	0	DSG2	27353834	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	6.358000	0.73055	2.589000	0.87451	0.561000	0.74099	TGG		0.433	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		95	41	1	0	9.15355e-43	0.00361	1.71458e-42	95	41				
ASXL3	80816	broad.mit.edu	37	18	31323007	31323007	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:31323007G>T	ENST00000269197.5	+	12	3195	c.3195G>T	c.(3193-3195)cgG>cgT	p.R1065R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1065	Ala-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R772R(2)|p.R1065R(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACAAGCTCGGGCCCAGCGAG	0.612																																							uc010dmg.1		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)|pancreas(1)	3						c.(3193-3195)CGG>CGT		additional sex combs like 3							23.0	25.0	25.0					18																	31323007		1868	4084	5952	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323007G>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3195G>T	18.37:g.31323007G>T						ASXL3_uc002kxq.2_Silent_p.R772R	p.R1065R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3250	+			1065			Ala-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.3195G>T	CCDS45847.1																																																																																				0.612	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			8	49	1	0	0.00448238	0.004482	0.00476055	8	49				
SLC14A2	8170	broad.mit.edu	37	18	43247835	43247835	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:43247835C>A	ENST00000255226.6	+	14	2571	c.1755C>A	c.(1753-1755)ctC>ctA	p.L585L	SLC14A2_ENST00000589658.1_Silent_p.L62L|SLC14A2_ENST00000586448.1_Silent_p.L585L|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	585					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.L585L(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACTGGGTCCTCCGAGGCACAT	0.577																																							uc010dnj.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1753-1755)CTC>CTA		solute carrier family 14 (urea transporter),							145.0	134.0	138.0					18																	43247835		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43247835C>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1755C>A	18.37:g.43247835C>A						SLC14A2_uc002lbe.2_Silent_p.L585L	p.L585L	NM_007163	NP_009094	Q15849	UT2_HUMAN			15	2076	+			585					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.1755C>A	CCDS11924.1																																																																																				0.577	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			120	42	1	0	3.13773e-49	0.00361	5.95142e-49	120	42				
LIPG	9388	broad.mit.edu	37	18	47108730	47108730	+	Splice_Site	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:47108730A>T	ENST00000261292.4	+	7	1314		c.e7-1		LIPG_ENST00000427224.2_Splice_Site	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial						cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.?(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CTGTCACTGCAGTTTACCATT	0.448																																					Pancreas(126;280 1778 12814 26243 34948)	Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e7-2		endothelial lipase precursor							136.0	111.0	120.0					18																	47108730		2203	4300	6503	SO:0001630	splice_region_variant	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47108730A>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1037-1A>T	18.37:g.47108730A>T						LIPG_uc010xdh.1_Splice_Site_p.V272_splice	p.V346_splice	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			7	1289	+								B0LPG6|Q6P9C8|Q6UW82	Splice_Site	SNP	ENST00000261292.4	37	c.1037_splice	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278531	0.59758	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIPG	45362728	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	8.667000	0.91153	2.333000	0.79357	0.482000	0.46254	.		0.448	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033	Intron	81	47	0	0	0	0.00361	0	81	47				
MYO5B	4645	broad.mit.edu	37	18	47455928	47455928	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:47455928C>G	ENST00000285039.7	-	17	2343	c.2044G>C	c.(2044-2046)Ggg>Cgg	p.G682R		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	682	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.G682R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCAACACCCCGCAGGCTCTG	0.527																																							uc002leb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2044-2046)GGG>CGG		myosin VB							29.0	30.0	30.0					18																	47455928		1925	4134	6059	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47455928C>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2044G>C	18.37:g.47455928C>G	ENSP00000285039:p.Gly682Arg						p.G682R	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	17	2332	-			682			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.2044G>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611745	0.87258	.	.	ENSG00000167306	ENST00000285039	D	0.98701	-5.08	5.4	5.4	0.78164	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99600	0.9855	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97544	1.0088	10	0.87932	D	0	.	18.1114	0.89537	0.0:1.0:0.0:0.0	.	682	Q9ULV0	MYO5B_HUMAN	R	682	ENSP00000285039:G682R	ENSP00000285039:G682R	G	-	1	0	MYO5B	45709926	1.000000	0.71417	0.764000	0.31436	0.695000	0.40330	7.111000	0.77077	2.814000	0.96858	0.563000	0.77884	GGG		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			16	8	0	0	0	0.008871	0	16	8				
MAPK4	5596	broad.mit.edu	37	18	48256146	48256147	+	Missense_Mutation	DNP	CG	CG	TC			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:48256146_48256147CG>TC	ENST00000400384.2	+	6	2722_2723	c.1686_1687CG>TC	c.(1684-1689)ggCGac>ggTCac	p.D563H	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Missense_Mutation_p.D352H	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	563					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.D563H(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ATAAACTGGGCGACCTCAATGG	0.668																																							uc002lev.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)	6						c.(1684-1689)GGCGAC>GGTCAC		mitogen-activated protein kinase 4																																				SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48256146_48256147CG>TC	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	Exception_encountered	18.37:g.48256146_48256147delinsTC	ENSP00000383234:p.Asp563His					MAPK4_uc010xdm.1_Missense_Mutation_p.D352H|MAPK4_uc010doz.2_3'UTR	p.D563H	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	6	2686_2687	+		Colorectal(6;0.0297)	563					A1A4C4|Q0VG04	Missense_Mutation	DNP	ENST00000400384.2	37	c.1686_1687CG>TC	CCDS42437.1																																																																																				0.668	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		9	6	0	0	0	0.004672	0	9	6				
ALPK2	115701	broad.mit.edu	37	18	56184325	56184325	+	Missense_Mutation	SNP	C	C	T	rs374271622		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:56184325C>T	ENST00000361673.3	-	9	5968	c.5755G>A	c.(5755-5757)Gcc>Acc	p.A1919T		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1919	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A1919T(1)|p.A1280T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCCTCCGTGGCGATCTGACCA	0.547																																							uc002lhj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(5755-5757)GCC>ACC		heart alpha-kinase		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	107.0	99.0	102.0		5755	5.0	1.0	18		102	0,8600		0,0,4300	no	missense	ALPK2	NM_052947.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1919/2171	56184325	1,13005	2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56184325C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5755G>A	18.37:g.56184325C>T	ENSP00000354991:p.Ala1919Thr						p.A1919T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			9	5969	-			1919			Alpha-type protein kinase.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.5755G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808309	0.70797	2.27E-4	0.0	ENSG00000198796	ENST00000361673	T	0.46819	0.86	5.91	4.96	0.65561	MHCK/EF2 kinase (2);Protein kinase-like domain (1);	0.412789	0.24132	N	0.041250	T	0.27134	0.0665	N	0.19112	0.55	0.23095	N	0.998304	P	0.44006	0.824	B	0.35073	0.195	T	0.20672	-1.0268	10	0.59425	D	0.04	-8.109	6.076	0.19915	0.2038:0.6511:0.0:0.1451	.	1919	Q86TB3	ALPK2_HUMAN	T	1919	ENSP00000354991:A1919T	ENSP00000354991:A1919T	A	-	1	0	ALPK2	54335305	0.041000	0.20044	0.984000	0.44739	0.700000	0.40528	0.480000	0.22244	1.279000	0.44446	0.655000	0.94253	GCC		0.547	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		5	93	0	0	0	0.000602	0	5	93				
CDH20	28316	broad.mit.edu	37	18	59195340	59195340	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:59195340C>A	ENST00000262717.4	+	7	1556	c.1158C>A	c.(1156-1158)ccC>ccA	p.P386P	CDH20_ENST00000538374.1_Silent_p.P386P|CDH20_ENST00000536675.2_Silent_p.P386P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	386	Cadherin 3. {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)	p.P386P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGGACGAGCCCCCTGTGTTTG	0.512																																							uc010dps.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(1156-1158)CCC>CCA		cadherin 20, type 2 preproprotein							158.0	153.0	154.0					18																	59195340		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59195340C>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.1158C>A	18.37:g.59195340C>A						CDH20_uc002lif.2_Silent_p.P380P	p.P386P	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			6	1170	+		Colorectal(73;0.186)	386			Extracellular (Potential).|Cadherin 3.		Q495S3	Silent	SNP	ENST00000262717.4	37	c.1158C>A	CCDS11977.1																																																																																				0.512	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		28	216	1	0	3.65163e-15	0.00632	5.27769e-15	28	216				
SERPINB7	8710	broad.mit.edu	37	18	61460397	61460397	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:61460397A>T	ENST00000398019.2	+	4	547	c.222A>T	c.(220-222)tcA>tcT	p.S74S	SERPINB7_ENST00000546027.1_Silent_p.S74S|SERPINB7_ENST00000336429.2_Silent_p.S74S|SERPINB7_ENST00000540675.1_Silent_p.S57S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	74					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S74S(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AATAACAGTCAGGGCTCCAGT	0.313																																							uc002ljl.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(1)	3						c.(220-222)TCA>TCT		serine (or cysteine) proteinase inhibitor, clade							67.0	66.0	66.0					18																	61460397		2203	4300	6503	SO:0001819	synonymous_variant	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61460397A>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.222A>T	18.37:g.61460397A>T						SERPINB7_uc002ljm.2_Silent_p.S74S|SERPINB7_uc010xet.1_Silent_p.S57S|SERPINB7_uc010dqg.2_Silent_p.S74S	p.S74S	NM_001040147	NP_001035237	O75635	SPB7_HUMAN			4	318	+		Esophageal squamous(42;0.129)	74					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	c.222A>T	CCDS11988.1																																																																																				0.313	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		6	79	0	0	0	0.001984	0	6	79				
NETO1	81832	broad.mit.edu	37	18	70417782	70417782	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:70417782G>C	ENST00000327305.6	-	9	1713	c.1056C>G	c.(1054-1056)atC>atG	p.I352M	NETO1_ENST00000299430.2_Missense_Mutation_p.I351M|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.I352M	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	352					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)		p.I352M(1)		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)		GGATGATCACGATGCAGGAAG	0.463																																							uc002lkw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1054-1056)ATC>ATG		neuropilin- and tolloid-like protein 1 isoform 3							87.0	68.0	74.0					18																	70417782		2203	4299	6502	SO:0001583	missense	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.chr18:70417782G>C	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.1056C>G	18.37:g.70417782G>C	ENSP00000313088:p.Ile352Met					NETO1_uc002lkx.1_Missense_Mutation_p.I351M|NETO1_uc002lky.1_Missense_Mutation_p.I352M	p.I352M	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1340	-		Esophageal squamous(42;0.129)	352			Helical; (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1056C>G	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214056	0.58452	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.25414	1.8;1.8	5.17	-2.94	0.05581	.	0.000000	0.64402	D	0.000011	T	0.35682	0.0940	L	0.59436	1.845	0.80722	D	1	P;D	0.56521	0.57;0.976	P;P	0.61940	0.605;0.896	T	0.17531	-1.0366	10	0.87932	D	0	-11.031	8.7158	0.34410	0.6738:0.1075:0.2186:0.0	.	351;352	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	M	352;351	ENSP00000313088:I352M;ENSP00000299430:I351M	ENSP00000299430:I351M	I	-	3	3	NETO1	68568762	0.272000	0.24172	0.985000	0.45067	0.945000	0.59286	-0.221000	0.09202	-0.488000	0.06726	0.455000	0.32223	ATC		0.463	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		62	16	0	0	0	0.00361	0	62	16				
MIER2	54531	broad.mit.edu	37	19	336131	336131	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:336131G>T	ENST00000264819.4	-	2	62	c.52C>A	c.(52-54)Ctc>Atc	p.L18I	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	18					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L18I(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		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)		CTGTGCTCGAGGCAGGAGACC	0.657																																							uc002lok.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(52-54)CTC>ATC		mesoderm induction early response 1, family							83.0	63.0	70.0					19																	336131		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:336131G>T	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.52C>A	19.37:g.336131G>T	ENSP00000264819:p.Leu18Ile						p.L18I	NM_017550	NP_060020	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	61	-		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)	18					Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.52C>A	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213677	0.58452	.	.	ENSG00000105556	ENST00000264819	T	0.14766	2.48	5.68	4.58	0.56647	.	1.789120	0.03672	N	0.244133	T	0.19967	0.0480	L	0.51422	1.61	0.27831	N	0.941469	P	0.47106	0.89	B	0.42625	0.393	T	0.24476	-1.0159	10	0.30854	T	0.27	-20.9116	13.5777	0.61883	0.0:0.1554:0.8446:0.0	.	18	Q8N344	MIER2_HUMAN	I	18	ENSP00000264819:L18I	ENSP00000264819:L18I	L	-	1	0	MIER2	287131	1.000000	0.71417	0.996000	0.52242	0.692000	0.40212	3.846000	0.55888	2.685000	0.91497	0.561000	0.74099	CTC		0.657	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		21	26	1	0	2.39556e-15	0.00278	3.50264e-15	21	26				
MED16	10025	broad.mit.edu	37	19	881589	881589	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:881589C>A	ENST00000589119.1	-	6	1110	c.1111G>T	c.(1111-1113)Gcc>Tcc	p.A371S	MED16_ENST00000269814.4_Missense_Mutation_p.A371S|MED16_ENST00000325464.1_Missense_Mutation_p.A371S|MED16_ENST00000606828.1_Intron|MED16_ENST00000312090.6_Missense_Mutation_p.A371S|MED16_ENST00000395808.3_Missense_Mutation_p.A371S			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	371					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.A371S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTCGCTGGCCACCTTGAGG	0.657																																							uc002lqd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)GCC>TCC		mediator complex subunit 16							80.0	70.0	73.0					19																	881589		2203	4293	6496	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:881589C>A	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1111G>T	19.37:g.881589C>A	ENSP00000464810:p.Ala371Ser					MED16_uc010drw.1_Missense_Mutation_p.A196S|MED16_uc002lqe.2_Missense_Mutation_p.A360S|MED16_uc002lqf.2_Missense_Mutation_p.A360S|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.A360S|MED16_uc010xfx.1_Missense_Mutation_p.A216S|MED16_uc010xfy.1_Intron	p.A371S	NM_005481	NP_005472	Q9Y2X0	MED16_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)	7	1262	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	371					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.1111G>T	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562540	0.86335	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000424039	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.46	4.46	0.54185	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.997;1.0;0.998;0.999	D;D;D;D;D	0.83275	0.99;0.992;0.996;0.994;0.996	T	0.13791	-1.0496	10	0.24483	T	0.36	-13.8235	16.1288	0.81412	0.0:1.0:0.0:0.0	.	371;371;371;371;371	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	S	371;371;371;371;371;227;371	ENSP00000325612:A371S;ENSP00000308528:A371S;ENSP00000379153:A371S;ENSP00000269814:A371S	ENSP00000269814:A371S	A	-	1	0	MED16	832589	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.161000	0.77505	2.036000	0.60181	0.561000	0.74099	GCC		0.657	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		62	24	1	0	5.86059e-21	0.00361	9.49037e-21	62	24				
GTF2F1	2962	broad.mit.edu	37	19	6380419	6380419	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:6380419T>G	ENST00000394456.5	-	13	1891	c.1427A>C	c.(1426-1428)aAg>aCg	p.K476T	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_Missense_Mutation_p.K391T	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	476					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|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)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.K476T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GGTCTGGAACTTTTTCAGCAG	0.587																																							uc002meq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1426-1428)AAG>ACG		general transcription factor IIF, polypeptide 1,							201.0	189.0	193.0					19																	6380419		2203	4300	6503	SO:0001583	missense	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6380419T>G		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.1427A>C	19.37:g.6380419T>G	ENSP00000377969:p.Lys476Thr					GTF2F1_uc010xjb.1_Missense_Mutation_p.K297T|GTF2F1_uc010xjc.1_Missense_Mutation_p.K391T	p.K476T	NM_002096	NP_002087	P35269	T2FA_HUMAN			13	1712	-			476					B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	c.1427A>C	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438281	0.83885	.	.	ENSG00000125651	ENST00000394456;ENST00000429701	T;T	0.59638	0.25;0.25	4.16	4.16	0.48862	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.992;0.998;0.998	T	0.79904	-0.1606	10	0.66056	D	0.02	-45.3032	12.6065	0.56527	0.0:0.0:0.0:1.0	.	391;374;476	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	T	476;391	ENSP00000377969:K476T;ENSP00000392107:K391T	ENSP00000377969:K476T	K	-	2	0	GTF2F1	6331419	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.236000	0.78154	1.875000	0.54330	0.533000	0.62120	AAG		0.587	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		7	121	0	0	0	0.001984	0	7	121				
MAST1	22983	broad.mit.edu	37	19	12963015	12963015	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:12963015C>A	ENST00000251472.4	+	9	1002	c.963C>A	c.(961-963)ccC>ccA	p.P321P	MAST1_ENST00000591495.1_Silent_p.P317P	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.P321P(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGGACATCCCCCGCTACATCA	0.667																																							uc002mvm.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(961-963)CCC>CCA		microtubule associated serine/threonine kinase							65.0	70.0	68.0					19																	12963015		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12963015C>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.963C>A	19.37:g.12963015C>A						MAST1_uc002mvk.2_Silent_p.P317P	p.P321P	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			9	1091	+			321						Silent	SNP	ENST00000251472.4	37	c.963C>A	CCDS32921.1																																																																																				0.667	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		51	27	1	0	7.47603e-22	0.00361	1.23453e-21	51	27				
ZNF626	199777	broad.mit.edu	37	19	20808333	20808333	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:20808333C>A	ENST00000601440.1	-	4	496	c.350G>T	c.(349-351)tGt>tTt	p.C117F	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C117F(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						CACACTTATACATCCTTTTTT	0.338																																							uc002npb.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(349-351)TGT>TTT		zinc finger protein 626 isoform 1							88.0	93.0	91.0					19																	20808333		2170	4283	6453	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808333C>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.350G>T	19.37:g.20808333C>A	ENSP00000469958:p.Cys117Phe					ZNF626_uc002npc.1_Missense_Mutation_p.C41F	p.C117F	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	500	-			117					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.350G>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.667	-0.803541	0.02841	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-1.8	0.07907	.	.	.	.	.	T	0.46288	0.1385	M	0.82323	2.585	0.09310	N	1	B	0.18741	0.03	B	0.24394	0.053	T	0.45086	-0.9285	8	0.15066	T	0.55	.	8.9921	0.36030	0.0:0.767:0.233:0.0	.	117	Q68DY1	ZN626_HUMAN	F	117;41;117	.	ENSP00000445201:C117F	C	-	2	0	ZNF626	20600173	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.687000	0.00833	-2.507000	0.00506	-2.536000	0.00181	TGT		0.338	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		43	27	1	0	1.03325e-14	0.011902	1.47915e-14	43	27				
ZFP30	22835	broad.mit.edu	37	19	38126960	38126960	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:38126960C>A	ENST00000351218.2	-	6	1039	c.482G>T	c.(481-483)gGg>gTg	p.G161V	ZFP30_ENST00000514101.2_Missense_Mutation_p.G161V|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.G161V	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	161					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)	p.G161V(2)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCACATTCCCCACATTCGTA	0.393																																							uc002ogv.1		NA																	2	Substitution - Missense(2)		lung(1)|soft_tissue(1)		0						c.(481-483)GGG>GTG		zinc finger protein 30 homolog							123.0	130.0	128.0					19																	38126960		2197	4299	6496	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38126960C>A	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.482G>T	19.37:g.38126960C>A	ENSP00000343581:p.Gly161Val					ZFP30_uc002ogw.1_Missense_Mutation_p.G161V|ZFP30_uc002ogx.1_Missense_Mutation_p.G161V|ZFP30_uc010xtt.1_Missense_Mutation_p.G160V	p.G161V	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	998	-			161			C2H2-type 1.		Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.482G>T	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996234	0.19043	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.07444	3.19;3.19;3.19	3.79	0.738	0.18319	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.700918	0.11758	N	0.532328	T	0.04452	0.0122	N	0.17082	0.46	0.18873	N	0.999987	B;B	0.21688	0.059;0.059	B;B	0.21917	0.037;0.037	T	0.41610	-0.9499	10	0.62326	D	0.03	.	0.6671	0.00853	0.3454:0.3016:0.1685:0.1845	.	161;161	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	V	161;161;161;160	ENSP00000343581:G161V;ENSP00000422930:G161V;ENSP00000375988:G161V	ENSP00000343581:G161V	G	-	2	0	ZFP30	42818800	0.000000	0.05858	0.996000	0.52242	0.977000	0.68977	-1.173000	0.03108	0.358000	0.24211	0.655000	0.94253	GGG		0.393	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		43	91	1	0	2.215e-12	0.011902	3.06599e-12	43	91				
RYR1	6261	broad.mit.edu	37	19	38995661	38995661	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:38995661G>A	ENST00000359596.3	+	52	8250	c.8250G>A	c.(8248-8250)aaG>aaA	p.K2750K	RYR1_ENST00000355481.4_Silent_p.K2750K|RYR1_ENST00000360985.3_Silent_p.K2750K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2750	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.K2750K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCCCGGAGAAGCTGGACTCCT	0.562																																							uc002oit.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(8248-8250)AAG>AAA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						86.0	82.0	84.0					19																	38995661		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38995661G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8250G>A	19.37:g.38995661G>A						RYR1_uc002oiu.2_Silent_p.K2750K|RYR1_uc002oiv.1_5'UTR	p.K2750K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		52	8380	+	all_cancers(60;7.91e-06)		2750			5.|Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.8250G>A	CCDS33011.1																																																																																				0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			10	63	0	0	0	0.010729	0	10	63				
MAP3K10	4294	broad.mit.edu	37	19	40710446	40710446	+	Silent	SNP	C	C	T	rs556924077		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:40710446C>T	ENST00000253055.3	+	3	1206	c.918C>T	c.(916-918)atC>atT	p.I306I	MAP3K10_ENST00000593906.1_3'UTR|AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.I306I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACCGTGAGATCGACGCCTTGG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18990	0.0		0.0	False		,,,				2504	0.0						uc002ona.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|skin(1)|pancreas(1)	6						c.(916-918)ATC>ATT		mitogen-activated protein kinase kinase kinase							103.0	68.0	80.0					19																	40710446		2203	4300	6503	SO:0001819	synonymous_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40710446C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.918C>T	19.37:g.40710446C>T						MAP3K10_uc002onb.2_5'UTR	p.I306I	NM_002446	NP_002437	Q02779	M3K10_HUMAN			3	1206	+			306			Protein kinase.		Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	c.918C>T	CCDS12549.1																																																																																				0.667	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		21	32	0	0	0	0.002299	0	21	32				
PSG9	5678	broad.mit.edu	37	19	43763045	43763045	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:43763045C>A	ENST00000270077.3	-	4	1048	c.952G>T	c.(952-954)Ggc>Tgc	p.G318C	PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.G225C|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000418820.2_Missense_Mutation_p.G225C|PSG9_ENST00000596730.1_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	318	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.G318C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CTGCGGAGGCCACCATATCGG	0.493																																							uc002owd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(952-954)GGC>TGC		pregnancy specific beta-1-glycoprotein 9							113.0	115.0	114.0					19																	43763045		2139	4283	6422	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43763045C>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.952G>T	19.37:g.43763045C>A	ENSP00000270077:p.Gly318Cys					PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Missense_Mutation_p.G225C|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron	p.G318C	NM_002784	NP_002775	Q00887	PSG9_HUMAN			4	1051	-		Prostate(69;0.00682)	318			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.952G>T	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	7.834	0.720543	0.15372	.	.	ENSG00000183668	ENST00000270077;ENST00000443718;ENST00000435220	T;T	0.15487	2.42;2.42	1.39	-2.77	0.05877	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.20941	0.0504	N	0.24115	0.695	0.09310	N	1	D;D	0.89917	0.989;1.0	P;D	0.77004	0.897;0.989	T	0.15321	-1.0441	9	0.56958	D	0.05	.	5.7305	0.18036	0.0:0.4968:0.0:0.5032	.	225;318	E7EW65;Q00887	.;PSG9_HUMAN	C	318;225;279	ENSP00000270077:G318C;ENSP00000396753:G225C	ENSP00000270077:G318C	G	-	1	0	PSG9	48454885	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-2.021000	0.01440	-1.129000	0.02918	-1.050000	0.02344	GGC		0.493	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		64	105	1	0	6.20203e-27	0.00361	1.06381e-26	64	105				
PLAUR	5329	broad.mit.edu	37	19	44171830	44171830	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:44171830C>A	ENST00000340093.3	-	2	298	c.69G>T	c.(67-69)ctG>ctT	p.L23L	PLAUR_ENST00000221264.4_Silent_p.L23L|PLAUR_ENST00000601723.1_Silent_p.L23L|PLAUR_ENST00000339082.3_Silent_p.L23L	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	23	UPAR/Ly6 1.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.L23L(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCATGCACCGCAGGCCCCAAG	0.612																																							uc002oxf.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(67-69)CTG>CTT		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)						74.0	60.0	65.0					19																	44171830		2203	4300	6503	SO:0001819	synonymous_variant	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44171830C>A		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.69G>T	19.37:g.44171830C>A						PLAUR_uc002oxd.1_Silent_p.L23L|PLAUR_uc002oxe.1_Silent_p.L18L|PLAUR_uc002oxg.1_Silent_p.L23L	p.L23L	NM_002659	NP_002650	Q03405	UPAR_HUMAN			2	299	-		Prostate(69;0.0153)	23			UPAR/Ly6 1.		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Silent	SNP	ENST00000340093.3	37	c.69G>T	CCDS12628.1																																																																																				0.612	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		10	25	1	0	7.48243e-07	0.006214	8.88686e-07	10	25				
ZNF223	7766	broad.mit.edu	37	19	44570525	44570525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:44570525G>T	ENST00000434772.3	+	5	799	c.544G>T	c.(544-546)Gga>Tga	p.G182*	ZNF223_ENST00000591793.1_Nonsense_Mutation_p.G292*	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G182*(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGATGAGTGTGGAAAAAGCTT	0.428																																							uc002oyf.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(544-546)GGA>TGA		zinc finger protein 223							164.0	161.0	162.0					19																	44570525		2203	4300	6503	SO:0001587	stop_gained	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44570525G>T	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.544G>T	19.37:g.44570525G>T	ENSP00000401947:p.Gly182*					ZNF284_uc010ejd.2_RNA	p.G182*	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN			5	797	+		Prostate(69;0.0352)	182			C2H2-type 1.		Q15736|Q8TBJ3|Q9HCA9	Nonsense_Mutation	SNP	ENST00000434772.3	37	c.544G>T	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	G	38	7.001982	0.97994	.	.	ENSG00000178386	ENST00000434772	.	.	.	2.46	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	8.5659	0.33538	0.139:0.0:0.861:0.0	.	.	.	.	X	182	.	ENSP00000401947:G182X	G	+	1	0	ZNF223	49262365	1.000000	0.71417	0.616000	0.29078	0.935000	0.57460	3.486000	0.53215	1.360000	0.45960	0.313000	0.20887	GGA		0.428	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			65	168	1	0	4.96364e-44	0.00361	9.32076e-44	65	168				
ZNF234	10780	broad.mit.edu	37	19	44662182	44662182	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:44662182C>A	ENST00000426739.2	+	6	2271	c.2013C>A	c.(2011-2013)caC>caA	p.H671Q	ZNF234_ENST00000592437.1_Missense_Mutation_p.H671Q	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	671					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)	p.H671Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TAAGTCATCACAAAATTCATG	0.368																																							uc002oym.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2011-2013)CAC>CAA		zinc finger protein 234							58.0	59.0	58.0					19																	44662182		1952	4176	6128	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44662182C>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.2013C>A	19.37:g.44662182C>A	ENSP00000400878:p.His671Gln					ZNF234_uc002oyl.3_Missense_Mutation_p.H671Q	p.H671Q	NM_006630	NP_006621	Q14588	ZN234_HUMAN			6	2320	+		Prostate(69;0.0435)	671			C2H2-type 19.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.2013C>A	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	C	7.559	0.664350	0.14710	.	.	ENSG00000167380	ENST00000426739	T	0.50001	0.76	4.42	0.366	0.16136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21347	0.0514	N	0.08118	0	0.19575	N	0.999966	B	0.15473	0.013	B	0.13407	0.009	T	0.25293	-1.0136	9	0.02654	T	1	.	9.1903	0.37195	0.1462:0.2936:0.5601:0.0	.	671	Q14588	ZN234_HUMAN	Q	671	ENSP00000400878:H671Q	ENSP00000400878:H671Q	H	+	3	2	ZNF226	49354022	0.000000	0.05858	0.903000	0.35520	0.989000	0.77384	-0.876000	0.04201	0.470000	0.27294	0.650000	0.86243	CAC		0.368	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			24	44	1	0	1.10923e-09	0.00278	1.42778e-09	24	44				
ZNF227	7770	broad.mit.edu	37	19	44739572	44739572	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:44739572G>T	ENST00000313040.7	+	6	1194	c.989G>T	c.(988-990)gGc>gTc	p.G330V	ZNF227_ENST00000391961.2_Missense_Mutation_p.G279V|ZNF227_ENST00000589005.1_Missense_Mutation_p.G279V	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	330					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)	p.G330V(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GACAGTTGCGGCAAGGGATTC	0.388																																							uc002oyu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(988-990)GGC>GTC		zinc finger protein 227							69.0	71.0	70.0					19																	44739572		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44739572G>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.989G>T	19.37:g.44739572G>T	ENSP00000321049:p.Gly330Val					ZNF227_uc010xwu.1_Missense_Mutation_p.G279V|ZNF227_uc002oyv.2_Missense_Mutation_p.G330V|ZNF227_uc010xwv.1_Missense_Mutation_p.G279V|ZNF227_uc010xww.1_Missense_Mutation_p.G251V|ZNF227_uc002oyw.2_Missense_Mutation_p.G302V|ZNF227_uc010ejh.2_Missense_Mutation_p.G323V|ZNF235_uc002oyx.1_Intron	p.G330V	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN			6	1194	+		Prostate(69;0.0435)	330			C2H2-type 3.		B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.989G>T	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.409274	0.42715	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.23754	1.89;1.89	4.79	3.73	0.42828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56630	0.1998	M	0.91612	3.225	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.66497	0.944;0.944;0.944;0.944	T	0.68682	-0.5344	9	0.87932	D	0	.	14.0189	0.64541	0.0:0.153:0.847:0.0	.	251;309;282;330	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	V	330;287;279;309;31	ENSP00000321049:G330V;ENSP00000375823:G279V	ENSP00000321049:G330V	G	+	2	0	ZNF227	49431412	0.998000	0.40836	0.964000	0.40570	0.461000	0.32589	0.764000	0.26532	1.101000	0.41535	0.563000	0.77884	GGC		0.388	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		33	66	1	0	1.08052e-11	0.004289	1.4713e-11	33	66				
PGLYRP1	8993	broad.mit.edu	37	19	46526132	46526132	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:46526132G>T	ENST00000008938.4	-	1	191	c.148C>A	c.(148-150)Ctg>Atg	p.L50M		NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	50					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.L50M(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GGCAGGCTCAGGTGCTGGGCG	0.662																																							uc002pdx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(148-150)CTG>ATG		peptidoglycan recognition protein 1 precursor							39.0	33.0	35.0					19																	46526132		2203	4300	6503	SO:0001583	missense	8993				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:46526132G>T	AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.148C>A	19.37:g.46526132G>T	ENSP00000008938:p.Leu50Met						p.L50M	NM_005091	NP_005082	O75594	PGRP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	1	192	-		all_neural(266;0.113)|Ovarian(192;0.127)	50					Q4VB36	Missense_Mutation	SNP	ENST00000008938.4	37	c.148C>A	CCDS12680.1	.	.	.	.	.	.	.	.	.	.	G	5.632	0.301230	0.10678	.	.	ENSG00000008438	ENST00000008938	T	0.49432	0.78	4.65	2.46	0.29980	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (3);	0.144593	0.30093	N	0.010436	T	0.40956	0.1138	L	0.50993	1.605	0.09310	N	1	P	0.44946	0.846	P	0.46339	0.513	T	0.16958	-1.0385	10	0.20046	T	0.44	-15.827	6.1613	0.20366	0.1021:0.1894:0.7084:0.0	.	50	O75594	PGRP1_HUMAN	M	50	ENSP00000008938:L50M	ENSP00000008938:L50M	L	-	1	2	PGLYRP1	51217972	0.055000	0.20627	0.004000	0.12327	0.006000	0.05464	1.181000	0.32017	0.549000	0.28973	0.650000	0.86243	CTG		0.662	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091		4	10	1	0	0.00024832	0.009096	0.000274978	4	10				
GRWD1	83743	broad.mit.edu	37	19	48956135	48956135	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:48956135C>T	ENST00000253237.5	+	7	1427	c.1194C>T	c.(1192-1194)ccC>ccT	p.P398P	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	398						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P398P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCCGACCCCGGACTGGCCG	0.692																																							uc002pjd.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(1192-1194)CCC>CCT		glutamate-rich WD repeat containing 1							33.0	32.0	32.0					19																	48956135		2201	4298	6499	SO:0001819	synonymous_variant	83743					nucleolus		g.chr19:48956135C>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1194C>T	19.37:g.48956135C>T						KCNJ14_uc002pje.1_5'Flank	p.P398P	NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	7	1427	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	398					Q8TF59	Silent	SNP	ENST00000253237.5	37	c.1194C>T	CCDS12720.1																																																																																				0.692	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		18	19	0	0	0	0.008871	0	18	19				
PPP1R15A	23645	broad.mit.edu	37	19	49376608	49376608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:49376608G>T	ENST00000200453.5	+	2	387	c.118G>T	c.(118-120)Gga>Tga	p.G40*		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	40	Required for localization in the endoplasmic reticulum.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.G40*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GAGGGGCCTGGGACCTCTAGA	0.637																																							uc002pky.3		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(118-120)GGA>TGA		protein phosphatase 1, regulatory subunit 15A							32.0	36.0	35.0					19																	49376608		2202	4299	6501	SO:0001587	stop_gained	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49376608G>T	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.118G>T	19.37:g.49376608G>T	ENSP00000200453:p.Gly40*						p.G40*	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	387	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	40			Required for localization in the endoplasmic reticulum.		B4DKQ3|Q6IA96|Q9NVU6	Nonsense_Mutation	SNP	ENST00000200453.5	37	c.118G>T	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	36	5.827445	0.96996	.	.	ENSG00000087074	ENST00000200453	.	.	.	4.06	3.01	0.34805	.	0.320710	0.24258	N	0.040119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-10.6562	8.2064	0.31458	0.1094:0.0:0.8906:0.0	.	.	.	.	X	40	.	ENSP00000200453:G40X	G	+	1	0	PPP1R15A	54068420	0.657000	0.27393	0.173000	0.22940	0.239000	0.25481	2.288000	0.43514	1.300000	0.44818	0.561000	0.74099	GGA		0.637	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		16	33	1	0	1.78486e-19	0.007413	2.82948e-19	16	33				
KLK1	3816	broad.mit.edu	37	19	51323520	51323520	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:51323520G>C	ENST00000301420.2	-	3	421	c.386C>G	c.(385-387)cCt>cGt	p.P129R	CTD-2568A17.5_ENST00000326989.5_lincRNA|KLK1_ENST00000448701.2_Missense_Mutation_p.P27R	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	129	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.P129R(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GGTATCAGCAGGCTCTGTCAG	0.602																																							uc002ptk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(385-387)CCT>CGT		kallikrein 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						143.0	123.0	130.0					19																	51323520		2203	4300	6503	SO:0001583	missense	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51323520G>C	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.386C>G	19.37:g.51323520G>C	ENSP00000301420:p.Pro129Arg					KLK1_uc010ycg.1_RNA	p.P129R	NM_002257	NP_002248	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	3	425	-		all_neural(266;0.0199)	129			Peptidase S1.		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	ENST00000301420.2	37	c.386C>G	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.277029	0.59758	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	T;T	0.63913	2.98;-0.07	3.17	3.17	0.36434	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.68007	0.2954	M	0.69823	2.125	0.24253	N	0.995316	D	0.61080	0.989	P	0.49752	0.621	T	0.61584	-0.7033	9	0.66056	D	0.02	.	12.5844	0.56408	0.0:0.0:1.0:0.0	.	129	P06870	KLK1_HUMAN	R	129;27	ENSP00000301420:P129R;ENSP00000400994:P27R	ENSP00000301420:P129R	P	-	2	0	KLK1	56015332	0.999000	0.42202	0.005000	0.12908	0.007000	0.05969	6.875000	0.75551	2.063000	0.61619	0.313000	0.20887	CCT		0.602	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		33	83	0	0	0	0.013114	0	33	83				
SIGLEC6	946	broad.mit.edu	37	19	52023450	52023450	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:52023450G>T	ENST00000425629.3	-	8	1402	c.1248C>A	c.(1246-1248)ccC>ccA	p.P416P	SIGLEC6_ENST00000346477.3_Silent_p.P400P|SIGLEC6_ENST00000436458.1_Silent_p.P364P|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000474054.1_5'UTR	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	416					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.P389P(1)|p.P416P(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTTCTGAGATGGGGCCAGCCT	0.507																																							uc002pwy.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1246-1248)CCC>CCA		sialic acid binding Ig-like lectin 6 isoform 1							207.0	199.0	202.0					19																	52023450		1990	4174	6164	SO:0001819	synonymous_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52023450G>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1248C>A	19.37:g.52023450G>T						SIGLEC6_uc002pwz.2_Silent_p.P400P|SIGLEC6_uc002pxa.2_3'UTR|SIGLEC6_uc010ydb.1_Silent_p.P353P|SIGLEC6_uc010ydc.1_3'UTR|SIGLEC6_uc010eoz.1_3'UTR	p.P416P	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	8	1410	-		all_neural(266;0.0199)	416			Cytoplasmic (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	c.1248C>A	CCDS12834.3																																																																																				0.507	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		93	183	1	0	6.84326e-50	0.00361	1.30786e-49	93	183				
SIGLEC6	946	broad.mit.edu	37	19	52031048	52031048	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:52031048C>A	ENST00000425629.3	-	7	1295	c.1141G>T	c.(1141-1143)Gtg>Ttg	p.V381L	SIGLEC6_ENST00000346477.3_Missense_Mutation_p.V365L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V329L|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000359982.4_Intron|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000474054.1_5'UTR	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	381					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.V381L(1)|p.V354L(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTGTTTTGCACTGGCTGGGCT	0.488																																							uc002pwy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1141-1143)GTG>TTG		sialic acid binding Ig-like lectin 6 isoform 1							179.0	177.0	177.0					19																	52031048		1943	4154	6097	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52031048C>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1141G>T	19.37:g.52031048C>A	ENSP00000401502:p.Val381Leu					SIGLEC6_uc002pwz.2_Missense_Mutation_p.V365L|SIGLEC6_uc002pxa.2_Intron|SIGLEC6_uc010ydb.1_Missense_Mutation_p.V318L|SIGLEC6_uc010ydc.1_Intron|SIGLEC6_uc010eoz.1_Intron	p.V381L	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	7	1303	-		all_neural(266;0.0199)	381			Cytoplasmic (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.1141G>T	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	.	12.06	1.825274	0.32237	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458	T;T;T	0.55930	0.49;1.15;0.72	3.02	0.833	0.18875	.	.	.	.	.	T	0.46014	0.1371	L	0.55481	1.735	0.09310	N	1	B;P;P	0.48089	0.073;0.905;0.664	B;P;B	0.47645	0.018;0.553;0.115	T	0.32508	-0.9904	9	0.12766	T	0.61	.	5.3526	0.16043	0.0:0.7244:0.0:0.2756	.	329;365;381	C9JBE5;O43699-3;O43699	.;.;SIGL6_HUMAN	L	354;365;381;329	ENSP00000344064:V354L;ENSP00000401502:V381L;ENSP00000410679:V329L	ENSP00000344064:V354L	V	-	1	0	SIGLEC6	56722860	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-1.842000	0.01681	0.320000	0.23234	0.411000	0.27672	GTG		0.488	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		32	160	1	0	2.68265e-12	0.002836	3.6997e-12	32	160				
VN1R2	317701	broad.mit.edu	37	19	53762292	53762292	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:53762292C>G	ENST00000341702.3	+	1	748	c.664C>G	c.(664-666)Ctg>Gtg	p.L222V		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	222					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.L222V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTTCCACATGCTGGTAAATGC	0.448																																							uc002qbi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(664-666)CTG>GTG		vomeronasal 1 receptor 2							59.0	59.0	59.0					19																	53762292		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762292C>G	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.664C>G	19.37:g.53762292C>G	ENSP00000351244:p.Leu222Val						p.L222V	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	748	+			222			Helical; Name=4; (Potential).		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.664C>G	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550854	0.27739	.	.	ENSG00000196131	ENST00000341702	T	0.42131	0.98	2.94	-0.588	0.11687	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.47820	0.1466	M	0.80183	2.485	0.09310	N	1	P	0.46395	0.877	P	0.51742	0.678	T	0.41610	-0.9499	9	0.48119	T	0.1	.	0.5504	0.00661	0.2025:0.3617:0.1978:0.2379	.	222	Q8NFZ6	VN1R2_HUMAN	V	222	ENSP00000351244:L222V	ENSP00000351244:L222V	L	+	1	2	VN1R2	58454104	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-2.763000	0.00784	-0.010000	0.14271	0.596000	0.82720	CTG		0.448	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		30	50	0	0	0	0.012213	0	30	50				
LILRB2	10288	broad.mit.edu	37	19	54783311	54783311	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:54783311C>T	ENST00000391749.4	-	5	818	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	LILRB2_ENST00000434421.1_Missense_Mutation_p.V67M|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_Missense_Mutation_p.V183M|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391746.1_Missense_Mutation_p.V183M|LILRB2_ENST00000314446.5_Missense_Mutation_p.V183M	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	183	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.V183M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.572																																							uc002qfb.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(547-549)GTG>ATG		leukocyte immunoglobulin-like receptor,							106.0	103.0	104.0					19																	54783311		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783311C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.547G>A	19.37:g.54783311C>T	ENSP00000375629:p.Val183Met					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.V183M|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.V183M|LILRB2_uc010yet.1_Missense_Mutation_p.V67M|LILRB2_uc010yeu.1_RNA	p.V183M	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	813	-	Ovarian(34;0.19)		183			Extracellular (Potential).|Ig-like C2-type 2.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.547G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244216	0.39697	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00792	5.69;5.69;5.69;5.69;5.69	2.58	-5.16	0.02857	Immunoglobulin-like fold (1);	0.492239	0.17109	N	0.186662	T	0.01156	0.0038	L	0.45051	1.395	0.09310	N	1	D;P;D	0.67145	0.996;0.91;0.995	P;P;P	0.61800	0.894;0.553;0.84	T	0.42999	-0.9418	10	0.39692	T	0.17	.	0.612	0.00763	0.1793:0.2356:0.1778:0.4072	.	183;200;183	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	M	183;183;183;183;67	ENSP00000375628:V183M;ENSP00000319960:V183M;ENSP00000375629:V183M;ENSP00000375626:V183M;ENSP00000410117:V67M	ENSP00000319960:V183M	V	-	1	0	LILRB2	59475123	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.765000	0.04730	-0.839000	0.04212	-0.419000	0.06015	GTG		0.572	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			8	85	0	0	0	0.006214	0	8	85				
LAIR2	3904	broad.mit.edu	37	19	55014160	55014160	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:55014160T>C	ENST00000301202.2	+	1	148	c.26T>C	c.(25-27)cTg>cCg	p.L9P	LAIR2_ENST00000351841.2_Missense_Mutation_p.L9P	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	9						extracellular region (GO:0005576)		p.L9P(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACTGCTCTCCTGGGCCTAGGT	0.622																																							uc002qgc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(25-27)CTG>CCG		leukocyte-associated immunoglobulin-like							85.0	75.0	78.0					19																	55014160		2203	4300	6503	SO:0001583	missense	3904					extracellular region	receptor activity	g.chr19:55014160T>C	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.26T>C	19.37:g.55014160T>C	ENSP00000301202:p.Leu9Pro					LAIR2_uc002qga.1_Intron|LAIR2_uc002qgb.1_Intron|LAIR2_uc002qgd.2_Missense_Mutation_p.L9P|LAIR2_uc010erl.2_Missense_Mutation_p.L9P	p.L9P	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	1	148	+	Ovarian(34;0.19)		9					Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	c.26T>C	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.984754	0.53934	.	.	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.00630	6.1;6.2	2.01	2.01	0.26516	.	0.000000	0.33670	N	0.004672	T	0.03136	0.0092	M	0.89163	3.01	0.38040	D	0.935422	D;D	0.89917	0.997;1.0	D;D	0.87578	0.994;0.998	T	0.24621	-1.0155	10	0.87932	D	0	.	6.0121	0.19582	0.0:0.0:0.0:1.0	.	9;9	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	P	9	ENSP00000301202:L9P;ENSP00000301203:L9P	ENSP00000301202:L9P	L	+	2	0	LAIR2	59705972	0.039000	0.19947	0.634000	0.29324	0.491000	0.33493	2.442000	0.44873	1.181000	0.42912	0.383000	0.25322	CTG		0.622	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			27	62	0	0	0	0.012213	0	27	62				
KIR3DL1	3811	broad.mit.edu	37	19	55340893	55340893	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:55340893C>A	ENST00000391728.4	+	7	1111	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.L360I|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.L343I|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.L265I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.L343I	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	360					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.L360I(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		cttctttctccttcatctcTG	0.532																																							uc002qhk.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1078-1080)CTT>ATT		killer cell immunoglobulin-like receptor, three							215.0	165.0	182.0					19																	55340893		2172	4152	6324	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55340893C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1078C>A	19.37:g.55340893C>A	ENSP00000375608:p.Leu360Ile					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.L285I|KIR3DL1_uc010esf.2_Missense_Mutation_p.L265I|KIR3DL1_uc010yfo.1_Missense_Mutation_p.L302I|KIR3DL1_uc002qhl.3_Intron	p.L360I	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	1141	+			360			Helical; (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1078C>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	2.779	-0.254034	0.05829	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00514	6.98;6.88;6.98;6.88;6.97	0.743	-1.49	0.08718	.	18.857400	0.00622	N	0.000445	T	0.00724	0.0024	M	0.66560	2.04	0.09310	N	1	B;B;B	0.23735	0.02;0.09;0.044	B;B;B	0.32393	0.074;0.145;0.074	T	0.47886	-0.9082	10	0.87932	D	0	.	4.7824	0.13208	0.4689:0.5311:0.0:0.0	.	343;265;360	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	I	360;343;338;360;343;265	ENSP00000443350:L360I;ENSP00000442355:L343I;ENSP00000375608:L360I;ENSP00000326868:L343I;ENSP00000350901:L265I	ENSP00000326868:L343I	L	+	1	0	KIR3DL1	60032705	0.003000	0.15002	0.001000	0.08648	0.009000	0.06853	-0.410000	0.07151	-1.156000	0.02818	0.184000	0.17185	CTT		0.532	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		9	24	1	0	1.49906e-05	0.00245	1.7181e-05	9	24				
PPP6R1	22870	broad.mit.edu	37	19	55753604	55753604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:55753604C>A	ENST00000412770.2	-	7	1341	c.775G>T	c.(775-777)Gag>Tag	p.E259*	PPP6R1_ENST00000587283.1_Nonsense_Mutation_p.E259*	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	259	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)	p.E259*(1)		breast(1)	1						TGGCTCTGCTCCCCCTCGAAC	0.652																																							uc002qjw.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(775-777)GAG>TAG		SAPS domain family, member 1							165.0	167.0	166.0					19																	55753604		2099	4230	6329	SO:0001587	stop_gained	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55753604C>A	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.775G>T	19.37:g.55753604C>A	ENSP00000414202:p.Glu259*					SAPS1_uc002qjv.2_Nonsense_Mutation_p.E321*	p.E259*	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	7	1017	-		Renal(1328;0.245)	259			Interaction with PPP6C.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Nonsense_Mutation	SNP	ENST00000412770.2	37	c.775G>T	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	C	38	7.148120	0.98096	.	.	ENSG00000105063	ENST00000412770	.	.	.	5.17	4.12	0.48240	.	0.120124	0.32970	N	0.005431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-16.6204	14.9074	0.70730	0.0:0.8554:0.1446:0.0	.	.	.	.	X	259	.	ENSP00000414202:E259X	E	-	1	0	PPP6R1	60445416	0.962000	0.33011	0.924000	0.36721	0.622000	0.37654	3.113000	0.50376	1.291000	0.44653	0.555000	0.69702	GAG		0.652	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		49	90	1	0	9.55421e-19	0.00361	1.48951e-18	49	90				
NLRP13	126204	broad.mit.edu	37	19	56410252	56410252	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:56410252G>T	ENST00000342929.3	-	10	2840	c.2841C>A	c.(2839-2841)gcC>gcA	p.A947A	NLRP13_ENST00000588751.1_Silent_p.A947A	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	947							ATP binding (GO:0005524)	p.A947A(1)		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)		TATGGCTGAGGGCATTAGCCA	0.438																																							uc010ygg.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2839-2841)GCC>GCA		NACHT, leucine rich repeat and PYD containing							143.0	126.0	132.0					19																	56410252		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56410252G>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.2841C>A	19.37:g.56410252G>T							p.A947A	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	10	2866	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	947					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2841C>A	CCDS33119.1																																																																																				0.438	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		42	68	1	0	5.48756e-27	0.011902	9.4341e-27	42	68				
NLRP13	126204	broad.mit.edu	37	19	56424608	56424608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:56424608C>T	ENST00000342929.3	-	5	574	c.575G>A	c.(574-576)tGg>tAg	p.W192*	NLRP13_ENST00000588751.1_Nonsense_Mutation_p.W192*	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	192							ATP binding (GO:0005524)	p.W192*(1)		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)		GATGTTGTCCCATGTCTCCAG	0.443																																							uc010ygg.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(574-576)TGG>TAG		NACHT, leucine rich repeat and PYD containing							170.0	183.0	179.0					19																	56424608		2202	4300	6502	SO:0001587	stop_gained	126204						ATP binding	g.chr19:56424608C>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.575G>A	19.37:g.56424608C>T	ENSP00000343891:p.Trp192*						p.W192*	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	600	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	192					Q7RTR5	Nonsense_Mutation	SNP	ENST00000342929.3	37	c.575G>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618639	0.46736	.	.	ENSG00000173572	ENST00000342929	.	.	.	2.12	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7927	0.29129	0.0:1.0:0.0:0.0	.	.	.	.	X	192	.	ENSP00000343891:W192X	W	-	2	0	NLRP13	61116420	0.008000	0.16893	0.272000	0.24630	0.006000	0.05464	1.007000	0.29860	1.548000	0.49413	0.585000	0.79938	TGG		0.443	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		58	151	0	0	0	0.00361	0	58	151				
NLRP13	126204	broad.mit.edu	37	19	56424611	56424611	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:56424611G>T	ENST00000342929.3	-	5	571	c.572C>A	c.(571-573)aCa>aAa	p.T191K	NLRP13_ENST00000588751.1_Missense_Mutation_p.T191K	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	191							ATP binding (GO:0005524)	p.T191K(1)		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)		GTTGTCCCATGTCTCCAGTAG	0.443																																							uc010ygg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(571-573)ACA>AAA		NACHT, leucine rich repeat and PYD containing							168.0	181.0	177.0					19																	56424611		2202	4298	6500	SO:0001583	missense	126204						ATP binding	g.chr19:56424611G>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.572C>A	19.37:g.56424611G>T	ENSP00000343891:p.Thr191Lys						p.T191K	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	597	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	191					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.572C>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	6.491	0.458856	0.12342	.	.	ENSG00000173572	ENST00000342929	T	0.72167	-0.63	2.12	-0.107	0.13592	.	.	.	.	.	T	0.38374	0.1038	N	0.14661	0.345	0.09310	N	1	P	0.36125	0.538	B	0.29524	0.103	T	0.30001	-0.9993	9	0.06757	T	0.87	.	1.7633	0.02996	0.5404:0.0:0.1787:0.2809	.	191	Q86W25	NAL13_HUMAN	K	191	ENSP00000343891:T191K	ENSP00000343891:T191K	T	-	2	0	NLRP13	61116423	0.000000	0.05858	0.043000	0.18650	0.000000	0.00434	0.108000	0.15396	-0.069000	0.12931	-1.377000	0.01181	ACA		0.443	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		57	147	1	0	5.5144e-22	0.00361	9.12604e-22	57	147				
NLRP8	126205	broad.mit.edu	37	19	56459432	56459432	+	Missense_Mutation	SNP	G	G	A	rs145268550		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:56459432G>A	ENST00000291971.3	+	1	235	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R55Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	55	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R55Q(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGCTACAACGGTTCAAGCAG	0.547																																							uc002qmh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(163-165)CGG>CAG		NLR family, pyrin domain containing 8		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	94.0	104.0		164	-3.0	0.0	19	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NLRP8	NM_176811.2	43	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	55/1049	56459432	3,13003	2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56459432G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.164G>A	19.37:g.56459432G>A	ENSP00000291971:p.Arg55Gln					NLRP8_uc010etg.2_Missense_Mutation_p.R55Q	p.R55Q	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	1	235	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	55			DAPIN.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.164G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	6.144	0.394816	0.11638	2.27E-4	2.33E-4	ENSG00000179709	ENST00000291971	T	0.58506	0.33	2.23	-2.98	0.05513	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.40909	0.1136	L	0.46157	1.445	0.09310	N	1	B;B	0.19445	0.036;0.023	B;B	0.20184	0.006;0.028	T	0.35475	-0.9787	9	0.42905	T	0.14	.	0.2809	0.00244	0.2855:0.2042:0.3031:0.2072	.	55;55	Q86W28-2;Q86W28	.;NALP8_HUMAN	Q	55	ENSP00000291971:R55Q	ENSP00000291971:R55Q	R	+	2	0	NLRP8	61151244	0.056000	0.20664	0.001000	0.08648	0.011000	0.07611	0.023000	0.13533	-0.629000	0.05575	-0.426000	0.05927	CGG		0.547	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		6	19	0	0	0	0.001168	0	6	19				
NLRP5	126206	broad.mit.edu	37	19	56539728	56539728	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:56539728T>G	ENST00000390649.3	+	7	2129	c.2129T>G	c.(2128-2130)gTg>gGg	p.V710G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	710					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.V710G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCCAAGAAGTGTGGCTTCCG	0.498																																							uc002qmj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2128-2130)GTG>GGG		NACHT, LRR and PYD containing protein 5							131.0	135.0	134.0					19																	56539728		1986	4167	6153	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539728T>G	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2129T>G	19.37:g.56539728T>G	ENSP00000375063:p.Val710Gly					NLRP5_uc002qmi.2_Missense_Mutation_p.V691G	p.V710G	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2129	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	710			LRR 1.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2129T>G	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397860	0.42512	.	.	ENSG00000171487	ENST00000390649	D	0.88277	-2.36	3.26	3.26	0.37387	.	0.000000	0.33610	N	0.004735	D	0.93115	0.7808	M	0.84326	2.69	0.21147	N	0.999777	D	0.67145	0.996	D	0.70487	0.969	D	0.85239	0.1037	10	0.87932	D	0	.	8.2502	0.31712	0.0:0.0:0.0:1.0	.	710	P59047	NALP5_HUMAN	G	710	ENSP00000375063:V710G	ENSP00000375063:V710G	V	+	2	0	NLRP5	61231540	0.005000	0.15991	0.051000	0.19133	0.022000	0.10575	1.611000	0.36879	1.719000	0.51432	0.459000	0.35465	GTG		0.498	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		81	134	0	0	0	0.00361	0	81	134				
NLRP5	126206	broad.mit.edu	37	19	56544988	56544988	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:56544988A>T	ENST00000390649.3	+	9	2528	c.2528A>T	c.(2527-2529)aAc>aTc	p.N843I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	843					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.N843I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGATCCCTCAACTTGGGAGGC	0.502																																							uc002qmj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2527-2529)AAC>ATC		NACHT, LRR and PYD containing protein 5							241.0	236.0	237.0					19																	56544988		1953	4151	6104	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56544988A>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2528A>T	19.37:g.56544988A>T	ENSP00000375063:p.Asn843Ile					NLRP5_uc002qmi.2_Missense_Mutation_p.N824I	p.N843I	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	9	2528	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	843			LRR 5.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2528A>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	A	8.575	0.880946	0.17467	.	.	ENSG00000171487	ENST00000390649	T	0.56444	0.46	3.2	1.07	0.20283	.	0.734758	0.11172	N	0.591945	T	0.49864	0.1582	M	0.73372	2.23	0.09310	N	1	P	0.42483	0.781	B	0.41466	0.358	T	0.45220	-0.9276	10	0.87932	D	0	.	5.117	0.14840	0.7403:0.0:0.2597:0.0	.	843	P59047	NALP5_HUMAN	I	843	ENSP00000375063:N843I	ENSP00000375063:N843I	N	+	2	0	NLRP5	61236800	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.091000	0.15046	0.153000	0.19213	-0.296000	0.09543	AAC		0.502	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		93	130	0	0	0	0.00361	0	93	130				
PEG3	5178	broad.mit.edu	37	19	57330040	57330040	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:57330040G>A	ENST00000326441.9	-	8	1063	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F	ZIM2_ENST00000593711.1_Missense_Mutation_p.L109F|PEG3_ENST00000593695.1_Missense_Mutation_p.L108F|ZIM2_ENST00000601070.1_Missense_Mutation_p.L109F|PEG3_ENST00000423103.2_Missense_Mutation_p.L234F|ZIM2_ENST00000391708.3_Missense_Mutation_p.L109F|ZIM2_ENST00000221722.5_Missense_Mutation_p.L109F|ZIM2_ENST00000599935.1_Missense_Mutation_p.L109F|PEG3_ENST00000598410.1_Missense_Mutation_p.L109F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	234					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L234F(2)|p.L109F(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTCAGCGAGGTCCACCACA	0.483																																							uc002qnu.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(700-702)CTC>TTC		paternally expressed 3 isoform 1							297.0	245.0	263.0					19																	57330040		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57330040G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.700C>T	19.37:g.57330040G>A	ENSP00000326581:p.Leu234Phe					ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.L109F|ZIM2_uc002qnq.2_Missense_Mutation_p.L109F|ZIM2_uc010etp.2_Missense_Mutation_p.L109F|ZIM2_uc010ygs.1_Missense_Mutation_p.L109F|PEG3_uc002qnt.2_Missense_Mutation_p.L235F|PEG3_uc002qnv.2_Missense_Mutation_p.L234F|PEG3_uc002qnw.2_Missense_Mutation_p.L109F|PEG3_uc002qnx.2_Missense_Mutation_p.L108F|PEG3_uc010etr.2_Missense_Mutation_p.L234F	p.L234F	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	5	1051	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	234					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.700C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286825	0.40494	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.08102	3.13;3.13;3.72;3.72	3.91	-0.977	0.10282	.	0.000000	0.37348	N	0.002130	T	0.08802	0.0218	L	0.27053	0.805	.	.	.	B;B;D;B	0.71674	0.197;0.121;0.998;0.266	B;B;P;B	0.62649	0.035;0.019;0.905;0.053	T	0.27606	-1.0069	9	0.30854	T	0.27	-6.5697	0.9639	0.01401	0.2148:0.181:0.4186:0.1856	.	109;234;168;109	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	F	109;109;234;234;234	ENSP00000375589:L109F;ENSP00000221722:L109F;ENSP00000326581:L234F;ENSP00000403051:L234F	ENSP00000221722:L109F	L	-	1	0	ZIM2	62021852	0.001000	0.12720	0.000000	0.03702	0.501000	0.33797	0.322000	0.19576	-0.041000	0.13558	0.557000	0.71058	CTC		0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			46	86	0	0	0	0.00361	0	46	86				
ZSCAN22	342945	broad.mit.edu	37	19	58849788	58849788	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:58849788G>T	ENST00000329665.4	+	3	719	c.572G>T	c.(571-573)gGg>gTg	p.G191V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	191					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)	p.G191V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GGACTATCAGGGGAGATCTGG	0.532																																							uc002qsc.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(571-573)GGG>GTG		zinc finger and SCAN domain containing 22							114.0	111.0	112.0					19																	58849788		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58849788G>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.572G>T	19.37:g.58849788G>T	ENSP00000332433:p.Gly191Val					ZSCAN22_uc010yhz.1_Missense_Mutation_p.G186W	p.G191V	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	719	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	191					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.572G>T	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	3.172	-0.169738	0.06461	.	.	ENSG00000182318	ENST00000329665	T	0.09255	3.0	4.02	-2.87	0.05700	.	.	.	.	.	T	0.05044	0.0135	N	0.14661	0.345	0.19945	N	0.999943	B	0.16603	0.018	B	0.09377	0.004	T	0.40776	-0.9545	9	0.30078	T	0.28	.	5.2934	0.15739	0.2601:0.2691:0.4708:0.0	.	191	P10073	ZSC22_HUMAN	V	191	ENSP00000332433:G191V	ENSP00000332433:G191V	G	+	2	0	ZSCAN22	63541600	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.143000	0.03200	-0.621000	0.05633	-0.802000	0.03209	GGG		0.532	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		22	56	1	0	9.95505e-16	0.002299	1.46409e-15	22	56				
RRM2	6241	broad.mit.edu	37	2	10269234	10269234	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:10269234A>G	ENST00000304567.5	+	9	1039	c.970A>G	c.(970-972)Att>Gtt	p.I324V	RRM2_ENST00000360566.2_Missense_Mutation_p.I384V	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	324					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.I324V(1)|p.I384V(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	GAAGCAATACATTGAGTTTGT	0.413																																							uc002rah.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(970-972)ATT>GTT		ribonucleotide reductase M2 polypeptide isoform							164.0	164.0	164.0					2																	10269234		2203	4297	6500	SO:0001583	missense	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10269234A>G		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.970A>G	2.37:g.10269234A>G	ENSP00000302955:p.Ile324Val						p.I324V	NM_001034	NP_001025	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	9	1161	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		324					B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	c.970A>G	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255603	0.59321	.	.	ENSG00000171848	ENST00000360566;ENST00000304567;ENST00000474701	D;D;D	0.97041	-4.22;-4.22;-4.22	6.08	4.93	0.64822	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.000000	0.85682	D	0.000000	D	0.96645	0.8905	M	0.89353	3.025	0.80722	D	1	B	0.31485	0.325	B	0.30401	0.115	D	0.95080	0.8212	10	0.49607	T	0.09	-14.8817	11.9538	0.52970	0.9329:0.0:0.0671:0.0	.	324	P31350	RIR2_HUMAN	V	384;324;274	ENSP00000353770:I384V;ENSP00000302955:I324V;ENSP00000419177:I274V	ENSP00000302955:I324V	I	+	1	0	RRM2	10186685	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.110000	0.94302	1.134000	0.42165	0.533000	0.62120	ATT		0.413	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			72	124	0	0	0	0.00361	0	72	124				
WDR35	57539	broad.mit.edu	37	2	20180465	20180465	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:20180465C>A	ENST00000345530.3	-	4	409	c.294G>T	c.(292-294)tgG>tgT	p.W98C	WDR35_ENST00000281405.4_Missense_Mutation_p.W98C	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	98					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.W98C(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATATAACATCCACACAATGA	0.333																																							uc002rdi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(292-294)TGG>TGT		WD repeat domain 35 isoform 1							99.0	95.0	97.0					2																	20180465		2203	4298	6501	SO:0001583	missense	57539							g.chr2:20180465C>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.294G>T	2.37:g.20180465C>A	ENSP00000314444:p.Trp98Cys					WDR35_uc002rdj.2_Missense_Mutation_p.W98C|WDR35_uc010ext.2_RNA	p.W98C	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			4	402	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		98			WD 2.		B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.294G>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990908	0.74703	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.36699	1.24;1.24	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70815	0.3267	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77770	-0.2463	10	0.87932	D	0	-10.2094	18.9583	0.92668	0.0:1.0:0.0:0.0	.	98;98	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	C	98	ENSP00000314444:W98C;ENSP00000281405:W98C	ENSP00000281405:W98C	W	-	3	0	WDR35	20043946	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.598000	0.82745	2.724000	0.93272	0.491000	0.48974	TGG		0.333	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		24	50	1	0	4.4004e-07	0.00333	5.27628e-07	24	50				
APOB	338	broad.mit.edu	37	2	21233989	21233989	+	Silent	SNP	G	G	C	rs543623037		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:21233989G>C	ENST00000233242.1	-	26	5878	c.5751C>G	c.(5749-5751)ctC>ctG	p.L1917L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1917					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)	p.L1917L(1)		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)					CCCAGAGAGCGAGTTTCCCAT	0.443																																							uc002red.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(5749-5751)CTC>CTG		apolipoprotein B precursor	Atorvastatin(DB01076)						186.0	172.0	177.0					2																	21233989		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:21233989G>C	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.5751C>G	2.37:g.21233989G>C							p.L1917L	NM_000384	NP_000375	P04114	APOB_HUMAN			26	5879	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1917					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.5751C>G	CCDS1703.1																																																																																				0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			88	179	0	0	0	0.00361	0	88	179				
OTOF	9381	broad.mit.edu	37	2	26702462	26702462	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:26702462C>G	ENST00000272371.2	-	17	2098	c.1972G>C	c.(1972-1974)Gag>Cag	p.E658Q	OTOF_ENST00000402415.3_5'Flank|OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000403946.3_Missense_Mutation_p.E658Q|OTOF_ENST00000339598.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	658					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.E658Q(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCCGGCTCCTTCCGGGGC	0.622																																					GBM(102;732 1451 20652 24062 31372)	GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(1972-1974)GAG>CAG		otoferlin isoform a							32.0	35.0	34.0					2																	26702462		2202	4298	6500	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26702462C>G	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1972G>C	2.37:g.26702462C>G	ENSP00000272371:p.Glu658Gln					OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank	p.E658Q	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			17	2099	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		658			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1972G>C	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131024	0.37630	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.81247	-1.47;-1.47	4.63	4.63	0.57726	.	0.485350	0.21728	N	0.070016	T	0.75903	0.3913	M	0.68317	2.08	0.49687	D	0.999818	P	0.38922	0.651	B	0.30251	0.113	T	0.75662	-0.3240	10	0.21014	T	0.42	-33.3834	17.0798	0.86595	0.0:1.0:0.0:0.0	.	658	Q9HC10	OTOF_HUMAN	Q	658	ENSP00000272371:E658Q;ENSP00000385255:E658Q	ENSP00000272371:E658Q	E	-	1	0	OTOF	26555966	1.000000	0.71417	0.995000	0.50966	0.307000	0.27823	3.441000	0.52893	2.093000	0.63338	0.561000	0.74099	GAG		0.622	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			24	36	0	0	0	0.005443	0	24	36				
CAD	790	broad.mit.edu	37	2	27456644	27456644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:27456644G>T	ENST00000403525.1	+	20	3322	c.3178G>T	c.(3178-3180)Gtg>Ttg	p.V1060L	CAD_ENST00000264705.4_Missense_Mutation_p.V1123L			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.V1123L(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGCATCCCGTGGTCATCTC	0.587																																							uc002rji.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(3367-3369)GTG>TTG		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						54.0	56.0	56.0					2																	27456644		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27456644G>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3178G>T	2.37:g.27456644G>T	ENSP00000384510:p.Val1060Leu					CAD_uc010eyw.2_Missense_Mutation_p.V1060L	p.V1123L	NM_004341	NP_004332	P27708	PYR1_HUMAN			21	3529	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1123			CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.3367G>T		.	.	.	.	.	.	.	.	.	.	G	32	5.186036	0.94885	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97430	-4.38;-4.38	6.04	6.04	0.98038	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.98504	0.9501	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.99164	1.0862	10	0.87932	D	0	-1.9337	19.143	0.93452	0.0:0.0:1.0:0.0	.	1060;1123	F8VPD4;P27708	.;PYR1_HUMAN	L	1123;1060	ENSP00000264705:V1123L;ENSP00000384510:V1060L	ENSP00000264705:V1123L	V	+	1	0	CAD	27310148	1.000000	0.71417	0.986000	0.45419	0.789000	0.44602	8.999000	0.93557	2.873000	0.98535	0.561000	0.74099	GTG		0.587	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			14	43	1	0	3.52763e-06	0.00499	4.08663e-06	14	43				
BIRC6	57448	broad.mit.edu	37	2	32724814	32724814	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:32724814G>T	ENST00000421745.2	+	46	8803	c.8669G>T	c.(8668-8670)cGa>cTa	p.R2890L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2890					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.R2862L(1)|p.R2890L(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGGTGCTCGAGCATGCTTT	0.438																																					Pancreas(94;175 1509 16028 18060 45422)	Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(8668-8670)CGA>CTA		baculoviral IAP repeat-containing 6							215.0	210.0	212.0					2																	32724814		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32724814G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8669G>T	2.37:g.32724814G>T	ENSP00000393596:p.Arg2890Leu						p.R2890L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			46	8803	+	Acute lymphoblastic leukemia(172;0.155)		2890					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.8669G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373240	0.82573	.	.	ENSG00000115760	ENST00000421745	T	0.75589	-0.95	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	T	0.79488	0.4454	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	T	0.80734	-0.1250	10	0.52906	T	0.07	.	19.6002	0.95559	0.0:0.0:1.0:0.0	.	2890	Q9NR09	BIRC6_HUMAN	L	2890	ENSP00000393596:R2890L	ENSP00000393596:R2890L	R	+	2	0	BIRC6	32578318	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.691000	0.91804	0.655000	0.94253	CGA		0.438	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		83	153	1	0	1.55023e-36	0.00361	2.84021e-36	83	153				
LTBP1	4052	broad.mit.edu	37	2	33585790	33585790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:33585790C>A	ENST00000404816.2	+	27	4480	c.4127C>A	c.(4126-4128)tCa>tAa	p.S1376*	LTBP1_ENST00000354476.3_Nonsense_Mutation_p.S1377*|LTBP1_ENST00000272273.5_Nonsense_Mutation_p.S274*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.S1051*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.S1008*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.S1050*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.S995*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.S997*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1376	TB 3.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.S1377*(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCTGTACATCAGGCGTGGGA	0.468																																							uc002ros.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(4129-4131)TCA>TAA		latent transforming growth factor beta binding							120.0	110.0	113.0					2																	33585790		2203	4300	6503	SO:0001587	stop_gained	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33585790C>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4127C>A	2.37:g.33585790C>A	ENSP00000386043:p.Ser1376*					LTBP1_uc002rot.2_Nonsense_Mutation_p.S1051*|LTBP1_uc002rou.2_Nonsense_Mutation_p.S1050*|LTBP1_uc002rov.2_Nonsense_Mutation_p.S997*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.S1008*|LTBP1_uc010yna.1_Nonsense_Mutation_p.S955*|LTBP1_uc010ynb.1_Nonsense_Mutation_p.S274*	p.S1377*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			27	4130	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1376			TB 3.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	ENST00000404816.2	37	c.4130C>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	36	5.703810	0.96812	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	.	.	.	5.03	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	3.6688	0.08266	0.0:0.6379:0.0:0.3621	.	.	.	.	X	1376;1377;1051;1008;995;997;1050;274;212	.	ENSP00000272273:S274X	S	+	2	0	LTBP1	33439294	0.389000	0.25205	0.080000	0.20451	0.019000	0.09904	4.098000	0.57748	2.482000	0.83794	0.563000	0.77884	TCA		0.468	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		37	54	1	0	1.836e-18	0.003755	2.82722e-18	37	54				
TMEM178A	130733	broad.mit.edu	37	2	39931220	39931220	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:39931220G>T	ENST00000281961.2	+	2	456		c.e2-1		TMEM178A_ENST00000482239.1_Splice_Site	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A							integral component of membrane (GO:0016021)		p.?(1)									TTTCCTTCAAGGTATTGCGCA	0.443																																							uc002rrt.2		NA																	1	Unknown(1)		lung(1)		0						c.e2-1		transmembrane protein 178 precursor							80.0	72.0	75.0					2																	39931220		2203	4300	6503	SO:0001630	splice_region_variant	130733					integral to membrane		g.chr2:39931220G>T	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.401-1G>T	2.37:g.39931220G>T						TMEM178_uc010fam.1_Splice_Site_p.G134_splice	p.G134_splice	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN			2	426	+		all_hematologic(82;0.248)						Q6UWI6|Q8N6N4	Splice_Site	SNP	ENST00000281961.2	37	c.401_splice	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659471	0.88154	.	.	ENSG00000152154	ENST00000281961;ENST00000378734	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM178	39784724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.431000	0.90285	2.733000	0.93635	0.655000	0.94253	.		0.443	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390	Intron	12	24	1	0	9.31168e-06	0.001855	1.07212e-05	12	24				
SIX2	10736	broad.mit.edu	37	2	45236176	45236176	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:45236176C>A	ENST00000303077.6	-	1	393	c.74G>T	c.(73-75)gGc>gTc	p.G25V		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	25					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G25V(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCGATGTTGCCGCCCTGCTG	0.682																																							uc002ruo.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(73-75)GGC>GTC		SIX homeobox 2							16.0	16.0	16.0					2																	45236176		2200	4295	6495	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45236176C>A	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.74G>T	2.37:g.45236176C>A	ENSP00000304502:p.Gly25Val					SIX2_uc002rup.2_Missense_Mutation_p.G25V	p.G25V	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN			1	367	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	25					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.74G>T	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102439	0.76983	.	.	ENSG00000170577	ENST00000303077	D	0.90324	-2.65	4.25	3.33	0.38152	.	0.000000	0.85682	U	0.000000	D	0.95784	0.8628	H	0.94808	3.585	0.80722	D	1	D;D	0.56287	0.957;0.975	P;P	0.60345	0.71;0.873	D	0.96110	0.9076	10	0.87932	D	0	-18.7455	13.3425	0.60553	0.0:0.8395:0.1604:0.0	.	25;25	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	V	25	ENSP00000304502:G25V	ENSP00000304502:G25V	G	-	2	0	SIX2	45089680	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.675000	0.84002	0.706000	0.31912	0.462000	0.41574	GGC		0.682	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			3	12	1	0	0.00909568	0.009096	0.0095258	3	12				
ZNF638	27332	broad.mit.edu	37	2	71591170	71591170	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:71591170G>T	ENST00000409544.1	+	5	2135	c.1505G>T	c.(1504-1506)aGt>aTt	p.S502I	ZNF638_ENST00000264447.4_Missense_Mutation_p.S502I|ZNF638_ENST00000355812.3_Missense_Mutation_p.S502I|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.S502I	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	502	Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S502I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCAAGCTCAAGTCACAGATTC	0.458																																							uc002shx.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1504-1506)AGT>ATT		zinc finger protein 638							133.0	124.0	127.0					2																	71591170		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71591170G>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1505G>T	2.37:g.71591170G>T	ENSP00000386433:p.Ser502Ile					ZNF638_uc010fec.2_Missense_Mutation_p.S608I|ZNF638_uc010yqw.1_Missense_Mutation_p.S81I|ZNF638_uc002shw.2_Missense_Mutation_p.S502I|ZNF638_uc002shy.2_Missense_Mutation_p.S502I|ZNF638_uc002shz.2_Missense_Mutation_p.S502I|ZNF638_uc002sia.2_Missense_Mutation_p.S502I|ZNF638_uc002sib.1_Missense_Mutation_p.S502I|ZNF638_uc010fed.2_5'Flank	p.S502I	NM_014497	NP_055312	Q14966	ZN638_HUMAN			5	1824	+			502			Arg-rich.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.1505G>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987430	0.53934	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000394137;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.74947	-0.3;-0.89;0.28;-0.29;1.29;1.29	5.61	5.61	0.85477	.	0.207171	0.44097	D	0.000495	T	0.65943	0.2740	N	0.14661	0.345	0.28991	N	0.888058	P;D;P;P;P;P	0.53151	0.8;0.958;0.925;0.874;0.8;0.874	B;P;P;P;P;B	0.47981	0.276;0.563;0.466;0.466;0.467;0.347	T	0.66889	-0.5809	10	0.59425	D	0.04	-7.8626	15.1409	0.72609	0.0:0.0:1.0:0.0	.	502;608;502;502;502;502	A8K583;F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;.;ZN638_HUMAN;.	I	502;608;81;502;502;502;502	ENSP00000386669:S502I;ENSP00000438189:S608I;ENSP00000348066:S502I;ENSP00000367033:S502I;ENSP00000264447:S502I;ENSP00000386433:S502I	ENSP00000264447:S502I	S	+	2	0	ZNF638	71444678	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.337000	0.65941	2.658000	0.90341	0.585000	0.79938	AGT		0.458	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		28	76	1	0	5.45727e-16	0.008361	8.08922e-16	28	76				
ALMS1	7840	broad.mit.edu	37	2	73675761	73675761	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:73675761G>T	ENST00000264448.6	+	8	2215	c.2104G>T	c.(2104-2106)Gac>Tac	p.D702Y	ALMS1_ENST00000409009.1_Missense_Mutation_p.D660Y|ALMS1_ENST00000377715.1_Missense_Mutation_p.D702Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	702	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.D702Y(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGACCAGCTGACCAGAAGAC	0.478																																							uc002sje.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(2110-2112)GAC>TAC		Alstrom syndrome 1							110.0	108.0	109.0					2																	73675761		1896	4122	6018	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675761G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2104G>T	2.37:g.73675761G>T	ENSP00000264448:p.Asp702Tyr					ALMS1_uc002sjf.1_Missense_Mutation_p.D660Y|ALMS1_uc002sjg.2_Missense_Mutation_p.D90Y|ALMS1_uc002sjh.1_Missense_Mutation_p.D90Y	p.D704Y	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	2221	+			702			4.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.2110G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127435	0.37533	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.23552	2.77;2.77;1.9	4.11	3.24	0.37175	.	1.383460	0.04399	N	0.363930	T	0.41971	0.1182	L	0.39898	1.24	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.995	D;D;P	0.66847	0.947;0.935;0.874	T	0.21827	-1.0234	10	0.72032	D	0.01	.	7.9684	0.30113	0.1109:0.0:0.8891:0.0	.	702;660;702	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	Y	660;702;702	ENSP00000386627:D660Y;ENSP00000264448:D702Y;ENSP00000366944:D702Y	ENSP00000264448:D702Y	D	+	1	0	ALMS1	73529269	0.032000	0.19561	0.004000	0.12327	0.013000	0.08279	2.370000	0.44240	1.328000	0.45358	-0.140000	0.14226	GAC		0.478	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		50	93	1	0	6.81593e-30	0.00361	1.20762e-29	50	93				
REG3G	130120	broad.mit.edu	37	2	79253910	79253910	+	Missense_Mutation	SNP	C	C	A	rs565464469	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:79253910C>A	ENST00000272324.5	+	3	332	c.148C>A	c.(148-150)Ccc>Acc	p.P50T	REG3G_ENST00000393897.2_Missense_Mutation_p.P50T|REG3G_ENST00000409471.1_Missense_Mutation_p.P50T	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	50	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.P50T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTATGGCTCCCCCTGCTATGC	0.522																																							uc002snw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(148-150)CCC>ACC		regenerating islet-derived 3 gamma precursor							87.0	85.0	86.0					2																	79253910		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79253910C>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.148C>A	2.37:g.79253910C>A	ENSP00000272324:p.Pro50Thr					REG3G_uc002snx.2_Missense_Mutation_p.P50T|REG3G_uc010ffu.2_Missense_Mutation_p.P50T	p.P50T	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			3	233	+			50			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.148C>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384499	0.42308	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.16196	4.36;4.36;2.36	5.05	-5.38	0.02673	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.576639	0.15737	N	0.247095	T	0.06826	0.0174	N	0.04508	-0.205	0.09310	N	1	B;B	0.16603	0.0;0.018	B;B	0.15484	0.0;0.013	T	0.22730	-1.0208	10	0.45353	T	0.12	.	12.7549	0.57328	0.0:0.237:0.0:0.763	.	50;50	Q3SYE6;Q6UW15	.;REG3G_HUMAN	T	50	ENSP00000377475:P50T;ENSP00000272324:P50T;ENSP00000387105:P50T	ENSP00000272324:P50T	P	+	1	0	REG3G	79107418	0.000000	0.05858	0.001000	0.08648	0.472000	0.32918	-1.808000	0.01732	-1.021000	0.03350	0.655000	0.94253	CCC		0.522	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		23	35	1	0	2.32416e-17	0.002299	3.53554e-17	23	35				
CTNNA2	1496	broad.mit.edu	37	2	79878763	79878763	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:79878763G>T	ENST00000402739.4	+	1	86	c.81G>T	c.(79-81)ctG>ctT	p.L27L	MIR4264_ENST00000583520.1_RNA|CTNNA2_ENST00000540488.1_Silent_p.L27L|CTNNA2_ENST00000496558.1_Silent_p.L27L|CTNNA2_ENST00000541047.1_Silent_p.L27L|CTNNA2_ENST00000409266.1_Silent_p.L27L|CTNNA2_ENST00000466387.1_Silent_p.L27L|CTNNA2_ENST00000361291.4_Silent_p.L61L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	27					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.L27L(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGAAAGGCTGTTGGAGCCAC	0.423																																							uc010ysh.1		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(79-81)CTG>CTT		catenin, alpha 2 isoform 1							81.0	80.0	80.0					2																	79878763		1867	4098	5965	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79878763G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.81G>T	2.37:g.79878763G>T						CTNNA2_uc010yse.1_Silent_p.L27L|CTNNA2_uc010ysf.1_Silent_p.L27L|CTNNA2_uc010ysg.1_Silent_p.L27L|hsa-mir-4264|MI0015877_5'Flank	p.L27L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			1	86	+			27					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.81G>T																																																																																					0.423	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		32	36	1	0	1.26612e-14	0.003271	1.80908e-14	32	36				
CTNNA2	1496	broad.mit.edu	37	2	80816498	80816498	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:80816498G>C	ENST00000402739.4	+	14	2082	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q	AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E693Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E693Q|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E693Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E372Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.E693Q|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E727Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	693					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.E693Q(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATTCCATCAAGAGAAAAGCAA	0.488																																							uc010ysh.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2077-2079)GAG>CAG		catenin, alpha 2 isoform 1							109.0	119.0	116.0					2																	80816498		2197	4300	6497	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80816498G>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2077G>C	2.37:g.80816498G>C	ENSP00000384638:p.Glu693Gln					CTNNA2_uc010yse.1_Missense_Mutation_p.E693Q|CTNNA2_uc010ysf.1_Missense_Mutation_p.E693Q|CTNNA2_uc010ysg.1_Missense_Mutation_p.E693Q|CTNNA2_uc010ysi.1_Missense_Mutation_p.E325Q|CTNNA2_uc010ysj.1_Missense_Mutation_p.E22Q	p.E693Q	NM_004389	NP_004380	P26232	CTNA2_HUMAN			14	2082	+			693					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2077G>C		.	.	.	.	.	.	.	.	.	.	G	18.26	3.585445	0.66105	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.56769	1.78	0.80722	D	1	B;B;B;B	0.33777	0.185;0.425;0.171;0.171	B;B;B;B	0.32090	0.132;0.14;0.059;0.059	T	0.21348	-1.0248	9	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	325;693;693;693	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	693;693;727;693;693;693;372	ENSP00000418191:E693Q;ENSP00000419295:E693Q;ENSP00000355398:E727Q;ENSP00000384638:E693Q;ENSP00000444675:E693Q;ENSP00000441705:E693Q;ENSP00000341500:E372Q	.	E	+	1	0	CTNNA2	80670009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.836000	0.97738	0.655000	0.94253	GAG		0.488	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		22	52	0	0	0	0.010504	0	22	52				
SNRNP200	23020	broad.mit.edu	37	2	96945230	96945230	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:96945230C>A	ENST00000323853.5	-	36	5169	c.5092G>T	c.(5092-5094)Gat>Tat	p.D1698Y	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1698	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.D1698Y(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CGCCCCTCATCGTCCTGCAAA	0.532																																							uc002svu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(5092-5094)GAT>TAT		activating signal cointegrator 1 complex subunit							83.0	67.0	72.0					2																	96945230		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96945230C>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5092G>T	2.37:g.96945230C>A	ENSP00000317123:p.Asp1698Tyr					SNRNP200_uc002svt.2_Missense_Mutation_p.D308Y|SNRNP200_uc010yuj.1_RNA	p.D1698Y	NM_014014	NP_054733	O75643	U520_HUMAN			36	5178	-			1698			Helicase C-terminal 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.5092G>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516255	0.44763	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	D	0.91407	-2.84	5.3	5.3	0.74995	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92945	0.7755	M	0.90145	3.09	0.80722	D	1	B	0.34290	0.447	B	0.36335	0.222	D	0.93448	0.6799	10	0.72032	D	0.01	-19.2972	17.8935	0.88879	0.0:1.0:0.0:0.0	.	1698	O75643	U520_HUMAN	Y	1698;157;281	ENSP00000317123:D1698Y	ENSP00000317123:D1698Y	D	-	1	0	SNRNP200	96308957	1.000000	0.71417	0.733000	0.30861	0.166000	0.22503	7.253000	0.78320	2.775000	0.95449	0.650000	0.86243	GAT		0.532	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		9	16	1	0	7.48243e-07	0.006214	8.88686e-07	9	16				
RGPD3	653489	broad.mit.edu	37	2	107049613	107049613	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:107049613A>C	ENST00000409886.3	-	16	2421	c.2334T>G	c.(2332-2334)caT>caG	p.H778Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.H778Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	778					protein targeting to Golgi (GO:0000042)			p.H778Q(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATGGTGTAGAATGTTTTATTT	0.353																																							uc010ywi.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2332-2334)CAT>CAG		RANBP2-like and GRIP domain containing 3							8.0	17.0	14.0					2																	107049613		632	1470	2102	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049613A>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2334T>G	2.37:g.107049613A>C	ENSP00000386588:p.His778Gln						p.H778Q	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			16	2391	-			778					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2334T>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	2.678	-0.275937	0.05679	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.21734	1.99;1.99	2.34	1.13	0.20643	.	.	.	.	.	T	0.19046	0.0457	L	0.60455	1.87	0.26678	N	0.9716	B	0.18166	0.026	B	0.22601	0.04	T	0.26430	-1.0103	9	0.33141	T	0.24	-10.6572	5.4296	0.16446	0.8425:0.0:0.1575:0.0	.	778	A6NKT7	RGPD3_HUMAN	Q	778;536;778	ENSP00000386588:H778Q;ENSP00000303659:H778Q	ENSP00000303659:H778Q	H	-	3	2	RGPD3	106416045	1.000000	0.71417	0.925000	0.36789	0.037000	0.13140	0.833000	0.27504	0.164000	0.19529	0.145000	0.16022	CAT		0.353	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		32	192	0	0	0	0.00361	0	32	192				
ST6GAL2	84620	broad.mit.edu	37	2	107459835	107459835	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:107459835G>A	ENST00000409382.3	-	2	1209	c.599C>T	c.(598-600)tCc>tTc	p.S200F	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S200F|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S200F	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	200					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.S200F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAGGCCCTGGACATGGAGGA	0.612																																							uc002tdq.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(598-600)TCC>TTC		ST6 beta-galactosamide							76.0	74.0	75.0					2																	107459835		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459835G>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.599C>T	2.37:g.107459835G>A	ENSP00000386942:p.Ser200Phe					ST6GAL2_uc002tdr.2_Missense_Mutation_p.S200F|ST6GAL2_uc002tds.3_Missense_Mutation_p.S200F	p.S200F	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	718	-			200			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.599C>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195878	0.78902	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.39406	2.11;2.11;1.08	5.31	5.31	0.75309	.	0.237014	0.44483	D	0.000459	T	0.61540	0.2355	M	0.76574	2.34	0.58432	D	0.999993	D;P	0.54207	0.965;0.901	P;P	0.57152	0.814;0.51	T	0.65952	-0.6043	10	0.72032	D	0.01	-16.8716	17.9572	0.89073	0.0:0.0:1.0:0.0	.	200;200	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	F	200	ENSP00000355273:S200F;ENSP00000386942:S200F;ENSP00000387332:S200F	ENSP00000355273:S200F	S	-	2	0	ST6GAL2	106826267	1.000000	0.71417	0.997000	0.53966	0.774000	0.43823	5.909000	0.69923	2.486000	0.83907	0.561000	0.74099	TCC		0.612	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		26	49	0	0	0	0.00333	0	26	49				
EDAR	10913	broad.mit.edu	37	2	109545663	109545663	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:109545663C>T	ENST00000258443.2	-	4	777	c.347G>A	c.(346-348)tGc>tAc	p.C116Y	EDAR_ENST00000409271.1_Missense_Mutation_p.C116Y|EDAR_ENST00000376651.1_Missense_Mutation_p.C116Y	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	116					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.C116Y(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CCCAGGGAGGCAAGGGCCACA	0.607																																							uc002teq.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(346-348)TGC>TAC		ectodysplasin A receptor precursor							76.0	56.0	63.0					2																	109545663		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109545663C>T	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.347G>A	2.37:g.109545663C>T	ENSP00000258443:p.Cys116Tyr					EDAR_uc010fjn.2_Missense_Mutation_p.C116Y|EDAR_uc010yws.1_Missense_Mutation_p.C116Y	p.C116Y	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN			4	778	-			116			TNFR-Cys 3.|Extracellular (Potential).		B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.347G>A	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280028	0.59758	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.95377	-3.52;-3.69;-3.52	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	M	0.89353	3.025	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	D	0.99066	1.0832	10	0.87932	D	0	-14.6577	18.8486	0.92218	0.0:1.0:0.0:0.0	.	116;116	E9PC98;Q9UNE0	.;EDAR_HUMAN	Y	116	ENSP00000386371:C116Y;ENSP00000258443:C116Y;ENSP00000365839:C116Y	ENSP00000258443:C116Y	C	-	2	0	EDAR	108912095	1.000000	0.71417	0.755000	0.31263	0.322000	0.28314	7.398000	0.79919	2.446000	0.82766	0.462000	0.41574	TGC		0.607	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			8	26	0	0	0	0.008291	0	8	26				
CCDC93	54520	broad.mit.edu	37	2	118698795	118698795	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:118698795G>C	ENST00000376300.2	-	19	1629	c.1492C>G	c.(1492-1494)Cag>Gag	p.Q498E	CCDC93_ENST00000319432.5_Missense_Mutation_p.Q497E	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	498								p.Q498E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AATCTCTTCTGATACTGTATT	0.478																																							uc002tlj.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1492-1494)CAG>GAG		coiled-coil domain containing 93							141.0	128.0	133.0					2																	118698795		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118698795G>C	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1492C>G	2.37:g.118698795G>C	ENSP00000365477:p.Gln498Glu					CCDC93_uc010fld.1_Missense_Mutation_p.Q498E	p.Q498E	NM_019044	NP_061917	Q567U6	CCD93_HUMAN			19	1618	-			498					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.1492C>G	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912395	0.92178	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.63744	-0.06;-0.06	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71199	-0.4663	10	0.30078	T	0.28	-19.5449	17.2931	0.87163	0.0:0.0:1.0:0.0	.	498	Q567U6	CCD93_HUMAN	E	498;497	ENSP00000365477:Q498E;ENSP00000324135:Q497E	ENSP00000324135:Q497E	Q	-	1	0	CCDC93	118415265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.652000	0.91083	2.761000	0.94854	0.655000	0.94253	CAG		0.478	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		40	79	0	0	0	0.013114	0	40	79				
IWS1	55677	broad.mit.edu	37	2	128252492	128252492	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:128252492C>A	ENST00000295321.4	-	8	2014	c.1755G>T	c.(1753-1755)ctG>ctT	p.L585L	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	585	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L585L(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTAATTTTTTCAGTGCTGGCT	0.259																																							uc002ton.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1753-1755)CTG>CTT		IWS1 homolog							88.0	93.0	92.0					2																	128252492		2202	4290	6492	SO:0001819	synonymous_variant	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128252492C>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1755G>T	2.37:g.128252492C>A						IWS1_uc010yzl.1_RNA	p.L585L	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	8	2058	-	Colorectal(110;0.1)		585					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Silent	SNP	ENST00000295321.4	37	c.1755G>T	CCDS2146.1																																																																																				0.259	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		25	58	1	0	7.38237e-10	0.00632	9.55141e-10	25	58				
MYO7B	4648	broad.mit.edu	37	2	128322932	128322933	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:128322932_128322933TG>CT	ENST00000409816.2	+	3	289_290	c.257_258TG>CT	c.(256-258)cTG>cCT	p.L86P	MYO7B_ENST00000428314.1_Missense_Mutation_p.L86P|MYO7B_ENST00000389524.4_Missense_Mutation_p.L86P			Q6PIF6	MYO7B_HUMAN	myosin VIIB	86	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L86P(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CACAACCTCCTGATCCGCTACC	0.594																																							uc002top.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(256-258)CTG>CCT		myosin VIIB																																				SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128322932_128322933TG>CT		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	Exception_encountered	2.37:g.128322932_128322933delinsCT	ENSP00000386461:p.Leu86Pro						p.L86P	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	4	310_311	+	Colorectal(110;0.1)		86			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	DNP	ENST00000409816.2	37	c.257_258TG>CT	CCDS46405.1																																																																																				0.594	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		16	30	0	0	0	0.004672	0	16	30				
POTEE	445582	broad.mit.edu	37	2	131984447	131984447	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:131984447G>A	ENST00000356920.5	+	4	956	c.862G>A	c.(862-864)Gtg>Atg	p.V288M	POTEE_ENST00000358087.5_Missense_Mutation_p.V298M|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|RNU6-127P_ENST00000390897.1_RNA	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	288					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V288M(1)|p.V298M(1)									ACAGCAAGTCGTGAAATTTTT	0.333																																							uc002tsn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(862-864)GTG>ATG		protein expressed in prostate, ovary, testis,							97.0	114.0	108.0					2																	131984447		1504	2704	4208	SO:0001583	missense	445582						ATP binding	g.chr2:131984447G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.862G>A	2.37:g.131984447G>A	ENSP00000439189:p.Val288Met					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Translation_Start_Site|POTEE_uc002tsl.2_Translation_Start_Site	p.V288M	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			4	914	+			288			ANK 4.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.862G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.010318	0.35511	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.73152	-0.67;-0.72	1.16	1.16	0.20824	Ankyrin repeat-containing domain (4);	0.245264	0.20338	U	0.094293	T	0.78368	0.4272	M	0.83692	2.655	0.09310	N	0.999994	D	0.76494	0.999	P	0.59424	0.857	T	0.66555	-0.5894	10	0.87932	D	0	.	5.7399	0.18087	0.0:0.0:1.0:0.0	.	288	Q6S8J3	POTEE_HUMAN	M	288;298	ENSP00000439189:V288M;ENSP00000443049:V298M	ENSP00000439189:V288M	V	+	1	0	AC131180.1	131700917	0.998000	0.40836	0.026000	0.17262	0.087000	0.18053	3.446000	0.52928	0.945000	0.37605	0.162000	0.16502	GTG		0.333	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		29	129	0	0	0	0.00623	0	29	129				
MAP3K19	80122	broad.mit.edu	37	2	135745412	135745412	+	Missense_Mutation	SNP	C	C	A	rs145468662		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:135745412C>A	ENST00000375845.3	-	7	1060	c.1030G>T	c.(1030-1032)Gtt>Ttt	p.V344F	MAP3K19_ENST00000392915.1_Missense_Mutation_p.V361F|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.V231F|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	344							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V344F(1)									TCTTCCCTAACTGCAGGAATA	0.373																																							uc002tue.1		NA																	1	Substitution - Missense(1)		lung(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1030-1032)GTT>TTT		Yeast Sps1/Ste20-related kinase 4 isoform 1							61.0	60.0	61.0					2																	135745412		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745412C>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1030G>T	2.37:g.135745412C>A	ENSP00000365005:p.Val344Phe					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.V231F|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.V72F|YSK4_uc002tui.3_Missense_Mutation_p.V361F	p.V344F	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1061	-			344					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1030G>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	6.622	0.483184	0.12581	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.70045	-0.45;-0.45;1.92	4.67	3.77	0.43336	.	0.662732	0.12578	N	0.456732	T	0.47432	0.1445	N	0.08118	0	0.48236	D	0.999614	B;B;B	0.17038	0.02;0.02;0.012	B;B;B	0.09377	0.002;0.004;0.001	T	0.42207	-0.9465	10	0.87932	D	0	.	11.4995	0.50428	0.1794:0.8206:0.0:0.0	.	231;361;344	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	F	344;231;361	ENSP00000365005:V344F;ENSP00000351140:V231F;ENSP00000376647:V361F	ENSP00000351140:V231F	V	-	1	0	YSK4	135461882	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	0.011000	0.13264	1.135000	0.42183	0.637000	0.83480	GTT		0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		25	33	1	0	9.57634e-11	0.00333	1.28309e-10	25	33				
TANC1	85461	broad.mit.edu	37	2	160020007	160020007	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:160020007A>T	ENST00000263635.6	+	8	1133	c.896A>T	c.(895-897)tAt>tTt	p.Y299F	TANC1_ENST00000454300.1_Missense_Mutation_p.Y193F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	299					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.Y299F(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCAGTCCCTTATTCTCAGGGC	0.557																																							uc002uag.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(895-897)TAT>TTT		tetratricopeptide repeat, ankyrin repeat and							57.0	64.0	62.0					2																	160020007		2015	4176	6191	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160020007A>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.896A>T	2.37:g.160020007A>T	ENSP00000263635:p.Tyr299Phe					TANC1_uc010fol.1_Missense_Mutation_p.Y193F|TANC1_uc010zcm.1_Missense_Mutation_p.Y298F|TANC1_uc010fom.1_Intron	p.Y299F	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			8	1170	+			299					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.896A>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621951	0.87460	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70869	-0.52;-0.5	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.79782	0.4505	L	0.60455	1.87	0.58432	D	0.999997	D;P	0.69078	0.997;0.94	D;P	0.70716	0.97;0.601	T	0.75056	-0.3452	10	0.13108	T	0.6	.	16.3756	0.83387	1.0:0.0:0.0:0.0	.	298;299	B9EK39;Q9C0D5	.;TANC1_HUMAN	F	193;299	ENSP00000396339:Y193F;ENSP00000263635:Y299F	ENSP00000263635:Y299F	Y	+	2	0	TANC1	159728253	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.061000	0.93913	2.270000	0.75569	0.460000	0.39030	TAT		0.557	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			17	36	0	0	0	0.006122	0	17	36				
BAZ2B	29994	broad.mit.edu	37	2	160287467	160287467	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:160287467G>A	ENST00000392783.2	-	10	2596	c.2101C>T	c.(2101-2103)Cca>Tca	p.P701S	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P699S|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P701S|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	701					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P701S(1)		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						GCAGAGCCTGGGGCTTTTGCT	0.463																																							uc002uao.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2101-2103)CCA>TCA		bromodomain adjacent to zinc finger domain, 2B							175.0	170.0	172.0					2																	160287467		1925	4144	6069	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160287467G>A	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.2101C>T	2.37:g.160287467G>A	ENSP00000376534:p.Pro701Ser					BAZ2B_uc002uap.2_Missense_Mutation_p.P699S|BAZ2B_uc002uaq.1_Intron|BAZ2B_uc002uar.1_Missense_Mutation_p.P274S	p.P701S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			10	2453	-			701					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.2101C>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173358	0.57584	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.22134	1.97;1.97;1.97	5.71	5.71	0.89125	.	0.000000	0.36591	U	0.002511	T	0.17746	0.0426	L	0.32530	0.975	0.80722	D	1	B;B;B	0.34200	0.165;0.23;0.441	B;B;B	0.30855	0.121;0.058;0.091	T	0.02150	-1.1205	10	0.49607	T	0.09	-12.4048	14.9846	0.71336	0.0701:0.0:0.9299:0.0	.	505;699;701	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	S	699;701;701	ENSP00000376533:P699S;ENSP00000376534:P701S;ENSP00000348087:P701S	ENSP00000348087:P701S	P	-	1	0	BAZ2B	159995713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.658000	0.61497	2.694000	0.91930	0.643000	0.83706	CCA		0.463	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			39	82	0	0	0	0.007835	0	39	82				
XIRP2	129446	broad.mit.edu	37	2	168101499	168101499	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:168101499C>A	ENST00000409195.1	+	9	3686	c.3597C>A	c.(3595-3597)agC>agA	p.S1199R	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1199R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S977R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1024					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)		p.S1199R(1)		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						ATGTTTCCAGCATGAGGTATA	0.333																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(3595-3597)AGC>AGA		xin actin-binding repeat containing 2 isoform 1							67.0	62.0	64.0					2																	168101499		1826	4079	5905	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101499C>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.3597C>A	2.37:g.168101499C>A	ENSP00000386840:p.Ser1199Arg					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S1024R|XIRP2_uc010fpq.2_Missense_Mutation_p.S977R|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.S1199R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3615	+			1024			Xin 19.		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.3597C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	7.056	0.565333	0.13498	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.01838	4.61;4.61;4.62	5.91	3.01	0.34805	.	0.385862	0.33005	N	0.005386	T	0.01558	0.0050	L	0.38838	1.175	0.29492	N	0.855537	B;B;B	0.24823	0.038;0.063;0.112	B;B;B	0.15484	0.006;0.013;0.013	T	0.42224	-0.9464	10	0.02654	T	1	-0.7025	5.1388	0.14948	0.1462:0.625:0.0:0.2288	.	1024;1024;977	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	1199;1199;977	ENSP00000386840:S1199R;ENSP00000295237:S1199R;ENSP00000387255:S977R	ENSP00000295237:S1199R	S	+	3	2	XIRP2	167809745	0.867000	0.29959	0.896000	0.35187	0.702000	0.40608	0.062000	0.14389	0.847000	0.35167	0.655000	0.94253	AGC		0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		23	31	1	0	2.70639e-06	0.002299	3.14493e-06	23	31				
STK39	27347	broad.mit.edu	37	2	168996894	168996894	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:168996894C>A	ENST00000355999.4	-	7	1450	c.745G>T	c.(745-747)Ggc>Tgc	p.G249C		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)	p.G249C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						AAGTCATAGCCTCTCACCTAA	0.413																																							uc002uea.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(745-747)GGC>TGC		serine threonine kinase 39 (STE20/SPS1 homolog,							87.0	81.0	83.0					2																	168996894		1946	4156	6102	SO:0001583	missense	27347				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity	g.chr2:168996894C>A	AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.745G>T	2.37:g.168996894C>A	ENSP00000348278:p.Gly249Cys						p.G249C	NM_013233	NP_037365	Q9UEW8	STK39_HUMAN			7	905	-			249			Protein kinase.		O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	ENST00000355999.4	37	c.745G>T	CCDS42770.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037337	0.93630	.	.	ENSG00000198648	ENST00000355999	T	0.67523	-0.27	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83295	-0.0031	10	0.87932	D	0	-0.008	20.5827	0.99408	0.0:1.0:0.0:0.0	.	249	Q9UEW8	STK39_HUMAN	C	249	ENSP00000348278:G249C	ENSP00000348278:G249C	G	-	1	0	STK39	168705140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGC		0.413	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233		20	23	1	0	1.64113e-05	0.010504	1.87808e-05	20	23				
HOXD10	3236	broad.mit.edu	37	2	176982209	176982209	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:176982209G>A	ENST00000249501.4	+	1	903	c.648G>A	c.(646-648)gtG>gtA	p.V216V	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	216					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V216V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TCTCCCAGGTGGAGAGCCCCG	0.642																																							uc002ukj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(646-648)GTG>GTA		homeobox D10							22.0	27.0	25.0					2																	176982209		2198	4284	6482	SO:0001819	synonymous_variant	3236					nucleus	sequence-specific DNA binding	g.chr2:176982209G>A		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.648G>A	2.37:g.176982209G>A							p.V216V	NM_002148	NP_002139	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	718	+			216					Q6NT10	Silent	SNP	ENST00000249501.4	37	c.648G>A	CCDS2266.1																																																																																				0.642	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			3	26	0	0	0	0.004672	0	3	26				
TTN	7273	broad.mit.edu	37	2	179459155	179459155	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:179459155C>A	ENST00000591111.1	-	246	53367	c.53143G>T	c.(53143-53145)Gag>Tag	p.E17715*	TTN_ENST00000589042.1_Nonsense_Mutation_p.E19356*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E10416*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E10483*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E16788*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E10291*			Q8WZ42	TITIN_HUMAN	titin	17715	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E16788*(1)|p.E10483*(1)|p.E10291*(1)|p.E10416*(1)|p.E16786*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACGGTACTCATAGGTATCA	0.413																																							uc010zfg.1		NA																	5	Substitution - Nonsense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(50362-50364)GAG>TAG		titin isoform N2-A							146.0	146.0	146.0					2																	179459155		1943	4142	6085	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179459155C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53143G>T	2.37:g.179459155C>A	ENSP00000465570:p.Glu17715*					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E10483*|TTN_uc010zfi.1_Nonsense_Mutation_p.E10416*|TTN_uc010zfj.1_Nonsense_Mutation_p.E10291*	p.E16788*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	50586	-			17715					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.50362G>T		.	.	.	.	.	.	.	.	.	.	C	60	50.753105	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	16788;10291;10483;10416;10289	.	ENSP00000340554:E10483X	E	-	1	0	TTN	179167401	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.760000	0.85248	2.941000	0.99782	0.655000	0.94253	GAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	86	1	0	2.35188e-11	0.006122	3.17947e-11	17	86				
TTN	7273	broad.mit.edu	37	2	179460446	179460446	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:179460446C>A	ENST00000591111.1	-	245	52936	c.52712G>T	c.(52711-52713)gGa>gTa	p.G17571V	TTN_ENST00000589042.1_Missense_Mutation_p.G19212V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G10272V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10339V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16644V|TTN_ENST00000460472.2_Missense_Mutation_p.G10147V			Q8WZ42	TITIN_HUMAN	titin	17571	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G10339V(1)|p.G16644V(1)|p.G16642V(1)|p.G10147V(1)|p.G10272V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAGAGCCTCCATCATCTTC	0.458																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(49930-49932)GGA>GTA		titin isoform N2-A							84.0	77.0	79.0					2																	179460446		1908	4128	6036	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179460446C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52712G>T	2.37:g.179460446C>A	ENSP00000465570:p.Gly17571Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G10339V|TTN_uc010zfi.1_Missense_Mutation_p.G10272V|TTN_uc010zfj.1_Missense_Mutation_p.G10147V	p.G16644V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		244	50155	-			17571					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49931G>T		.	.	.	.	.	.	.	.	.	.	C	18.29	3.591972	0.66219	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.05	6.05	0.98169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80444	0.4624	M	0.91459	3.21	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;1.0	T	0.83223	-0.0067	9	0.87932	D	0	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	10147;10272;10339;17571	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	16644;10147;10339;10272;10145	ENSP00000343764:G16644V;ENSP00000434586:G10147V;ENSP00000340554:G10339V;ENSP00000352154:G10272V	ENSP00000340554:G10339V	G	-	2	0	TTN	179168692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.878000	0.98634	0.650000	0.86243	GGA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	8	1	0	8.12818e-05	0.001984	9.16246e-05	6	8				
TTN	7273	broad.mit.edu	37	2	179546142	179546142	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:179546142C>A	ENST00000591111.1	-	135	32481	c.32257G>T	c.(32257-32259)Gtg>Ttg	p.V10753L	TTN_ENST00000589042.1_Missense_Mutation_p.V11070L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9826L|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	11717	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V9826L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATGGGCACTGGTACTTTT	0.348																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(29476-29478)GTG>TTG		titin isoform N2-A							229.0	205.0	213.0					2																	179546142		1841	4088	5929	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179546142C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32257G>T	2.37:g.179546142C>A	ENSP00000465570:p.Val10753Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6487L|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	p.V9826L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		134	29700	-			10753					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.29476G>T		.	.	.	.	.	.	.	.	.	.	C	12.52	1.963969	0.34659	.	.	ENSG00000155657	ENST00000342992	T	0.61742	0.08	5.62	1.71	0.24356	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.34424	0.0897	N	0.14661	0.345	0.20307	N	0.999911	B	0.02656	0.0	B	0.01281	0.0	T	0.28004	-1.0057	9	0.87932	D	0	.	1.7531	0.02976	0.1161:0.3743:0.2385:0.2711	.	10753	Q8WZ42	TITIN_HUMAN	L	9826	ENSP00000343764:V9826L	ENSP00000343764:V9826L	V	-	1	0	TTN	179254387	0.000000	0.05858	0.992000	0.48379	0.993000	0.82548	-0.683000	0.05179	0.387000	0.25024	0.650000	0.86243	GTG		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	16	1	0	0.000274275	0.004482	0.000302385	8	16				
DNAH7	56171	broad.mit.edu	37	2	196913024	196913024	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:196913024G>A	ENST00000312428.6	-	4	346	c.246C>T	c.(244-246)tcC>tcT	p.S82S	DNAH7_ENST00000410072.1_Silent_p.S82S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	82	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.S82S(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTTACCATGGGACTGTTCAT	0.368																																							uc002utj.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(2)	12						c.(244-246)TCC>TCT		dynein, axonemal, heavy chain 7							108.0	100.0	103.0					2																	196913024		1842	4094	5936	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196913024G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.246C>T	2.37:g.196913024G>A							p.S82S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			4	347	-			82			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.246C>T	CCDS42794.1																																																																																				0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		24	31	0	0	0	0.004656	0	24	31				
ICA1L	130026	broad.mit.edu	37	2	203644316	203644316	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:203644316C>T	ENST00000392237.2	-	14	1546	c.1389G>A	c.(1387-1389)ttG>ttA	p.L463L	ICA1L_ENST00000358299.2_Silent_p.L463L	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	463								p.L463L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAAGTGGATCCAAGTCTGCAA	0.378																																							uc002uzh.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1387-1389)TTG>TTA		islet cell autoantigen 1,69kDa-like isoform 1							142.0	133.0	136.0					2																	203644316		2203	4300	6503	SO:0001819	synonymous_variant	130026							g.chr2:203644316C>T	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.1389G>A	2.37:g.203644316C>T						ICA1L_uc002uzi.1_Silent_p.L463L	p.L463L	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN			14	1553	-			463					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Silent	SNP	ENST00000392237.2	37	c.1389G>A	CCDS2354.1																																																																																				0.378	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468		24	31	0	0	0	0.00632	0	24	31				
CD28	940	broad.mit.edu	37	2	204599581	204599581	+	Silent	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:204599581C>G	ENST00000324106.8	+	4	758	c.609C>G	c.(607-609)cgC>cgG	p.R203R	CD28_ENST00000458610.2_Silent_p.R217R|CD28_ENST00000374481.3_Silent_p.R119R|CD28_ENST00000374478.4_Silent_p.R84R	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	203					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)	p.R203R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GGCCCACCCGCAAGCATTACC	0.622																																							uc002vah.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(607-609)CGC>CGG		CD28 antigen precursor							64.0	70.0	68.0					2																	204599581		2203	4300	6503	SO:0001819	synonymous_variant	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204599581C>G	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.609C>G	2.37:g.204599581C>G						CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Silent_p.R84R|CD28_uc002vaj.3_RNA	p.R203R	NM_006139	NP_006130	P10747	CD28_HUMAN			4	831	+			203			Cytoplasmic (Potential).		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Silent	SNP	ENST00000324106.8	37	c.609C>G	CCDS2361.1																																																																																				0.622	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		14	61	0	0	0	0.001855	0	14	61				
DYTN	391475	broad.mit.edu	37	2	207527692	207527692	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:207527692T>C	ENST00000452335.2	-	11	1684	c.1568A>G	c.(1567-1569)gAg>gGg	p.E523G		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	523	Poly-Glu.					plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.E523G(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTCCTCTTCCTCCAGCTCATC	0.463																																							uc002vbr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1567-1569)GAG>GGG		dystrotelin							255.0	246.0	249.0					2																	207527692		1969	4151	6120	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207527692T>C	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1568A>G	2.37:g.207527692T>C	ENSP00000396593:p.Glu523Gly						p.E523G	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	11	1685	-			523			Potential.|Poly-Glu.			Missense_Mutation	SNP	ENST00000452335.2	37	c.1568A>G	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839870	0.51057	.	.	ENSG00000232125	ENST00000452335	T	0.17213	2.29	5.13	3.99	0.46301	.	.	.	.	.	T	0.19886	0.0478	L	0.27053	0.805	0.23440	N	0.997672	D	0.65815	0.995	P	0.57425	0.82	T	0.08106	-1.0738	9	0.33141	T	0.24	-9.2449	7.027	0.24946	0.0:0.0982:0.0:0.9018	.	523	A2CJ06	DYTN_HUMAN	G	523	ENSP00000396593:E523G	ENSP00000396593:E523G	E	-	2	0	DYTN	207235937	0.007000	0.16637	0.986000	0.45419	0.736000	0.42039	0.875000	0.28079	2.279000	0.76181	0.533000	0.62120	GAG		0.463	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			4	192	0	0	0	0.001168	0	4	192				
MAP2	4133	broad.mit.edu	37	2	210558179	210558179	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:210558179A>T	ENST00000360351.4	+	7	1791	c.1285A>T	c.(1285-1287)Agt>Tgt	p.S429C	MAP2_ENST00000447185.1_Missense_Mutation_p.S425C|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	429					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.S429C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TTTCACCCCCAGTGGACAGGA	0.418																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(1285-1287)AGT>TGT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						80.0	83.0	82.0					2																	210558179		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558179A>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1285A>T	2.37:g.210558179A>T	ENSP00000353508:p.Ser429Cys					MAP2_uc002vdc.1_Missense_Mutation_p.S429C|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S425C	p.S429C	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1533	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	429					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1285A>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	8.503	0.864780	0.17250	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.25749	1.78;1.78;1.78	5.7	1.94	0.25998	MAP2/Tau projection (1);	0.655437	0.15630	N	0.252422	T	0.23649	0.0572	N	0.22421	0.69	0.09310	N	1	D;D	0.60160	0.984;0.987	P;P	0.54372	0.634;0.75	T	0.06752	-1.0809	10	0.72032	D	0.01	0.8637	4.9455	0.13987	0.595:0.0:0.2746:0.1304	.	425;429	P11137-3;P11137	.;MAP2_HUMAN	C	429;511;425	ENSP00000353508:S429C;ENSP00000409969:S511C;ENSP00000392164:S425C	ENSP00000353508:S429C	S	+	1	0	MAP2	210266424	0.176000	0.23096	0.024000	0.17045	0.072000	0.16883	1.513000	0.35823	0.417000	0.25871	0.528000	0.53228	AGT		0.418	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		22	26	0	0	0	0.00278	0	22	26				
UNC80	285175	broad.mit.edu	37	2	210642131	210642131	+	Missense_Mutation	SNP	C	C	A	rs201833017		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:210642131C>A	ENST00000439458.1	+	4	528	c.448C>A	c.(448-450)Cac>Aac	p.H150N	UNC80_ENST00000272845.6_Missense_Mutation_p.H150N|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	150					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H150N(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TGCTTTCATCCACCAGGTTGA	0.552																																							uc010zjc.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(448-450)CAC>AAC		chromosome 2 open reading frame 21 isoform 1							72.0	74.0	73.0					2																	210642131		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210642131C>A	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.448C>A	2.37:g.210642131C>A	ENSP00000391088:p.His150Asn					UNC80_uc002vdj.1_Missense_Mutation_p.H150N	p.H150N	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN			4	528	+			150					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.448C>A	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067238	0.76301	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.32988	1.43;1.43	6.08	6.08	0.98989	.	0.050097	0.85682	D	0.000000	T	0.34542	0.0901	L	0.29908	0.895	0.80722	D	1	P;P	0.47910	0.571;0.902	B;P	0.46543	0.163;0.52	T	0.04128	-1.0975	10	0.72032	D	0.01	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	150;150	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	N	150	ENSP00000391088:H150N;ENSP00000272845:H150N	ENSP00000272845:H150N	H	+	1	0	UNC80	210350376	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.583000	0.82559	2.894000	0.99253	0.655000	0.94253	CAC		0.552	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		14	50	1	0	9.31168e-06	0.001855	1.07212e-05	14	50				
MRPL44	65080	broad.mit.edu	37	2	224828609	224828609	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:224828609G>A	ENST00000258383.3	+	3	854	c.785G>A	c.(784-786)gGt>gAt	p.G262D	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	262	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.G262D(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGGCAGTCTGGTGGCACCACA	0.373																																							uc002vnr.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(784-786)GGT>GAT		mitochondrial ribosomal protein L44 precursor							109.0	108.0	108.0					2																	224828609		2203	4300	6503	SO:0001583	missense	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224828609G>A	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.785G>A	2.37:g.224828609G>A	ENSP00000258383:p.Gly262Asp						p.G262D	NM_022915	NP_075066	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	3	854	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	262			DRBM.		Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	c.785G>A	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560348	0.86335	.	.	ENSG00000135900	ENST00000258383	T	0.77098	-1.07	5.7	5.7	0.88788	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.90683	0.7077	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92304	0.5852	10	0.87932	D	0	-1.195	17.3146	0.87220	0.0:0.0:1.0:0.0	.	262	Q9H9J2	RM44_HUMAN	D	262	ENSP00000258383:G262D	ENSP00000258383:G262D	G	+	2	0	MRPL44	224536853	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	9.174000	0.94824	2.680000	0.91292	0.591000	0.81541	GGT		0.373	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		34	37	0	0	0	0.005524	0	34	37				
DGKD	8527	broad.mit.edu	37	2	234370997	234370997	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:234370997C>A	ENST00000264057.2	+	25	2997	c.2985C>A	c.(2983-2985)atC>atA	p.I995I	DGKD_ENST00000409813.3_Silent_p.I951I	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	995					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I995I(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCTCTAGTATCCGAGAAATAG	0.567																																							uc002vui.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(2983-2985)ATC>ATA		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						73.0	67.0	69.0					2																	234370997		2203	4300	6503	SO:0001819	synonymous_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234370997C>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2985C>A	2.37:g.234370997C>A						DGKD_uc002vuj.1_Silent_p.I951I|DGKD_uc010fyi.1_RNA	p.I995I	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	25	2997	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	995					Q14158|Q6PK55|Q8NG53	Silent	SNP	ENST00000264057.2	37	c.2985C>A	CCDS2504.1																																																																																				0.567	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		5	35	1	0	0.000602214	0.000602	0.00065911	5	35				
PRR21	643905	broad.mit.edu	37	2	240982289	240982289	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:240982289G>T	ENST00000408934.1	-	1	110	c.111C>A	c.(109-111)caC>caA	p.H37Q		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	37								p.H37Q(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGGGCCATGGGTGAAGAGCCG	0.572																																							uc010zod.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(109-111)CAC>CAA		proline rich 21							109.0	96.0	100.0					2																	240982289		2203	4300	6503	SO:0001583	missense	643905							g.chr2:240982289G>T	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.111C>A	2.37:g.240982289G>T	ENSP00000386166:p.His37Gln						p.H37Q	NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN			1	111	-			37						Missense_Mutation	SNP	ENST00000408934.1	37	c.111C>A	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	N	2.457	-0.324923	0.05350	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.25579	1.79;1.79	1.67	-0.411	0.12370	.	.	.	.	.	T	0.11024	0.0269	N	0.08118	0	0.09310	N	1	B	0.27594	0.182	B	0.33121	0.158	T	0.39375	-0.9617	9	0.16896	T	0.51	.	3.5388	0.07803	0.1675:0.0:0.5877:0.2449	.	37	Q8WXC7	PRR21_HUMAN	Q	37	ENSP00000386166:H37Q;ENSP00000418240:H37Q	ENSP00000386166:H37Q	H	-	3	2	PRR21	240630962	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.340000	0.07821	-0.123000	0.11745	-0.475000	0.04921	CAC		0.572	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		6	9	1	0	8.12818e-05	0.001984	9.16246e-05	6	9				
ANKMY1	51281	broad.mit.edu	37	2	241463637	241463637	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:241463637C>A	ENST00000272972.3	-	7	1444	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	ANKMY1_ENST00000373320.4_Missense_Mutation_p.E180D|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000405523.3_Missense_Mutation_p.E269D|ANKMY1_ENST00000536462.1_Missense_Mutation_p.E222D|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000361678.4_Missense_Mutation_p.E269D|ANKMY1_ENST00000391987.1_Missense_Mutation_p.E410D|ANKMY1_ENST00000401804.1_Missense_Mutation_p.E499D|ANKMY1_ENST00000373318.2_Missense_Mutation_p.E269D|ANKMY1_ENST00000405002.1_Missense_Mutation_p.E180D|ANKMY1_ENST00000403283.1_Missense_Mutation_p.E348D	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	410							metal ion binding (GO:0046872)	p.E410D(1)|p.E269D(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGTGGCCGCCCTCGTGGCTGC	0.642																																							uc002vyz.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1228-1230)GAG>GAT		ankyrin repeat and MYND domain containing 1							53.0	54.0	54.0					2																	241463637		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241463637C>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1230G>T	2.37:g.241463637C>A	ENSP00000272972:p.Glu410Asp					ANKMY1_uc002vza.1_Missense_Mutation_p.E269D|ANKMY1_uc010fzd.1_Missense_Mutation_p.E499D|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.E269D|ANKMY1_uc002vzd.1_Missense_Mutation_p.E269D|ANKMY1_uc010fze.1_Missense_Mutation_p.E79D|ANKMY1_uc002vze.2_Missense_Mutation_p.E171D	p.E410D	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	7	1459	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	410					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.1230G>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432322	0.25813	.	.	ENSG00000144504	ENST00000373318;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002	T;T;T;T;T;T;T;T;T;T	0.58797	2.68;0.34;1.98;0.34;4.19;2.21;0.31;1.87;1.87;2.06	2.69	-4.28	0.03732	Ankyrin repeat-containing domain (1);	0.821330	0.10129	N	0.712362	T	0.31040	0.0784	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.15141	0.002;0.001;0.012;0.001;0.009;0.002	B;B;B;B;B;B	0.16289	0.003;0.004;0.005;0.001;0.015;0.003	T	0.18272	-1.0342	10	0.19147	T	0.46	.	5.8784	0.18842	0.4726:0.2153:0.3121:0.0	.	410;222;180;269;269;410	Q4ZFV3;F5H558;Q9P2S6-4;Q6GPI0;Q9P2S6-2;Q9P2S6	.;.;.;.;.;ANKY1_HUMAN	D	269;410;269;410;180;348;499;222;269;180	ENSP00000362415:E269D;ENSP00000272972:E410D;ENSP00000355097:E269D;ENSP00000375847:E410D;ENSP00000362417:E180D;ENSP00000383968:E348D;ENSP00000385887:E499D;ENSP00000444707:E222D;ENSP00000385635:E269D;ENSP00000385145:E180D	ENSP00000272972:E410D	E	-	3	2	ANKMY1	241112310	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.407000	0.01043	-1.035000	0.03291	-0.500000	0.04577	GAG		0.642	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		15	44	1	0	4.93089e-13	0.00245	6.87585e-13	15	44				
CAPN10	11132	broad.mit.edu	37	2	241530258	241530258	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:241530258G>T	ENST00000391984.2	+	3	496	c.300G>T	c.(298-300)tgG>tgT	p.W100C	CAPN10_ENST00000391982.2_Missense_Mutation_p.W100C|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.W100C|CAPN10_ENST00000354082.4_Missense_Mutation_p.W100C|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	100	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.W100C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGCCGAGCTGGGCCGACCAGG	0.637																																							uc002vzk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(1)	6						c.(298-300)TGG>TGT		calpain 10 isoform a							58.0	56.0	57.0					2																	241530258		2203	4300	6503	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241530258G>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.300G>T	2.37:g.241530258G>T	ENSP00000375844:p.Trp100Cys					CAPN10_uc010zoh.1_Missense_Mutation_p.W100C|CAPN10_uc002vzl.1_Missense_Mutation_p.W100C|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_5'UTR|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	p.W100C	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	3	484	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	100			Calpain catalytic.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.300G>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894779	0.72639	.	.	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000354082	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	4.79	4.79	0.61399	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.94166	0.7419	10	0.59425	D	0.04	.	15.3204	0.74117	0.0:0.0:1.0:0.0	.	100;100;100	B7Z6G3;Q9HC96-3;Q9HC96	.;.;CAN10_HUMAN	C	100	ENSP00000375844:W100C;ENSP00000375842:W100C;ENSP00000384422:W100C;ENSP00000270362:W100C	ENSP00000270361:W100C	W	+	3	0	CAPN10	241178931	1.000000	0.71417	0.989000	0.46669	0.852000	0.48524	8.819000	0.91997	2.200000	0.70718	0.655000	0.94253	TGG		0.637	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		9	27	1	0	0.000274275	0.004482	0.000302385	9	27				
PASK	23178	broad.mit.edu	37	2	242066563	242066563	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:242066563C>A	ENST00000405260.1	-	10	2465	c.1767G>T	c.(1765-1767)ggG>ggT	p.G589G	PASK_ENST00000358649.4_Silent_p.G589G|PASK_ENST00000403638.3_Silent_p.G589G|PASK_ENST00000539818.1_Silent_p.G373G|PASK_ENST00000544142.1_Silent_p.G403G|PASK_ENST00000234040.4_Silent_p.G589G	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	589					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.G589G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCACGGCAGCCCCAGCCCAAA	0.647																																							uc002wao.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(1)|skin(1)	6						c.(1765-1767)GGG>GGT		PAS domain containing serine/threonine kinase							33.0	38.0	37.0					2																	242066563		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066563C>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1767G>T	2.37:g.242066563C>A						PASK_uc010zol.1_Silent_p.G403G|PASK_uc010zom.1_Silent_p.G554G|PASK_uc010fzl.1_Silent_p.G589G|PASK_uc010zon.1_Silent_p.G370G|PASK_uc002wap.2_Silent_p.G132G|PASK_uc002waq.2_Silent_p.G589G	p.G589G	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	1859	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	589					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.1767G>T	CCDS2545.1																																																																																				0.647	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		26	38	1	0	1.64293e-13	0.00333	2.31672e-13	26	38				
TGM3	7053	broad.mit.edu	37	20	2321104	2321104	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:2321104G>T	ENST00000381458.5	+	13	2022	c.1959G>T	c.(1957-1959)gaG>gaT	p.E653D		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	653					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.E653D(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGCCCAAGGAGGGGTCCCGGG	0.612																																							uc002wfx.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(1957-1959)GAG>GAT		transglutaminase 3 precursor	L-Glutamine(DB00130)						102.0	95.0	97.0					20																	2321104		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2321104G>T	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1959G>T	20.37:g.2321104G>T	ENSP00000370867:p.Glu653Asp						p.E653D	NM_003245	NP_003236	Q08188	TGM3_HUMAN			13	2056	+			653					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.1959G>T	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352628	0.41700	.	.	ENSG00000125780	ENST00000381458	T	0.70869	-0.52	4.38	3.43	0.39272	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.268407	0.36338	N	0.002650	T	0.61375	0.2342	L	0.48877	1.53	0.30763	N	0.743916	B	0.18166	0.026	B	0.23419	0.046	T	0.61505	-0.7049	10	0.45353	T	0.12	0.208	8.4008	0.32586	0.1081:0.0:0.8919:0.0	.	653	Q08188	TGM3_HUMAN	D	653	ENSP00000370867:E653D	ENSP00000370867:E653D	E	+	3	2	TGM3	2269104	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.724000	0.47285	1.195000	0.43115	-0.140000	0.14226	GAG		0.612	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		24	113	1	0	2.2171e-23	0.009535	3.70172e-23	24	113				
PROKR2	128674	broad.mit.edu	37	20	5283097	5283097	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:5283097C>A	ENST00000217270.3	-	2	743	c.744G>T	c.(742-744)cgG>cgT	p.R248R	PROKR2_ENST00000546004.1_Silent_p.R248R	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	248					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R248R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ACCAGAGCTCCCGGGAGATCC	0.577										HNSCC(71;0.22)																													uc010zqw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(742-744)CGG>CGT		prokineticin receptor 2							72.0	68.0	69.0					20																	5283097		2203	4300	6503	SO:0001819	synonymous_variant	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283097C>A	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.744G>T	20.37:g.5283097C>A		HNSCC(71;0.22)				PROKR2_uc010zqx.1_Silent_p.R248R|PROKR2_uc010zqy.1_Silent_p.R248R	p.R248R	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			2	744	-			248			Cytoplasmic (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	c.744G>T	CCDS13089.1																																																																																				0.577	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		22	34	1	0	9.95505e-16	0.002299	1.46409e-15	22	34				
PLCB4	5332	broad.mit.edu	37	20	9459601	9459601	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:9459601G>T	ENST00000378493.1	+	35	3508	c.3493G>T	c.(3493-3495)Gcc>Tcc	p.A1165S	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.S1177I|PLCB4_ENST00000278655.4_Missense_Mutation_p.A1165S|PLCB4_ENST00000378473.3_Missense_Mutation_p.A1177S|PLCB4_ENST00000334005.3_Missense_Mutation_p.S1177I|PLCB4_ENST00000414679.2_Missense_Mutation_p.A1177S			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1165					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S1177I(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAATTGGAAGCCGAGATGGA	0.448																																							uc002wnf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(3493-3495)GCC>TCC		phospholipase C beta 4 isoform b							162.0	134.0	143.0					20																	9459601		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9459601G>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3493G>T	20.37:g.9459601G>T	ENSP00000367754:p.Ala1165Ser					PLCB4_uc010gbx.2_Missense_Mutation_p.A1177S|PLCB4_uc002wne.2_Missense_Mutation_p.S1177I|PLCB4_uc002wnh.2_Missense_Mutation_p.A1012S	p.A1165S	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			37	3629	+			1165					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.3493G>T	CCDS13105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.94|14.94	2.685152|2.685152	0.47991|0.47991	.|.	.|.	ENSG00000101333|ENSG00000101333	ENST00000378473;ENST00000278655;ENST00000378493;ENST00000414679|ENST00000334005;ENST00000378501	T;T;T;T|T;T	0.21031|0.21031	2.22;2.22;2.22;2.03|2.03;2.03	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.27134|0.27134	0.0665|0.0665	.|.	.|.	.|.	0.45490|0.45490	D|D	0.998452|0.998452	B;B;B|D	0.32918|0.54207	0.04;0.009;0.39|0.965	B;B;B|P	0.26094|0.48089	0.013;0.01;0.066|0.566	T|T	0.01124|0.01124	-1.1444|-1.1444	8|9	0.22109|0.18710	T|T	0.4|0.47	.|.	19.5796|19.5796	0.95461|0.95461	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1177;1012;1165|1177	E2QRH8;Q15147-2;Q15147|Q15147-4	.;.;PLCB4_HUMAN|.	S|I	1177;1165;1165;1013|1177	ENSP00000367734:A1177S;ENSP00000278655:A1165S;ENSP00000367754:A1165S;ENSP00000390616:A1013S|ENSP00000334105:S1177I;ENSP00000367762:S1177I	ENSP00000278655:A1165S|ENSP00000334105:S1177I	A|S	+|+	1|2	0|0	PLCB4|PLCB4	9407601|9407601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.272000|8.272000	0.89885|0.89885	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			8	24	1	0	7.48243e-07	0.006214	8.88686e-07	8	24				
PAK7	57144	broad.mit.edu	37	20	9525048	9525048	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:9525048C>A	ENST00000378429.3	-	9	2383	c.1837G>T	c.(1837-1839)Gag>Tag	p.E613*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.E613*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.E613*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	613	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E613*(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAAATCACCTCAGGGGCCATC	0.502																																							uc002wnl.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1837-1839)GAG>TAG		p21-activated kinase 7							122.0	112.0	115.0					20																	9525048		2203	4300	6503	SO:0001587	stop_gained	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9525048C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1837G>T	20.37:g.9525048C>A	ENSP00000367686:p.Glu613*					PAK7_uc002wnk.2_Nonsense_Mutation_p.E613*|PAK7_uc002wnj.2_Nonsense_Mutation_p.E613*|PAK7_uc010gby.1_Intron	p.E613*	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		9	2382	-			613			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Nonsense_Mutation	SNP	ENST00000378429.3	37	c.1837G>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	43	9.934173	0.99299	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	613	.	.	E	-	1	0	PAK7	9473048	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.768000	0.85345	2.836000	0.97738	0.655000	0.94253	GAG		0.502	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			75	67	1	0	1.356e-25	0.00361	2.31011e-25	75	67				
NINL	22981	broad.mit.edu	37	20	25485607	25485607	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:25485607C>A	ENST00000278886.6	-	6	698	c.625G>T	c.(625-627)Ggg>Tgg	p.G209W	NINL_ENST00000422516.1_Missense_Mutation_p.G209W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	209	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.G209W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGCCCACCCCCAGCTCTTCC	0.657																																							uc002wux.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(625-627)GGG>TGG		ninein-like							36.0	40.0	39.0					20																	25485607		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25485607C>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.625G>T	20.37:g.25485607C>A	ENSP00000278886:p.Gly209Trp					NINL_uc010gdn.1_Missense_Mutation_p.G209W|NINL_uc010gdo.1_Missense_Mutation_p.G49W|NINL_uc010ztf.1_Missense_Mutation_p.G225W	p.G209W	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			6	699	-			209			EF-hand 3.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.625G>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156990	0.57259	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.21932	1.98;1.98	5.18	5.18	0.71444	EF-hand-like domain (1);	0.062783	0.64402	D	0.000007	T	0.37679	0.1012	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12811	-1.0533	10	0.87932	D	0	-33.9322	17.6222	0.88085	0.0:1.0:0.0:0.0	.	209;209	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	W	209	ENSP00000278886:G209W;ENSP00000410431:G209W	ENSP00000278886:G209W	G	-	1	0	NINL	25433607	0.966000	0.33281	0.673000	0.29887	0.257000	0.26127	5.121000	0.64691	2.688000	0.91661	0.655000	0.94253	GGG		0.657	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		12	35	1	0	7.03913e-09	0.001368	8.8341e-09	12	35				
DEFB115	245929	broad.mit.edu	37	20	29845536	29845536	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:29845536G>T	ENST00000400552.1	+	1	70	c.70G>T	c.(70-72)Gtg>Ttg	p.V24L		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	24					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.V24L(1)		kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			AGTTGTCCTTGTGGTCCTGGC	0.512																																							uc002wvp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(70-72)GTG>TTG		beta-defensin 115 precursor							108.0	99.0	102.0					20																	29845536		1944	4150	6094	SO:0001583	missense	245929				defense response to bacterium	extracellular region		g.chr20:29845536G>T	DQ012019	CCDS42859.1	20q11.1	2008-07-17			ENSG00000215547	ENSG00000215547		"""Defensins, beta"""	18096	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037730		Approved	DEFB-15	uc002wvp.1	Q30KQ5	OTTHUMG00000159284	ENST00000400552.1:c.70G>T	20.37:g.29845536G>T	ENSP00000383398:p.Val24Leu						p.V24L	NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)		1	70	+			24						Missense_Mutation	SNP	ENST00000400552.1	37	c.70G>T	CCDS42859.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783578	0.49891	.	.	ENSG00000215547	ENST00000400552	T	0.29917	1.55	3.46	1.5	0.22942	.	.	.	.	.	T	0.43166	0.1235	.	.	.	0.09310	N	1	D	0.60160	0.987	P	0.60012	0.867	T	0.18935	-1.0321	8	0.87932	D	0	.	5.7508	0.18146	0.2471:0.0:0.7529:0.0	.	24	Q30KQ5	DB115_HUMAN	L	24	ENSP00000383398:V24L	ENSP00000383398:V24L	V	+	1	0	DEFB115	29309197	0.976000	0.34144	0.007000	0.13788	0.720000	0.41350	1.401000	0.34589	0.470000	0.27294	0.603000	0.83216	GTG		0.512	DEFB115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354402.1	NM_001037730		37	34	1	0	1.30015e-28	0.004878	2.27677e-28	37	34				
UQCC1	55245	broad.mit.edu	37	20	33999771	33999771	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:33999771C>A	ENST00000374385.5	-	0	173				UQCC1_ENST00000540457.1_De_novo_Start_OutOfFrame|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000542501.1_De_novo_Start_InFrame|UQCC1_ENST00000407996.2_De_novo_Start_InFrame|UQCC1_ENST00000349714.5_5'Flank|UQCC1_ENST00000374380.2_De_novo_Start_InFrame|UQCC1_ENST00000374377.5_De_novo_Start_OutOfFrame|UQCC1_ENST00000359226.2_De_novo_Start_InFrame|UQCC1_ENST00000397554.1_De_novo_Start_InFrame|UQCC1_ENST00000374384.2_De_novo_Start_InFrame	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1							cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											CGCCATGTTCCTCAATAACCA	0.567																																							uc002xcd.2		NA																	0				breast(1)	1						c.(-6--2)GAGGA>GATGA		basic FGF-repressed Zic binding protein isoform							192.0	159.0	171.0					20																	33999771		2203	4300	6503			55245					cytoplasmic membrane-bounded vesicle		g.chr20:33999771C>A	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335		20.37:g.33999771C>A						UQCC_uc010zuz.1_Translation_Start_Site|UQCC_uc010zva.1_Translation_Start_Site|UQCC_uc002xce.2_Translation_Start_Site|UQCC_uc002xcg.2_Translation_Start_Site|UQCC_uc010gfb.2_Translation_Start_Site|UQCC_uc010zvb.1_Translation_Start_Site|UQCC_uc002xcf.2_Translation_Start_Site|GDF5_uc010gfc.1_Intron|UQCC_uc010gfd.1_Translation_Start_Site		NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	63	-								B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Translation_Start_Site	SNP	ENST00000374385.5	37	c.-4G>T	CCDS13252.1																																																																																				0.567	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244		38	104	1	0	1.00001e-27	0.009718	1.73904e-27	38	104				
SOGA1	140710	broad.mit.edu	37	20	35444016	35444016	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:35444016T>G	ENST00000357779.3	-	5	1441	c.1115A>C	c.(1114-1116)cAg>cCg	p.Q372P	SOGA1_ENST00000456801.2_Missense_Mutation_p.Q213P|SOGA1_ENST00000237536.4_Missense_Mutation_p.Q610P|SOGA1_ENST00000279034.6_Missense_Mutation_p.Q372P			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	372					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.Q610P(3)|p.Q372P(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCGCGTACTCTGGCAGGAGGC	0.662																																							uc002xgd.1		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(1114-1116)CAG>CCG		hypothetical protein LOC140710 isoform 2							12.0	13.0	13.0					20																	35444016		2151	4254	6405	SO:0001583	missense	140710							g.chr20:35444016T>G	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1115A>C	20.37:g.35444016T>G	ENSP00000350424:p.Gln372Pro					C20orf117_uc002xge.1_RNA	p.Q372P	NM_199181	NP_954650	O94964	K0889_HUMAN			5	1442	-		Myeloproliferative disorder(115;0.00874)	372					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.1115A>C		.	.	.	.	.	.	.	.	.	.	T	13.34	2.206960	0.39003	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	4.59	4.59	0.56863	.	0.221178	0.40064	N	0.001190	T	0.16041	0.0386	N	0.24115	0.695	0.37696	D	0.92402	B	0.28933	0.228	B	0.39562	0.303	T	0.21861	-1.0233	10	0.30854	T	0.27	-18.0811	13.1005	0.59218	0.0:0.0:0.0:1.0	.	372	O94964-4	.	P	610;372;213;372	ENSP00000237536:Q610P;ENSP00000279034:Q372P;ENSP00000413886:Q213P;ENSP00000350424:Q372P	ENSP00000237536:Q610P	Q	-	2	0	KIAA0889	34877430	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.192000	0.65115	1.926000	0.55796	0.459000	0.35465	CAG		0.662	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		3	14	0	0	0	0.004672	0	3	14				
SLC12A5	57468	broad.mit.edu	37	20	44684841	44684841	+	Missense_Mutation	SNP	C	C	T	rs199934904		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:44684841C>T	ENST00000454036.2	+	22	2958	c.2909C>T	c.(2908-2910)gCc>gTc	p.A970V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A947V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	970					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.A947V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGAATCCAGCCAACACGCGG	0.582																																							uc010zxl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2908-2910)GCC>GTC		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						86.0	75.0	78.0					20																	44684841		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44684841C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2909C>T	20.37:g.44684841C>T	ENSP00000387694:p.Ala970Val					SLC12A5_uc002xrb.2_Missense_Mutation_p.A947V	p.A970V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			22	2985	+		Myeloproliferative disorder(115;0.0122)	970			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2909C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178725	0.38511	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.87650	-2.28;-2.28	4.8	4.8	0.61643	.	0.215507	0.38381	N	0.001710	D	0.84606	0.5509	L	0.47716	1.5	0.80722	D	1	B;B	0.33413	0.411;0.404	B;B	0.35688	0.076;0.208	D	0.83788	0.0229	10	0.39692	T	0.17	.	17.033	0.86466	0.0:1.0:0.0:0.0	.	970;947	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	970;947	ENSP00000387694:A970V;ENSP00000243964:A947V	ENSP00000243964:A947V	A	+	2	0	SLC12A5	44118248	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	4.530000	0.60595	2.503000	0.84419	0.561000	0.74099	GCC		0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			15	24	0	0	0	0.003163	0	15	24				
KCNB1	3745	broad.mit.edu	37	20	47989700	47989700	+	Missense_Mutation	SNP	G	G	T	rs533203218		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:47989700G>T	ENST00000371741.4	-	2	2563	c.2397C>A	c.(2395-2397)agC>agA	p.S799R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	799					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.S799R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GTAAAGGGGAGCTTTCAAAGT	0.522																																							uc002xur.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(2395-2397)AGC>AGA		potassium voltage-gated channel, Shab-related							182.0	192.0	189.0					20																	47989700		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989700G>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2397C>A	20.37:g.47989700G>T	ENSP00000360806:p.Ser799Arg					KCNB1_uc002xus.1_Missense_Mutation_p.S799R	p.S799R	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2561	-			799			Cytoplasmic (Potential).		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.2397C>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	7.828	0.719169	0.15372	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96365	-3.99	5.56	-0.811	0.10857	.	1.037840	0.07598	N	0.923136	D	0.92293	0.7555	L	0.29908	0.895	0.29836	N	0.829623	B	0.02656	0.0	B	0.04013	0.001	D	0.84826	0.0799	10	0.72032	D	0.01	.	9.9908	0.41870	0.6152:0.0:0.3848:0.0	.	799	Q14721	KCNB1_HUMAN	R	799;754	ENSP00000360806:S799R	ENSP00000360806:S799R	S	-	3	2	KCNB1	47423107	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	0.726000	0.25984	-0.015000	0.14150	-0.140000	0.14226	AGC		0.522	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		103	245	1	0	2.32112e-61	0.00361	4.51628e-61	103	245				
B4GALT5	9334	broad.mit.edu	37	20	48263586	48263586	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:48263586T>A	ENST00000371711.4	-	3	467	c.280A>T	c.(280-282)Acc>Tcc	p.T94S		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	94					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.T94S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TGCAGGAAGGTTTCACTGTGG	0.443																																							uc002xuu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(280-282)ACC>TCC		UDP-Gal:betaGlcNAc beta 1,4-							199.0	187.0	191.0					20																	48263586		2203	4300	6503	SO:0001583	missense	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48263586T>A	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.280A>T	20.37:g.48263586T>A	ENSP00000360776:p.Thr94Ser						p.T94S	NM_004776	NP_004767	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		3	474	-			94			Lumenal (Potential).		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	c.280A>T	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	8.722	0.914648	0.17907	.	.	ENSG00000158470	ENST00000371711	T	0.44482	0.92	5.66	2.04	0.26737	.	0.286485	0.39341	N	0.001383	T	0.14141	0.0342	N	0.03324	-0.35	0.19300	N	0.999973	B	0.06786	0.001	B	0.06405	0.002	T	0.30937	-0.9961	10	0.06099	T	0.92	-13.0969	5.7533	0.18158	0.3776:0.0675:0.0:0.5548	.	94	O43286	B4GT5_HUMAN	S	94	ENSP00000360776:T94S	ENSP00000360776:T94S	T	-	1	0	B4GALT5	47696993	0.600000	0.26899	0.708000	0.30435	0.608000	0.37181	0.138000	0.16016	0.130000	0.18549	0.528000	0.53228	ACC		0.443	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		31	157	0	0	0	0.012213	0	31	157				
ADNP	23394	broad.mit.edu	37	20	49510039	49510039	+	Silent	SNP	C	C	T	rs139951165		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:49510039C>T	ENST00000396029.3	-	5	1779	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S	ADNP_ENST00000371602.4_Silent_p.S404S|ADNP_ENST00000349014.3_Silent_p.S404S|ADNP_ENST00000396032.3_Silent_p.S404S	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	404					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S404S(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTAACTGGCCCGATGAGAGAG	0.562																																							uc002xvt.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1210-1212)TCG>TCA		activity-dependent neuroprotector							105.0	108.0	107.0					20																	49510039		2203	4300	6503	SO:0001819	synonymous_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49510039C>T	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1212G>A	20.37:g.49510039C>T						ADNP_uc002xvu.1_Silent_p.S404S	p.S404S	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN			5	1557	-			404					E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	c.1212G>A	CCDS13433.1																																																																																				0.562	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		8	119	0	0	0	0.00308	0	8	119				
NFATC2	4773	broad.mit.edu	37	20	50139662	50139662	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:50139662G>T	ENST00000396009.3	-	2	1337	c.1118C>A	c.(1117-1119)cCc>cAc	p.P373H	NFATC2_ENST00000610033.1_Missense_Mutation_p.P154H|NFATC2_ENST00000609507.1_Missense_Mutation_p.P154H|NFATC2_ENST00000609943.1_Missense_Mutation_p.P353H|NFATC2_ENST00000371564.3_Missense_Mutation_p.P373H|NFATC2_ENST00000414705.1_Missense_Mutation_p.P353H	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	373					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P373H(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGGCCAAGTGGGCGGAACCAG	0.577																																							uc002xwd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1117-1119)CCC>CAC		nuclear factor of activated T-cells,							81.0	95.0	90.0					20																	50139662		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139662G>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1118C>A	20.37:g.50139662G>T	ENSP00000379330:p.Pro373His					NFATC2_uc002xwc.2_Missense_Mutation_p.P373H|NFATC2_uc010zyv.1_Missense_Mutation_p.P154H|NFATC2_uc010zyw.1_Missense_Mutation_p.P154H|NFATC2_uc010zyx.1_Missense_Mutation_p.P353H|NFATC2_uc010zyy.1_Missense_Mutation_p.P154H|NFATC2_uc010zyz.1_Missense_Mutation_p.P154H|NFATC2_uc002xwe.2_Missense_Mutation_p.P353H	p.P373H	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	1338	-	Hepatocellular(150;0.248)		373					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.1118C>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591905	0.28357	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.14391	2.51;2.51;2.51	5.8	5.8	0.92144	.	0.174695	0.52532	D	0.000077	T	0.36580	0.0972	L	0.54323	1.7	0.33757	D	0.621292	D;D;D;D	0.89917	0.997;1.0;0.997;0.997	D;D;D;D	0.91635	0.922;0.999;0.922;0.922	T	0.31420	-0.9944	10	0.72032	D	0.01	-15.3595	20.055	0.97649	0.0:0.0:1.0:0.0	.	353;353;373;373	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	H	373;373;154;353	ENSP00000360619:P373H;ENSP00000379330:P373H;ENSP00000396471:P353H	ENSP00000360619:P373H	P	-	2	0	NFATC2	49573069	1.000000	0.71417	0.111000	0.21465	0.845000	0.48019	4.185000	0.58330	2.743000	0.94032	0.455000	0.32223	CCC		0.577	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		34	200	1	0	1.57351e-24	0.003755	2.65663e-24	34	200				
CTCFL	140690	broad.mit.edu	37	20	56098871	56098871	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:56098871G>T	ENST00000608263.1	-	1	1052	c.391C>A	c.(391-393)Cag>Aag	p.Q131K	CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000429804.3_Missense_Mutation_p.Q131K|CTCFL_ENST00000422869.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000481655.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.Q131K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000609232.1_Missense_Mutation_p.Q131K|CTCFL_ENST00000608440.1_Missense_Mutation_p.Q131K|CTCFL_ENST00000423479.3_Missense_Mutation_p.Q131K|CTCFL_ENST00000608158.1_Missense_Mutation_p.Q131K|CTCFL_ENST00000432255.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000608425.1_Missense_Mutation_p.Q131K|CTCFL_ENST00000371196.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000608903.1_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	131					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.Q131K(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACACACTGCTGCAGGCTCTGC	0.592																																							uc010gix.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(391-393)CAG>AAG		CCCTC-binding factor-like protein							85.0	85.0	85.0					20																	56098871		2203	4299	6502	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56098871G>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.391C>A	20.37:g.56098871G>T	ENSP00000476783:p.Gln131Lys					CTCFL_uc010giw.1_Missense_Mutation_p.Q131K|CTCFL_uc002xym.2_Missense_Mutation_p.Q131K|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.Q131K|CTCFL_uc010gjb.1_Missense_Mutation_p.Q131K|CTCFL_uc010gjc.1_Missense_Mutation_p.Q131K|CTCFL_uc010gjd.1_Missense_Mutation_p.Q131K|CTCFL_uc010gje.2_Missense_Mutation_p.Q131K|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.Q131K|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.Q131K|CTCFL_uc010gjk.1_Missense_Mutation_p.Q131K|CTCFL_uc010gjl.1_Missense_Mutation_p.Q131K	p.Q131K	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	1053	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		131					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.391C>A	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014175	0.35511	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	T;T;T;T;T;T;T;T;T	0.10382	2.88;2.92;2.92;3.05;2.96;3.23;2.95;3.52;2.96	4.76	3.81	0.43845	.	0.336711	0.21457	N	0.074223	T	0.09468	0.0233	L	0.50333	1.59	0.09310	N	1	B;P;B;P;B;B;B;B	0.43231	0.276;0.462;0.329;0.801;0.16;0.146;0.16;0.063	B;B;B;B;B;B;B;B	0.38500	0.045;0.091;0.038;0.275;0.03;0.057;0.026;0.026	T	0.20773	-1.0265	10	0.28530	T	0.3	-10.6561	6.5511	0.22433	0.0995:0.1836:0.7169:0.0	.	131;131;131;131;131;131;131;131	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	K	131	ENSP00000415579:Q131K;ENSP00000243914:Q131K;ENSP00000360239:Q131K;ENSP00000415329:Q131K;ENSP00000392034:Q131K;ENSP00000413713:Q131K;ENSP00000403369:Q131K;ENSP00000409344:Q131K;ENSP00000399061:Q131K	ENSP00000243914:Q131K	Q	-	1	0	CTCFL	55532277	0.216000	0.23585	0.337000	0.25536	0.036000	0.12997	3.135000	0.50546	0.974000	0.38366	0.650000	0.86243	CAG		0.592	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		17	119	1	0	5.03518e-11	0.007413	6.78264e-11	17	119				
ZNF831	128611	broad.mit.edu	37	20	57829372	57829372	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:57829372G>C	ENST00000371030.2	+	5	4608	c.4608G>C	c.(4606-4608)gaG>gaC	p.E1536D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1536							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E1536D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCACAGAAGAGGGCAGAGCAC	0.493																																							uc002yan.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(4606-4608)GAG>GAC		zinc finger protein 831							39.0	43.0	41.0					20																	57829372		2059	4213	6272	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829372G>C	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4608G>C	20.37:g.57829372G>C	ENSP00000360069:p.Glu1536Asp						p.E1536D	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			5	4608	+	all_lung(29;0.0085)		1536					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4608G>C	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528528	0.44969	.	.	ENSG00000124203	ENST00000371030	T	0.04809	3.55	5.54	-3.65	0.04502	.	0.635159	0.14429	N	0.320120	T	0.03053	0.0090	L	0.42245	1.32	0.09310	N	1	B	0.26147	0.143	B	0.23275	0.045	T	0.41124	-0.9526	10	0.30854	T	0.27	-9.3956	0.4336	0.00475	0.3761:0.135:0.2148:0.274	.	1536	Q5JPB2	ZN831_HUMAN	D	1536	ENSP00000360069:E1536D	ENSP00000360069:E1536D	E	+	3	2	ZNF831	57262767	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.216000	0.09266	-0.450000	0.07107	-0.766000	0.03442	GAG		0.493	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		11	12	0	0	0	0.008291	0	11	12				
MTG2	26164	broad.mit.edu	37	20	60776117	60776117	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr20:60776117A>T	ENST00000370823.3	+	7	1223	c.1205A>T	c.(1204-1206)cAg>cTg	p.Q402L	MTG2_ENST00000436421.2_Missense_Mutation_p.Q244L|MTG2_ENST00000536470.1_Missense_Mutation_p.Q174L	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	402	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.Q402L(1)									CAGGGCCGCCAGCCGCTCAGG	0.632																																							uc002yce.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1204-1206)CAG>CTG		GTP binding protein 5							12.0	14.0	13.0					20																	60776117		2102	4165	6267	SO:0001583	missense	26164				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding	g.chr20:60776117A>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.1205A>T	20.37:g.60776117A>T	ENSP00000359859:p.Gln402Leu					GTPBP5_uc011aab.1_Missense_Mutation_p.Q174L|GTPBP5_uc011aac.1_Missense_Mutation_p.Q174L|GTPBP5_uc011aad.1_Missense_Mutation_p.Q174L|GTPBP5_uc011aae.1_Missense_Mutation_p.Q174L|GTPBP5_uc011aaf.1_Missense_Mutation_p.Q244L	p.Q402L	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.5e-08)		7	1243	+	Breast(26;3.52e-09)		402			Localized in the mitocondria.|Not localized in the mitocondria.		A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Missense_Mutation	SNP	ENST00000370823.3	37	c.1205A>T	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.258337	0.23051	.	.	ENSG00000101181	ENST00000536470;ENST00000436421;ENST00000370823	T;T;T	0.29655	1.56;1.94;2.75	5.34	-0.831	0.10789	.	1.384360	0.04247	N	0.338027	T	0.22282	0.0537	L	0.36672	1.1	0.09310	N	0.999995	B;B	0.21520	0.057;0.0	B;B	0.15870	0.014;0.0	T	0.29610	-1.0006	10	0.72032	D	0.01	-2.7149	2.0586	0.03587	0.3786:0.1348:0.3552:0.1314	.	244;402	E7EU10;Q9H4K7	.;GTPB5_HUMAN	L	174;244;402	ENSP00000445056:Q174L;ENSP00000392267:Q244L;ENSP00000359859:Q402L	ENSP00000359859:Q402L	Q	+	2	0	GTPBP5	60209512	0.968000	0.33430	0.297000	0.24988	0.080000	0.17528	2.115000	0.41921	-0.194000	0.10399	0.454000	0.30748	CAG		0.632	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		4	14	0	0	0	0.001168	0	4	14				
NCAM2	4685	broad.mit.edu	37	21	22838976	22838976	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:22838976G>T	ENST00000400546.1	+	13	1953	c.1704G>T	c.(1702-1704)agG>agT	p.R568S	NCAM2_ENST00000284894.7_Missense_Mutation_p.R426S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	568	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R568S(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATGAAATCAGGGTTGCAGCTG	0.299																																							uc002yld.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1702-1704)AGG>AGT		neural cell adhesion molecule 2 precursor							41.0	37.0	38.0					21																	22838976		1818	4067	5885	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22838976G>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1704G>T	21.37:g.22838976G>T	ENSP00000383392:p.Arg568Ser					NCAM2_uc011acb.1_Missense_Mutation_p.R426S	p.R568S	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	13	1953	+		Lung NSC(9;0.195)	568			Fibronectin type-III 1.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1704G>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586286	0.66105	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.59083	0.29;0.29	4.64	0.772	0.18510	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.095092	0.64402	D	0.000001	T	0.65678	0.2714	M	0.85777	2.775	0.80722	D	1	P;P	0.49961	0.93;0.93	P;P	0.50791	0.65;0.53	T	0.66436	-0.5924	10	0.87932	D	0	-15.6487	8.4456	0.32841	0.5126:0.0:0.4874:0.0	.	426;568	B7Z5K2;O15394	.;NCAM2_HUMAN	S	568;426	ENSP00000383392:R568S;ENSP00000284894:R426S	ENSP00000284894:R426S	R	+	3	2	NCAM2	21760847	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.421000	0.34815	-0.066000	0.12998	-0.229000	0.12294	AGG		0.299	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		4	10	1	0	0.00909568	0.009096	0.0095258	4	10				
ADAMTS5	11096	broad.mit.edu	37	21	28306969	28306969	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:28306969C>A	ENST00000284987.5	-	4	1626	c.1505G>T	c.(1504-1506)gGg>gTg	p.G502V	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	502	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)	p.G502V(1)		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						GTACTCAGGCCCGAATGTCAG	0.592																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1504-1506)GGG>GTG		ADAM metallopeptidase with thrombospondin type 1							106.0	85.0	92.0					21																	28306969		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28306969C>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.1505G>T	21.37:g.28306969C>A	ENSP00000284987:p.Gly502Val						p.G502V	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			4	2234	-			502			Disintegrin.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1505G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794318	0.90453	.	.	ENSG00000154736	ENST00000284987	T	0.12361	2.69	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57573	-0.7788	10	0.87932	D	0	.	19.4665	0.94945	0.0:1.0:0.0:0.0	.	502	Q9UNA0	ATS5_HUMAN	V	502	ENSP00000284987:G502V	ENSP00000284987:G502V	G	-	2	0	ADAMTS5	27228840	1.000000	0.71417	0.910000	0.35882	0.833000	0.47200	7.433000	0.80362	2.624000	0.88883	0.557000	0.71058	GGG		0.592	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			4	22	1	0	0.00909568	0.009096	0.0095258	4	22				
LTN1	26046	broad.mit.edu	37	21	30343757	30343757	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:30343757C>A	ENST00000361371.5	-	7	899	c.820G>T	c.(820-822)Gct>Tct	p.A274S	LTN1_ENST00000389194.2_Missense_Mutation_p.A320S|LTN1_ENST00000389195.2_Missense_Mutation_p.A320S			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	274					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A274S(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCAAAATAAGCTGAGCGAATC	0.348																																							uc002ymr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(958-960)GCT>TCT		zinc finger protein 294							152.0	148.0	150.0					21																	30343757		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30343757C>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.820G>T	21.37:g.30343757C>A	ENSP00000354977:p.Ala274Ser					RNF160_uc010gll.1_RNA	p.A320S	NM_015565	NP_056380	O94822	LTN1_HUMAN			7	971	-			274					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.958G>T		.	.	.	.	.	.	.	.	.	.	C	23.1	4.379351	0.82682	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.69926	3.57;3.57;-0.44	4.66	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.063087	0.64402	D	0.000006	T	0.78155	0.4239	L	0.59912	1.85	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.73701	-0.3900	10	0.23302	T	0.38	.	18.1081	0.89526	0.0:1.0:0.0:0.0	.	274	O94822	LTN1_HUMAN	S	320;274;276;320	ENSP00000373846:A320S;ENSP00000354977:A274S;ENSP00000373847:A320S	ENSP00000354977:A274S	A	-	1	0	LTN1	29265628	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.126000	0.77201	2.579000	0.87056	0.650000	0.86243	GCT		0.348	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		10	80	1	0	3.07112e-06	0.010729	3.56325e-06	10	80				
TIAM1	7074	broad.mit.edu	37	21	32537342	32537342	+	Silent	SNP	G	G	A	rs557120271		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:32537342G>A	ENST00000286827.3	-	17	3399	c.2928C>T	c.(2926-2928)acC>acT	p.T976T	TIAM1_ENST00000541036.1_Silent_p.T916T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	976					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T976T(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTCTGGAGCGGTCTCAGCAC	0.502																																							uc002yow.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(2926-2928)ACC>ACT		T-cell lymphoma invasion and metastasis 1							78.0	74.0	75.0					21																	32537342		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32537342G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2928C>T	21.37:g.32537342G>A						TIAM1_uc011adk.1_Silent_p.T976T|TIAM1_uc011adl.1_Silent_p.T916T	p.T976T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			17	3400	-			976					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.2928C>T	CCDS13609.1																																																																																				0.502	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		5	34	0	0	0	0.000602	0	5	34				
SIM2	6493	broad.mit.edu	37	21	38114105	38114105	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:38114105T>C	ENST00000290399.6	+	8	1551	c.938T>C	c.(937-939)gTg>gCg	p.V313A	SIM2_ENST00000430056.3_Missense_Mutation_p.V313A	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	313	PAC.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.V313A(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TACGCCACCGTGGTGCACAAC	0.572																																							uc002yvr.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(937-939)GTG>GCG		single-minded homolog 2 long isoform							54.0	43.0	47.0					21																	38114105		2202	4296	6498	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38114105T>C		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.938T>C	21.37:g.38114105T>C	ENSP00000290399:p.Val313Ala					SIM2_uc002yvq.2_Missense_Mutation_p.V313A	p.V313A	NM_005069	NP_005060	Q14190	SIM2_HUMAN			8	994	+			313			PAC.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.938T>C	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133708	0.77662	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.16897	2.31;2.31	5.15	5.15	0.70609	PAS fold-3 (1);	0.110197	0.64402	D	0.000013	T	0.25382	0.0617	L	0.43701	1.375	0.40064	D	0.975939	P;B	0.36837	0.571;0.112	P;B	0.46208	0.507;0.138	T	0.04320	-1.0960	10	0.87932	D	0	.	14.974	0.71257	0.0:0.0:0.0:1.0	.	313;313	Q14190;Q14190-2	SIM2_HUMAN;.	A	313	ENSP00000290399:V313A;ENSP00000404176:V313A	ENSP00000290399:V313A	V	+	2	0	SIM2	37035975	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.770000	0.85390	1.919000	0.55581	0.533000	0.62120	GTG		0.572	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		6	9	0	0	0	0.001984	0	6	9				
TTC3	7267	broad.mit.edu	37	21	38459658	38459658	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:38459658G>T	ENST00000399017.2	+	2	2848	c.101G>T	c.(100-102)aGc>aTc	p.S34I	TTC3_ENST00000354749.2_Missense_Mutation_p.S34I|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000399010.1_Missense_Mutation_p.S34I|TTC3_ENST00000355666.1_Missense_Mutation_p.S34I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	34					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S34I(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAATTTATGAGCAATGATTAT	0.398																																					Ovarian(38;194 1649 35661)	Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(100-102)AGC>ATC		tetratricopeptide repeat domain 3							401.0	346.0	364.0					21																	38459658		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38459658G>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.101G>T	21.37:g.38459658G>T	ENSP00000381981:p.Ser34Ile					TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.S34I|TTC3_uc002ywb.2_Missense_Mutation_p.S34I|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.S34I	p.S34I	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			2	206	+		Myeloproliferative disorder(46;0.0412)	34					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.101G>T	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.910631	0.00508	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.50001	2.58;0.76;2.58;2.91;2.91;2.91	4.53	1.29	0.21616	.	1.183980	0.06412	N	0.720858	T	0.43433	0.1247	L	0.47716	1.5	0.09310	N	0.999999	B	0.15473	0.013	B	0.16289	0.015	T	0.41875	-0.9484	10	0.72032	D	0.01	0.022	9.6245	0.39741	0.0:0.4469:0.464:0.0891	.	34	P53804	TTC3_HUMAN	I	34	ENSP00000403943:S34I;ENSP00000408456:S34I;ENSP00000391891:S34I;ENSP00000347889:S34I;ENSP00000381981:S34I;ENSP00000346791:S34I	ENSP00000346791:S34I	S	+	2	0	TTC3	37381528	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.142000	0.16096	-0.099000	0.12263	-2.242000	0.00287	AGC		0.398	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			53	163	1	0	2.27459e-33	0.00361	4.11723e-33	53	163				
UBASH3A	53347	broad.mit.edu	37	21	43833217	43833217	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:43833217C>A	ENST00000319294.6	+	4	470	c.439C>A	c.(439-441)Cct>Act	p.P147T	UBASH3A_ENST00000291535.6_Missense_Mutation_p.P147T|UBASH3A_ENST00000398367.1_Missense_Mutation_p.P147T	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	147					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.P147T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CACGGCCGTGCCTCTGGCTCT	0.617																																							uc002zbe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(439-441)CCT>ACT		ubiquitin associated and SH3 domain containing,							92.0	87.0	89.0					21																	43833217		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43833217C>A	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.439C>A	21.37:g.43833217C>A	ENSP00000317327:p.Pro147Thr					UBASH3A_uc002zbf.2_Missense_Mutation_p.P147T|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.P147T	p.P147T	NM_018961	NP_061834	P57075	UBS3A_HUMAN			4	475	+			147					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.439C>A	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512411	0.44660	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.41758	0.99;2.08;0.99	5.35	5.35	0.76521	.	0.098289	0.45606	D	0.000354	T	0.56920	0.2018	M	0.76328	2.33	0.80722	D	1	D;P;P	0.58970	0.984;0.956;0.879	P;P;P	0.57425	0.82;0.722;0.474	T	0.61312	-0.7088	10	0.72032	D	0.01	-22.1695	10.2669	0.43460	0.0:0.8792:0.0:0.1208	.	147;147;147	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	T	147	ENSP00000291535:P147T;ENSP00000317327:P147T;ENSP00000381408:P147T	ENSP00000291535:P147T	P	+	1	0	UBASH3A	42706286	0.960000	0.32886	0.092000	0.20876	0.003000	0.03518	3.448000	0.52943	2.502000	0.84385	0.609000	0.83330	CCT		0.617	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		23	87	1	0	6.44725e-10	0.002299	8.38477e-10	23	87				
RRP1B	23076	broad.mit.edu	37	21	45106693	45106693	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:45106693A>G	ENST00000340648.4	+	12	1135	c.1018A>G	c.(1018-1020)Ata>Gta	p.I340V		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	340					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)	p.I340V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AGGAAGCAGTATATCTCAACT	0.473																																							uc002zdk.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1018-1020)ATA>GTA		ribosomal RNA processing 1 homolog B							112.0	108.0	110.0					21																	45106693		2203	4300	6503	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45106693A>G	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1018A>G	21.37:g.45106693A>G	ENSP00000339145:p.Ile340Val					RRP1B_uc002zdl.2_5'UTR	p.I340V	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	12	1132	+			340					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.1018A>G	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.302549	0.23736	.	.	ENSG00000160208	ENST00000340648	T	0.01152	5.26	4.65	-9.3	0.00649	.	1.210610	0.05545	N	0.566531	T	0.00998	0.0033	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48399	-0.9039	10	0.87932	D	0	-14.778	4.3247	0.11034	0.1508:0.1975:0.513:0.1388	.	340	Q14684	RRP1B_HUMAN	V	340	ENSP00000339145:I340V	ENSP00000339145:I340V	I	+	1	0	RRP1B	43931121	0.000000	0.05858	0.000000	0.03702	0.606000	0.37113	-3.424000	0.00475	-1.643000	0.01519	-0.411000	0.06167	ATA		0.473	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		25	35	0	0	0	0.003954	0	25	35				
TRPM2	7226	broad.mit.edu	37	21	45815319	45815320	+	Nonsense_Mutation	DNP	CC	CC	AA	rs144976050		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:45815319_45815320CC>AA	ENST00000397928.1	+	12	2262_2263	c.1817_1818CC>AA	c.(1816-1818)tCC>tAA	p.S606*	TRPM2_ENST00000397932.2_Nonsense_Mutation_p.S606*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.S606*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.S586*|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	606					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.S606*(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGCCTCCGGTCCCTCTACAAGC	0.624																																							uc002zet.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1816-1818)TCC>TAA		transient receptor potential cation channel,																																				SO:0001587	stop_gained	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45815319_45815320CC>AA	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	Exception_encountered	21.37:g.45815319_45815320delinsAA	ENSP00000381023:p.Ser606*					TRPM2_uc002zeu.1_Nonsense_Mutation_p.S606*|TRPM2_uc002zew.1_Nonsense_Mutation_p.S606*|TRPM2_uc010gpt.1_Nonsense_Mutation_p.S606*|TRPM2_uc002zex.1_Nonsense_Mutation_p.S392*|TRPM2_uc002zey.1_Nonsense_Mutation_p.S119*	p.S606*	NM_003307	NP_003298	O94759	TRPM2_HUMAN			13	2030_2031	+			606			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Nonsense_Mutation	DNP	ENST00000397928.1	37	c.1817_1818CC>AA	CCDS13710.1																																																																																				0.624	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		12	80	0	0	0	0.004672	0	12	80				
TRPM2	7226	broad.mit.edu	37	21	45819256	45819256	+	Nonsense_Mutation	SNP	A	A	T	rs575869396		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr21:45819256A>T	ENST00000397928.1	+	14	2585	c.2140A>T	c.(2140-2142)Aag>Tag	p.K714*	TRPM2_ENST00000397932.2_Nonsense_Mutation_p.K714*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.K714*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.K694*|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	714					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.K714*(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCCTGGGGGAAGACCACCTG	0.622																																							uc002zet.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2140-2142)AAG>TAG		transient receptor potential cation channel,							60.0	58.0	59.0					21																	45819256		2203	4300	6503	SO:0001587	stop_gained	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45819256A>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2140A>T	21.37:g.45819256A>T	ENSP00000381023:p.Lys714*					TRPM2_uc002zeu.1_Nonsense_Mutation_p.K714*|TRPM2_uc002zew.1_Nonsense_Mutation_p.K714*|TRPM2_uc010gpt.1_Nonsense_Mutation_p.K714*|TRPM2_uc002zex.1_Nonsense_Mutation_p.K500*|TRPM2_uc002zey.1_Nonsense_Mutation_p.K227*	p.K714*	NM_003307	NP_003298	O94759	TRPM2_HUMAN			15	2353	+			714			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Nonsense_Mutation	SNP	ENST00000397928.1	37	c.2140A>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	A	38	7.182211	0.98118	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	.	.	.	5.08	-0.507	0.11985	.	0.367951	0.30455	N	0.009590	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-20.5154	8.1745	0.31275	0.5425:0.3883:0.0692:0.0	.	.	.	.	X	714;714;694;714	.	ENSP00000300481:K694X	K	+	1	0	TRPM2	44643684	0.034000	0.19679	0.010000	0.14722	0.991000	0.79684	0.976000	0.29462	-0.337000	0.08426	0.454000	0.30748	AAG		0.622	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		10	29	0	0	0	0.010729	0	10	29				
POTEH	23784	broad.mit.edu	37	22	16287715	16287715	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:16287715G>T	ENST00000343518.6	-	1	222	c.171C>A	c.(169-171)ctC>ctA	p.L57L		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	57								p.L57L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCTTGCTCCTGAGTGTCTTCA	0.612																																							uc010gqp.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(169-171)CTC>CTA		ANKRD26-like family C, member 3							73.0	86.0	82.0					22																	16287715		2052	3806	5858	SO:0001819	synonymous_variant	23784							g.chr22:16287715G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.171C>A	22.37:g.16287715G>T						POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	p.L57L	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	223	-			57					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.171C>A	CCDS46658.1																																																																																				0.612	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		71	491	1	0	3.17147e-52	0.00361	6.12338e-52	71	491				
MICAL3	57553	broad.mit.edu	37	22	18301459	18301459	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:18301459A>C	ENST00000441493.2	-	26	4320	c.3968T>G	c.(3967-3969)cTg>cGg	p.L1323R		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1323	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.L1323R(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTCCTCCACCAGGTCGCTCCG	0.657																																							uc002zng.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3967-3969)CTG>CGG		microtubule associated monoxygenase, calponin							49.0	57.0	54.0					22																	18301459		2034	4186	6220	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301459A>C	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3968T>G	22.37:g.18301459A>C	ENSP00000416015:p.Leu1323Arg					MICAL3_uc011agl.1_Missense_Mutation_p.L1239R	p.L1323R	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4321	-		all_epithelial(15;0.198)	1323			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.3968T>G	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.69|15.69	2.909239|2.909239	0.52439|0.52439	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.72394|.	-0.65|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|.	.|.	.|.	.|.	T|T	0.69984|0.69984	0.3172|0.3172	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.67231|.	0.95|.	T|T	0.69665|0.69665	-0.5084|-0.5084	9|5	0.72032|.	D|.	0.01|.	.|.	14.2625|14.2625	0.66094|0.66094	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1323|.	Q7RTP6|.	MICA3_HUMAN|.	R|G	1323|305	ENSP00000416015:L1323R|.	ENSP00000416015:L1323R|.	L|W	-|-	2|1	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16681459|16681459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.200000|0.200000	0.23975|0.23975	8.956000|8.956000	0.93066|0.93066	1.778000|1.778000	0.52293|0.52293	0.379000|0.379000	0.24179|0.24179	CTG|TGG		0.657	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			22	65	0	0	0	0.00333	0	22	65				
HIRA	7290	broad.mit.edu	37	22	19318997	19318997	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:19318997C>A	ENST00000263208.5	-	25	3276	c.3020G>T	c.(3019-3021)tGt>tTt	p.C1007F	HIRA_ENST00000340170.4_Missense_Mutation_p.C800F|HIRA_ENST00000541063.1_Missense_Mutation_p.C963F	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	1007	Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.C1007F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTGTTCCTGACACTCGGTGAA	0.622																																							uc002zpf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3019-3021)TGT>TTT		HIR histone cell cycle regulation defective							96.0	73.0	81.0					22																	19318997		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19318997C>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.3020G>T	22.37:g.19318997C>A	ENSP00000263208:p.Cys1007Phe					HIRA_uc011agx.1_Silent_p.V843V|HIRA_uc010grn.1_Missense_Mutation_p.C800F|HIRA_uc010gro.1_Missense_Mutation_p.C963F	p.C1007F	NM_003325	NP_003316	P54198	HIRA_HUMAN			25	3240	-	Colorectal(54;0.0993)		1007			Interaction with histone H4.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.3020G>T	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	7.747	0.702537	0.15172	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063	T;T;T	0.67865	-0.06;-0.29;-0.13	4.89	3.82	0.43975	.	0.064456	0.64402	D	0.000004	T	0.22551	0.0544	N	0.00289	-1.7	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.18561	0.022;0.002	T	0.37502	-0.9703	10	0.09843	T	0.71	-9.3467	3.9131	0.09211	0.0:0.6883:0.0:0.3117	.	800;1007	P54198-2;P54198	.;HIRA_HUMAN	F	800;1007;963	ENSP00000345350:C800F;ENSP00000263208:C1007F;ENSP00000446073:C963F	ENSP00000263208:C1007F	C	-	2	0	HIRA	17698997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.006000	0.63978	2.542000	0.85734	0.650000	0.86243	TGT		0.622	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		13	55	1	0	3.27435e-08	0.00245	4.01561e-08	13	55				
MED15	51586	broad.mit.edu	37	22	20937232	20937232	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:20937232A>T	ENST00000263205.7	+	11	1584	c.1515A>T	c.(1513-1515)tcA>tcT	p.S505S	MED15_ENST00000292733.7_Silent_p.S465S|MED15_ENST00000382974.2_Silent_p.S394S|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Silent_p.S439S|MED15_ENST00000406969.1_Silent_p.S439S|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000425759.2_Silent_p.S354S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	505	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S465S(1)|p.S505S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGTCCCCTCACCTGGACCTT	0.617																																							uc002zsp.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1513-1515)TCA>TCT		mediator complex subunit 15 isoform a							66.0	66.0	66.0					22																	20937232		2203	4296	6499	SO:0001819	synonymous_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20937232A>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1515A>T	22.37:g.20937232A>T						MED15_uc002zsq.2_Silent_p.S465S|MED15_uc010gso.2_Silent_p.S448S|MED15_uc002zsr.2_Silent_p.S439S|MED15_uc011ahs.1_Silent_p.S439S|MED15_uc002zss.2_Silent_p.S384S|MED15_uc011ahu.1_Silent_p.S215S|MED15_uc002zst.2_Silent_p.S121S|MED15_uc002zsu.2_Silent_p.S110S	p.S505S	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		11	1595	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	505			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	c.1515A>T	CCDS33602.1																																																																																				0.617	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		20	36	0	0	0	0.010504	0	20	36				
PRAME	23532	broad.mit.edu	37	22	22891032	22891032	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:22891032T>A	ENST00000398741.1	-	6	1293	c.987A>T	c.(985-987)atA>atT	p.I329I	PRAME_ENST00000398743.2_Silent_p.I329I|PRAME_ENST00000424204.2_Silent_p.I313I|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000402697.1_Silent_p.I329I|PRAME_ENST00000543184.1_Silent_p.I329I|PRAME_ENST00000539862.1_Silent_p.I313I|PRAME_ENST00000405655.3_Silent_p.I329I	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	329					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.I329I(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GGCAGTTAGTTATTGAGAGGG	0.547																																					Melanoma(73;1707 1838 15168 27201)	Melanoma(73;1707 1838 15168 27201)	uc002zwf.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(985-987)ATA>ATT		preferentially expressed antigen in melanoma							107.0	104.0	105.0					22																	22891032		2203	4300	6503	SO:0001819	synonymous_variant	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22891032T>A	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.987A>T	22.37:g.22891032T>A						LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.I313I|PRAME_uc010gtr.2_Silent_p.I329I|PRAME_uc002zwg.2_Silent_p.I329I|PRAME_uc002zwh.2_Silent_p.I329I|PRAME_uc002zwi.2_Silent_p.I329I|PRAME_uc002zwj.2_Silent_p.I329I|PRAME_uc002zwk.2_Silent_p.I329I	p.I329I	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	5	1143	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	329			LRR 1.		B2R6Y7|O43481|Q8IXN8	Silent	SNP	ENST00000398741.1	37	c.987A>T	CCDS13801.1																																																																																				0.547	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		53	68	0	0	0	0.00361	0	53	68				
CRYBB2	1415	broad.mit.edu	37	22	25627657	25627657	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:25627657C>A	ENST00000398215.2	+	6	707	c.536C>A	c.(535-537)gCc>gAc	p.A179D		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	179	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)	p.A179D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GACTTTGGGGCCCCTCACCCC	0.652																																							uc003abp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(535-537)GCC>GAC		crystallin, beta B2							110.0	94.0	99.0					22																	25627657		2203	4300	6503	SO:0001583	missense	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25627657C>A		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.536C>A	22.37:g.25627657C>A	ENSP00000381273:p.Ala179Asp						p.A179D	NM_000496	NP_000487	P43320	CRBB2_HUMAN			6	584	+			179			Beta/gamma crystallin 'Greek key' 4.		Q9UCM8	Missense_Mutation	SNP	ENST00000398215.2	37	c.536C>A	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	c	16.57	3.159832	0.57368	.	.	ENSG00000244752	ENST00000398215	T	0.79352	-1.26	3.98	3.98	0.46160	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	.	.	.	.	D	0.90570	0.7044	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93291	0.6668	9	0.87932	D	0	.	15.0574	0.71925	0.0:1.0:0.0:0.0	.	179	P43320	CRBB2_HUMAN	D	179	ENSP00000381273:A179D	ENSP00000381273:A179D	A	+	2	0	CRYBB2	23957657	1.000000	0.71417	0.999000	0.59377	0.013000	0.08279	5.740000	0.68629	1.763000	0.52060	0.462000	0.41574	GCC		0.652	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		39	63	1	0	2.26627e-22	0.007835	3.76712e-22	39	63				
SF3A1	10291	broad.mit.edu	37	22	30738254	30738254	+	Missense_Mutation	SNP	T	T	C	rs372226997		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:30738254T>C	ENST00000215793.8	-	6	966	c.812A>G	c.(811-813)tAt>tGt	p.Y271C	SF3A1_ENST00000439242.1_Missense_Mutation_p.Y206C	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	271					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y271C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GATCTGAGCATAGGCCACCCG	0.532																																							uc003ahl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(811-813)TAT>TGT		splicing factor 3a, subunit 1, 120kDa isoform 1		T	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	122.0	97.0	105.0		617,812	6.1	1.0	22		105	0,8600		0,0,4300	no	missense,missense	SF3A1	NM_001005409.1,NM_005877.4	194,194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	206/729,271/794	30738254	1,13005	2203	4300	6503	SO:0001583	missense	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30738254T>C	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.812A>G	22.37:g.30738254T>C	ENSP00000215793:p.Tyr271Cys						p.Y271C	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			6	944	-			271					E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	c.812A>G	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763178	0.69763	2.27E-4	0.0	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	T;T	0.35605	1.3;1.36	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.87547	2.89	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72475	-0.4282	10	0.72032	D	0.01	-15.126	16.6288	0.85011	0.0:0.0:0.0:1.0	.	271	Q15459	SF3A1_HUMAN	C	206;271;168	ENSP00000390336:Y206C;ENSP00000215793:Y271C	ENSP00000215793:Y271C	Y	-	2	0	SF3A1	29068254	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.994000	0.88315	2.326000	0.78906	0.533000	0.62120	TAT		0.532	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		15	27	0	0	0	0.003163	0	15	27				
DEPDC5	9681	broad.mit.edu	37	22	32233048	32233048	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:32233048C>T	ENST00000382112.3	+	25	2304	c.2234C>T	c.(2233-2235)cCc>cTc	p.P745L	DEPDC5_ENST00000400248.2_Missense_Mutation_p.P745L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P676L|RNU6-201P_ENST00000517100.1_RNA|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P745L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P754L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P676L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P754L|DEPDC5_ENST00000400246.1_Missense_Mutation_p.P754L	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	754					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.P676L(1)|p.P745L(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCGTGCCTCCCCCTTACCACC	0.572																																							uc003als.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(2233-2235)CCC>CTC		DEP domain containing 5 isoform 1							123.0	115.0	118.0					22																	32233048		2029	4177	6206	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32233048C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2234C>T	22.37:g.32233048C>T	ENSP00000371546:p.Pro745Leu					DEPDC5_uc011als.1_Missense_Mutation_p.P676L|DEPDC5_uc011alu.1_Missense_Mutation_p.P754L|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.P745L|DEPDC5_uc003alu.2_Missense_Mutation_p.P194L|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.P75L|DEPDC5_uc003alw.2_Missense_Mutation_p.P43L|DEPDC5_uc011alx.1_Intron	p.P745L	NM_014662	NP_055477	O75140	DEPD5_HUMAN			26	2376	+			745					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2234C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170563	0.94807	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	D;D;D;D;D;D;D;D	0.93076	-3.1;-2.68;-2.84;-2.83;-3.16;-2.87;-2.83;-2.84	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	M	0.85041	2.73	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0;0.997	D	0.97540	1.0085	10	0.87932	D	0	.	18.4044	0.90529	0.0:1.0:0.0:0.0	.	75;754;676;754;745;745	B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	L	676;754;745;676;754;676;745;754;745	ENSP00000440210:P676L;ENSP00000266091:P754L;ENSP00000383108:P745L;ENSP00000383105:P754L;ENSP00000371539:P676L;ENSP00000371546:P745L;ENSP00000371545:P754L;ENSP00000383107:P745L	ENSP00000266091:P754L	P	+	2	0	DEPDC5	30563048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.726000	0.84824	2.605000	0.88082	0.655000	0.94253	CCC		0.572	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		17	64	0	0	0	0.004007	0	17	64				
TMPRSS6	164656	broad.mit.edu	37	22	37462912	37462912	+	Missense_Mutation	SNP	C	C	A	rs371794539		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:37462912C>A	ENST00000346753.3	-	17	2347	c.2231G>T	c.(2230-2232)cGc>cTc	p.R744L	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R757L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R735L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R757L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	744	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.R744L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACACAGCATGCGTGGCGTCAC	0.617																																							uc003aqs.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(1)|skin(1)	6						c.(2230-2232)CGC>CTC		transmembrane protease, serine 6							127.0	93.0	105.0					22																	37462912		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37462912C>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2231G>T	22.37:g.37462912C>A	ENSP00000334962:p.Arg744Leu					TMPRSS6_uc003aqt.1_Missense_Mutation_p.R757L	p.R744L	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			17	2345	-			744			Peptidase S1.|Extracellular (Potential).		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.2231G>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170958	0.94807	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	4.72	4.72	0.59763	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.139674	0.43919	D	0.000503	D	0.94660	0.8278	L	0.39566	1.225	0.54753	D	0.999985	P;D	0.69078	0.499;0.997	B;D	0.65233	0.224;0.933	D	0.95560	0.8628	10	0.87932	D	0	.	17.6779	0.88235	0.0:1.0:0.0:0.0	.	757;744	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	L	757;744;735;757	ENSP00000371211:R757L;ENSP00000334962:R744L;ENSP00000385453:R735L;ENSP00000384964:R757L	ENSP00000334962:R744L	R	-	2	0	TMPRSS6	35792858	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.844000	0.62846	2.151000	0.67156	0.591000	0.81541	CGC		0.617	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		6	21	1	0	4.36969e-10	0.001855	5.70256e-10	6	21				
ITPR1	3708	broad.mit.edu	37	3	4695532	4695532	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:4695532C>T	ENST00000357086.4	+	12	1306	c.958C>T	c.(958-960)Cct>Tct	p.P320S	ITPR1_ENST00000423119.2_Missense_Mutation_p.P320S|ITPR1_ENST00000354582.6_Missense_Mutation_p.P320S|ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.P320S|ITPR1_ENST00000443694.2_Intron|ITPR1_ENST00000302640.8_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	320	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.P320S(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCAGGTAGACCCTGACTTTGA	0.468																																							uc003bqa.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(958-960)CCT>TCT		inositol 1,4,5-triphosphate receptor, type 1							80.0	73.0	75.0					3																	4695532		1914	4114	6028	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4695532C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000357086.4:c.958C>T	3.37:g.4695532C>T	ENSP00000349597:p.Pro320Ser					ITPR1_uc010hca.1_Intron|ITPR1_uc011asu.1_Missense_Mutation_p.P320S|ITPR1_uc010hcb.1_Intron	p.P320S	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	12	1306	+			320			Cytoplasmic (Potential).|MIR 4.		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000357086.4	37	c.958C>T	CCDS46740.2	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695861	0.68386	.	.	ENSG00000150995	ENST00000356617;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000544951	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.12	5.18	4.25	0.50352	.	0.179793	0.49305	D	0.000156	D	0.92450	0.7603	M	0.79123	2.44	0.32934	D	0.517475	B;P	0.38250	0.037;0.624	B;P	0.47299	0.092;0.543	D	0.94165	0.7418	10	0.37606	T	0.19	.	14.8295	0.70137	0.1443:0.8557:0.0:0.0	.	320;320	B7ZMI3;G5E9P1	.;.	S	320	ENSP00000346595:P320S;ENSP00000405934:P320S;ENSP00000349597:P320S;ENSP00000440564:P320S	ENSP00000346595:P320S	P	+	1	0	ITPR1	4670532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.306000	0.59117	2.572000	0.86782	0.655000	0.94253	CCT		0.468	ITPR1-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337979.3	NM_002222		9	11	0	0	0	0.006214	0	9	11				
FGD5	152273	broad.mit.edu	37	3	14861826	14861826	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:14861826G>A	ENST00000285046.5	+	1	1358	c.1248G>A	c.(1246-1248)gtG>gtA	p.V416V	FGD5_ENST00000543601.1_Silent_p.V175V	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	416					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.V416V(1)|p.V175V(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGTGGTCGTGCTGGAGGAGG	0.672																																							uc003bzc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(1246-1248)GTG>GTA		FYVE, RhoGEF and PH domain containing 5							25.0	29.0	28.0					3																	14861826		2061	4176	6237	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861826G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1248G>A	3.37:g.14861826G>A						FGD5_uc011avk.1_Silent_p.V416V	p.V416V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1358	+			416					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1248G>A	CCDS46767.1																																																																																				0.672	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		9	38	0	0	0	0.008291	0	9	38				
TOP2B	7155	broad.mit.edu	37	3	25665829	25665829	+	Silent	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:25665829G>C	ENST00000264331.4	-	20	2453	c.2454C>G	c.(2452-2454)ggC>ggG	p.G818G	TOP2B_ENST00000435706.2_Silent_p.G813G	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	818					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.G813G(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CAGCATCTTTGCCACCATGAA	0.363																																							uc011awn.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(2452-2454)GGC>GGG		DNA topoisomerase II, beta isozyme							157.0	152.0	154.0					3																	25665829		1918	4146	6064	SO:0001819	synonymous_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25665829G>C	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2454C>G	3.37:g.25665829G>C						TOP2B_uc003cdj.2_Silent_p.G813G	p.G818G	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			20	2497	-			818					Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37	c.2454C>G																																																																																					0.363	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				4	104	0	0	0	0.000602	0	4	104				
USP4	7375	broad.mit.edu	37	3	49343230	49343230	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:49343230C>A	ENST00000265560.4	-	9	1092	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000351842.4_Missense_Mutation_p.G302V	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	349	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G349V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGCAATTTCCCCTTTCATCCC	0.458																																							uc003cwq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|lung(1)	4						c.(1045-1047)GGG>GTG		ubiquitin specific protease 4 isoform a							117.0	103.0	108.0					3																	49343230		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49343230C>A	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1046G>T	3.37:g.49343230C>A	ENSP00000265560:p.Gly349Val					USP4_uc003cwo.2_Missense_Mutation_p.G79V|USP4_uc003cwp.2_Missense_Mutation_p.G79V|USP4_uc003cwr.2_Missense_Mutation_p.G302V	p.G349V	NM_003363	NP_003354	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	9	1125	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	349					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.1046G>T	CCDS2793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.222829|5.222829	0.95139|0.95139	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000351842;ENST00000265560|ENST00000431357	T;T|.	0.34275|.	1.37;1.37|.	6.05|6.05	6.05|6.05	0.98169|0.98169	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	.|.	.|.	.|.	.|.	D|D	0.84902|0.84902	0.5575|0.5575	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D;D;D|.	0.64830|.	0.993;0.994;0.994|.	D;D;D|.	0.74674|.	0.915;0.984;0.949|.	D|D	0.86021|0.86021	0.1507|0.1507	9|5	0.87932|.	D|.	0|.	-14.6745|-14.6745	19.1715|19.1715	0.93580|0.93580	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	302;349;349|.	Q13107-2;Q13107;Q08AK7|.	.;UBP4_HUMAN;.|.	V|S	302;349|105	ENSP00000341028:G302V;ENSP00000265560:G349V|.	ENSP00000265560:G349V|.	G|R	-|-	2|3	0|2	USP4|USP4	49318234|49318234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.773000|7.773000	0.85462|0.85462	2.872000|2.872000	0.98467|0.98467	0.650000|0.650000	0.86243|0.86243	GGG|AGG		0.458	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		16	53	1	0	2.31682e-05	0.003163	2.64328e-05	16	53				
SEMA3F	6405	broad.mit.edu	37	3	50225348	50225348	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:50225348G>A	ENST00000002829.3	+	19	2642	c.2158G>A	c.(2158-2160)Gca>Aca	p.A720T	SEMA3F_ENST00000434342.1_Missense_Mutation_p.A689T|SEMA3F_ENST00000413852.1_Missense_Mutation_p.A621T	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	720					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)	p.A720T(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		ACCCCCAGGCGCAGGCCCCCC	0.667																																							uc003cyj.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(2158-2160)GCA>ACA		semaphorin 3F precursor							14.0	15.0	14.0					3																	50225348		2200	4295	6495	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50225348G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.2158G>A	3.37:g.50225348G>A	ENSP00000002829:p.Ala720Thr					SEMA3F_uc003cyk.2_Missense_Mutation_p.A689T	p.A720T	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	19	2356	+			720					C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.2158G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	4.011	-0.000606	0.07819	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.52754	0.72;0.65;0.72	5.57	1.17	0.20885	.	0.672294	0.15902	N	0.239035	T	0.29458	0.0734	L	0.40543	1.245	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.30880	-0.9963	10	0.06236	T	0.91	.	6.0615	0.19841	0.3028:0.1299:0.5673:0.0	.	689;720	C9JQ85;Q13275	.;SEM3F_HUMAN	T	621;720;689	ENSP00000388931:A621T;ENSP00000002829:A720T;ENSP00000409859:A689T	ENSP00000002829:A720T	A	+	1	0	SEMA3F	50200352	0.000000	0.05858	0.002000	0.10522	0.065000	0.16274	-0.046000	0.11983	-0.078000	0.12730	-0.448000	0.05591	GCA		0.667	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		4	8	0	0	0	0.001168	0	4	8				
RAD54L2	23132	broad.mit.edu	37	3	51679122	51679122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:51679122C>T	ENST00000409535.2	+	16	2658	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*	RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.Q539*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	845	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.Q845*(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCATGATGCCCAGGCAGTATG	0.488																																							uc011bdt.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(2533-2535)CAG>TAG		RAD54-like 2							167.0	143.0	151.0					3																	51679122		2203	4300	6503	SO:0001587	stop_gained	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51679122C>T	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.2533C>T	3.37:g.51679122C>T	ENSP00000386520:p.Gln845*					RAD54L2_uc003dbh.2_Nonsense_Mutation_p.Q434*|RAD54L2_uc011bdu.1_Nonsense_Mutation_p.Q539*|RAD54L2_uc003dbj.2_Nonsense_Mutation_p.Q171*	p.Q845*	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	16	2658	+			845			Helicase C-terminal.		Q8TB57|Q9BV54	Nonsense_Mutation	SNP	ENST00000409535.2	37	c.2533C>T	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.554000|9.554000	0.99204|0.99204	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.78799|.	0.4340|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80979|.	-0.1140|.	3|.	.|0.87932	.|D	.|0	-13.4606|-13.4606	18.6159|18.6159	0.91303|0.91303	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	673|845;539	.|.	.|ENSP00000296477:Q539X	P|Q	+|+	2|1	0|0	RAD54L2|RAD54L2	51654162|51654162	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.610000|7.610000	0.82949|0.82949	2.642000|2.642000	0.89623|0.89623	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.488	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		21	48	0	0	0	0.010504	0	21	48				
IQCF2	389123	broad.mit.edu	37	3	51897343	51897343	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:51897343C>T	ENST00000333127.3	+	3	481	c.452C>T	c.(451-453)aCa>aTa	p.T151I	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	151								p.T151I(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGTGTGGTCACAGCCACTCAC	0.547																																							uc003dbt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(451-453)ACA>ATA		IQ motif containing F2							105.0	100.0	102.0					3																	51897343		2203	4300	6503	SO:0001583	missense	389123							g.chr3:51897343C>T	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.452C>T	3.37:g.51897343C>T	ENSP00000329904:p.Thr151Ile					IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	p.T151I	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	490	+			151						Missense_Mutation	SNP	ENST00000333127.3	37	c.452C>T	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158931	0.78226	.	.	ENSG00000184345	ENST00000333127	T	0.33865	1.39	5.22	5.22	0.72569	.	0.000000	0.53938	D	0.000054	T	0.54951	0.1890	L	0.55990	1.75	0.29867	N	0.827136	D	0.89917	1.0	D	0.83275	0.996	T	0.53892	-0.8374	10	0.72032	D	0.01	-23.831	14.4799	0.67573	0.0:1.0:0.0:0.0	.	151	Q8IXL9	IQCF2_HUMAN	I	151	ENSP00000329904:T151I	ENSP00000329904:T151I	T	+	2	0	IQCF2	51872383	0.798000	0.28890	0.996000	0.52242	0.997000	0.91878	1.080000	0.30779	2.866000	0.98385	0.650000	0.86243	ACA		0.547	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		30	85	0	0	0	0.003755	0	30	85				
RFT1	91869	broad.mit.edu	37	3	53156537	53156537	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:53156537G>T	ENST00000296292.3	-	4	370	c.309C>A	c.(307-309)atC>atA	p.I103I	RFT1_ENST00000394738.3_Silent_p.I64I	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	103					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)	p.I103I(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GCTGCAACCAGATCCAGCCCA	0.423																																							uc003dgj.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(307-309)ATC>ATA		RFT1 homolog							69.0	63.0	65.0					3																	53156537		2203	4300	6503	SO:0001819	synonymous_variant	91869				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	g.chr3:53156537G>T	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.309C>A	3.37:g.53156537G>T						RFT1_uc003dgk.2_Silent_p.I64I	p.I103I	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)	4	363	-			103			Helical; (Potential).		Q96J03	Silent	SNP	ENST00000296292.3	37	c.309C>A	CCDS2869.1																																																																																				0.423	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		19	26	1	0	2.39187e-15	0.008871	3.50264e-15	19	26				
CACNA2D3	55799	broad.mit.edu	37	3	54786654	54786654	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:54786654G>T	ENST00000474759.1	+	12	1244	c.1196G>T	c.(1195-1197)cGa>cTa	p.R399L	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R399L|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R399L|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R305L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	399	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R399L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CTCATTGGACGAGAGGCTGCG	0.512																																							uc003dhf.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1195-1197)CGA>CTA		calcium channel, voltage-dependent, alpha							105.0	110.0	108.0					3																	54786654		2161	4272	6433	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54786654G>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1196G>T	3.37:g.54786654G>T	ENSP00000419101:p.Arg399Leu					CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.R305L|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.R133L	p.R399L	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	12	1244	+			399			Extracellular (Potential).|VWFA.		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.1196G>T	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138267	0.94560	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	6.02	6.02	0.97574	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	M	0.83012	2.62	0.52501	D	0.99995	D	0.89917	1.0	D	0.83275	0.996	T	0.25710	-1.0124	10	0.52906	T	0.07	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	399	Q8IZS8	CA2D3_HUMAN	L	399;399;399;305;305;304	ENSP00000389506:R399L;ENSP00000419101:R399L;ENSP00000288197:R399L;ENSP00000417279:R305L	ENSP00000288197:R399L	R	+	2	0	CACNA2D3	54761694	1.000000	0.71417	0.920000	0.36463	0.746000	0.42486	9.153000	0.94687	2.865000	0.98341	0.655000	0.94253	CGA		0.512	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			11	18	1	0	2.80697e-09	0.010729	3.5764e-09	11	18				
ADAMTS9	56999	broad.mit.edu	37	3	64672544	64672544	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:64672544C>T	ENST00000498707.1	-	2	558	c.216G>A	c.(214-216)acG>acA	p.T72T	ADAMTS9-AS2_ENST00000481312.1_RNA|ADAMTS9-AS2_ENST00000460833.1_RNA|ADAMTS9_ENST00000295903.4_Silent_p.T72T|ADAMTS9-AS2_ENST00000485174.1_RNA|ADAMTS9-AS2_ENST00000474768.1_RNA|ADAMTS9_ENST00000459780.1_Silent_p.T72T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	72					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T72T(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCTCCGTCGCGTTCTTTTGA	0.557																																							uc003dmg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(214-216)ACG>ACA		ADAM metallopeptidase with thrombospondin type 1							101.0	79.0	86.0					3																	64672544		2203	4300	6503	SO:0001819	synonymous_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64672544C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.216G>A	3.37:g.64672544C>T						ADAMTS9_uc011bfo.1_Silent_p.T72T|ADAMTS9_uc003dmh.1_5'UTR|ADAMTS9_uc003dmk.1_Silent_p.T72T|uc003dml.2_Intron	p.T72T	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	2	248	-		Lung NSC(201;0.00682)	72					A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	c.216G>A	CCDS2903.1																																																																																				0.557	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			10	23	0	0	0	0.008291	0	10	23				
EIF4E3	317649	broad.mit.edu	37	3	71748851	71748851	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:71748851C>A	ENST00000425534.3	-	3	265	c.258G>T	c.(256-258)tgG>tgT	p.W86C	EIF4E3_ENST00000295612.3_5'UTR|EIF4E3_ENST00000448225.1_5'UTR|EIF4E3_ENST00000468147.1_Intron|EIF4E3_ENST00000421769.2_5'UTR|EIF4E3_ENST00000389826.3_5'UTR	NM_001134651.1	NP_001128123.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3	86					cytokine-mediated signaling pathway (GO:0019221)|regulation of translation (GO:0006417)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)	p.W86C(1)		large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		TGTATACACTCCAAAATATCT	0.318																																							uc003dov.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(256-258)TGG>TGT		eukaryotic translation initiation factor 4E							72.0	57.0	61.0					3																	71748851		692	1591	2283	SO:0001583	missense	317649				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr3:71748851C>A	AK126999	CCDS33786.1, CCDS46867.1	3p14	2008-02-05	2006-11-13		ENSG00000163412	ENSG00000163412			31837	protein-coding gene	gene with protein product		609896	"""eukaryotic translation initiation factor 4E member 3"""			15153109	Standard	NM_173359		Approved	MGC39820	uc003dov.4	Q8N5X7	OTTHUMG00000158797	ENST00000425534.3:c.258G>T	3.37:g.71748851C>A	ENSP00000393324:p.Trp86Cys					EIF4E3_uc011bgc.1_5'UTR|EIF4E3_uc003dox.2_5'UTR|EIF4E3_uc011bgd.1_5'UTR|EIF4E3_uc010hoc.2_5'UTR	p.W86C	NM_001134651	NP_001128123	Q8N5X7	IF4E3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)	3	266	-		Prostate(10;0.0166)	86					B2R963|Q6NUT1	Missense_Mutation	SNP	ENST00000425534.3	37	c.258G>T	CCDS46867.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788241	0.70337	.	.	ENSG00000163412	ENST00000425534	T	0.56103	0.48	5.85	4.98	0.66077	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.80507	0.4636	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86760	0.1966	10	0.87932	D	0	4.2933	16.4114	0.83713	0.1326:0.8674:0.0:0.0	.	86	Q8N5X7	IF4E3_HUMAN	C	86	ENSP00000393324:W86C	ENSP00000393324:W86C	W	-	3	0	EIF4E3	71831541	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.316000	0.79007	1.464000	0.47987	0.561000	0.74099	TGG		0.318	EIF4E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352294.2	NM_173359		22	67	1	0	8.10497e-08	0.010504	9.89148e-08	22	67				
HTR1F	3355	broad.mit.edu	37	3	88040284	88040284	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:88040284G>A	ENST00000319595.4	+	1	439	c.385G>A	c.(385-387)Gtt>Att	p.V129I		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	129					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V129I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CACAGATGCTGTTGAGTATGC	0.433																																							uc003dqr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(385-387)GTT>ATT		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						80.0	70.0	73.0					3																	88040284		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040284G>A	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.385G>A	3.37:g.88040284G>A	ENSP00000322924:p.Val129Ile						p.V129I	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	543	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	129			Cytoplasmic (By similarity).			Missense_Mutation	SNP	ENST00000319595.4	37	c.385G>A	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	G	8.478	0.859043	0.17178	.	.	ENSG00000179097	ENST00000319595	T	0.36699	1.24	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	N	0.11106	0.095	0.45390	D	0.998377	B	0.14012	0.009	B	0.21708	0.036	T	0.07520	-1.0768	10	0.08179	T	0.78	.	16.1741	0.81840	0.0:0.0:1.0:0.0	.	129	P30939	5HT1F_HUMAN	I	129	ENSP00000322924:V129I	ENSP00000322924:V129I	V	+	1	0	HTR1F	88122974	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	6.741000	0.74837	2.426000	0.82243	0.484000	0.47621	GTT		0.433	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		6	30	0	0	0	0.001168	0	6	30				
IMPG2	50939	broad.mit.edu	37	3	100963380	100963380	+	Missense_Mutation	SNP	C	C	T	rs368525575		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:100963380C>T	ENST00000193391.7	-	13	1982	c.1795G>A	c.(1795-1797)Ggt>Agt	p.G599S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	599					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.G599S(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CCTAAACCACCGTCAAATATT	0.468																																							uc003duq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1795-1797)GGT>AGT		interphotoreceptor matrix proteoglycan 2		T	SER/GLY	2,4404	826.0+/-416.6	0,2,2201	143.0	135.0	138.0		1795	4.2	1.0	3		138	0,8600		0,0,4300	no	missense	IMPG2	NM_016247.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	599/1242	100963380	2,13004	2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100963380C>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1795G>A	3.37:g.100963380C>T	ENSP00000193391:p.Gly599Ser					IMPG2_uc011bhe.1_Missense_Mutation_p.G462S	p.G599S	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			13	1998	-			599			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.1795G>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.870471	0.00542	4.54E-4	0.0	ENSG00000081148	ENST00000193391	T	0.19532	2.14	5.35	4.16	0.48862	.	0.290858	0.35805	N	0.002977	T	0.04588	0.0125	N	0.01048	-1.04	0.20074	N	0.999938	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40194	-0.9576	10	0.02654	T	1	-0.5757	3.6358	0.08148	0.1585:0.2344:0.0:0.6071	.	599;599	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	S	599	ENSP00000193391:G599S	ENSP00000193391:G599S	G	-	1	0	IMPG2	102446070	0.807000	0.29009	0.997000	0.53966	0.042000	0.13812	1.351000	0.34022	1.051000	0.40369	-0.254000	0.11334	GGT		0.468	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			28	121	0	0	0	0.012213	0	28	121				
ZPLD1	131368	broad.mit.edu	37	3	102157407	102157407	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:102157407T>A	ENST00000491959.1	+	9	958	c.76T>A	c.(76-78)Tgt>Agt	p.C26S	ZPLD1_ENST00000306176.1_Missense_Mutation_p.C42S|ZPLD1_ENST00000466937.1_Missense_Mutation_p.C26S			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	26						integral component of membrane (GO:0016021)		p.C42S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CGGCTACAACTGTGATGCCAA	0.408																																							uc003dvs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(76-78)TGT>AGT		zona pellucida-like domain containing 1							118.0	106.0	110.0					3																	102157407		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102157407T>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.76T>A	3.37:g.102157407T>A	ENSP00000420265:p.Cys26Ser					ZPLD1_uc003dvt.1_Missense_Mutation_p.C42S|ZPLD1_uc011bhg.1_Missense_Mutation_p.C26S	p.C26S	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			9	958	+			26			Extracellular (Potential).		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.76T>A		.	.	.	.	.	.	.	.	.	.	T	23.0	4.360844	0.82353	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.84944	-1.85;-1.92;-1.85	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.88706	0.6509	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.927	D	0.89761	0.3947	10	0.62326	D	0.03	0.1359	15.1739	0.72896	0.0:0.0:0.0:1.0	.	42;26	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	S	26;42;26	ENSP00000420265:C26S;ENSP00000307801:C42S;ENSP00000418253:C26S	ENSP00000307801:C42S	C	+	1	0	ZPLD1	103640097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.651000	0.74372	1.996000	0.58369	0.482000	0.46254	TGT		0.408	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		14	27	0	0	0	0.001855	0	14	27				
MORC1	27136	broad.mit.edu	37	3	108698419	108698419	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:108698419G>T	ENST00000483760.1	-	23	2400	c.2357C>A	c.(2356-2358)gCg>gAg	p.A786E	MORC1_ENST00000232603.5_Missense_Mutation_p.A807E					MORC family CW-type zinc finger 1									p.A807E(1)|p.A807V(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTGAGAAGACGCTGGCGAAGA	0.413																																							uc003dxl.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(3)|skin(3)|breast(2)	8						c.(2419-2421)GCG>GAG		MORC family CW-type zinc finger 1							116.0	114.0	115.0					3																	108698419		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108698419G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2357C>A	3.37:g.108698419G>T	ENSP00000417282:p.Ala786Glu					MORC1_uc011bhn.1_Missense_Mutation_p.A786E	p.A807E	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			24	2507	-			807						Missense_Mutation	SNP	ENST00000483760.1	37	c.2420C>A		.	.	.	.	.	.	.	.	.	.	G	0.043	-1.275468	0.01410	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05319	3.47;3.46	5.14	-3.28	0.05033	.	4.135290	0.01650	N	0.024523	T	0.02083	0.0065	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36768	-0.9734	10	0.02654	T	1	-0.0175	3.7805	0.08679	0.3232:0.0:0.3097:0.3671	.	786;807	E7ERX1;Q86VD1	.;MORC1_HUMAN	E	807;786	ENSP00000232603:A807E;ENSP00000417282:A786E	ENSP00000232603:A807E	A	-	2	0	MORC1	110181109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.884000	0.04166	-0.568000	0.06038	-0.747000	0.03512	GCG		0.413	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			30	62	1	0	3.65163e-15	0.00632	5.27769e-15	30	62				
CCDC80	151887	broad.mit.edu	37	3	112358661	112358661	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:112358661C>A	ENST00000206423.3	-	2	1045	c.92G>T	c.(91-93)gGc>gTc	p.G31V	CCDC80_ENST00000439685.2_Missense_Mutation_p.G31V|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	31					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.G31V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCCGTGGCTGCCTCTAATAGT	0.552																																							uc003dzf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(91-93)GGC>GTC		steroid-sensitive protein 1 precursor							64.0	58.0	60.0					3																	112358661		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112358661C>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.92G>T	3.37:g.112358661C>A	ENSP00000206423:p.Gly31Val					CCDC80_uc011bhv.1_Missense_Mutation_p.G31V|CCDC80_uc003dzg.2_Missense_Mutation_p.G31V|CCDC80_uc003dzh.1_Missense_Mutation_p.G31V	p.G31V	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			2	310	-			31					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.92G>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	2.272	-0.366749	0.05069	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.43294	0.95;0.95	5.25	0.109	0.14578	.	0.623463	0.15565	N	0.255746	T	0.32675	0.0837	L	0.27053	0.805	0.09310	N	1	P;B;P	0.40431	0.717;0.186;0.594	P;B;B	0.44990	0.466;0.098;0.276	T	0.18999	-1.0319	10	0.41790	T	0.15	-4.6613	9.3313	0.38023	0.0:0.6372:0.2249:0.1379	.	42;31;31	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	V	31	ENSP00000206423:G31V;ENSP00000411814:G31V	ENSP00000206423:G31V	G	-	2	0	CCDC80	113841351	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.031000	0.13710	-0.160000	0.11002	-0.961000	0.02630	GGC		0.552	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		17	44	1	0	5.35267e-07	0.007413	6.39771e-07	17	44				
CFAP44	55779	broad.mit.edu	37	3	113084979	113084979	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:113084979C>A	ENST00000295868.2	-	19	2784	c.2622G>T	c.(2620-2622)gtG>gtT	p.V874V	WDR52_ENST00000393845.2_Silent_p.V874V	NM_018338.3	NP_060808.2												p.V22V(1)|p.V874V(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTCCAGCAGTCACCAAGAAAC	0.373																																							uc003eae.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(2620-2622)GTG>GTT		WD repeat domain 52 isoform 2							98.0	99.0	99.0					3																	113084979		2203	4300	6503	SO:0001819	synonymous_variant	55779							g.chr3:113084979C>A																												ENST00000295868.2:c.2622G>T	3.37:g.113084979C>A						WDR52_uc003ead.1_Silent_p.V55V	p.V874V	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			19	2668	-			874			WD 9.			Silent	SNP	ENST00000295868.2	37	c.2622G>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	0.422	-0.907889	0.02434	.	.	ENSG00000206530	ENST00000465636	.	.	.	5.59	4.72	0.59763	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54549	-0.8277	4	.	.	.	-2.0432	5.7983	0.18399	0.1562:0.684:0.0:0.1598	.	.	.	.	Y	11	.	.	D	-	1	0	WDR52	114567669	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	2.333000	0.43912	1.506000	0.48736	0.650000	0.86243	GAC		0.373	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			18	69	1	0	1.56452e-12	0.007413	2.16959e-12	18	69				
KIAA1407	57577	broad.mit.edu	37	3	113724429	113724429	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:113724429T>A	ENST00000295878.3	-	10	1940	c.1794A>T	c.(1792-1794)gcA>gcT	p.A598A	KIAA1407_ENST00000545063.1_Silent_p.A429A	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	598								p.A598A(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTTCTGTGACTGCTAAGGCAT	0.493																																							uc003eax.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1792-1794)GCA>GCT		hypothetical protein LOC57577							128.0	127.0	127.0					3																	113724429		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113724429T>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1794A>T	3.37:g.113724429T>A						KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Silent_p.A576A|KIAA1407_uc011bip.1_Silent_p.A585A	p.A598A	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			10	1941	-			598					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.1794A>T	CCDS2977.1																																																																																				0.493	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		60	89	0	0	0	0.00361	0	60	89				
DRD3	1814	broad.mit.edu	37	3	113890579	113890579	+	Silent	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:113890579T>A	ENST00000460779.1	-	3	550	c.261A>T	c.(259-261)gtA>gtT	p.V87V	DRD3_ENST00000383673.2_Silent_p.V87V|DRD3_ENST00000467632.1_Silent_p.V87V|DRD3_ENST00000295881.7_Silent_p.V87V	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	87					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.V87V(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCTCCAGGTATACCACCCAGG	0.547																																							uc003ebd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(259-261)GTA>GTT		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						119.0	112.0	114.0					3																	113890579		2203	4300	6503	SO:0001819	synonymous_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113890579T>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.261A>T	3.37:g.113890579T>A						DRD3_uc010hqn.1_Silent_p.V87V|DRD3_uc003ebb.1_Silent_p.V87V|DRD3_uc003ebc.1_Silent_p.V87V	p.V87V	NM_000796	NP_000787	P35462	DRD3_HUMAN			3	684	-			87			Helical; Name=2.		A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.261A>T	CCDS2978.1																																																																																				0.547	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		26	71	0	0	0	0.00632	0	26	71				
MAATS1	89876	broad.mit.edu	37	3	119462963	119462963	+	Missense_Mutation	SNP	C	C	T	rs139653997	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:119462963C>T	ENST00000273390.5	+	14	1899	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	444						mitochondrion (GO:0005739)		p.R608W(1)									GCGCCAGCGGCGGGTACGAGA	0.587																																							uc003ede.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1822-1824)CGG>TGG		AAT1-alpha		C	TRP/ARG	0,4406		0,0,2203	75.0	71.0	72.0		1822	-1.9	1.0	3	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf15	NM_033364.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	608/768	119462963	1,13005	2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119462963C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1822C>T	3.37:g.119462963C>T	ENSP00000273390:p.Arg608Trp					C3orf15_uc010hqz.2_Missense_Mutation_p.R546W|C3orf15_uc011bjd.1_Missense_Mutation_p.R482W|C3orf15_uc011bje.1_Missense_Mutation_p.R588W	p.R608W	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	14	1899	+			444					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1822C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220628	0.79464	0.0	1.16E-4	ENSG00000183833	ENST00000273390	T	0.27104	1.69	5.65	-1.85	0.07784	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.51317	-0.8721	10	0.66056	D	0.02	-12.1187	17.4717	0.87647	0.5747:0.4253:0.0:0.0	.	444;546;608	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	W	608	ENSP00000273390:R608W	ENSP00000273390:R608W	R	+	1	2	C3orf15	120945653	0.989000	0.36119	0.974000	0.42286	0.852000	0.48524	1.072000	0.30678	-0.312000	0.08741	-0.516000	0.04426	CGG		0.587	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		18	45	0	0	0	0.008871	0	18	45				
PARP14	54625	broad.mit.edu	37	3	122446791	122446791	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:122446791G>T	ENST00000474629.2	+	16	5340	c.5074G>T	c.(5074-5076)Gtc>Ttc	p.V1692F		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1692	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.V1529F(1)|p.V1692F(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CGTGCCACACGTCAATCGAAA	0.498																																							uc003efq.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(5074-5076)GTC>TTC		poly (ADP-ribose) polymerase family, member 14							64.0	63.0	64.0					3																	122446791		2000	4181	6181	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122446791G>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5074G>T	3.37:g.122446791G>T	ENSP00000418194:p.Val1692Phe					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.V1409F	p.V1692F	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	16	5133	+			1692			PARP catalytic.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.5074G>T	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548535	0.45383	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.16073	2.37	5.63	2.8	0.32819	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.330561	0.25425	N	0.030778	T	0.40522	0.1120	M	0.86953	2.85	0.41238	D	0.986623	D	0.89917	1.0	D	0.73708	0.981	T	0.25779	-1.0122	10	0.87932	D	0	.	5.8741	0.18819	0.226:0.1568:0.6172:0.0	.	1692	Q460N5	PAR14_HUMAN	F	1692;1611;688	ENSP00000418194:V1692F	ENSP00000381224:V688F	V	+	1	0	PARP14	123929481	1.000000	0.71417	0.942000	0.38095	0.028000	0.11728	4.309000	0.59135	0.695000	0.31675	0.655000	0.94253	GTC		0.498	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		12	21	1	0	0.00010058	0.001368	0.000112536	12	21				
CCDC14	64770	broad.mit.edu	37	3	123634422	123634422	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:123634422G>T	ENST00000488653.2	-	13	2156	c.2066C>A	c.(2065-2067)tCc>tAc	p.S689Y	CCDC14_ENST00000485727.1_Missense_Mutation_p.S489Y|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.S489Y|CCDC14_ENST00000310351.4_Missense_Mutation_p.S529Y|CCDC14_ENST00000433542.2_Missense_Mutation_p.S648Y			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	689				S -> P (in Ref. 2; BAH11968). {ECO:0000305}.	substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.S529Y(1)|p.S648Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GCTCATTATGGAAGTGTGAGC	0.388																																							uc011bjx.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2065-2067)TCC>TAC		coiled-coil domain containing 14							93.0	100.0	97.0					3																	123634422		2203	4300	6503	SO:0001583	missense	64770					centrosome		g.chr3:123634422G>T	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2066C>A	3.37:g.123634422G>T	ENSP00000420180:p.Ser689Tyr					CCDC14_uc003egv.3_Missense_Mutation_p.S330Y|CCDC14_uc003egx.3_Missense_Mutation_p.S489Y|CCDC14_uc010hrt.2_Missense_Mutation_p.S648Y|CCDC14_uc003egy.3_Missense_Mutation_p.S489Y|CCDC14_uc003egz.2_Intron	p.S689Y	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	13	2157	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	689	S -> P (in Ref. 2; BAH11968).				B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37	c.2066C>A		.	.	.	.	.	.	.	.	.	.	G	14.32	2.499500	0.44455	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33	5.23	3.4	0.38934	.	0.167548	0.42420	D	0.000713	T	0.66742	0.2820	M	0.63843	1.955	0.38685	D	0.952624	D;D;D	0.63046	0.992;0.992;0.992	P;P;P	0.58172	0.834;0.834;0.834	T	0.73375	-0.4002	10	0.87932	D	0	.	11.7278	0.51720	0.1449:0.0:0.8551:0.0	.	689;648;530	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	Y	689;529;489;489;648;670	ENSP00000420180:S689Y;ENSP00000312031:S529Y;ENSP00000418002:S489Y;ENSP00000418403:S489Y;ENSP00000395706:S648Y;ENSP00000386866:S670Y	ENSP00000312031:S529Y	S	-	2	0	CCDC14	125117112	1.000000	0.71417	0.993000	0.49108	0.369000	0.29798	4.878000	0.63093	1.435000	0.47434	0.591000	0.81541	TCC		0.388	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		32	72	1	0	7.72975e-29	0.002836	1.35676e-28	32	72				
PLXND1	23129	broad.mit.edu	37	3	129293305	129293305	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:129293305G>T	ENST00000324093.4	-	12	2737	c.2559C>A	c.(2557-2559)agC>agA	p.S853R	PLXND1_ENST00000393239.1_Missense_Mutation_p.S853R	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	853					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.S853R(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AACAGTCGGGGCTGCCCATGG	0.672																																					Ovarian(97;366 1484 3738 22084 39045)	Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2557-2559)AGC>AGA		plexin D1 precursor							28.0	29.0	29.0					3																	129293305		2203	4298	6501	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129293305G>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2559C>A	3.37:g.129293305G>T	ENSP00000317128:p.Ser853Arg						p.S853R	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			12	2659	-			853			Extracellular (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.2559C>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949794	0.34377	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.32272	1.5;1.46	4.32	4.32	0.51571	.	0.048162	0.85682	D	0.000000	T	0.34454	0.0898	L	0.56769	1.78	0.44627	D	0.997609	D	0.60575	0.988	P	0.54664	0.758	T	0.37686	-0.9695	10	0.02654	T	1	.	8.8956	0.35463	0.1463:0.0:0.8537:0.0	.	853	Q9Y4D7	PLXD1_HUMAN	R	853	ENSP00000317128:S853R;ENSP00000376931:S853R	ENSP00000317128:S853R	S	-	3	2	PLXND1	130775995	0.982000	0.34865	1.000000	0.80357	0.960000	0.62799	0.194000	0.17135	2.102000	0.63906	0.511000	0.50034	AGC		0.672	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		9	18	1	0	0.000442599	0.006214	0.00048512	9	18				
CLSTN2	64084	broad.mit.edu	37	3	140251280	140251280	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:140251280C>A	ENST00000458420.3	+	9	1649	c.1459C>A	c.(1459-1461)Cat>Aat	p.H487N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	487					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.H487N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTGGCCCATTCATCCATCTCA	0.458										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1459-1461)CAT>AAT		calsyntenin 2 precursor							161.0	133.0	142.0					3																	140251280		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140251280C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1459C>A	3.37:g.140251280C>A	ENSP00000402460:p.His487Asn	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.H487N	p.H487N	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			9	1649	+			487			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1459C>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957977	0.92726	.	.	ENSG00000158258	ENST00000458420	T	0.02103	4.45	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.00066	-1.2146	9	.	.	.	-24.3017	17.2644	0.87081	0.0:1.0:0.0:0.0	.	487	Q9H4D0	CSTN2_HUMAN	N	487	ENSP00000402460:H487N	.	H	+	1	0	CLSTN2	141733970	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.697000	0.92050	0.655000	0.94253	CAT		0.458	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		32	68	1	0	2.42023e-17	0.003271	3.66687e-17	32	68				
CLSTN2	64084	broad.mit.edu	37	3	140277558	140277558	+	Silent	SNP	C	C	A	rs201837454		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:140277558C>A	ENST00000458420.3	+	12	2090	c.1900C>A	c.(1900-1902)Cgg>Agg	p.R634R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	634					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.R634R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CATCGAGCCCCGGATCACCCT	0.557										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1900-1902)CGG>AGG		calsyntenin 2 precursor							79.0	76.0	77.0					3																	140277558		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140277558C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1900C>A	3.37:g.140277558C>A		HNSCC(16;0.037)					p.R634R	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			12	2090	+			634			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1900C>A	CCDS3112.1																																																																																				0.557	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		19	59	1	0	1.2644e-06	0.010504	1.49231e-06	19	59				
CHST2	9435	broad.mit.edu	37	3	142840944	142840944	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:142840944T>A	ENST00000309575.3	+	2	2670	c.1286T>A	c.(1285-1287)gTg>gAg	p.V429E		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	429					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.V429E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGGACCTGGTGGGAGACCCC	0.587																																							uc003evm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1285-1287)GTG>GAG		carbohydrate (N-acetylglucosamine-6-O)							71.0	67.0	68.0					3																	142840944		2203	4300	6503	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840944T>A	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1286T>A	3.37:g.142840944T>A	ENSP00000307911:p.Val429Glu						p.V429E	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			2	2175	+			429			Lumenal (Potential).		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1286T>A	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852895	0.71719	.	.	ENSG00000175040	ENST00000309575	D	0.81996	-1.56	4.33	4.33	0.51752	Sulfotransferase domain (1);	0.076831	0.51477	D	0.000088	D	0.90834	0.7121	M	0.84326	2.69	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91586	0.5283	10	0.52906	T	0.07	-15.0235	13.6608	0.62366	0.0:0.0:0.0:1.0	.	429	Q9Y4C5	CHST2_HUMAN	E	429	ENSP00000307911:V429E	ENSP00000307911:V429E	V	+	2	0	CHST2	144323634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.126000	0.71635	1.812000	0.52913	0.334000	0.21626	GTG		0.587	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		19	21	0	0	0	0.010504	0	19	21				
GPR149	344758	broad.mit.edu	37	3	154055976	154055976	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:154055976G>A	ENST00000389740.2	-	4	1807	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	570					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L570F(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TAGGTAGAAAGAGATAGGGTT	0.468																																							uc003faa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1708-1710)CTT>TTT		G protein-coupled receptor 149							149.0	147.0	148.0					3																	154055976		1853	4088	5941	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055976G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1708C>T	3.37:g.154055976G>A	ENSP00000374390:p.Leu570Phe						p.L570F	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1808	-			570			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000389740.2	37	c.1708C>T	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420556	0.62622	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	T	0.55369	0.1916	N	0.24115	0.695	0.53688	D	0.99997	D	0.89917	1.0	D	0.85130	0.997	T	0.59440	-0.7454	9	0.87932	D	0	-13.6211	7.2689	0.26246	0.2038:0.0:0.7962:0.0	.	570	Q86SP6	GP149_HUMAN	F	570	.	ENSP00000374390:L570F	L	-	1	0	GPR149	155538670	1.000000	0.71417	0.977000	0.42913	0.659000	0.38960	4.359000	0.59449	2.615000	0.88500	0.650000	0.86243	CTT		0.468	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		99	128	0	0	0	0.00361	0	99	128				
GMPS	8833	broad.mit.edu	37	3	155632279	155632279	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:155632279C>A	ENST00000496455.2	+	8	1293	c.958C>A	c.(958-960)Cgg>Agg	p.R320R	GMPS_ENST00000295920.7_Silent_p.R221R	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	320	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.R320R(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	TAGAACCCCACGGAAAAGAAT	0.358			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	Ovarian(153;896 1876 4149 15499 28134)	uc003faq.2		NA		Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(958-960)CGG>AGG		guanine monophosphate synthetase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						115.0	106.0	109.0					3																	155632279		1816	4070	5886	SO:0001819	synonymous_variant	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155632279C>A	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.958C>A	3.37:g.155632279C>A						GMPS_uc011bom.1_Silent_p.R221R	p.R320R	NM_003875	NP_003866	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		8	1293	+			320					A8K639|B4DXV7|F8W720	Silent	SNP	ENST00000496455.2	37	c.958C>A	CCDS46941.1																																																																																				0.358	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			31	68	1	0	2.47511e-08	0.008361	3.06035e-08	31	68				
PPM1L	151742	broad.mit.edu	37	3	160783208	160783208	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:160783208G>T	ENST00000498165.1	+	3	693	c.592G>T	c.(592-594)Gct>Tct	p.A198S	PPM1L_ENST00000295839.9_Missense_Mutation_p.A71S|PPM1L_ENST00000464260.1_Missense_Mutation_p.A19S|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	198	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.A198S(1)|p.A19S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GTGTTTGATTGCTCTGCTATC	0.488																																					Pancreas(86;250 1994 13715 43211)	Pancreas(86;250 1994 13715 43211)	uc003fdr.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(592-594)GCT>TCT		protein phosphatase 1 (formerly 2C)-like							98.0	102.0	101.0					3																	160783208		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160783208G>T	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.592G>T	3.37:g.160783208G>T	ENSP00000417659:p.Ala198Ser					PPM1L_uc003fds.2_Missense_Mutation_p.A19S|PPM1L_uc003fdt.2_Missense_Mutation_p.A71S|PPM1L_uc010hwf.2_RNA	p.A198S	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		3	693	+			198			Cytoplasmic (Potential).|PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.592G>T	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695595	0.88830	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.21932	1.98;1.98;1.98	5.12	5.12	0.69794	Protein phosphatase 2C-like (5);	0.092704	0.85682	D	0.000000	T	0.51381	0.1671	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.81914	0.921;0.995	T	0.56920	-0.7899	10	0.87932	D	0	.	17.7238	0.88359	0.0:0.0:1.0:0.0	.	71;198	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	S	198;19;71	ENSP00000417659:A198S;ENSP00000420746:A19S;ENSP00000295839:A71S	ENSP00000295839:A71S	A	+	1	0	PPM1L	162265902	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.235000	0.95353	2.681000	0.91329	0.561000	0.74099	GCT		0.488	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		24	72	1	0	7.92952e-12	0.003954	1.08365e-11	24	72				
SLITRK3	22865	broad.mit.edu	37	3	164906717	164906717	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:164906717C>A	ENST00000475390.1	-	2	2345	c.1902G>T	c.(1900-1902)ggG>ggT	p.G634G	SLITRK3_ENST00000241274.3_Silent_p.G634G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	634					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.G634G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGGTTGGTGCCCCAATAAGGT	0.527										HNSCC(40;0.11)																													uc003fej.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1900-1902)GGG>GGT		slit and trk like 3 protein precursor							35.0	38.0	37.0					3																	164906717		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906717C>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1902G>T	3.37:g.164906717C>A		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.G634G	p.G634G	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2346	-			634			Extracellular (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.1902G>T	CCDS3197.1																																																																																				0.527	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		6	12	1	0	0.00116845	0.001168	0.00125871	6	12				
SAMD7	344658	broad.mit.edu	37	3	169637321	169637322	+	Missense_Mutation	DNP	AG	AG	TT			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:169637321_169637322AG>TT	ENST00000428432.2	+	3	424_425	c.35_36AG>TT	c.(34-36)cAG>cTT	p.Q12L	SAMD7_ENST00000335556.3_Missense_Mutation_p.Q12L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	12								p.Q12L(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CCAACAGGGCAGCAGACAATCC	0.431																																							uc003fgd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(34-36)CAG>CTT		sterile alpha motif domain containing 7																																				SO:0001583	missense	344658							g.chr3:169637321_169637322AG>TT	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	Exception_encountered	3.37:g.169637321_169637322delinsTT	ENSP00000391299:p.Gln12Leu					SAMD7_uc003fge.2_Missense_Mutation_p.Q12L|SAMD7_uc011bpo.1_5'UTR	p.Q12L	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		3	302_303	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		12						Missense_Mutation	DNP	ENST00000428432.2	37	c.35_36AG>TT	CCDS3209.1																																																																																				0.431	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		30	51	0	0	0	0.004672	0	30	51				
NLGN1	22871	broad.mit.edu	37	3	173322536	173322536	+	Missense_Mutation	SNP	G	G	T	rs79808130		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:173322536G>T	ENST00000457714.1	+	3	577	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	NLGN1_ENST00000361589.4_Missense_Mutation_p.D50Y|NLGN1_ENST00000401917.3_Missense_Mutation_p.D50Y|NLGN1_ENST00000545397.1_Missense_Mutation_p.D50Y	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	50					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)	p.D50Y(1)		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)			AAAATTGGATGATGTGGACCC	0.458																																							uc003fio.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(148-150)GAT>TAT		neuroligin 1							147.0	145.0	146.0					3																	173322536		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.chr3:173322536G>T	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.148G>T	3.37:g.173322536G>T	ENSP00000392500:p.Asp50Tyr					NLGN1_uc010hww.1_Missense_Mutation_p.D50Y|NLGN1_uc003fip.1_Missense_Mutation_p.D50Y	p.D50Y	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	571	+	Ovarian(172;0.0025)		50			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.148G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707570	0.68615	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.62	5.62	0.85841	.	0.072364	0.53938	D	0.000053	T	0.70605	0.3243	L	0.51422	1.61	0.51767	D	0.999933	P;D	0.54397	0.848;0.966	P;P	0.49477	0.612;0.532	T	0.68618	-0.5361	10	0.38643	T	0.18	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	50;50	D2X2H5;Q8N2Q7-2	.;.	Y	50	ENSP00000392500:D50Y;ENSP00000354541:D50Y;ENSP00000410374:D50Y;ENSP00000441108:D50Y;ENSP00000385750:D50Y	ENSP00000354541:D50Y	D	+	1	0	NLGN1	174805230	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.174000	0.94824	2.809000	0.96659	0.467000	0.42956	GAT		0.458	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		40	72	1	0	3.09479e-21	0.006999	5.0441e-21	40	72				
MCF2L2	23101	broad.mit.edu	37	3	182947468	182947468	+	Nonsense_Mutation	SNP	G	G	T	rs149684646	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:182947468G>T	ENST00000328913.3	-	17	2328	c.2031C>A	c.(2029-2031)taC>taA	p.Y677*	MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.Y677*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.Y677*	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	677	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y677*(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGTGAAATTCGTAAAGTTCTC	0.333																																							uc003fli.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(2029-2031)TAC>TAA		Rho family guanine-nucleotide exchange factor							95.0	100.0	99.0					3																	182947468		2203	4300	6503	SO:0001587	stop_gained	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182947468G>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2031C>A	3.37:g.182947468G>T	ENSP00000328118:p.Tyr677*					MCF2L2_uc003flj.1_Nonsense_Mutation_p.Y677*|MCF2L2_uc011bqr.1_RNA	p.Y677*	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		17	2121	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		677			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	ENST00000328913.3	37	c.2031C>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008981	0.75046	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025	.	.	.	5.06	-5.82	0.02333	.	0.082478	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.206	0.54353	0.5017:0.0:0.4983:0.0	.	.	.	.	X	677	.	ENSP00000328118:Y677X	Y	-	3	2	MCF2L2	184430162	0.189000	0.23263	0.848000	0.33437	0.549000	0.35272	-1.017000	0.03630	-1.535000	0.01740	-1.074000	0.02243	TAC		0.333	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		41	71	1	0	1.22674e-20	0.00874	1.98227e-20	41	71				
EPHB3	2049	broad.mit.edu	37	3	184290644	184290644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:184290644G>T	ENST00000330394.2	+	3	988	c.536G>T	c.(535-537)cGc>cTc	p.R179L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	179	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.R179L(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACCAAGGTGCGCAGCTTTGGG	0.602																																							uc003foz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(535-537)CGC>CTC		ephrin receptor EphB3 precursor							61.0	58.0	59.0					3																	184290644		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184290644G>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.536G>T	3.37:g.184290644G>T	ENSP00000332118:p.Arg179Leu						p.R179L	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		3	973	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		179			Extracellular (Potential).		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.536G>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537765	0.85917	.	.	ENSG00000182580	ENST00000330394	T	0.08984	3.03	5.27	5.27	0.74061	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00382	-1.1775	10	0.46703	T	0.11	.	17.8822	0.88843	0.0:0.0:1.0:0.0	.	179	P54753	EPHB3_HUMAN	L	179	ENSP00000332118:R179L	ENSP00000332118:R179L	R	+	2	0	EPHB3	185773338	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.864000	0.99589	2.445000	0.82738	0.561000	0.74099	CGC		0.602	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		13	21	1	0	4.36969e-10	0.001855	5.70256e-10	13	21				
LRRC15	131578	broad.mit.edu	37	3	194080235	194080236	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:194080235_194080236TC>AT	ENST00000347624.3	-	2	1622_1623	c.1537_1538GA>AT	c.(1537-1539)GAa>ATa	p.E513I	LRRC15_ENST00000428839.1_Missense_Mutation_p.E519I|LRRC15_ENST00000439944.2_Missense_Mutation_p.E519I	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	513					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.E513I(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGTGTAGTCTTCCACAGGGCTG	0.554																																							uc003ftu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1537-1539)GAA>ATA		leucine rich repeat containing 15 isoform b																																				SO:0001583	missense	131578					integral to membrane		g.chr3:194080235_194080236TC>AT	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1537_1538delinsAT	3.37:g.194080235_194080236delinsAT	ENSP00000306276:p.Glu513Ile					LRRC15_uc003ftt.2_Missense_Mutation_p.E519I	p.E513I	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1623_1624	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		513			Extracellular (Potential).		Q495Q6|Q7RTN7	Missense_Mutation	DNP	ENST00000347624.3	37	c.1537_1538GA>AT	CCDS3306.1																																																																																				0.554	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			21	38	0	0	0	0.004672	0	21	38				
TFRC	7037	broad.mit.edu	37	3	195794416	195794416	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:195794416G>C	ENST00000360110.4	-	9	1182	c.1013C>G	c.(1012-1014)tCc>tGc	p.S338C	TFRC_ENST00000420415.1_Missense_Mutation_p.S257C|TFRC_ENST00000392396.3_Missense_Mutation_p.S338C|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.S56C	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	338					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.S338C(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	AGCAGCTCTGGAGATTGTCTG	0.428			T	BCL6	NHL																																		uc003fvz.3		NA		Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1012-1014)TCC>TGC		transferrin receptor							112.0	103.0	106.0					3																	195794416		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195794416G>C	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1013C>G	3.37:g.195794416G>C	ENSP00000353224:p.Ser338Cys					TFRC_uc003fwa.3_Missense_Mutation_p.S338C|TFRC_uc010hzy.2_Missense_Mutation_p.S257C|TFRC_uc011btr.1_Missense_Mutation_p.S56C	p.S338C	NM_003234	NP_003225	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	9	1296	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		338			Extracellular (Potential).		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.1013C>G	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509974	0.64522	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.75260	2.74;2.74;2.74;-0.92	5.89	4.99	0.66335	.	0.202961	0.52532	D	0.000065	D	0.90310	0.6969	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.93363	0.6728	10	0.87932	D	0	-9.6805	15.5601	0.76237	0.0:0.1385:0.8615:0.0	.	338	P02786	TFR1_HUMAN	C	338;257;338;56	ENSP00000353224:S338C;ENSP00000390133:S257C;ENSP00000376197:S338C;ENSP00000437753:S56C	ENSP00000353224:S338C	S	-	2	0	TFRC	197278813	1.000000	0.71417	0.904000	0.35570	0.381000	0.30169	5.404000	0.66344	1.434000	0.47414	0.557000	0.71058	TCC		0.428	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			14	56	0	0	0	0.004007	0	14	56				
ZNF721	170960	broad.mit.edu	37	4	420484	420484	+	IGR	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:420484T>C	ENST00000506646.1	-	0	935				ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721						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(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AACTTCACTTTTTAACACAAA	0.393																																							uc003gae.2		NA																	0					0						c.(421-423)AAA>AGA		RecName: Full=Putative ATP-binding cassette sub-family A member 11;																																				SO:0001628	intergenic_variant	79963							g.chr4:420484T>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20			4.37:g.420484T>C						ABCA11P_uc003gac.2_Missense_Mutation_p.K90R|ABCA11P_uc003gad.2_RNA|ABCA11P_uc011buv.1_3'UTR|ABCA11P_uc010ibd.1_Missense_Mutation_p.K141R	p.K141R							5	957	-								Q69YG7	Missense_Mutation	SNP	ENST00000506646.1	37	c.422A>G																																																																																					0.393	ZNF721-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000357869.2	NM_133474		24	48	0	0	0	0.00278	0	24	48				
RNF212	285498	broad.mit.edu	37	4	1066813	1066813	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:1066813G>A	ENST00000433731.2	-	10	804	c.743C>T	c.(742-744)aCc>aTc	p.T248I	RNF212_ENST00000382968.5_Silent_p.H230H			Q495C1	RN212_HUMAN	ring finger protein 212	248					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.H230H(1)|p.T248I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TTTAGAGTTGGTGAGTTCCCC	0.527											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003gcj.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(742-744)ACC>ATC		ring finger protein 212 isoform a							115.0	111.0	112.0					4																	1066813		2203	4300	6503	SO:0001583	missense	285498						zinc ion binding	g.chr4:1066813G>A	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.743C>T	4.37:g.1066813G>A	ENSP00000389709:p.Thr248Ile		OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	593	RNF212_uc003gch.2_Intron|RNF212_uc003gci.2_Silent_p.H230H|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_3'UTR	p.T248I	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	10	1073	-			248					C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	37	c.743C>T	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	G	8.504	0.864963	0.17250	.	.	ENSG00000178222	ENST00000433731	T	0.51817	0.69	1.34	-2.69	0.06022	.	.	.	.	.	T	0.31263	0.0791	.	.	.	0.09310	N	0.999999	B	0.20671	0.047	B	0.10450	0.005	T	0.18555	-1.0333	8	0.87932	D	0	0.4259	3.579	0.07945	0.2906:0.4948:0.2146:0.0	.	248	Q495C1	RN212_HUMAN	I	248	ENSP00000389709:T248I	ENSP00000389709:T248I	T	-	2	0	RNF212	1056813	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.900000	0.04097	-1.319000	0.02286	-1.224000	0.01588	ACC		0.527	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		13	38	0	0	0	0.001368	0	13	38				
HS3ST1	9957	broad.mit.edu	37	4	11401268	11401268	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:11401268G>A	ENST00000002596.5	-	2	1536	c.362C>T	c.(361-363)cCc>cTc	p.P121L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	121					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)	p.P121L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GAAATACGCGGGGGTCTTCTC	0.612																																							uc003gmq.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(361-363)CCC>CTC		heparan sulfate D-glucosaminyl							70.0	70.0	70.0					4																	11401268		2203	4300	6503	SO:0001583	missense	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401268G>A	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.362C>T	4.37:g.11401268G>A	ENSP00000002596:p.Pro121Leu						p.P121L	NM_005114	NP_005105	O14792	HS3S1_HUMAN			2	685	-			121					B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	c.362C>T	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800334	0.90538	.	.	ENSG00000002587	ENST00000002596	T	0.61040	0.14	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.84951	0.5586	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89457	0.3734	10	0.87932	D	0	.	18.9896	0.92786	0.0:0.0:1.0:0.0	.	121	O14792	HS3S1_HUMAN	L	121	ENSP00000002596:P121L	ENSP00000002596:P121L	P	-	2	0	HS3ST1	11010366	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.813000	0.99286	2.793000	0.96121	0.655000	0.94253	CCC		0.612	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		22	58	0	0	0	0.012319	0	22	58				
LDB2	9079	broad.mit.edu	37	4	16597466	16597466	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:16597466T>C	ENST00000304523.5	-	3	591	c.268A>G	c.(268-270)Agc>Ggc	p.S90G	LDB2_ENST00000502640.1_Missense_Mutation_p.S90G|LDB2_ENST00000515064.1_Missense_Mutation_p.S90G|LDB2_ENST00000441778.2_Missense_Mutation_p.S90G|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000503178.2_5'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	90					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.S90G(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AACACAGTGCTAAAGTAACGG	0.498																																							uc003goz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(268-270)AGC>GGC		LIM domain binding 2 isoform a							86.0	73.0	78.0					4																	16597466		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16597466T>C	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.268A>G	4.37:g.16597466T>C	ENSP00000306772:p.Ser90Gly					LDB2_uc003gpa.2_Missense_Mutation_p.S90G|LDB2_uc003gpb.2_Missense_Mutation_p.S90G|LDB2_uc011bxh.1_Missense_Mutation_p.S90G|LDB2_uc010iee.2_Missense_Mutation_p.S90G|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR	p.S90G	NM_001290	NP_001281	O43679	LDB2_HUMAN			3	584	-			90					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.268A>G	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321409	0.41096	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000506732	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.63295	0.2499	N	0.22421	0.69	0.80722	D	1	D;P;P;P;P	0.53885	0.963;0.706;0.657;0.657;0.742	D;B;B;B;P	0.67231	0.95;0.348;0.431;0.409;0.566	T	0.65747	-0.6093	9	0.51188	T	0.08	-26.2114	15.2591	0.73606	0.0:0.0:0.0:1.0	.	56;90;90;90;90	B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679	.;.;.;.;LDB2_HUMAN	G	90;90;90;90;66	.	ENSP00000306772:S90G	S	-	1	0	LDB2	16206564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.254000	0.74563	0.460000	0.39030	AGC		0.498	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			4	37	0	0	0	0.000602	0	4	37				
BEND4	389206	broad.mit.edu	37	4	42145907	42145907	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:42145907T>A	ENST00000502486.1	-	3	1171	c.592A>T	c.(592-594)Att>Ttt	p.I198F	BEND4_ENST00000504360.1_Missense_Mutation_p.I194F	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	198								p.I194F(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ACGCAAGAAATCATGGACTGA	0.473																																							uc003gwn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(592-594)ATT>TTT		BEN domain containing 4 isoform a							70.0	67.0	68.0					4																	42145907		1921	4138	6059	SO:0001583	missense	389206							g.chr4:42145907T>A	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.592A>T	4.37:g.42145907T>A	ENSP00000421169:p.Ile198Phe					BEND4_uc003gwm.2_Missense_Mutation_p.I198F|BEND4_uc011byy.1_Missense_Mutation_p.I198F	p.I198F	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			3	1172	-			198					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.592A>T	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.902154	0.52227	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.72	3.3	0.37823	.	0.250321	0.39909	N	0.001234	T	0.34048	0.0884	N	0.24115	0.695	0.45097	D	0.99811	P;P;P	0.37276	0.589;0.454;0.589	B;B;B	0.32211	0.142;0.05;0.108	T	0.14587	-1.0467	9	0.72032	D	0.01	-8.9333	9.0663	0.36465	0.0:0.2066:0.0:0.7934	.	120;198;198	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	F	69;198;194	.	ENSP00000412495:I69F	I	-	1	0	BEND4	41840664	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	2.421000	0.44688	0.457000	0.26962	-0.290000	0.09829	ATT		0.473	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		9	13	0	0	0	0.006214	0	9	13				
EPHA5	2044	broad.mit.edu	37	4	66535311	66535311	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:66535311G>T	ENST00000273854.3	-	1	750	c.150C>A	c.(148-150)ctC>ctA	p.L50L	EPHA5_ENST00000511294.1_Silent_p.L50L|EPHA5_ENST00000432638.2_Silent_p.L50L|RP11-807H7.1_ENST00000509473.1_lincRNA|EPHA5_ENST00000354839.4_Silent_p.L50L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	50					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)	p.L50L(1)		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						GGAGGGTCCGGAGTGCGGCGC	0.726										TSP Lung(17;0.13)																													uc003hcy.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(148-150)CTC>CTA		ephrin receptor EphA5 isoform a precursor							14.0	16.0	15.0					4																	66535311		2182	4277	6459	SO:0001819	synonymous_variant	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.chr4:66535311G>T	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.150C>A	4.37:g.66535311G>T		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_5'Flank|EPHA5_uc003hcz.2_Silent_p.L50L|EPHA5_uc011cah.1_Silent_p.L50L|EPHA5_uc011cai.1_Silent_p.L50L|EPHA5_uc003hda.2_Silent_p.L50L|uc003hdb.2_5'Flank	p.L50L	NM_004439	NP_004430	P54756	EPHA5_HUMAN			1	343	-			50			Extracellular (Potential).		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.150C>A	CCDS3513.1																																																																																				0.726	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		15	16	1	0	4.63292e-17	0.008871	7.0052e-17	15	16				
UBA6	55236	broad.mit.edu	37	4	68562390	68562390	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:68562390G>C	ENST00000322244.5	-	2	166	c.107C>G	c.(106-108)tCt>tGt	p.S36C	UBA6_ENST00000420827.2_Missense_Mutation_p.S36C	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	36					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.S36C(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GATTTCCACAGATGCTGTTGA	0.284																																							uc003hdg.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(106-108)TCT>TGT		ubiquitin-activating enzyme E1-like 2							88.0	86.0	87.0					4																	68562390		2202	4296	6498	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68562390G>C	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.107C>G	4.37:g.68562390G>C	ENSP00000313454:p.Ser36Cys					UBA6_uc003hdi.2_Missense_Mutation_p.S36C|UBA6_uc003hdj.2_Missense_Mutation_p.S36C	p.S36C	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			2	159	-			36					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.107C>G	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050940	0.55218	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.65732	0.86;-0.17	4.9	4.05	0.47172	NAD(P)-binding domain (1);	0.165190	0.56097	D	0.000033	T	0.66479	0.2793	L	0.42245	1.32	0.50313	D	0.99986	D;D;D	0.67145	0.996;0.996;0.98	P;P;P	0.59288	0.794;0.855;0.533	T	0.68462	-0.5402	10	0.62326	D	0.03	-9.6656	10.7378	0.46135	0.0:0.0:0.8102:0.1898	.	36;36;36	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	C	36	ENSP00000313454:S36C;ENSP00000399234:S36C	ENSP00000313454:S36C	S	-	2	0	UBA6	68244985	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	0.639000	0.24690	1.401000	0.46761	0.561000	0.74099	TCT		0.284	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		19	37	0	0	0	0.010504	0	19	37				
TMPRSS11F	389208	broad.mit.edu	37	4	68938049	68938049	+	Missense_Mutation	SNP	C	C	G	rs150716612	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:68938049C>G	ENST00000356291.2	-	5	565	c.506G>C	c.(505-507)aGa>aCa	p.R169T	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	169	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.R169T(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACGTGTGAGTCTAAATGATGG	0.284																																							uc003hdt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(505-507)AGA>ACA		transmembrane protease, serine 11F							75.0	77.0	76.0					4																	68938049		2203	4298	6501	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68938049C>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.506G>C	4.37:g.68938049C>G	ENSP00000348639:p.Arg169Thr					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.R169T	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			5	555	-			169			SEA.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.506G>C	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	8.224	0.803123	0.16397	.	.	ENSG00000198092	ENST00000356291	T	0.31510	1.49	6.06	-3.61	0.04556	SEA (2);	0.960549	0.08642	N	0.915407	T	0.08846	0.0219	N	0.01048	-1.04	0.22571	N	0.99898	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.16896	T	0.51	.	9.0677	0.36473	0.0:0.252:0.487:0.261	.	169	Q6ZWK6	TM11F_HUMAN	T	169	ENSP00000348639:R169T	ENSP00000348639:R169T	R	-	2	0	TMPRSS11F	68620644	0.548000	0.26473	0.467000	0.27180	0.813000	0.45954	-0.566000	0.05922	-0.600000	0.05790	0.650000	0.86243	AGA		0.284	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		28	17	0	0	0	0.009535	0	28	17				
UGT2B15	7366	broad.mit.edu	37	4	69513061	69513061	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:69513061C>T	ENST00000338206.5	-	6	1363	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	452					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.D452Y(1)|p.D452N(1)								Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	ATTGGTTGGTCATGATGAATT	0.388																																							uc011cal.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1354-1356)GAC>AAC		UDP glycosyltransferase 2B15 precursor							115.0	121.0	119.0					4																	69513061		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69513061C>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1354G>A	4.37:g.69513061C>T	ENSP00000341045:p.Asp452Asn						p.D452N	NM_001076	NP_001067	P54855	UDB15_HUMAN			6	1392	-			452					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.1354G>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	15.25	2.778824	0.49891	.	.	ENSG00000196620	ENST00000338206	T	0.72942	-0.7	2.96	2.11	0.27256	.	0.000000	0.64402	U	0.000001	T	0.80701	0.4673	M	0.86268	2.805	0.29150	N	0.878475	D	0.58268	0.982	P	0.61275	0.886	T	0.74808	-0.3539	10	0.87932	D	0	.	7.5946	0.28041	0.0:0.8657:0.0:0.1343	.	452	P54855	UDB15_HUMAN	N	452	ENSP00000341045:D452N	ENSP00000341045:D452N	D	-	1	0	UGT2B15	69195656	0.998000	0.40836	0.127000	0.21898	0.440000	0.31957	4.172000	0.58243	0.445000	0.26639	0.552000	0.68991	GAC		0.388	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		33	114	0	0	0	0.003271	0	33	114				
IGJ	3512	broad.mit.edu	37	4	71532144	71532144	+	Splice_Site	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:71532144C>G	ENST00000254801.4	-	1	233	c.64G>C	c.(64-66)Gcc>Ccc	p.A22P	ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Splice_Site_p.G22R	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	22					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)	p.A22P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TATCACATACCTTTCACATGA	0.363																																							uc003hfn.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(64-66)GCC>CCC		immunoglobulin J chain							71.0	71.0	71.0					4																	71532144		2203	4300	6503	SO:0001630	splice_region_variant	3512				immune response	extracellular region	antigen binding	g.chr4:71532144C>G	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"""Immunoglobulins / IGJ linker"""	5713	protein-coding gene	gene with protein product	"""immunoglobulin J chain"", ""IgJ chain"""	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.64+1G>C	4.37:g.71532144C>G						IGJ_uc010ihz.2_Missense_Mutation_p.G22R	p.A22P	NM_144646	NP_653247	P01591	IGJ_HUMAN	Lung(101;0.235)		1	205	-			22						Missense_Mutation	SNP	ENST00000254801.4	37	c.64G>C	CCDS3545.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.88|18.88|18.88	3.717030|3.717030|3.717030	0.68844|0.68844|0.68844	.|.|.	.|.|.	ENSG00000132465|ENSG00000132465|ENSG00000132465	ENST00000254801;ENST00000510437;ENST00000470866|ENST00000510614|ENST00000543780;ENST00000391614	.|.|.	.|.|.	.|.|.	5.78|5.78|5.78	5.78|5.78|5.78	0.91487|0.91487|0.91487	.|.|.	0.433861|.|.	0.21833|.|.	N|.|.	0.068441|.|.	T|T|T	0.45236|0.45236|0.45236	0.1332|0.1332|0.1332	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.28221|0.28221|0.28221	N|N|N	0.926503|0.926503|0.926503	D|.|D	0.76494|.|0.69078	0.999|.|0.997	D|.|D	0.70016|.|0.72982	0.967|.|0.979	T|T|T	0.46569|0.46569|0.46569	-0.9182|-0.9182|-0.9182	8|5|7	.|.|.	.|.|.	.|.|.	.|.|.	16.9371|16.9371|16.9371	0.86205|0.86205|0.86205	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	22|.|22	P01591|.|D6RHJ6	IGJ_HUMAN|.|.	P|Q|R	22|22|22	.|.|.	.|.|.	A|E|G	-|-|-	1|1|1	0|0|0	IGJ|IGJ|IGJ	71751008|71751008|71751008	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.532000|0.532000|0.532000	0.34746|0.34746|0.34746	4.393000|4.393000|4.393000	0.59665|0.59665|0.59665	2.730000|2.730000|2.730000	0.93505|0.93505|0.93505	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCC|GAA|GGT		0.363	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646	Missense_Mutation	23	36	0	0	0	0.004656	0	23	36				
AFP	174	broad.mit.edu	37	4	74313357	74313357	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:74313357A>G	ENST00000395792.2	+	8	1122	c.1022A>G	c.(1021-1023)cAa>cGa	p.Q341R	AFP_ENST00000226359.2_Missense_Mutation_p.Q341R	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	341	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)	p.Q341R(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATTTTAACCAATTTTCTTCA	0.353									Alpha-Fetoprotein, Hereditary Persistence of																														uc003hgz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1021-1023)CAA>CGA		alpha-fetoprotein precursor							33.0	34.0	34.0					4																	74313357		2203	4299	6502	SO:0001583	missense	174	Alpha-Fetoprotein_Hereditary_Persistence_of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74313357A>G	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1022A>G	4.37:g.74313357A>G	ENSP00000379138:p.Gln341Arg					AFP_uc003hha.1_Missense_Mutation_p.Q341R|AFP_uc011cbg.1_Missense_Mutation_p.Q115R	p.Q341R	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1069	+	Breast(15;0.00102)		341			Albumin 2.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.1022A>G	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718531	0.30503	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.74632	-0.86;-0.86	5.55	1.53	0.23141	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.323633	0.25601	N	0.029544	T	0.68035	0.2957	M	0.76328	2.33	0.09310	N	1	B;B	0.18461	0.019;0.028	B;B	0.19946	0.022;0.027	T	0.62779	-0.6782	10	0.72032	D	0.01	.	3.8426	0.08920	0.553:0.0:0.091:0.356	.	183;341	B4DMX4;P02771	.;FETA_HUMAN	R	341	ENSP00000379138:Q341R;ENSP00000226359:Q341R	ENSP00000226359:Q341R	Q	+	2	0	AFP	74532221	0.010000	0.17322	0.038000	0.18304	0.959000	0.62525	2.433000	0.44793	0.525000	0.28522	0.533000	0.62120	CAA		0.353	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			13	23	0	0	0	0.00499	0	13	23				
WDFY3	23001	broad.mit.edu	37	4	85724621	85724621	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:85724621C>A	ENST00000295888.4	-	16	2837		c.e16-1		WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Splice_Site|WDFY3_ENST00000512267.1_Splice_Site	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3						aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.?(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATATGCATGCCTATAAAAAAA	0.368																																							uc003hpd.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.e16-1		WD repeat and FYVE domain containing 3 isoform							58.0	57.0	58.0					4																	85724621		2203	4300	6503	SO:0001630	splice_region_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85724621C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2430-1G>T	4.37:g.85724621C>A							p.R810_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	16	2838	-		Hepatocellular(203;0.114)						Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Splice_Site	SNP	ENST00000295888.4	37	c.2430_splice	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101116	0.37048	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDFY3	85943645	1.000000	0.71417	0.996000	0.52242	0.183000	0.23260	7.336000	0.79245	2.712000	0.92718	0.650000	0.86243	.		0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	Intron	20	35	1	0	3.62473e-10	0.012319	4.74682e-10	20	35				
UNC5C	8633	broad.mit.edu	37	4	96140382	96140382	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:96140382G>T	ENST00000453304.1	-	9	1731	c.1383C>A	c.(1381-1383)gaC>gaA	p.D461E	UNC5C_ENST00000506749.1_Missense_Mutation_p.D480E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	461					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.D461E(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTGGGATTTTGTCTGAGACGT	0.512																																							uc003htp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1381-1383)GAC>GAA		unc5C precursor							337.0	325.0	329.0					4																	96140382		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140382G>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1383C>A	4.37:g.96140382G>T	ENSP00000406022:p.Asp461Glu					UNC5C_uc010ilc.1_Missense_Mutation_p.D480E|UNC5C_uc003htq.2_Missense_Mutation_p.D480E	p.D461E	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1537	-		Hepatocellular(203;0.114)	461			Cytoplasmic (Potential).		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1383C>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434031	0.43224	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.56941	0.76;0.44;0.43	5.21	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	M	0.69823	2.125	0.80722	D	1	P;P;B	0.43431	0.599;0.807;0.451	B;B;B	0.38106	0.265;0.192;0.137	T	0.48570	-0.9024	10	0.46703	T	0.11	.	6.3878	0.21569	0.3169:0.0:0.6831:0.0	.	461;480;461	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	E	461;420;480;480	ENSP00000406022:D461E;ENSP00000426924:D480E;ENSP00000426153:D480E	ENSP00000328673:D420E	D	-	3	2	UNC5C	96359405	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.220000	0.42908	1.209000	0.43321	-0.136000	0.14681	GAC		0.512	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		76	206	1	0	2.02726e-29	0.00361	3.5834e-29	76	206				
SLC9B1	150159	broad.mit.edu	37	4	103911057	103911057	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:103911057T>A	ENST00000296422.7	-	3	252	c.111A>T	c.(109-111)aaA>aaT	p.K37N	SLC9B1_ENST00000394789.3_Missense_Mutation_p.K37N	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	37					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.K37N(1)									ATAAGACAGTTTTAGTTTCTT	0.299																																							uc003hww.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(109-111)AAA>AAT		Na+/H+ exchanger domain containing 1 isoform 1							161.0	143.0	149.0					4																	103911057		2201	4291	6492	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103911057T>A	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.111A>T	4.37:g.103911057T>A	ENSP00000296422:p.Lys37Asn					NHEDC1_uc003hwu.2_Missense_Mutation_p.K37N|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_Intron	p.K37N	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	3	233	-		Hepatocellular(203;0.217)	37					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.111A>T	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.350253	0.24512	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000514340;ENST00000452285;ENST00000510559	T;T;T;T	0.64085	2.15;2.17;1.52;-0.08	3.32	0.738	0.18319	.	4.139200	0.00855	N	0.001873	T	0.45875	0.1364	L	0.29908	0.895	0.09310	N	1	B;P	0.43352	0.346;0.804	B;B	0.34489	0.077;0.184	T	0.37619	-0.9698	10	0.17369	T	0.5	-7.0114	7.5273	0.27662	0.0:0.0:0.4432:0.5568	.	37;37	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	N	37	ENSP00000378269:K37N;ENSP00000296422:K37N;ENSP00000426056:K37N;ENSP00000426325:K37N	ENSP00000296422:K37N	K	-	3	2	SLC9B1	104130506	0.000000	0.05858	0.007000	0.13788	0.030000	0.12068	0.356000	0.20181	0.168000	0.19655	0.528000	0.53228	AAA		0.299	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		6	23	0	0	0	0.001984	0	6	23				
ARSJ	79642	broad.mit.edu	37	4	114823441	114823441	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:114823441T>A	ENST00000315366.7	-	2	2655	c.1789A>T	c.(1789-1791)Act>Tct	p.T597S	ARSJ_ENST00000541197.1_Intron	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	597				STCHSGVTCG -> KPANLAR (in Ref. 2; CAJ18095 and 3; AAQ89010). {ECO:0000305}.	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)	p.T597S(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TATCCACAAGTAACACCTGAA	0.358																																							uc003ibq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1789-1791)ACT>TCT		arylsulfatase J precursor							72.0	67.0	69.0					4																	114823441		1876	4106	5982	SO:0001583	missense	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114823441T>A		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1789A>T	4.37:g.114823441T>A	ENSP00000320219:p.Thr597Ser					ARSJ_uc010imu.1_Intron	p.T597S	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	2677	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	597	STCHSGVTCG -> KPANLAR (in Ref. 2).				A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.1789A>T	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	T	6.492	0.458940	0.12342	.	.	ENSG00000180801	ENST00000315366;ENST00000545965	D	0.96913	-4.17	5.23	-10.5	0.00291	.	5.699380	0.01007	U	0.003766	D	0.87301	0.6143	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.74179	-0.3749	10	0.30078	T	0.28	.	3.0897	0.06290	0.3099:0.2175:0.3726:0.1	.	597	Q5FYB0	ARSJ_HUMAN	S	597;166	ENSP00000320219:T597S	ENSP00000320219:T597S	T	-	1	0	ARSJ	115042890	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.388000	0.02533	-5.581000	0.00012	-1.444000	0.01066	ACT		0.358	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		9	92	0	0	0	0.004482	0	9	92				
SEC24D	9871	broad.mit.edu	37	4	119686060	119686060	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:119686060T>C	ENST00000280551.6	-	10	1431	c.1193A>G	c.(1192-1194)tAt>tGt	p.Y398C	SEC24D_ENST00000511481.1_Missense_Mutation_p.Y29C|SEC24D_ENST00000379735.5_Missense_Mutation_p.Y399C|SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000505134.1_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	398					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.Y398C(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATGTTGGAAATAGAATGGTGG	0.318																																							uc003ici.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1192-1194)TAT>TGT		Sec24-related protein D							99.0	100.0	100.0					4																	119686060		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119686060T>C	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1193A>G	4.37:g.119686060T>C	ENSP00000280551:p.Tyr398Cys					SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.Y399C|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA	p.Y398C	NM_014822	NP_055637	O94855	SC24D_HUMAN			10	1465	-			398					Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.1193A>G	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860727	0.71834	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000511481	D;D;D	0.83837	-1.77;-1.77;-1.77	5.56	5.56	0.83823	Zinc finger, Sec23/Sec24-type (1);	0.055957	0.64402	D	0.000001	D	0.93880	0.8042	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95254	0.8362	10	0.87932	D	0	-16.9695	11.7722	0.51965	0.1391:0.0:0.0:0.8609	.	399;398	O94855-2;O94855	.;SC24D_HUMAN	C	398;399;29	ENSP00000280551:Y398C;ENSP00000369059:Y399C;ENSP00000425491:Y29C	ENSP00000280551:Y398C	Y	-	2	0	SEC24D	119905508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.290000	0.72712	2.244000	0.73946	0.477000	0.44152	TAT		0.318	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			20	104	0	0	0	0.007413	0	20	104				
TRPC3	7222	broad.mit.edu	37	4	122853835	122853835	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:122853835G>A	ENST00000379645.3	-	2	651	c.578C>T	c.(577-579)gCc>gTc	p.A193V	TRPC3_ENST00000513531.1_Missense_Mutation_p.A120V|TRPC3_ENST00000264811.5_Missense_Mutation_p.A120V	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	108					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.A120V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTTGAGGATGGCCTCTACGAT	0.632																																							uc003ieg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(577-579)GCC>GTC		transient receptor potential cation channel,							83.0	71.0	75.0					4																	122853835		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122853835G>A	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.578C>T	4.37:g.122853835G>A	ENSP00000368966:p.Ala193Val					TRPC3_uc010inr.2_Missense_Mutation_p.A120V|TRPC3_uc003ief.2_Missense_Mutation_p.A120V|TRPC3_uc011cgl.1_5'UTR	p.A193V	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			2	652	-			108			Cytoplasmic (Potential).|ANK 3.		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.578C>T	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153874	0.94645	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.63744	-0.06;-0.06;-0.06	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	L	0.28694	0.88	0.80722	D	1	P;P	0.52061	0.566;0.95	P;P	0.57502	0.531;0.822	T	0.54853	-0.8231	10	0.02654	T	1	-0.488	20.0804	0.97772	0.0:0.0:1.0:0.0	.	120;193	E9PCJ9;Q5G1L5	.;.	V	120;193;120	ENSP00000264811:A120V;ENSP00000368966:A193V;ENSP00000426899:A120V	ENSP00000264811:A120V	A	-	2	0	TRPC3	123073285	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.787000	0.99055	2.738000	0.93877	0.655000	0.94253	GCC		0.632	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		23	11	0	0	0	0.012319	0	23	11				
FAT4	79633	broad.mit.edu	37	4	126240058	126240058	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:126240058C>G	ENST00000394329.3	+	1	2505	c.2492C>G	c.(2491-2493)aCt>aGt	p.T831S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	831	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T831S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATCTCATTACTACTGGGGAT	0.443																																							uc003ifj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(2491-2493)ACT>AGT		FAT tumor suppressor homolog 4 precursor							129.0	124.0	126.0					4																	126240058		1993	4157	6150	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240058C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2492C>G	4.37:g.126240058C>G	ENSP00000377862:p.Thr831Ser						p.T831S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	2492	+			831			Extracellular (Potential).|Cadherin 8.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2492C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990818	0.35131	.	.	ENSG00000196159	ENST00000394329	T	0.02787	4.16	5.13	5.13	0.70059	Cadherin (4);Cadherin-like (1);	0.000000	0.35262	U	0.003332	T	0.04588	0.0125	N	0.03983	-0.305	0.80722	D	1	P	0.50943	0.94	P	0.62298	0.9	T	0.69734	-0.5065	10	0.21014	T	0.42	.	18.603	0.91256	0.0:1.0:0.0:0.0	.	831	Q6V0I7	FAT4_HUMAN	S	831	ENSP00000377862:T831S	ENSP00000377862:T831S	T	+	2	0	FAT4	126459508	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	5.942000	0.70203	2.396000	0.81511	0.655000	0.94253	ACT		0.443	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	171	0	0	0	0.000602	0	5	171				
LARP1B	55132	broad.mit.edu	37	4	129012285	129012285	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:129012285G>T	ENST00000326639.6	+	6	699	c.488G>T	c.(487-489)aGa>aTa	p.R163I	LARP1B_ENST00000512292.1_Missense_Mutation_p.R163I|LARP1B_ENST00000264584.5_Missense_Mutation_p.R116I|LARP1B_ENST00000394288.3_Missense_Mutation_p.R163I|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000432347.2_Missense_Mutation_p.R163I|LARP1B_ENST00000427266.1_Missense_Mutation_p.R163I|LARP1B_ENST00000441387.1_Missense_Mutation_p.R163I	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	163	Arg-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R163I(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGACGAGGCAGAGGAAATCCT	0.398																																							uc003iga.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(487-489)AGA>ATA		La ribonucleoprotein domain family member 2							122.0	131.0	128.0					4																	129012285		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129012285G>T		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.488G>T	4.37:g.129012285G>T	ENSP00000321997:p.Arg163Ile					LARP1B_uc003ifw.1_Missense_Mutation_p.R116I|LARP1B_uc003ifx.2_Missense_Mutation_p.R163I|LARP1B_uc003ify.2_Missense_Mutation_p.R163I|LARP1B_uc003ifz.1_Missense_Mutation_p.R163I	p.R163I	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			6	619	+			163			Arg-rich.		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.488G>T	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.413329|4.413329	0.83449|0.83449	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000507377|ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266	.|T;T;T;T;T;T;T;T	.|0.56103	.|1.62;1.15;1.18;0.52;0.48;1.65;1.59;1.14	3.93|3.93	3.93|3.93	0.45458|0.45458	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.70500|0.70500	0.3231|0.3231	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.995;0.997;0.997;0.997	T|T	0.75476|0.75476	-0.3304|-0.3304	5|10	.|0.72032	.|D	.|0.01	.|.	16.5241|16.5241	0.84326|0.84326	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|163;163;163;163	.|Q659C4;G3XAJ5;Q659C4-3;G3V0E9	.|LAR1B_HUMAN;.;.;.	H|I	131|163;163;116;163;163;116;163;163	.|ENSP00000321997:R163I;ENSP00000422850:R163I;ENSP00000427281:R116I;ENSP00000377829:R163I;ENSP00000390395:R163I;ENSP00000264584:R116I;ENSP00000396521:R163I;ENSP00000403586:R163I	.|ENSP00000264584:R116I	Q|R	+|+	3|2	2|0	LARP1B|LARP1B	129231735|129231735	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.116000|7.116000	0.77119|0.77119	2.194000|2.194000	0.70268|0.70268	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.398	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		18	167	1	0	1.67942e-08	0.006122	2.09371e-08	18	167				
GAB1	2549	broad.mit.edu	37	4	144359508	144359508	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:144359508A>G	ENST00000262994.4	+	4	1252	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	GAB1_ENST00000262995.4_Missense_Mutation_p.Y317C|GAB1_ENST00000505913.1_Missense_Mutation_p.Y214C	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	317					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.Y317C(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GGTAATACTTATCAGATTCCA	0.433																																							uc003ije.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)|skin(1)	4						c.(949-951)TAT>TGT		GRB2-associated binding protein 1 isoform b							105.0	94.0	97.0					4																	144359508		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144359508A>G	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.950A>G	4.37:g.144359508A>G	ENSP00000262994:p.Tyr317Cys					GAB1_uc003ijd.2_Missense_Mutation_p.Y317C|GAB1_uc011chq.1_Missense_Mutation_p.Y214C	p.Y317C	NM_002039	NP_002030	Q13480	GAB1_HUMAN			4	1309	+	all_hematologic(180;0.158)		317					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.950A>G	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307037	0.81247	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.44482	0.92;0.92;0.92	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.69764	-0.5057	10	0.87932	D	0	-5.9226	16.1549	0.81657	1.0:0.0:0.0:0.0	.	317;317	Q13480;Q13480-2	GAB1_HUMAN;.	C	317;317;214	ENSP00000262995:Y317C;ENSP00000262994:Y317C;ENSP00000424554:Y214C	ENSP00000262994:Y317C	Y	+	2	0	GAB1	144578958	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.690000	0.91272	2.209000	0.71365	0.533000	0.62120	TAT		0.433	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		16	113	0	0	0	0.003163	0	16	113				
PRMT9	90826	broad.mit.edu	37	4	148589703	148589703	+	Missense_Mutation	SNP	T	T	C	rs376530430		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:148589703T>C	ENST00000322396.6	-	6	1182	c.940A>G	c.(940-942)Aga>Gga	p.R314G	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.R201G	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		314	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.R314G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TGATGTCTTCTTATCTCTGCA	0.363																																							uc003ilc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(940-942)AGA>GGA		protein arginine methyltransferase 10		T	GLY/ARG	1,4403	2.1+/-5.4	0,1,2201	128.0	118.0	122.0		940	0.8	1.0	4		122	0,8600		0,0,4300	no	missense	PRMT10	NM_138364.2	125	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	314/846	148589703	1,13003	2202	4300	6502	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148589703T>C																												ENST00000322396.6:c.940A>G	4.37:g.148589703T>C	ENSP00000314396:p.Arg314Gly					PRMT10_uc003ild.2_Missense_Mutation_p.R201G	p.R314G	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN			6	1082	-			314					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.940A>G	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678931	0.68042	2.27E-4	0.0	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.61980	0.06;0.06	5.9	0.769	0.18492	.	0.000000	0.85682	D	0.000000	T	0.79088	0.4387	M	0.83953	2.67	0.49687	D	0.999814	D	0.89917	1.0	D	0.83275	0.996	T	0.81957	-0.0695	10	0.62326	D	0.03	-9.7928	15.7846	0.78291	0.0:0.0:0.5748:0.4252	.	314	Q6P2P2	ANM10_HUMAN	G	314;201	ENSP00000314396:R314G;ENSP00000439508:R201G	ENSP00000314396:R314G	R	-	1	2	PRMT10	148809153	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	2.104000	0.41815	0.117000	0.18138	0.372000	0.22366	AGA		0.363	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			21	34	0	0	0	0.004656	0	21	34				
KIAA0922	23240	broad.mit.edu	37	4	154548817	154548817	+	Silent	SNP	C	C	T	rs543922994		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:154548817C>T	ENST00000409663.3	+	31	4234	c.4182C>T	c.(4180-4182)ccC>ccT	p.P1394P	KIAA0922_ENST00000440693.1_Silent_p.P1311P|KIAA0922_ENST00000409959.3_Silent_p.P1395P	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1394						integral component of membrane (GO:0016021)		p.P1395P(1)|p.P1247P(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGCCGGGCCCACAGGTGTTG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		19844	0.001		0.0	False		,,,				2504	0.0						uc003inm.3		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(4180-4182)CCC>CCT		hypothetical protein LOC23240 isoform 2							91.0	78.0	82.0					4																	154548817		2203	4300	6503	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154548817C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4182C>T	4.37:g.154548817C>T						KIAA0922_uc010ipp.2_Silent_p.P1395P|KIAA0922_uc010ipq.2_Silent_p.P1163P	p.P1394P	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			31	4234	+	all_hematologic(180;0.093)	Renal(120;0.118)	1394			Cytoplasmic (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.4182C>T	CCDS3783.2																																																																																				0.517	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		5	18	0	0	0	0.00308	0	5	18				
TMEM144	55314	broad.mit.edu	37	4	159174649	159174649	+	Silent	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:159174649A>G	ENST00000296529.6	+	13	1528	c.1008A>G	c.(1006-1008)ggA>ggG	p.G336G	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	336						integral component of membrane (GO:0016021)		p.G336G(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TCTTGACTGGAGCCTTATGCA	0.393																																							uc003ipx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1006-1008)GGA>GGG		transmembrane protein 144							152.0	146.0	148.0					4																	159174649		2203	4300	6503	SO:0001819	synonymous_variant	55314					integral to membrane		g.chr4:159174649A>G	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.1008A>G	4.37:g.159174649A>G						TMEM144_uc010iqi.2_RNA	p.G336G	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	13	1528	+	all_hematologic(180;0.24)	Renal(120;0.0854)	336			Helical; (Potential).		D3DP24|Q49A05|Q9NUT3	Silent	SNP	ENST00000296529.6	37	c.1008A>G	CCDS3799.1																																																																																				0.393	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		23	82	0	0	0	0.004656	0	23	82				
FSTL5	56884	broad.mit.edu	37	4	162380415	162380415	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:162380415C>A	ENST00000306100.5	-	14	2101	c.1665G>T	c.(1663-1665)caG>caT	p.Q555H	FSTL5_ENST00000427802.2_Missense_Mutation_p.Q545H|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q554H|FSTL5_ENST00000536695.1_Missense_Mutation_p.Q554H	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	555						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.Q555H(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCACCCAGACCTGATCATGTG	0.363																																							uc003iqh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1663-1665)CAG>CAT		follistatin-like 5 isoform a							133.0	123.0	127.0					4																	162380415		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162380415C>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1665G>T	4.37:g.162380415C>A	ENSP00000305334:p.Gln555His					FSTL5_uc003iqi.2_Missense_Mutation_p.Q554H|FSTL5_uc010iqv.2_Missense_Mutation_p.Q545H	p.Q555H	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	14	2101	-	all_hematologic(180;0.24)		555					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1665G>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	c	18.13	3.555585	0.65425	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.36	1.68	0.24146	WD40/YVTN repeat-like-containing domain (1);	0.052139	0.85682	D	0.000000	T	0.52419	0.1733	M	0.81112	2.525	0.47245	D	0.99936	D;D;D	0.89917	0.998;1.0;0.998	D;D;P	0.79784	0.993;0.991;0.896	T	0.51196	-0.8736	10	0.87932	D	0	.	9.2858	0.37755	0.0:0.6085:0.0:0.3915	.	545;554;555	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	H	555;554;545;554	ENSP00000305334:Q555H;ENSP00000368462:Q554H;ENSP00000389270:Q545H;ENSP00000440409:Q554H	ENSP00000305334:Q555H	Q	-	3	2	FSTL5	162599865	0.870000	0.30015	0.995000	0.50966	0.952000	0.60782	-0.007000	0.12810	0.063000	0.16370	0.645000	0.84053	CAG		0.363	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		44	24	1	0	1.17673e-23	0.00361	1.96906e-23	44	24				
MARCH1	55016	broad.mit.edu	37	4	165118707	165118707	+	Intron	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:165118707C>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G53C(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGGTGAGGCCTCCGTTGATT	0.443																																							uc011cjk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GGC>TGC		acidic nuclear phosphoprotein 32C							118.0	118.0	118.0					4																	165118707		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118707C>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85893G>T	4.37:g.165118707C>A						MARCH1_uc003iqs.1_Intron	p.G53C	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	157	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	53			LRR 1.		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.157G>T	CCDS54814.1																																																																																				0.443	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		37	112	1	0	5.43694e-19	0.005524	8.50957e-19	37	112				
ANXA10	11199	broad.mit.edu	37	4	169105768	169105768	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:169105768A>T	ENST00000359299.3	+	11	1028	c.842A>T	c.(841-843)gAc>gTc	p.D281V		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	281						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.D281V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGTGAAATAGACCTGCTGACC	0.373																																							uc003irm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(841-843)GAC>GTC		annexin A10							171.0	174.0	173.0					4																	169105768		2203	4300	6503	SO:0001583	missense	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169105768A>T	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.842A>T	4.37:g.169105768A>T	ENSP00000352248:p.Asp281Val					ANXA10_uc003irn.2_Missense_Mutation_p.D153V	p.D281V	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	11	987	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	281			Annexin 4.		Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	37	c.842A>T	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118495	0.77323	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.04156	3.69	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000003	T	0.30727	0.0774	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.91635	0.798;0.999	T	0.31916	-0.9926	10	0.87932	D	0	.	16.2058	0.82131	1.0:0.0:0.0:0.0	.	153;281	Q6ITU8;Q9UJ72	.;ANX10_HUMAN	V	281	ENSP00000352248:D281V	ENSP00000352248:D281V	D	+	2	0	ANXA10	169342343	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	6.513000	0.73742	2.227000	0.72691	0.533000	0.62120	GAC		0.373	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		59	74	0	0	0	0.00361	0	59	74				
PALLD	23022	broad.mit.edu	37	4	169632955	169632955	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:169632955C>T	ENST00000505667.1	+	10	2018	c.1845C>T	c.(1843-1845)ccC>ccT	p.P615P	PALLD_ENST00000335742.7_Silent_p.P233P|PALLD_ENST00000261509.6_Silent_p.P615P|PALLD_ENST00000512127.1_Silent_p.P233P			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	615					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.P615P(1)|p.P233P(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAGTCCATCCCAGCCGTGGAG	0.512									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1843-1845)CCC>CCT		palladin isoform 2							84.0	81.0	82.0					4																	169632955		2203	4300	6503	SO:0001819	synonymous_variant	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169632955C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1845C>T	4.37:g.169632955C>T						PALLD_uc003iru.2_Silent_p.P615P|PALLD_uc003irv.2_Silent_p.P233P	p.P615P	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	10	2056	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	615					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	c.1845C>T	CCDS54818.1																																																																																				0.512	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		15	39	0	0	0	0.00245	0	15	39				
FRG1	2483	broad.mit.edu	37	4	190878613	190878613	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:190878613A>G	ENST00000226798.4	+	6	715	c.493A>G	c.(493-495)Ata>Gta	p.I165V	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	165					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.I165V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGCAGGGGACATAGAAGCAAA	0.378																																							uc003izs.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(493-495)ATA>GTA		FSHD region gene 1							47.0	45.0	46.0					4																	190878613		2184	4280	6464	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878613A>G	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.493A>G	4.37:g.190878613A>G	ENSP00000226798:p.Ile165Val						p.I165V	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	684	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	165					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.493A>G	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	9.989	1.230256	0.22542	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.44083	2.04;0.93	4.19	2.9	0.33743	Actin cross-linking (1);	0.044674	0.85682	D	0.000000	T	0.36799	0.0980	L	0.57536	1.79	0.47065	D	0.999307	B	0.18013	0.025	B	0.33196	0.159	T	0.15983	-1.0418	10	0.22706	T	0.39	-20.6798	5.2679	0.15609	0.6522:0.1763:0.0:0.1715	.	165	Q14331	FRG1_HUMAN	V	165;37;102	ENSP00000226798:I165V;ENSP00000435943:I102V	ENSP00000226798:I165V	I	+	1	0	FRG1	191115607	1.000000	0.71417	0.998000	0.56505	0.646000	0.38490	5.842000	0.69417	1.677000	0.50941	0.373000	0.22412	ATA		0.378	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	43	0	0	0	0.001168	0	3	43				
FBXL7	23194	broad.mit.edu	37	5	15928457	15928457	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:15928457T>A	ENST00000504595.1	+	3	1067	c.586T>A	c.(586-588)Tgc>Agc	p.C196S	FBXL7_ENST00000510662.1_Missense_Mutation_p.C149S|FBXL7_ENST00000329673.7_Missense_Mutation_p.C184S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	196					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.C196S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGTCAGTGGCTGCAGGCGGCT	0.607																																							uc003jfn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(586-588)TGC>AGC		F-box and leucine-rich repeat protein 7							32.0	39.0	37.0					5																	15928457		2108	4217	6325	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928457T>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.586T>A	5.37:g.15928457T>A	ENSP00000423630:p.Cys196Ser						p.C196S	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	1067	+			196			LRR 2.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.586T>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991888	0.35131	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.53423	0.62;0.62;0.62	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	M	0.70842	2.15	0.80722	D	1	B	0.31968	0.349	B	0.29942	0.109	T	0.54636	-0.8264	10	0.66056	D	0.02	.	15.3489	0.74368	0.0:0.0:0.0:1.0	.	196	Q9UJT9	FBXL7_HUMAN	S	196;149;184	ENSP00000423630:C196S;ENSP00000425184:C149S;ENSP00000329632:C184S	ENSP00000329632:C184S	C	+	1	0	FBXL7	15981457	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.008000	0.88588	2.038000	0.60285	0.459000	0.35465	TGC		0.607	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		8	19	0	0	0	0.00308	0	8	19				
CDH9	1007	broad.mit.edu	37	5	26881466	26881466	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:26881466G>A	ENST00000231021.4	-	12	2321	c.2149C>T	c.(2149-2151)Cat>Tat	p.H717Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	717					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)	p.H717Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AATCTTCGATGGATAAAATCT	0.413																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(2149-2151)CAT>TAT		cadherin 9, type 2 preproprotein							157.0	149.0	152.0					5																	26881466		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881466G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2149C>T	5.37:g.26881466G>A	ENSP00000231021:p.His717Tyr					CDH9_uc011cnv.1_Missense_Mutation_p.H310Y	p.H717Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2318	-			717			Cytoplasmic (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2149C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	3.884	-0.025432	0.07589	.	.	ENSG00000113100	ENST00000231021	T	0.77229	-1.08	5.06	5.06	0.68205	Cadherin, cytoplasmic domain (1);	0.241604	0.47852	D	0.000214	T	0.76550	0.4003	L	0.41236	1.265	0.42982	D	0.994465	B;B	0.26876	0.162;0.162	B;B	0.40038	0.317;0.251	T	0.71563	-0.4555	9	.	.	.	.	17.3626	0.87355	0.0:0.0:1.0:0.0	.	310;717	B4DFP0;Q9ULB4	.;CADH9_HUMAN	Y	717	ENSP00000231021:H717Y	.	H	-	1	0	CDH9	26917223	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.760000	0.55235	2.504000	0.84457	0.557000	0.71058	CAT		0.413	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		36	61	0	0	0	0.005524	0	36	61				
SLC45A2	51151	broad.mit.edu	37	5	33947361	33947361	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:33947361C>A	ENST00000296589.4	-	6	1421	c.1275G>T	c.(1273-1275)ctG>ctT	p.L425L	SLC45A2_ENST00000382102.3_Silent_p.L425L|SLC45A2_ENST00000342059.3_Silent_p.L366L	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	425					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.L425L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TGCACAGGACCAGGGTGGAGT	0.498																																					Ovarian(31;380 859 8490 22203 49048)	Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1273-1275)CTG>CTT		membrane-associated transporter protein isoform							173.0	172.0	173.0					5																	33947361		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947361C>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1275G>T	5.37:g.33947361C>A						SLC45A2_uc003jie.2_Silent_p.L425L	p.L425L	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			6	1367	-			425			Extracellular (Potential).		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.1275G>T	CCDS3901.1																																																																																				0.498	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		71	109	1	0	7.59065e-32	0.00361	1.35766e-31	71	109				
UGT3A2	167127	broad.mit.edu	37	5	36038112	36038112	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:36038112G>T	ENST00000282507.3	-	6	1183	c.1082C>A	c.(1081-1083)cCa>cAa	p.P361Q	UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000545528.1_Missense_Mutation_p.P59Q|UGT3A2_ENST00000513300.1_Missense_Mutation_p.P327Q	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	361					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.P361Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACGGATGCTTGGGTGAGCTGT	0.507																																							uc003jjz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1081-1083)CCA>CAA		UDP glycosyltransferase 3 family, polypeptide A2							57.0	60.0	59.0					5																	36038112		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36038112G>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1082C>A	5.37:g.36038112G>T	ENSP00000282507:p.Pro361Gln					UGT3A2_uc011cos.1_Missense_Mutation_p.P327Q|UGT3A2_uc011cot.1_Missense_Mutation_p.P59Q	p.P361Q	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1175	-	all_lung(31;0.000179)		361			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1082C>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734726	0.48939	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.69040	-0.37;-0.37;-0.37	3.64	3.64	0.41730	.	0.177425	0.35805	U	0.002975	D	0.84465	0.5478	M	0.91406	3.205	0.39493	D	0.968089	D;D	0.76494	0.971;0.999	P;D	0.78314	0.902;0.991	D	0.89212	0.3565	10	0.87932	D	0	.	15.2797	0.73773	0.0:0.0:1.0:0.0	.	327;361	E9PFK7;Q3SY77	.;UD3A2_HUMAN	Q	361;327;59	ENSP00000282507:P361Q;ENSP00000427404:P327Q;ENSP00000445367:P59Q	ENSP00000282507:P361Q	P	-	2	0	UGT3A2	36073869	1.000000	0.71417	0.264000	0.24511	0.528000	0.34623	4.257000	0.58816	2.335000	0.79485	0.563000	0.77884	CCA		0.507	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		11	49	1	0	0.00010058	0.001368	0.000112536	11	49				
MROH2B	133558	broad.mit.edu	37	5	41019043	41019043	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:41019043G>T	ENST00000399564.4	-	25	2969	c.2519C>A	c.(2518-2520)cCa>cAa	p.P840Q	MROH2B_ENST00000506092.2_Missense_Mutation_p.P395Q	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	840								p.P840Q(1)									TTCCAGAGGTGGAAGGGGCAG	0.478																																							uc003jmj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(2518-2520)CCA>CAA		HEAT repeat family member 7B2							95.0	92.0	93.0					5																	41019043		1961	4145	6106	SO:0001583	missense	133558						binding	g.chr5:41019043G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2519C>A	5.37:g.41019043G>T	ENSP00000382476:p.Pro840Gln					HEATR7B2_uc003jmi.3_Missense_Mutation_p.P395Q	p.P840Q	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			25	3009	-			840					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2519C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221709	0.79464	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05139	3.49;3.49	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.64402	D	0.000018	T	0.15349	0.0370	L	0.31420	0.93	0.43907	D	0.996543	D	0.89917	1.0	D	0.91635	0.999	T	0.04650	-1.0936	10	0.29301	T	0.29	.	16.0408	0.80680	0.0:0.0:1.0:0.0	.	840	Q7Z745	HTRB2_HUMAN	Q	395;545;840	ENSP00000441504:P395Q;ENSP00000382476:P840Q	ENSP00000296803:P545Q	P	-	2	0	HEATR7B2	41054800	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.833000	0.62766	2.865000	0.98341	0.655000	0.94253	CCA		0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		11	30	1	0	7.03913e-09	0.001368	8.8341e-09	11	30				
ERBB2IP	55914	broad.mit.edu	37	5	65346652	65346652	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:65346652C>T	ENST00000284037.5	+	20	2334	c.1945C>T	c.(1945-1947)Cac>Tac	p.H649Y	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.H645Y|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.H649Y	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	649					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.H649Y(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGAAGTTACACACAATAGCAA	0.333																																							uc003juk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|central_nervous_system(2)	7						c.(1945-1947)CAC>TAC		ERBB2 interacting protein isoform 2							104.0	104.0	104.0					5																	65346652		2202	4300	6502	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65346652C>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1945C>T	5.37:g.65346652C>T	ENSP00000284037:p.His649Tyr					ERBB2IP_uc003jui.1_Missense_Mutation_p.H649Y|ERBB2IP_uc003juj.1_Missense_Mutation_p.H649Y|ERBB2IP_uc011cqx.1_Missense_Mutation_p.H649Y|ERBB2IP_uc011cqy.1_Missense_Mutation_p.H649Y|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.H645Y|ERBB2IP_uc003jul.1_Missense_Mutation_p.H645Y	p.H649Y	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	20	2253	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	649					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.1945C>T	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111892	0.77210	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.05996	3.36;3.36;3.36;3.36;3.36;3.36;3.36;3.36;3.36	5.66	5.66	0.87406	.	0.103596	0.64402	D	0.000002	T	0.14657	0.0354	N	0.22421	0.69	0.38746	D	0.95399	P;P;P;D;P;D;D	0.65815	0.933;0.889;0.947;0.995;0.578;0.975;0.993	P;B;P;P;B;P;P	0.62014	0.622;0.418;0.521;0.843;0.123;0.674;0.897	T	0.02933	-1.1092	10	0.72032	D	0.01	.	19.7415	0.96232	0.0:1.0:0.0:0.0	.	649;649;649;645;649;649;649	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	Y	649;649;649;649;649;649;645;649;649	ENSP00000284037:H649Y;ENSP00000370330:H649Y;ENSP00000370326:H649Y;ENSP00000370323:H649Y;ENSP00000370322:H649Y;ENSP00000370325:H649Y;ENSP00000422766:H645Y;ENSP00000426632:H649Y;ENSP00000422015:H649Y	ENSP00000284037:H649Y	H	+	1	0	ERBB2IP	65382408	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.132000	0.71676	2.668000	0.90789	0.561000	0.74099	CAC		0.333	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		13	54	0	0	0	0.003163	0	13	54				
FAM169A	26049	broad.mit.edu	37	5	74130289	74130289	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:74130289T>G	ENST00000389156.4	-	5	542	c.452A>C	c.(451-453)aAa>aCa	p.K151T	FAM169A_ENST00000510496.1_Missense_Mutation_p.K151T|FAM169A_ENST00000380515.3_Intron	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	151						membrane (GO:0016020)|nucleus (GO:0005634)		p.K151T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GGCCTCTCCTTTCTTCCACAG	0.358																																							uc003kdm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(451-453)AAA>ACA		hypothetical protein LOC26049							144.0	130.0	134.0					5																	74130289		1832	4087	5919	SO:0001583	missense	26049							g.chr5:74130289T>G		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.452A>C	5.37:g.74130289T>G	ENSP00000373808:p.Lys151Thr					FAM169A_uc010izm.2_Missense_Mutation_p.K151T|FAM169A_uc003kdl.2_Intron	p.K151T	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN			5	495	-			151					A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.452A>C	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.702168	0.68501	.	.	ENSG00000198780	ENST00000389156;ENST00000510496;ENST00000513277;ENST00000514200	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.88	5.88	0.94601	.	0.187546	0.37348	N	0.002131	T	0.25680	0.0625	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71184	0.972;0.961	T	0.01130	-1.1442	10	0.33141	T	0.24	-15.319	10.5943	0.45327	0.0:0.0715:0.0:0.9285	.	151;151	D6RB01;Q9Y6X4	.;F169A_HUMAN	T	151	ENSP00000373808:K151T;ENSP00000424578:K151T;ENSP00000423631:K151T;ENSP00000423883:K151T	ENSP00000373808:K151T	K	-	2	0	FAM169A	74166045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.211000	0.58507	2.243000	0.73865	0.533000	0.62120	AAA		0.358	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			21	59	0	0	0	0.00333	0	21	59				
SLCO6A1	133482	broad.mit.edu	37	5	101834447	101834447	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:101834447C>A	ENST00000506729.1	-	1	273	c.102G>T	c.(100-102)agG>agT	p.R34S	SLCO6A1_ENST00000514551.1_5'Flank|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R34S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R34S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R34S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R34S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R34S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCCCTTGGCCCTCCTGTCCT	0.607																																							uc003knn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(100-102)AGG>AGT		solute carrier organic anion transporter family,							104.0	118.0	113.0					5																	101834447		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834447C>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.102G>T	5.37:g.101834447C>A	ENSP00000421339:p.Arg34Ser					SLCO6A1_uc003kno.2_Missense_Mutation_p.R34S|SLCO6A1_uc003knp.2_Missense_Mutation_p.R34S|SLCO6A1_uc003knq.2_Missense_Mutation_p.R34S	p.R34S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	274	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	34			Cytoplasmic (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.102G>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	6.706	0.498991	0.12762	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.52057	0.85;0.85;0.79;0.68;0.68	3.11	-5.54	0.02544	.	7739.210000	0.00166	N	0.000000	T	0.27098	0.0664	N	0.19112	0.55	0.09310	N	1	B;B;B	0.16603	0.015;0.018;0.009	B;B;B	0.13407	0.003;0.009;0.001	T	0.15435	-1.0437	10	0.11485	T	0.65	.	5.5001	0.16825	0.0:0.2304:0.3844:0.3851	.	34;34;34	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	34	ENSP00000421339:R34S;ENSP00000369135:R34S;ENSP00000373671:R34S;ENSP00000421990:R34S;ENSP00000369138:R34S	ENSP00000369135:R34S	R	-	3	2	SLCO6A1	101862346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.207000	0.17395	-1.539000	0.01732	-0.347000	0.07816	AGG		0.607	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		53	181	1	0	3.28156e-27	0.00361	5.68049e-27	53	181				
NUDT12	83594	broad.mit.edu	37	5	102895744	102895744	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:102895744C>A	ENST00000230792.2	-	2	302	c.206G>T	c.(205-207)gGg>gTg	p.G69V	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	69					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)	p.G69V(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AAATGTTTACCCTTTCTCAAG	0.363																																							uc003koi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(205-207)GGG>GTG		nudix-type motif 12							102.0	97.0	99.0					5																	102895744		2202	4300	6502	SO:0001630	splice_region_variant	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102895744C>A	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.206+1G>T	5.37:g.102895744C>A						NUDT12_uc011cvb.1_Intron|NUDT12_uc010jbq.1_Missense_Mutation_p.G69V	p.G69V	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	2	299	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	69			ANK 2.		B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.206G>T	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849978	0.91277	.	.	ENSG00000112874	ENST00000230792	T	0.54866	0.55	5.9	5.9	0.94986	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.79695	0.4490	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82686	-0.0334	10	0.87932	D	0	-15.6359	20.2789	0.98501	0.0:1.0:0.0:0.0	.	69	Q9BQG2	NUD12_HUMAN	V	69	ENSP00000230792:G69V	ENSP00000230792:G69V	G	-	2	0	NUDT12	102923643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.614000	0.74197	2.788000	0.95919	0.650000	0.86243	GGG		0.363	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438	Missense_Mutation	33	50	1	0	4.39465e-27	0.002836	7.58984e-27	33	50				
FBN2	2201	broad.mit.edu	37	5	127666358	127666358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:127666358G>A	ENST00000508053.1	-	39	5226	c.4252C>T	c.(4252-4254)Cag>Tag	p.Q1418*	FBN2_ENST00000508989.1_Nonsense_Mutation_p.Q1385*|FBN2_ENST00000507835.1_Nonsense_Mutation_p.Q268*|FBN2_ENST00000262464.4_Nonsense_Mutation_p.Q1418*			P35556	FBN2_HUMAN	fibrillin 2	1418	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.Q1418*(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATGCTACACTGGTGGGTTCCA	0.463																																							uc003kuu.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4252-4254)CAG>TAG		fibrillin 2 precursor							128.0	118.0	121.0					5																	127666358		2203	4300	6503	SO:0001587	stop_gained	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127666358G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4252C>T	5.37:g.127666358G>A	ENSP00000424571:p.Gln1418*					FBN2_uc003kuv.2_Nonsense_Mutation_p.Q1385*	p.Q1418*	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	33	4691	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1418			EGF-like 23; calcium-binding.		B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	c.4252C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	47	13.058086	0.99716	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	.	.	.	5.14	5.14	0.70334	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	19.1483	0.93477	0.0:0.0:1.0:0.0	.	.	.	.	X	1418;1418;268;1385	.	ENSP00000262464:Q1418X	Q	-	1	0	FBN2	127694257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.154000	0.42291	2.835000	0.97688	0.591000	0.81541	CAG		0.463	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		23	28	0	0	0	0.005443	0	23	28				
FBN2	2201	broad.mit.edu	37	5	127681204	127681204	+	Missense_Mutation	SNP	C	C	A	rs139620380	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:127681204C>A	ENST00000508053.1	-	30	4036	c.3062G>T	c.(3061-3063)cGc>cTc	p.R1021L	FBN2_ENST00000508989.1_Missense_Mutation_p.R988L|FBN2_ENST00000262464.4_Missense_Mutation_p.R1021L			P35556	FBN2_HUMAN	fibrillin 2	1021	TB 5.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R1021L(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCATCCATGCGGAACTTTCC	0.572																																							uc003kuu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(3061-3063)CGC>CTC		fibrillin 2 precursor							94.0	89.0	91.0					5																	127681204		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127681204C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3062G>T	5.37:g.127681204C>A	ENSP00000424571:p.Arg1021Leu					FBN2_uc003kuv.2_Missense_Mutation_p.R988L	p.R1021L	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	24	3501	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1021			TB 5.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3062G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847088	0.91277	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92348	-3.02;-3.02;-3.02	4.08	4.08	0.47627	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000006	D	0.94814	0.8325	L	0.58583	1.82	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.81914	0.981;0.995	D	0.94180	0.7431	10	0.42905	T	0.14	.	17.5943	0.88006	0.0:1.0:0.0:0.0	.	988;1021	D6RJI3;P35556	.;FBN2_HUMAN	L	1021;1021;988	ENSP00000262464:R1021L;ENSP00000424571:R1021L;ENSP00000425596:R988L	ENSP00000262464:R1021L	R	-	2	0	FBN2	127709103	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.609000	0.82925	2.567000	0.86603	0.563000	0.77884	CGC		0.572	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		23	49	1	0	3.08376e-08	0.00333	3.80045e-08	23	49				
ISOC1	51015	broad.mit.edu	37	5	128440707	128440707	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:128440707A>T	ENST00000173527.5	+	2	384	c.368A>T	c.(367-369)cAg>cTg	p.Q123L		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	123						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)	p.Q123L(1)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		TGTGATATGCAGGAAAGGTTC	0.388																																							uc003kva.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(367-369)CAG>CTG		isochorismatase domain containing 1							219.0	208.0	212.0					5																	128440707		1881	4120	6001	SO:0001583	missense	51015					peroxisome	catalytic activity	g.chr5:128440707A>T	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.368A>T	5.37:g.128440707A>T	ENSP00000173527:p.Gln123Leu						p.Q123L	NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)	2	386	+		all_cancers(142;0.0813)|Prostate(80;0.0865)	123					Q7Z770	Missense_Mutation	SNP	ENST00000173527.5	37	c.368A>T	CCDS43357.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605399	0.87157	.	.	ENSG00000066583	ENST00000506986;ENST00000514194;ENST00000173527;ENST00000513879	.	.	.	4.8	4.8	0.61643	Isochorismatase-like (3);	0.000000	0.64402	D	0.000001	D	0.87095	0.6092	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91227	0.5011	8	.	.	.	-13.0967	14.8151	0.70028	1.0:0.0:0.0:0.0	.	123	Q96CN7	ISOC1_HUMAN	L	102;114;123;114	.	.	Q	+	2	0	ISOC1	128468606	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.227000	0.89787	2.161000	0.67846	0.533000	0.62120	CAG		0.388	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		20	67	0	0	0	0.010504	0	20	67				
PCDHGB3	56102	broad.mit.edu	37	5	140752309	140752309	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:140752309A>C	ENST00000576222.1	+	1	2479	c.2348A>C	c.(2347-2349)gAt>gCt	p.D783A	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	783					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTATGTGATGAAGCCTCT	0.378																																							uc003ljw.1		NA																	0					0						c.(2347-2349)GAT>GCT		protocadherin gamma subfamily B, 3 isoform 1							58.0	53.0	55.0					5																	140752309		1866	4110	5976	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140752309A>C	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2348A>C	5.37:g.140752309A>C	ENSP00000461862:p.Asp783Ala					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.D783A|PCDHGA6_uc011dau.1_5'Flank	p.D783A	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2348	+			783			Cytoplasmic (Potential).		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2348A>C	CCDS58980.1																																																																																				0.378	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		14	15	0	0	0	0.00245	0	14	15				
PCDHGA7	56108	broad.mit.edu	37	5	140762984	140762984	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:140762984G>T	ENST00000518325.1	+	1	518	c.518G>T	c.(517-519)aGc>aTc	p.S173I	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	173	Cadherin 2. {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)	p.S173I(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCAGCTCAGCCCCAATCGC	0.567																																							uc003lka.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(517-519)AGC>ATC		protocadherin gamma subfamily A, 7 isoform 1							29.0	35.0	33.0					5																	140762984		2102	4223	6325	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140762984G>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.518G>T	5.37:g.140762984G>T	ENSP00000430024:p.Ser173Ile					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.S173I	p.S173I	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	518	+			173			Extracellular (Potential).|Cadherin 2.		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.518G>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	14.28	2.487102	0.44249	.	.	ENSG00000253537	ENST00000518325	T	0.52295	0.67	5.11	1.92	0.25849	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68723	0.3032	M	0.86573	2.825	0.18873	N	0.999982	P;P	0.52463	0.682;0.953	D;P	0.65010	0.931;0.787	T	0.59252	-0.7489	9	0.87932	D	0	.	10.4354	0.44433	0.0832:0.1107:0.8061:0.0	.	173;173	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	I	173	ENSP00000430024:S173I	ENSP00000430024:S173I	S	+	2	0	PCDHGA7	140743168	0.000000	0.05858	0.993000	0.49108	0.908000	0.53690	-0.034000	0.12225	0.120000	0.18254	0.655000	0.94253	AGC		0.567	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		8	26	1	0	0.00621372	0.006214	0.00657153	8	26				
PCDHGB7	56099	broad.mit.edu	37	5	140798154	140798154	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:140798154G>T	ENST00000398594.2	+	1	728	c.728G>T	c.(727-729)aGc>aTc	p.S243I	PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	243	Cadherin 3. {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)	p.S243I(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTGTTCAGCCAGGACGTG	0.567																																							uc003lkn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(727-729)AGC>ATC		protocadherin gamma subfamily B, 7 isoform 1							92.0	93.0	93.0					5																	140798154		2010	4178	6188	SO:0001583	missense	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140798154G>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.728G>T	5.37:g.140798154G>T	ENSP00000381594:p.Ser243Ile					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.S243I|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.S243I	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	873	+			243			Extracellular (Potential).|Cadherin 3.		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.728G>T	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	11.83	1.755947	0.31137	.	.	ENSG00000254122	ENST00000398594	T	0.61627	0.09	5.7	3.87	0.44632	Cadherin (3);Cadherin-like (1);	0.186430	0.25122	U	0.032961	T	0.65913	0.2737	M	0.88775	2.98	0.24171	N	0.995623	B;B	0.31193	0.312;0.191	B;B	0.32762	0.103;0.152	T	0.61831	-0.6982	10	0.59425	D	0.04	.	15.4696	0.75432	0.0:0.396:0.604:0.0	.	243;243	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	I	243	ENSP00000381594:S243I	ENSP00000381594:S243I	S	+	2	0	PCDHGB7	140778338	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-1.613000	0.02059	0.725000	0.32318	-0.305000	0.09177	AGC		0.567	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		33	62	1	0	4.3181e-19	0.002836	6.80236e-19	33	62				
PDGFRB	5159	broad.mit.edu	37	5	149515331	149515331	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:149515331C>A	ENST00000261799.4	-	3	620	c.151G>T	c.(151-153)Gtt>Ttt	p.V51F		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	51	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.V51F(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGTCAGAACGAAGGTGCTG	0.607			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																		uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(151-153)GTT>TTT		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						47.0	41.0	43.0					5																	149515331		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149515331C>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.151G>T	5.37:g.149515331C>A	ENSP00000261799:p.Val51Phe					PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.V51F	p.V51F	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	620	-		all_hematologic(541;0.224)	51			Extracellular (Potential).|Ig-like C2-type 1.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.151G>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242057	0.58995	.	.	ENSG00000113721	ENST00000261799;ENST00000517957	T;T	0.21932	1.98;1.98	5.42	1.05	0.20165	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.767002	0.11469	N	0.560997	T	0.26048	0.0635	L	0.44542	1.39	0.09310	N	1	D;P	0.55605	0.972;0.949	P;B	0.55455	0.776;0.424	T	0.12167	-1.0558	10	0.66056	D	0.02	.	4.0578	0.09824	0.2679:0.4514:0.0:0.2807	.	51;51	B5A957;P09619	.;PGFRB_HUMAN	F	51	ENSP00000261799:V51F;ENSP00000430715:V51F	ENSP00000261799:V51F	V	-	1	0	PDGFRB	149495524	0.009000	0.17119	0.029000	0.17559	0.917000	0.54804	0.664000	0.25068	0.181000	0.19994	0.561000	0.74099	GTT		0.607	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		6	25	1	0	0.00116845	0.001168	0.00125871	6	25				
GLRA1	2741	broad.mit.edu	37	5	151231087	151231087	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:151231087C>A	ENST00000455880.2	-	7	1062	c.776G>T	c.(775-777)aGc>aTc	p.S259I	GLRA1_ENST00000274576.4_Missense_Mutation_p.S259I|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.S176I			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	259					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)	p.S259I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AATGAGCAGGCTGGGAATATA	0.517																																							uc003lut.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(775-777)AGC>ATC		glycine receptor, alpha 1 isoform 1 precursor	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						151.0	137.0	142.0					5																	151231087		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151231087C>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.776G>T	5.37:g.151231087C>A	ENSP00000411593:p.Ser259Ile					GLRA1_uc003lur.2_Missense_Mutation_p.S259I|GLRA1_uc003lus.2_Missense_Mutation_p.S176I	p.S259I	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1063	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	259			Helical; (Probable).		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.776G>T	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421552	0.83559	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.88046	-2.33;-2.33;-2.33	5.2	5.2	0.72013	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.099661	0.64402	D	0.000003	D	0.95446	0.8521	M	0.94101	3.495	0.51233	D	0.999917	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.999	D	0.96285	0.9209	10	0.72032	D	0.01	.	19.1084	0.93307	0.0:1.0:0.0:0.0	.	259;176;259	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	I	259;259;176	ENSP00000274576:S259I;ENSP00000411593:S259I;ENSP00000445913:S176I	ENSP00000274576:S259I	S	-	2	0	GLRA1	151211280	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.073000	0.71245	2.579000	0.87056	0.655000	0.94253	AGC		0.517	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			25	57	1	0	3.65163e-15	0.00632	5.27769e-15	25	57				
KIF4B	285643	broad.mit.edu	37	5	154395645	154395645	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:154395645A>T	ENST00000435029.4	+	1	2386	c.2226A>T	c.(2224-2226)cgA>cgT	p.R742R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	742	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R742R(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGCAGCTCGAGTGAGGAATT	0.483																																							uc010jih.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2224-2226)CGA>CGT		kinesin family member 4B							86.0	84.0	85.0					5																	154395645		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395645A>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2226A>T	5.37:g.154395645A>T							p.R742R	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2386	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	742			Interaction with PRC1 (By similarity).|Potential.			Silent	SNP	ENST00000435029.4	37	c.2226A>T	CCDS47324.1																																																																																				0.483	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			10	31	0	0	0	0.008291	0	10	31				
FAM71B	153745	broad.mit.edu	37	5	156589909	156589909	+	Missense_Mutation	SNP	C	C	A	rs529901585	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:156589909C>A	ENST00000302938.4	-	2	1462	c.1367G>T	c.(1366-1368)aGa>aTa	p.R456I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	456						nucleus (GO:0005634)		p.R456I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCCCCCGCTCTCCTGCGGTG	0.478																																							uc003lwn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1366-1368)AGA>ATA		family with sequence similarity 71, member B							182.0	172.0	176.0					5																	156589909		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589909C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1367G>T	5.37:g.156589909C>A	ENSP00000305596:p.Arg456Ile						p.R456I	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1467	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	456			Bipartite nuclear localization signal (Potential).		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1367G>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	8.876	0.950437	0.18431	.	.	ENSG00000170613	ENST00000302938	T	0.19394	2.15	3.27	-2.83	0.05769	.	2.324530	0.02560	N	0.096648	T	0.09992	0.0245	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.11329	0.006	T	0.22765	-1.0207	10	0.72032	D	0.01	1.2814	1.3467	0.02165	0.2079:0.3086:0.3276:0.1558	.	456	Q8TC56	FA71B_HUMAN	I	456	ENSP00000305596:R456I	ENSP00000305596:R456I	R	-	2	0	FAM71B	156522487	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.659000	0.05323	-0.894000	0.03925	-1.253000	0.01494	AGA		0.478	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		30	132	1	0	5.45727e-16	0.008361	8.08922e-16	30	132				
ATP10B	23120	broad.mit.edu	37	5	160047932	160047932	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:160047932G>T	ENST00000327245.5	-	15	2684	c.1838C>A	c.(1837-1839)gCt>gAt	p.A613D	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	613					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A613D(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTCCCCAGAGCCTTGCTTGA	0.468																																							uc003lym.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1837-1839)GCT>GAT		ATPase, class V, type 10B							178.0	172.0	174.0					5																	160047932		1976	4176	6152	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047932G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1838C>A	5.37:g.160047932G>T	ENSP00000313600:p.Ala613Asp					ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.A171D	p.A613D	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2685	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	613			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1838C>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595506	0.28445	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.86164	-2.08;-2.08	5.53	4.67	0.58626	HAD-like domain (1);	0.704947	0.13544	N	0.379978	T	0.81422	0.4819	L	0.36672	1.1	0.37381	D	0.912022	P;P	0.36354	0.549;0.491	B;B	0.34652	0.174;0.187	T	0.78994	-0.1984	9	.	.	.	.	13.214	0.59844	0.0757:0.0:0.9243:0.0	.	221;613	Q2YDW8;O94823	.;AT10B_HUMAN	D	613;221	ENSP00000313600:A613D;ENSP00000431081:A221D	.	A	-	2	0	ATP10B	159980510	0.998000	0.40836	1.000000	0.80357	0.434000	0.31775	3.064000	0.49986	1.345000	0.45676	0.655000	0.94253	GCT		0.468	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		52	214	1	0	3.74213e-36	0.00361	6.83937e-36	52	214				
DOCK2	1794	broad.mit.edu	37	5	169267762	169267762	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:169267762C>A	ENST00000256935.8	+	27	2785	c.2705C>A	c.(2704-2706)gCc>gAc	p.A902D	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Splice_Site_p.A394D	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	902					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.A902D(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTTTACAGGCCTTCACCTAC	0.493																																							uc003maf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(2704-2706)GCC>GAC		dedicator of cytokinesis 2							146.0	116.0	126.0					5																	169267762		2203	4300	6503	SO:0001630	splice_region_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169267762C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2704-1C>A	5.37:g.169267762C>A						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.A394D	p.A902D	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		27	2785	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	902					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2705C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603946	0.46423	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.21191	2.02;2.02;2.02	5.37	4.5	0.54988	.	0.153716	0.56097	D	0.000022	T	0.12092	0.0294	L	0.29908	0.895	0.80722	D	1	B;B	0.27559	0.181;0.005	B;B	0.21708	0.036;0.003	T	0.10660	-1.0620	10	0.12430	T	0.62	.	7.4695	0.27340	0.1632:0.749:0.0:0.0878	.	394;902	E7ERW7;Q92608	.;DOCK2_HUMAN	D	902;283;394;106	ENSP00000256935:A902D;ENSP00000429283:A394D;ENSP00000428841:A106D	ENSP00000256935:A902D	A	+	2	0	DOCK2	169200340	0.982000	0.34865	1.000000	0.80357	0.892000	0.51952	0.441000	0.21611	2.508000	0.84585	0.650000	0.86243	GCC		0.493	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	Missense_Mutation	9	23	1	0	4.68919e-08	0.008291	5.7414e-08	9	23				
DOCK2	1794	broad.mit.edu	37	5	169469016	169469016	+	Splice_Site	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:169469016G>A	ENST00000256935.8	+	38	3836		c.e38-1		DOCK2_ENST00000540750.1_Splice_Site|DOCK2_ENST00000523351.1_Splice_Site|DOCK2_ENST00000520908.1_Splice_Site	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.?(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCTTCACAGTGGTCGGATG	0.572																																							uc003maf.2		NA																	1	Unknown(1)		lung(1)	ovary(5)|pancreas(2)	7						c.e38-1		dedicator of cytokinesis 2							56.0	48.0	51.0					5																	169469016		2203	4300	6503	SO:0001630	splice_region_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169469016G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3757-1G>A	5.37:g.169469016G>A						DOCK2_uc011der.1_Splice_Site|DOCK2_uc010jjm.2_Splice_Site_p.W745_splice	p.W1253_splice	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		38	3837	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)						Q2M3I0|Q96AK7	Splice_Site	SNP	ENST00000256935.8	37	c.3757_splice	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304837	0.60305	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0559	0.93064	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK2	169401594	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	9.813000	0.99286	2.577000	0.86979	0.561000	0.74099	.		0.572	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	Intron	13	24	0	0	0	0.00245	0	13	24				
DOCK2	1794	broad.mit.edu	37	5	169474591	169474591	+	Nonsense_Mutation	SNP	C	C	A	rs199913251	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:169474591C>A	ENST00000256935.8	+	40	4124	c.4044C>A	c.(4042-4044)taC>taA	p.Y1348*	DOCK2_ENST00000540750.1_Nonsense_Mutation_p.Y409*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.Y840*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1348	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.Y1348*(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGGATACTACGGCCAGGGAT	0.522																																							uc003maf.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(4042-4044)TAC>TAA		dedicator of cytokinesis 2							86.0	86.0	86.0					5																	169474591		2203	4300	6503	SO:0001587	stop_gained	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169474591C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4044C>A	5.37:g.169474591C>A	ENSP00000256935:p.Tyr1348*					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Nonsense_Mutation_p.Y840*	p.Y1348*	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		40	4124	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1348			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	37	c.4044C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	48	13.933047	0.99771	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.32	-10.6	0.00265	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9279	0.79635	0.0:0.4924:0.0:0.5076	.	.	.	.	X	1348;840;409	.	ENSP00000256935:Y1348X	Y	+	3	2	DOCK2	169407169	0.005000	0.15991	0.633000	0.29310	0.532000	0.34746	-1.189000	0.03061	-2.127000	0.00819	-1.421000	0.01109	TAC		0.522	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		24	39	1	0	5.35356e-11	0.00278	7.19862e-11	24	39				
GABRP	2568	broad.mit.edu	37	5	170216248	170216248	+	Missense_Mutation	SNP	G	G	T	rs146765294		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:170216248G>T	ENST00000518525.1	+	4	633	c.169G>T	c.(169-171)Ggt>Tgt	p.G57C	MIR4454_ENST00000518172.1_RNA|GABRP_ENST00000519385.1_Missense_Mutation_p.G57C|GABRP_ENST00000519598.1_Missense_Mutation_p.G57C|GABRP_ENST00000265294.4_Missense_Mutation_p.G57C			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	57					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G57C(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	GCCCAATTTTGGTGGTAGGTC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		21165	0.0		0.001	False		,,,				2504	0.0						uc003mau.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(169-171)GGT>TGT		gamma-aminobutyric acid (GABA) A receptor, pi		G	CYS/GLY	0,4406		0,0,2203	62.0	52.0	56.0		169	5.2	1.0	5	dbSNP_134	56	4,8596	1.2+/-3.3	0,4,4296	yes	missense	GABRP	NM_014211.2	159	0,4,6499	TT,TG,GG		0.0465,0.0,0.0308	probably-damaging	57/441	170216248	4,13002	2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170216248G>T	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.169G>T	5.37:g.170216248G>T	ENSP00000430100:p.Gly57Cys					GABRP_uc011dev.1_Missense_Mutation_p.G57C	p.G57C	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	367	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	57			Extracellular (Potential).		A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.169G>T	CCDS4375.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.8	4.043273	0.75732	0.0	4.65E-4	ENSG00000094755	ENST00000521481;ENST00000521009;ENST00000519196;ENST00000522868;ENST00000518525;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.23	5.23	0.72850	Neurotransmitter-gated ion-channel ligand-binding (3);	0.108992	0.64402	D	0.000005	D	0.90504	0.7025	M	0.87682	2.9	0.44110	D	0.996886	D;D	0.76494	0.997;0.999	D;D	0.66847	0.947;0.947	D	0.92017	0.5623	10	0.87932	D	0	.	16.9694	0.86295	0.0:0.0:1.0:0.0	.	57;57	E7EWG0;O00591	.;GBRP_HUMAN	C	57	ENSP00000428804:G57C;ENSP00000428103:G57C;ENSP00000430188:G57C;ENSP00000430100:G57C;ENSP00000265294:G57C;ENSP00000430727:G57C;ENSP00000430772:G57C	ENSP00000265294:G57C	G	+	1	0	GABRP	170148826	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.024000	0.64090	2.605000	0.88082	0.655000	0.94253	GGT		0.473	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		13	12	1	0	1.61879e-10	0.001368	2.14227e-10	13	12				
DRD1	1812	broad.mit.edu	37	5	174869090	174869090	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:174869090C>T	ENST00000393752.2	-	2	2005	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	338					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.R338Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AAATGCCTTCCGAAAATCAGC	0.453																																							uc003mcz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1012-1014)CGG>CAG		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						93.0	92.0	92.0					5																	174869090		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869090C>T	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.1013G>A	5.37:g.174869090C>T	ENSP00000377353:p.Arg338Gln						p.R338Q	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1958	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	338			Cytoplasmic (Potential).		B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.1013G>A	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180390	0.57800	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.57273	0.41	5.4	4.49	0.54785	.	0.051259	0.85682	N	0.000000	T	0.45438	0.1342	L	0.54323	1.7	0.80722	D	1	P	0.38473	0.633	B	0.34138	0.176	T	0.48625	-0.9019	10	0.62326	D	0.03	.	10.5129	0.44872	0.0:0.8969:0.0:0.1031	.	338	P21728	DRD1_HUMAN	Q	338	ENSP00000377353:R338Q	ENSP00000327652:R338Q	R	-	2	0	DRD1	174801696	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.954000	0.70298	1.261000	0.44149	0.555000	0.69702	CGG		0.453	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		22	37	0	0	0	0.002299	0	22	37				
ZNF454	285676	broad.mit.edu	37	5	178391974	178391974	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:178391974G>T	ENST00000320129.3	+	5	872	c.569G>T	c.(568-570)aGt>aTt	p.S190I	ZNF454_ENST00000519564.1_Missense_Mutation_p.S190I	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	190					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)	p.S190I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TTCTCTAAGAGTTCAACTCTT	0.333																																							uc003mjo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(568-570)AGT>ATT		zinc finger protein 454							47.0	49.0	49.0					5																	178391974		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178391974G>T	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.569G>T	5.37:g.178391974G>T	ENSP00000326249:p.Ser190Ile					ZNF454_uc010jkz.1_Missense_Mutation_p.S190I	p.S190I	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	840	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	190			C2H2-type 1.		Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.569G>T	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	9.228	1.035217	0.19590	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.34859	1.34;1.34	4.61	3.7	0.42460	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.147996	0.31760	N	0.007107	T	0.28433	0.0703	L	0.45228	1.405	0.23809	N	0.99679	B	0.16166	0.016	B	0.13407	0.009	T	0.16482	-1.0401	10	0.39692	T	0.17	-8.0488	8.9517	0.35792	0.1194:0.0:0.8805:0.0	.	190	Q8N9F8	ZN454_HUMAN	I	190	ENSP00000326249:S190I;ENSP00000430354:S190I	ENSP00000326249:S190I	S	+	2	0	ZNF454	178324580	0.000000	0.05858	0.997000	0.53966	0.966000	0.64601	0.168000	0.16622	1.198000	0.43158	0.555000	0.69702	AGT		0.333	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		7	47	1	0	2.0095e-06	0.001984	2.34597e-06	7	47				
ADAMTS2	9509	broad.mit.edu	37	5	178555076	178555076	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:178555076T>A	ENST00000251582.7	-	17	2602	c.2501A>T	c.(2500-2502)tAc>tTc	p.Y834F		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	834	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y834F(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGGATCATGTATTTGTACGT	0.577																																							uc003mjw.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(2500-2502)TAC>TTC		ADAM metallopeptidase with thrombospondin type 1							182.0	145.0	158.0					5																	178555076		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178555076T>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2501A>T	5.37:g.178555076T>A	ENSP00000251582:p.Tyr834Phe						p.Y834F	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	17	2501	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	834			Spacer.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2501A>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514512	0.64522	.	.	ENSG00000087116	ENST00000251582	T	0.55234	0.53	4.55	4.55	0.56014	ADAM-TS Spacer 1 (1);	0.000000	0.51477	D	0.000097	T	0.64681	0.2620	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61691	-0.7011	10	0.29301	T	0.29	.	13.3656	0.60682	0.0:0.0:0.0:1.0	.	834	O95450	ATS2_HUMAN	F	834	ENSP00000251582:Y834F	ENSP00000251582:Y834F	Y	-	2	0	ADAMTS2	178487682	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	5.704000	0.68347	1.811000	0.52892	0.379000	0.24179	TAC		0.577	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		30	33	0	0	0	0.003271	0	30	33				
RIPK1	8737	broad.mit.edu	37	6	3105766	3105766	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:3105766C>G	ENST00000259808.4	+	9	1355	c.1057C>G	c.(1057-1059)Cct>Gct	p.P353A	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.P307A|RIPK1_ENST00000380409.2_Missense_Mutation_p.P353A			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	353	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.P353A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGGGATGGGTCCTGTGGAGGA	0.498																																							uc010jni.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(1)|skin(1)	5						c.(1057-1059)CCT>GCT		receptor (TNFRSF)-interacting serine-threonine							160.0	162.0	161.0					6																	3105766		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3105766C>G	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1057C>G	6.37:g.3105766C>G	ENSP00000259808:p.Pro353Ala					RIPK1_uc003muv.3_Missense_Mutation_p.P190A|RIPK1_uc003muw.3_Missense_Mutation_p.P288A|RIPK1_uc011dhs.1_Missense_Mutation_p.P307A|RIPK1_uc003mux.2_Missense_Mutation_p.P353A	p.P353A	NM_003804	NP_003795	Q13546	RIPK1_HUMAN			9	1289	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	353			Interaction with SQSTM1.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.1057C>G	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864046	0.32884	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.77620	-1.11;-0.62;-1.11	5.75	3.5	0.40072	.	0.315861	0.39687	N	0.001287	T	0.53190	0.1781	M	0.62723	1.935	0.09310	N	1	P;P	0.46621	0.655;0.881	B;B	0.37692	0.194;0.256	T	0.54569	-0.8274	10	0.41790	T	0.15	-18.2103	3.5056	0.07689	0.2655:0.4943:0.1324:0.1078	.	307;353	Q13546-2;Q13546	.;RIPK1_HUMAN	A	353;307;353	ENSP00000259808:P353A;ENSP00000442294:P307A;ENSP00000369773:P353A	ENSP00000259808:P353A	P	+	1	0	RIPK1	3050765	0.000000	0.05858	0.853000	0.33588	0.658000	0.38924	0.250000	0.18235	2.721000	0.93114	0.655000	0.94253	CCT		0.498	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		6	299	0	0	0	0.001168	0	6	299				
OR2W1	26692	broad.mit.edu	37	6	29012657	29012657	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:29012657A>G	ENST00000377175.1	-	1	360	c.296T>C	c.(295-297)aTc>aCc	p.I99T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I99T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ATAGAGTTGGATGATACAACC	0.433																																							uc003nlw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(295-297)ATC>ACC		olfactory receptor, family 2, subfamily W,							89.0	74.0	79.0					6																	29012657		1511	2709	4220	SO:0001583	missense	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012657A>G	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.296T>C	6.37:g.29012657A>G	ENSP00000366380:p.Ile99Thr						p.I99T	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	296	-			99			Extracellular (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	c.296T>C	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	A	6.887	0.533203	0.13188	.	.	ENSG00000204704	ENST00000377175	T	0.01446	4.88	4.78	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.699979	0.12937	N	0.426879	T	0.00356	0.0011	N	0.04820	-0.15	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.44682	-0.9312	10	0.28530	T	0.3	.	6.391	0.21587	0.7242:0.0:0.2758:0.0	.	99	Q9Y3N9	OR2W1_HUMAN	T	99	ENSP00000366380:I99T	ENSP00000366380:I99T	I	-	2	0	OR2W1	29120636	0.001000	0.12720	0.631000	0.29282	0.612000	0.37316	1.399000	0.34566	0.653000	0.30826	0.477000	0.44152	ATC		0.433	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			38	16	0	0	0	0.006999	0	38	16				
OR2B3	442184	broad.mit.edu	37	6	29054921	29054921	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:29054921G>A	ENST00000377173.2	-	1	169	c.105C>T	c.(103-105)taC>taT	p.Y35Y		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y35Y(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGGTGATTGTGTATGATATTA	0.408																																							uc003nlx.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(103-105)TAC>TAT		olfactory receptor, family 2, subfamily B,							134.0	124.0	127.0					6																	29054921		2203	4300	6503	SO:0001819	synonymous_variant	442184							g.chr6:29054921G>A		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.105C>T	6.37:g.29054921G>A							p.Y35Y	NM_001005226	NP_001005226					1	170	-								B0UYQ1|Q5ST41|Q96R13	Silent	SNP	ENST00000377173.2	37	c.105C>T	CCDS34358.1																																																																																				0.408	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			58	21	0	0	0	0.00361	0	58	21				
TNXB	7148	broad.mit.edu	37	6	32011608	32011608	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:32011608G>A	ENST00000375244.3	-	35	11649	c.11448C>T	c.(11446-11448)atC>atT	p.I3816I	TNXB_ENST00000375247.2_Silent_p.I3814I|TNXB_ENST00000451343.1_Silent_p.I245I			P22105	TENX_HUMAN	tenascin XB	3861	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.I245I(1)|p.I3881I(1)|p.I3816I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGCGCCTGGGATCAGCCCCT	0.627																																							uc003nzl.2		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(11440-11442)ATC>ATT		tenascin XB isoform 1 precursor							82.0	101.0	94.0					6																	32011608		1511	2709	4220	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32011608G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.11448C>T	6.37:g.32011608G>A						TNXB_uc003nzg.1_Silent_p.I245I|TNXB_uc003nzh.1_Silent_p.I283I	p.I3814I	NM_019105	NP_061978	P22105	TENX_HUMAN			35	11644	-			3861			Fibronectin type-III 30.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.11442C>T																																																																																					0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		8	139	0	0	0	0.00308	0	8	139				
TNXB	7148	broad.mit.edu	37	6	32024666	32024666	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:32024666T>A	ENST00000375244.3	-	23	8041	c.7840A>T	c.(7840-7842)Acc>Tcc	p.T2614S	TNXB_ENST00000375247.2_Missense_Mutation_p.T2614S			P22105	TENX_HUMAN	tenascin XB	2674	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.T2701S(1)|p.T2614S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTTGGGTGGTCTCGGCTTCA	0.582																																							uc003nzl.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(7840-7842)ACC>TCC		tenascin XB isoform 1 precursor							85.0	103.0	97.0					6																	32024666		1371	2599	3970	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32024666T>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7840A>T	6.37:g.32024666T>A	ENSP00000364393:p.Thr2614Ser						p.T2614S	NM_019105	NP_061978	P22105	TENX_HUMAN			23	8042	-			2674					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7840A>T		.	.	.	.	.	.	.	.	.	.	T	6.572	0.473773	0.12521	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55588	0.66;0.51	4.09	-0.13	0.13498	.	0.321368	0.22354	N	0.061162	T	0.12220	0.0297	L	0.31752	0.955	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.26155	-1.0111	10	0.13108	T	0.6	.	4.5558	0.12136	0.0:0.1983:0.1633:0.6384	.	2614	P22105-3	.	S	2614	ENSP00000364393:T2614S;ENSP00000364396:T2614S	ENSP00000364393:T2614S	T	-	1	0	TNXB	32132644	0.000000	0.05858	0.001000	0.08648	0.115000	0.19883	0.152000	0.16302	0.406000	0.25560	-1.409000	0.01127	ACC		0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		65	18	0	0	0	0.00361	0	65	18				
TAP2	6891	broad.mit.edu	37	6	32797760	32797760	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:32797760T>A	ENST00000452392.2	-	10	1915	c.1742A>T	c.(1741-1743)cAg>cTg	p.Q581L	TAP2_ENST00000374899.4_Missense_Mutation_p.Q581L|TAP2_ENST00000374897.2_Missense_Mutation_p.Q581L|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.Q581L(2)								Vitamin E(DB00163)	GTGGGCAGCCTGGGCAGCCGC	0.488																																							uc003occ.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1741-1743)CAG>CTG		transporter 2, ATP-binding cassette, sub-family							133.0	141.0	138.0					6																	32797760		1508	2709	4217	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32797760T>A	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1742A>T	6.37:g.32797760T>A	ENSP00000391806:p.Gln581Leu					TAP2_uc011dqf.1_Missense_Mutation_p.Q581L|TAP2_uc003ocb.1_Missense_Mutation_p.Q581L|TAP2_uc003ocd.2_Missense_Mutation_p.Q581L	p.Q581L	NM_018833	NP_061313	Q03519	TAP2_HUMAN			9	1773	-			581			ABC transporter.|Cytoplasmic (Potential).		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.1742A>T		.	.	.	.	.	.	.	.	.	.	T	17.55	3.418414	0.62622	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.90563	-2.69;-2.69;-2.69	5.44	-8.91	0.00778	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.052150	0.07467	N	0.901619	T	0.78515	0.4295	N	0.20845	0.615	0.30459	N	0.7745299999999999	P;P;P;P	0.36086	0.498;0.536;0.536;0.536	B;B;B;B	0.40329	0.326;0.229;0.229;0.229	T	0.60969	-0.7157	9	0.62326	D	0.03	-47.2873	21.935	0.99963	0.0:0.8245:0.0:0.1755	.	581;582;581;581	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	L	581	ENSP00000364034:Q581L;ENSP00000364032:Q581L;ENSP00000391806:Q581L	ENSP00000364032:Q581L	Q	-	2	0	XXbac-BPG246D15.9;TAP2	32905738	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-5.045000	0.00156	-1.823000	0.01210	-0.490000	0.04691	CAG		0.488	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		133	47	0	0	0	0.00361	0	133	47				
COL19A1	1310	broad.mit.edu	37	6	70647991	70647991	+	Splice_Site	SNP	C	C	A	rs199945062		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:70647991C>A	ENST00000322773.4	+	9	1037	c.935C>A	c.(934-936)cCg>cAg	p.P312Q		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	312	Collagen-like 1.|Triple-helical region 1 (COL1).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.P312Q(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAGGAGAGCCGGTAAGAAAA	0.373																																							uc003pfc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(934-936)CCG>CAG		alpha 1 type XIX collagen precursor							58.0	64.0	62.0					6																	70647991		2203	4300	6503	SO:0001630	splice_region_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70647991C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.936+1C>A	6.37:g.70647991C>A						COL19A1_uc010kam.1_Missense_Mutation_p.P208Q	p.P312Q	NM_001858	NP_001849	Q14993	COJA1_HUMAN			9	1052	+			312			Triple-helical region 1 (COL1).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.935C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	4.712	0.132387	0.08981	.	.	ENSG00000082293	ENST00000322773	D	0.97089	-4.24	5.45	-2.23	0.06930	.	0.821359	0.10913	N	0.620344	D	0.84165	0.5412	N	0.16862	0.45	0.30517	N	0.76883	B	0.16603	0.018	B	0.18871	0.023	T	0.70956	-0.4731	10	0.25106	T	0.35	.	7.6393	0.28284	0.5377:0.317:0.0:0.1453	.	312	Q14993	COJA1_HUMAN	Q	312	ENSP00000316030:P312Q	ENSP00000316030:P312Q	P	+	2	0	COL19A1	70704712	0.025000	0.19082	0.549000	0.28204	0.323000	0.28346	0.166000	0.16583	-0.157000	0.11059	-0.175000	0.13238	CCG		0.373	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Missense_Mutation	14	11	1	0	0.000219431	0.00245	0.000243346	14	11				
RIPPLY2	134701	broad.mit.edu	37	6	84563492	84563492	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:84563492G>T	ENST00000369689.1	+	2	325	c.174G>T	c.(172-174)gcG>gcT	p.A58A	RIPPLY2_ENST00000369687.1_5'UTR	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	58					bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)		p.A58A(1)		large_intestine(2)|lung(4)|urinary_tract(1)	7						CCGCGGAGGCGGTGAGTGAGC	0.667																																							uc003pke.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(172-174)GCG>GCT		ripply2 protein							17.0	22.0	21.0					6																	84563492		2194	4282	6476	SO:0001630	splice_region_variant	134701				somite rostral/caudal axis specification	nucleus		g.chr6:84563492G>T	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"""chromosome 6 open reading frame 159"", ""ripply2 homolog (zebrafish)"""	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.174+1G>T	6.37:g.84563492G>T							p.A58A	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN			2	325	+			58					Q5TAB6	Silent	SNP	ENST00000369689.1	37	c.174G>T	CCDS34493.1																																																																																				0.667	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994	Silent	7	7	1	0	3.09899e-07	0.004482	3.72175e-07	7	7				
TBX18	9096	broad.mit.edu	37	6	85446500	85446500	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:85446500T>A	ENST00000369663.5	-	8	2064	c.1727A>T	c.(1726-1728)cAc>cTc	p.H576L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	576					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.H576L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCTAAGCAGGTGCACTCCTTC	0.502																																							uc003pkl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(1726-1728)CAC>CTC		T-box 18							54.0	55.0	55.0					6																	85446500		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446500T>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1727A>T	6.37:g.85446500T>A	ENSP00000358677:p.His576Leu					TBX18_uc010kbq.1_Intron	p.H576L	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1727	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	576					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1727A>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.567795	0.45798	.	.	ENSG00000112837	ENST00000369663	D	0.89123	-2.47	5.26	4.02	0.46733	.	0.108200	0.64402	D	0.000009	T	0.71358	0.3330	L	0.34521	1.04	0.51767	D	0.999931	P	0.43477	0.808	B	0.29267	0.1	T	0.79391	-0.1823	10	0.72032	D	0.01	.	11.8118	0.52188	0.0:0.0:0.1466:0.8534	.	576	O95935	TBX18_HUMAN	L	576	ENSP00000358677:H576L	ENSP00000358677:H576L	H	-	2	0	TBX18	85503219	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.609000	0.54117	1.985000	0.57927	0.477000	0.44152	CAC		0.502	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		39	14	0	0	0	0.004878	0	39	14				
MDN1	23195	broad.mit.edu	37	6	90468063	90468063	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:90468063C>A	ENST00000369393.3	-	19	2728	c.2613G>T	c.(2611-2613)ctG>ctT	p.L871L	MDN1_ENST00000428876.1_Silent_p.L871L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	871					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.L871L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GATGCCGAACCAGTGGCTCTG	0.453																																							uc003pnn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)	10						c.(2611-2613)CTG>CTT		MDN1, midasin homolog							47.0	46.0	46.0					6																	90468063		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90468063C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2613G>T	6.37:g.90468063C>A						MDN1_uc003pno.1_Silent_p.L290L	p.L871L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	19	2729	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	871					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.2613G>T	CCDS5024.1																																																																																				0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			12	1	1	0	6.40141e-05	0.010729	7.24851e-05	12	1				
GRIK2	2898	broad.mit.edu	37	6	102074407	102074407	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:102074407T>A	ENST00000421544.1	+	3	926	c.436T>A	c.(436-438)Tat>Aat	p.Y146N	GRIK2_ENST00000369138.1_Missense_Mutation_p.Y146N|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y146N|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y146N|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y97N|GRIK2_ENST00000369137.3_Missense_Mutation_p.Y146N|GRIK2_ENST00000358361.3_Missense_Mutation_p.Y146N	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	146					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.Y146N(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGATTCCTTCTATGTCAGTCT	0.498																																							uc003pqp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(436-438)TAT>AAT		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						115.0	110.0	112.0					6																	102074407		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102074407T>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.436T>A	6.37:g.102074407T>A	ENSP00000397026:p.Tyr146Asn					GRIK2_uc003pqn.2_Missense_Mutation_p.Y146N|GRIK2_uc003pqo.3_Missense_Mutation_p.Y146N|GRIK2_uc010kcw.2_Missense_Mutation_p.Y146N	p.Y146N	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	3	685	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	146			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.436T>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382088	0.82792	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.64	5.64	0.86602	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	L	0.52364	1.645	0.54753	D	0.999984	P;D;P	0.57899	0.838;0.981;0.838	P;D;P	0.63033	0.781;0.91;0.707	D	0.85998	0.1493	10	0.51188	T	0.08	.	15.8586	0.79005	0.0:0.0:0.0:1.0	.	146;146;146	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	N	146;146;146;146;146;146;146;97;108	ENSP00000397026:Y146N;ENSP00000405596:Y146N;ENSP00000358134:Y146N;ENSP00000351128:Y146N;ENSP00000358133:Y146N;ENSP00000313276:Y146N;ENSP00000358130:Y97N	ENSP00000313276:Y146N	Y	+	1	0	GRIK2	102181100	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.694000	0.84235	2.123000	0.65237	0.533000	0.62120	TAT		0.498	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			25	35	0	0	0	0.003954	0	25	35				
LAMA2	3908	broad.mit.edu	37	6	129835715	129835715	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:129835715C>A	ENST00000421865.2	+	64	9235	c.9186C>A	c.(9184-9186)gaC>gaA	p.D3062E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3062	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.D3062E(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACACAAATGACCCTGTGTTTG	0.463																																							uc003qbn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(9184-9186)GAC>GAA		laminin alpha 2 subunit isoform a precursor							129.0	102.0	111.0					6																	129835715		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129835715C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.9186C>A	6.37:g.129835715C>A	ENSP00000400365:p.Asp3062Glu					LAMA2_uc003qbo.2_Missense_Mutation_p.D3058E|uc003qbq.2_Intron	p.D3062E	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	63	9291	+			3062			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.9186C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729154	0.69074	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.42900	0.96	5.83	2.09	0.27110	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.53729	1.69	0.48571	D	0.999677	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.32348	-0.9910	9	.	.	.	.	9.3014	0.37847	0.0:0.61:0.0:0.39	.	3063;3062	A6NF00;P24043	.;LAMA2_HUMAN	E	3062;3061;3062;1080	ENSP00000400365:D3062E	.	D	+	3	2	LAMA2	129877408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.793000	0.38764	0.816000	0.34421	-0.137000	0.14449	GAC		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			11	37	1	0	1.08611e-07	0.010729	1.32123e-07	11	37				
TMEM200A	114801	broad.mit.edu	37	6	130761637	130761637	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:130761637C>A	ENST00000296978.3	+	3	941	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	TMEM200A_ENST00000392429.1_Missense_Mutation_p.Q24K|TMEM200A_ENST00000545622.1_Missense_Mutation_p.Q24K	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	24						integral component of membrane (GO:0016021)		p.Q24K(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CAGATCACAGCAGCATGTCAA	0.537																																							uc003qca.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(70-72)CAG>AAG		transmembrane protein 200A							107.0	113.0	111.0					6																	130761637		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130761637C>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.70C>A	6.37:g.130761637C>A	ENSP00000296978:p.Gln24Lys					TMEM200A_uc010kfh.2_Missense_Mutation_p.Q24K|TMEM200A_uc010kfi.2_Missense_Mutation_p.Q24K|TMEM200A_uc003qcb.2_Missense_Mutation_p.Q24K	p.Q24K	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	941	+			24			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.70C>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309146	0.23821	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.3	5.3	0.74995	.	0.447722	0.26166	N	0.025942	T	0.42698	0.1214	L	0.36672	1.1	0.45852	D	0.998718	B	0.14012	0.009	B	0.22152	0.038	T	0.28964	-1.0027	9	0.27082	T	0.32	.	19.3121	0.94192	0.0:1.0:0.0:0.0	.	24	Q86VY9	T200A_HUMAN	K	24	.	ENSP00000296978:Q24K	Q	+	1	0	TMEM200A	130803330	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.453000	0.52978	2.623000	0.88846	0.650000	0.86243	CAG		0.537	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		29	109	1	0	7.38237e-10	0.00632	9.55141e-10	29	109				
SLC35D3	340146	broad.mit.edu	37	6	137245704	137245704	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:137245704C>T	ENST00000331858.4	+	2	1286	c.1121C>T	c.(1120-1122)gCt>gTt	p.A374V		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	374					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)		p.A374V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCGCTGGTGGCTGGGAGCTCT	0.587																																							uc003qhe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1120-1122)GCT>GTT		solute carrier family 35, member D3							69.0	79.0	75.0					6																	137245704		2203	4300	6503	SO:0001583	missense	340146				carbohydrate transport	integral to membrane		g.chr6:137245704C>T		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1121C>T	6.37:g.137245704C>T	ENSP00000333591:p.Ala374Val						p.A374V	NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	1286	+	Colorectal(23;0.24)		374					B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	c.1121C>T	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043260	0.36085	.	.	ENSG00000182747	ENST00000331858	T	0.56776	0.44	6.06	5.07	0.68467	.	0.476807	0.21158	N	0.079219	T	0.17280	0.0415	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13308	-1.0514	10	0.72032	D	0.01	-0.7063	9.1761	0.37112	0.0:0.8039:0.0:0.1961	.	374	Q5M8T2	S35D3_HUMAN	V	374	ENSP00000333591:A374V	ENSP00000333591:A374V	A	+	2	0	SLC35D3	137287397	0.000000	0.05858	0.016000	0.15963	0.882000	0.50991	0.378000	0.20569	1.318000	0.45170	0.655000	0.94253	GCT		0.587	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		13	28	0	0	0	0.001855	0	13	28				
GPR126	57211	broad.mit.edu	37	6	142725021	142725021	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:142725021G>C	ENST00000230173.6	+	14	2514	c.2038G>C	c.(2038-2040)Gct>Cct	p.A680P	GPR126_ENST00000367608.2_Missense_Mutation_p.A652P|GPR126_ENST00000296932.8_Missense_Mutation_p.A652P|GPR126_ENST00000367609.3_Missense_Mutation_p.A680P	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	680					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A680P(1)|p.A651P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCGGAACTTGGCTCTCAGCGT	0.368																																							uc010khc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2038-2040)GCT>CCT		G protein-coupled receptor 126 alpha 1							110.0	107.0	108.0					6																	142725021		1876	4124	6000	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142725021G>C	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2038G>C	6.37:g.142725021G>C	ENSP00000230173:p.Ala680Pro					GPR126_uc010khd.2_Missense_Mutation_p.A652P|GPR126_uc010khe.2_Missense_Mutation_p.A680P|GPR126_uc010khf.2_Missense_Mutation_p.A652P	p.A680P	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	14	2449	+	Breast(32;0.176)		680			Extracellular (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.2038G>C	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793132	0.90453	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.36157	1.27;1.27;1.28;1.27	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000003	T	0.55721	0.1938	M	0.72894	2.215	0.44207	D	0.997034	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.992;0.983	T	0.58042	-0.7706	10	0.87932	D	0	.	19.3681	0.94473	0.0:0.0:1.0:0.0	.	652;680;652;680	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	P	680;652;652;680	ENSP00000230173:A680P;ENSP00000356580:A652P;ENSP00000296932:A652P;ENSP00000356581:A680P	ENSP00000230173:A680P	A	+	1	0	GPR126	142766714	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.333000	0.72939	2.748000	0.94277	0.655000	0.94253	GCT		0.368	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			30	52	0	0	0	0.010818	0	30	52				
SHPRH	257218	broad.mit.edu	37	6	146262953	146262953	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:146262953C>G	ENST00000367505.2	-	10	2560	c.2296G>C	c.(2296-2298)Gat>Cat	p.D766H	SHPRH_ENST00000438092.2_Missense_Mutation_p.D766H|SHPRH_ENST00000275233.7_Missense_Mutation_p.D766H|SHPRH_ENST00000367503.3_Missense_Mutation_p.D766H			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	766	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D766H(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATAACTATATCCTGTTCTGCC	0.388																																							uc003qlf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2296-2298)GAT>CAT		SNF2 histone linker PHD RING helicase isoform a							61.0	62.0	62.0					6																	146262953		1906	4117	6023	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146262953C>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2296G>C	6.37:g.146262953C>G	ENSP00000356475:p.Asp766His					SHPRH_uc003qld.2_Missense_Mutation_p.D766H|SHPRH_uc003qle.2_Missense_Mutation_p.D766H|SHPRH_uc003qlg.1_Missense_Mutation_p.D322H|SHPRH_uc003qlj.1_Missense_Mutation_p.D655H	p.D766H	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	10	2695	-		Ovarian(120;0.0365)	766			Helicase ATP-binding; second part.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.2296G>C	CCDS43513.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.874088|4.874088	0.91664|0.91664	.|.	.|.	ENSG00000146414|ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233|ENST00000444767	D;D;D;D|.	0.94723|.	-3.5;-3.5;-3.5;-3.5|.	6.02|6.02	6.02|6.02	0.97574|0.97574	DEAD-like helicase (1);SNF2-related (1);|.	0.063963|.	0.64402|.	D|.	0.000009|.	D|D	0.82472|0.82472	0.5044|0.5044	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.995;0.994|.	D;D;P|.	0.71870|.	0.975;0.929;0.883|.	D|D	0.83690|0.83690	0.0176|0.0176	10|6	0.87932|0.87932	D|D	0|0	-22.3421|-22.3421	20.5373|20.5373	0.99239|0.99239	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	655;766;766|.	Q149N8-2;Q149N8;Q149N8-4|.	.;SHPRH_HUMAN;.|.	H|A	766|654	ENSP00000356475:D766H;ENSP00000356473:D766H;ENSP00000412797:D766H;ENSP00000275233:D766H|.	ENSP00000275233:D766H|ENSP00000388065:G654A	D|G	-|-	1|2	0|0	SHPRH|SHPRH	146304646|146304646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.461000|7.461000	0.80834|0.80834	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.388	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		9	42	0	0	0	0.004482	0	9	42				
IYD	389434	broad.mit.edu	37	6	150690185	150690185	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:150690185C>T	ENST00000344419.3	+	1	158	c.18C>T	c.(16-18)ccC>ccT	p.P6P	IYD_ENST00000392256.2_Silent_p.P6P|IYD_ENST00000229447.5_Silent_p.P6P|IYD_ENST00000425615.3_5'Flank|IYD_ENST00000500320.3_Silent_p.P6P|IYD_ENST00000392255.3_Silent_p.P6P	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	6					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)	p.P6P(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TCCTGACTCCCATCTTGGTAG	0.502																																							uc003qnu.1		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(16-18)CCC>CCT		iodotyrosine dehalogenase 1 isoform 2							225.0	241.0	236.0					6																	150690185		2203	4300	6503	SO:0001819	synonymous_variant	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150690185C>T	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.18C>T	6.37:g.150690185C>T						IYD_uc003qnv.1_Silent_p.P6P|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Silent_p.P6P|IYD_uc010kik.1_5'UTR	p.P6P	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	1	158	+		Ovarian(120;0.028)	6					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Silent	SNP	ENST00000344419.3	37	c.18C>T	CCDS5227.1																																																																																				0.502	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		111	167	0	0	0	0.00361	0	111	167				
PARK2	5071	broad.mit.edu	37	6	161771171	161771171	+	Missense_Mutation	SNP	C	C	A	rs137853056		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:161771171C>A	ENST00000366898.1	-	12	1460	c.1358G>T	c.(1357-1359)tGg>tTg	p.W453L	PARK2_ENST00000338468.3_Missense_Mutation_p.W262L|PARK2_ENST00000366897.1_Missense_Mutation_p.W425L|PARK2_ENST00000366894.1_Missense_Mutation_p.W262L|PARK2_ENST00000366896.1_Missense_Mutation_p.W304L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	453					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.W453L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GACGCGGTTCCACTCGCAGCC	0.637																																							uc003qtx.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1	GRCh37	CM991009	PARK2	M	rs137853056	c.(1357-1359)TGG>TTG		parkin isoform 1							46.0	40.0	42.0					6																	161771171		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161771171C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1358G>T	6.37:g.161771171C>A	ENSP00000355865:p.Trp453Leu					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.W262L|PARK2_uc003qtw.3_3'UTR|PARK2_uc003qty.3_Missense_Mutation_p.W425L|PARK2_uc003qtz.3_Missense_Mutation_p.W304L|PARK2_uc011egf.1_Missense_Mutation_p.W127L	p.W453L	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	12	1492	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	453					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.1358G>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858114	0.91433	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.27	5.27	0.74061	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	L	0.52266	1.64	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.88266	0.2926	10	0.87932	D	0	.	15.8117	0.78571	0.0:1.0:0.0:0.0	.	304;425;453	Q5VVX3;Q5VVX4;O60260	.;.;PRKN2_HUMAN	L	453;425;304;262;262	ENSP00000355865:W453L;ENSP00000355863:W425L;ENSP00000355862:W304L;ENSP00000355860:W262L;ENSP00000343589:W262L	ENSP00000343589:W262L	W	-	2	0	PARK2	161691161	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.476000	0.66793	2.457000	0.83068	0.563000	0.77884	TGG		0.637	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			3	16	1	0	0.004672	0.004672	0.00494798	3	16				
C6orf118	168090	broad.mit.edu	37	6	165715541	165715541	+	Silent	SNP	G	G	T	rs200236975		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:165715541G>T	ENST00000230301.8	-	2	290	c.270C>A	c.(268-270)cgC>cgA	p.R90R	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	90								p.R90R(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTCAGAGGCGCGCTCCCCCT	0.657																																							uc003qum.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(268-270)CGC>CGA		hypothetical protein LOC168090							69.0	78.0	75.0					6																	165715541		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715541G>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.270C>A	6.37:g.165715541G>T						C6orf118_uc011egi.1_RNA	p.R90R	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	306	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	90					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.270C>A	CCDS5288.1																																																																																				0.657	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		37	54	1	0	2.75727e-19	0.004878	4.35268e-19	37	54				
T	6862	broad.mit.edu	37	6	166574359	166574359	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:166574359C>A	ENST00000296946.2	-	8	1468	c.1000G>T	c.(1000-1002)Gtg>Ttg	p.V334L	T_ENST00000366871.3_Missense_Mutation_p.V276L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	334					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V334L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TTGTGGCTCACGGGGAGCATG	0.542									Chordoma, Familial Clustering of																														uc003quu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1000-1002)GTG>TTG		transcription factor T							156.0	139.0	145.0					6																	166574359		2203	4300	6503	SO:0001583	missense	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166574359C>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1000G>T	6.37:g.166574359C>A	ENSP00000296946:p.Val334Leu					T_uc003qut.1_Missense_Mutation_p.V335L|T_uc003quv.1_Missense_Mutation_p.V276L	p.V334L	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	8	1493	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	334					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.1000G>T	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	C	7.949	0.744416	0.15710	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D	0.82893	-1.66;-1.6	4.68	-8.79	0.00820	.	0.130061	0.47093	U	0.000247	T	0.36524	0.0970	N	0.11064	0.09	0.22851	N	0.998654	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.10450	0.001;0.002;0.005	T	0.42716	-0.9435	10	0.02654	T	1	.	19.1671	0.93561	0.0:0.1134:0.0:0.8866	.	276;334;276	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	L	334;334;276	ENSP00000296946:V334L;ENSP00000355836:V276L	ENSP00000296946:V334L	V	-	1	0	T	166494349	0.995000	0.38212	0.222000	0.23844	0.082000	0.17680	0.367000	0.20382	-2.143000	0.00803	-1.648000	0.00760	GTG		0.542	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		46	59	1	0	1.61004e-24	0.00361	2.71221e-24	46	59				
THSD7A	221981	broad.mit.edu	37	7	11676130	11676130	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:11676130G>T	ENST00000423059.4	-	2	900	c.649C>A	c.(649-651)Cgg>Agg	p.R217R	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	217	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R217R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGACGCGTCCGGTGCTGGAGC	0.617										HNSCC(18;0.044)																													uc003ssf.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(649-651)CGG>AGG		thrombospondin, type I, domain containing 7A							31.0	32.0	31.0					7																	11676130		1992	4171	6163	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11676130G>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.649C>A	7.37:g.11676130G>T		HNSCC(18;0.044)					p.R217R	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	901	-			217			Extracellular (Potential).|TSP type-1 2.			Silent	SNP	ENST00000423059.4	37	c.649C>A	CCDS47543.1																																																																																				0.617	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		7	31	1	0	0.00198382	0.001984	0.00211889	7	31				
ITGB8	3696	broad.mit.edu	37	7	20441685	20441685	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:20441685G>T	ENST00000222573.4	+	10	2307	c.1623G>T	c.(1621-1623)gtG>gtT	p.V541V	ITGB8_ENST00000537992.1_Silent_p.V406V	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	541	Cysteine-rich tandem repeats.				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)	p.V541V(2)		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						TTGGAAAAGTGTATGGAAAAT	0.398																																							uc003suu.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)	3						c.(1621-1623)GTG>GTT		integrin, beta 8 precursor							133.0	138.0	136.0					7																	20441685		2203	4300	6503	SO:0001819	synonymous_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20441685G>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.1623G>T	7.37:g.20441685G>T						ITGB8_uc011jyh.1_Silent_p.V406V	p.V541V	NM_002214	NP_002205	P26012	ITB8_HUMAN			10	2328	+			541			Cysteine-rich tandem repeats.|II.|Extracellular (Potential).		A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	c.1623G>T	CCDS5370.1																																																																																				0.398	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		50	159	1	0	3.19069e-20	0.00361	5.13373e-20	50	159				
DNAH11	8701	broad.mit.edu	37	7	21788210	21788210	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:21788210C>T	ENST00000409508.3	+	52	8554	c.8523C>T	c.(8521-8523)agC>agT	p.S2841S	DNAH11_ENST00000328843.6_Silent_p.S2848S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2848	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S2848S(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCGCATCAGCCGGATCTTAC	0.507									Kartagener syndrome																														uc003svc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(8542-8544)AGC>AGT		dynein, axonemal, heavy chain 11							52.0	53.0	52.0					7																	21788210		1927	4135	6062	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21788210C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8523C>T	7.37:g.21788210C>T							p.S2848S	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			53	8575	+			2848			AAA 4 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.8544C>T																																																																																					0.507	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	40	0	0	0	0.004482	0	7	40				
DDC	1644	broad.mit.edu	37	7	50607692	50607692	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:50607692T>A	ENST00000444124.2	-	3	436	c.236A>T	c.(235-237)tAc>tTc	p.Y79F	DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000380984.4_Missense_Mutation_p.Y79F|DDC_ENST00000431062.1_Missense_Mutation_p.Y79F|DDC_ENST00000357936.5_Missense_Mutation_p.Y79F|DDC_ENST00000426377.1_Intron	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	79	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.Y79F(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	AGTGGGGAAGTAGGCGAAGAA	0.642																																							uc003tpf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(235-237)TAC>TTC		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						108.0	88.0	94.0					7																	50607692		2202	4300	6502	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50607692T>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.236A>T	7.37:g.50607692T>A	ENSP00000403644:p.Tyr79Phe					DDC_uc010kza.2_Missense_Mutation_p.Y79F|DDC_uc003tpg.3_Missense_Mutation_p.Y79F	p.Y79F	NM_000790	NP_000781	P20711	DDC_HUMAN			3	322	-	Glioma(55;0.08)|all_neural(89;0.245)		79			1.|2 X approximate tandem repeats.		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.236A>T	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.192652|5.192652	0.94960|0.94960	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	.|T;T;T;T	.|0.39406	.|1.08;1.08;1.08;1.08	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51584|0.51584	0.1683|0.1683	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|P;P	.|0.43885	.|0.82;0.82	.|P;P	.|0.46758	.|0.526;0.526	T|T	0.57341|0.57341	-0.7828|-0.7828	5|10	.|0.87932	.|D	.|0	-28.7612|-28.7612	15.6119|15.6119	0.76727|0.76727	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|79;79	.|Q53Y41;P20711	.|.;DDC_HUMAN	S|F	45|79	.|ENSP00000350616:Y79F;ENSP00000399184:Y79F;ENSP00000403644:Y79F;ENSP00000370371:Y79F	.|ENSP00000350616:Y79F	T|Y	-|-	1|2	0|0	DDC|DDC	50575186|50575186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	8.008000|8.008000	0.88588|0.88588	2.080000|2.080000	0.62538|0.62538	0.533000|0.533000	0.62120|0.62120	ACT|TAC		0.642	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			41	19	0	0	0	0.013114	0	41	19				
VOPP1	81552	broad.mit.edu	37	7	55565340	55565340	+	Missense_Mutation	SNP	G	G	A	rs564823906		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:55565340G>A	ENST00000285279.5	-	3	357	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	VOPP1_ENST00000433959.1_Missense_Mutation_p.R44W|VOPP1_ENST00000418904.1_Missense_Mutation_p.R36W|VOPP1_ENST00000471168.1_5'UTR|VOPP1_ENST00000428097.1_5'UTR|VOPP1_ENST00000427700.1_Missense_Mutation_p.R51W|VOPP1_ENST00000453256.1_5'UTR|VOPP1_ENST00000428648.1_5'UTR|VOPP1_ENST00000454227.1_Intron|VOPP1_ENST00000545390.1_Missense_Mutation_p.R50W	NM_001284282.1|NM_030796.3	NP_001271211.1|NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	53					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|integral component of organelle membrane (GO:0031301)	signal transducer activity (GO:0004871)	p.R53W(2)|p.A15V(2)		endometrium(1)|lung(4)	5						GAGAGGGCCCGCACACAGCAC	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14824	0.0		0.0	False		,,,				2504	0.0						uc003tqs.2		NA																	4	Substitution - Missense(4)		lung(4)		0						c.(157-159)CGG>TGG		EGFR-coamplified and overexpressed protein							55.0	65.0	61.0					7																	55565340		2084	4210	6294	SO:0001583	missense	81552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity	g.chr7:55565340G>A		CCDS47588.1, CCDS64654.1, CCDS64656.1	7p11.2	2010-06-22			ENSG00000154978	ENSG00000154978			34518	protein-coding gene	gene with protein product	"""Glioblastoma-amplified secreted protein"", ""EGFR-coamplified and overexpressed protein"""	611915				15735698	Standard	NM_030796		Approved	ECop, GASP, FLJ20532, DKFZp564K0822	uc003tqs.3	Q96AW1	OTTHUMG00000156124	ENST00000285279.5:c.157C>T	7.37:g.55565340G>A	ENSP00000285279:p.Arg53Trp					VOPP1_uc003tqq.2_Missense_Mutation_p.R44W|VOPP1_uc010kzh.2_Missense_Mutation_p.R50W|VOPP1_uc010kzi.2_Missense_Mutation_p.R36W|VOPP1_uc011kcr.1_5'UTR	p.R53W	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN			3	340	-			53			Extracellular (Potential).		B0AZU1|B2RAT4|B3KS72|C9JWR3|Q6FIE3|Q8NBN8|Q96RE5|Q9H0W4	Missense_Mutation	SNP	ENST00000285279.5	37	c.157C>T	CCDS47588.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681437	0.68042	.	.	ENSG00000154978	ENST00000285279;ENST00000433959;ENST00000545390;ENST00000418904;ENST00000427700	.	.	.	4.95	4.06	0.47325	.	.	.	.	.	T	0.64371	0.2592	L	0.29908	0.895	0.48087	D	0.999585	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.997;0.997	T	0.67292	-0.5707	8	0.87932	D	0	-15.6602	12.6143	0.56567	0.0:0.0:0.8336:0.1664	.	36;50;53;44	C9JWR3;B0AZU1;Q96AW1;B3KS72	.;.;VOPP1_HUMAN;.	W	53;44;50;36;51	.	ENSP00000285279:R53W	R	-	1	2	VOPP1	55532834	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.734000	0.38166	1.040000	0.40099	0.313000	0.20887	CGG		0.627	VOPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343074.1	NM_030796		4	174	0	0	0	0.000602	0	4	174				
ZNF107	51427	broad.mit.edu	37	7	64166746	64166746	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:64166746A>G	ENST00000395391.1	+	4	1439	c.64A>G	c.(64-66)Ata>Gta	p.I22V	ZNF107_ENST00000423627.1_Missense_Mutation_p.I22V|ZNF107_ENST00000344930.3_Missense_Mutation_p.I22V			Q9UII5	ZN107_HUMAN	zinc finger protein 107	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I22V(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGAGCAGAACATAAAAGATTC	0.338																																							uc003ttd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(64-66)ATA>GTA		zinc finger protein 107							58.0	58.0	58.0					7																	64166746		2203	4300	6503	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64166746A>G	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.64A>G	7.37:g.64166746A>G	ENSP00000378789:p.Ile22Val					ZNF107_uc003tte.2_Missense_Mutation_p.I22V	p.I22V	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	850	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	22						Missense_Mutation	SNP	ENST00000395391.1	37	c.64A>G	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	7.488	0.650090	0.14516	.	.	ENSG00000196247	ENST00000541526;ENST00000360117;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T;T	0.08546	4.63;3.08;3.08;3.08	1.2	1.2	0.21068	.	.	.	.	.	T	0.12561	0.0305	M	0.85041	2.73	0.09310	N	1	B	0.20368	0.044	B	0.21360	0.034	T	0.25222	-1.0138	9	0.51188	T	0.08	.	4.4162	0.11457	1.0:0.0:0.0:0.0	.	22	Q9UII5	ZN107_HUMAN	V	22	ENSP00000353234:I22V;ENSP00000343443:I22V;ENSP00000400037:I22V;ENSP00000378789:I22V	ENSP00000343443:I22V	I	+	1	0	ZNF107	63804181	0.000000	0.05858	0.179000	0.23059	0.483000	0.33249	-0.156000	0.10100	0.478000	0.27488	0.254000	0.18369	ATA		0.338	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		24	58	0	0	0	0.009535	0	24	58				
TYW1B	441250	broad.mit.edu	37	7	72281203	72281203	+	RNA	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:72281203C>A	ENST00000435769.2	-	0	408				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GTTGGTAGGCCGTCAGTGTAT	0.418																																							uc011kej.1		NA																	0					0						c.(286-288)GGC>TGC		tRNA-yW synthesizing protein 1 homolog B isoform							209.0	161.0	176.0					7																	72281203		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72281203C>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72281203C>A						TYW1B_uc011keh.1_Intron|TYW1B_uc011kek.1_Intron	p.G96C	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			4	445	-			96			Flavodoxin-like.		A6NG09|B4DFY2|Q3KQX2	Missense_Mutation	SNP	ENST00000435769.2	37	c.286G>T																																																																																					0.418	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		23	98	1	0	4.26978e-12	0.00333	5.84571e-12	23	98				
PCLO	27445	broad.mit.edu	37	7	82579765	82579765	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:82579765C>A	ENST00000333891.9	-	6	10476	c.10139G>T	c.(10138-10140)gGt>gTt	p.G3380V	PCLO_ENST00000437081.1_Missense_Mutation_p.G100V|PCLO_ENST00000423517.2_Missense_Mutation_p.G3380V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G3380V(2)|p.G3311V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGAGTAACACCATCAGACTG	0.438																																							uc003uhx.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(10138-10140)GGT>GTT		piccolo isoform 1							86.0	85.0	86.0					7																	82579765		1967	4151	6118	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579765C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10139G>T	7.37:g.82579765C>A	ENSP00000334319:p.Gly3380Val					PCLO_uc003uhv.2_Missense_Mutation_p.G3380V|PCLO_uc010lec.2_Missense_Mutation_p.G345V	p.G3380V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10428	-			3311						Missense_Mutation	SNP	ENST00000333891.9	37	c.10139G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	7.990	0.753038	0.15778	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.34072	2.18;2.18;1.38	5.32	5.32	0.75619	.	.	.	.	.	T	0.58119	0.2100	M	0.66939	2.045	0.58432	D	0.999997	P;D;D	0.63880	0.915;0.985;0.993	B;P;P	0.61533	0.388;0.865;0.89	T	0.60919	-0.7167	9	0.87932	D	0	.	19.3635	0.94453	0.0:1.0:0.0:0.0	.	3311;3380;3380	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	V	3311;3380;3380;100	ENSP00000334319:G3380V;ENSP00000388393:G3380V;ENSP00000393760:G100V	ENSP00000334319:G3380V	G	-	2	0	PCLO	82417701	0.999000	0.42202	0.836000	0.33094	0.228000	0.25075	5.691000	0.68249	2.651000	0.90000	0.563000	0.77884	GGT		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		16	35	1	0	8.60227e-14	0.004007	1.21987e-13	16	35				
PCLO	27445	broad.mit.edu	37	7	82582433	82582433	+	Silent	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:82582433A>G	ENST00000333891.9	-	5	8173	c.7836T>C	c.(7834-7836)gaT>gaC	p.D2612D	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Silent_p.D2612D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.D2612D(2)|p.D2543D(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAAACCAGATCTTTGGAGG	0.433																																							uc003uhx.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(7)	7						c.(7834-7836)GAT>GAC		piccolo isoform 1							127.0	120.0	122.0					7																	82582433		1853	4105	5958	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582433A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7836T>C	7.37:g.82582433A>G						PCLO_uc003uhv.2_Silent_p.D2612D|PCLO_uc010lec.2_5'Flank	p.D2612D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	8125	-			2543						Silent	SNP	ENST00000333891.9	37	c.7836T>C	CCDS47630.1																																																																																				0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		74	96	0	0	0	0.00361	0	74	96				
SEMA3D	223117	broad.mit.edu	37	7	84751060	84751060	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:84751060T>A	ENST00000284136.6	-	1	191	c.148A>T	c.(148-150)Aaa>Taa	p.K50*	SEMA3D_ENST00000444867.1_Nonsense_Mutation_p.K50*	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	50	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.K50*(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATTTACCTTTGTAGGTTAGC	0.299																																					Ovarian(63;442 1191 17318 29975 31528)	Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(2)	5						c.(148-150)AAA>TAA		semaphorin 3D precursor							48.0	49.0	49.0					7																	84751060		2202	4300	6502	SO:0001587	stop_gained	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84751060T>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.148A>T	7.37:g.84751060T>A	ENSP00000284136:p.Lys50*					SEMA3D_uc010led.2_Nonsense_Mutation_p.K50*|SEMA3D_uc010lee.1_Nonsense_Mutation_p.K50*	p.K50*	NM_152754	NP_689967	O95025	SEM3D_HUMAN			1	188	-			50			Sema.		A6NK46|Q6UW77|Q8NCQ1	Nonsense_Mutation	SNP	ENST00000284136.6	37	c.148A>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	38	7.072063	0.98044	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	.	.	.	5.61	5.61	0.85477	.	0.365474	0.33199	N	0.005161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6104	0.62074	0.0:0.0:0.0:1.0	.	.	.	.	X	50	.	ENSP00000284136:K50X	K	-	1	0	SEMA3D	84588996	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.157000	0.50716	2.252000	0.74401	0.528000	0.53228	AAA		0.299	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		10	31	0	0	0	0.008291	0	10	31				
ABCB1	5243	broad.mit.edu	37	7	87135292	87135292	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:87135292A>G	ENST00000265724.3	-	28	3974	c.3557T>C	c.(3556-3558)aTa>aCa	p.I1186T	ABCB1_ENST00000543898.1_Missense_Mutation_p.I1122T|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1186	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.I1186T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GGCACGAGCTATGGCAATGCG	0.403																																							uc003uiz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3556-3558)ATA>ACA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						178.0	163.0	168.0					7																	87135292		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87135292A>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3557T>C	7.37:g.87135292A>G	ENSP00000265724:p.Ile1186Thr					ABCB1_uc011khc.1_Missense_Mutation_p.I1122T	p.I1186T	NM_000927	NP_000918	P08183	MDR1_HUMAN			28	3975	-	Esophageal squamous(14;0.00164)		1186			Cytoplasmic (Potential).|ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3557T>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710751	0.89112	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.96136	-3.92;-3.92	5.94	5.94	0.96194	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;0.985	D;D	0.85130	0.997;0.965	D	0.98760	1.0724	10	0.87932	D	0	-25.2497	15.5887	0.76506	1.0:0.0:0.0:0.0	.	1122;1186	B5AK60;P08183	.;MDR1_HUMAN	T	967;1186;1122	ENSP00000265724:I1186T;ENSP00000444095:I1122T	ENSP00000265724:I1186T	I	-	2	0	ABCB1	86973228	1.000000	0.71417	0.938000	0.37757	0.988000	0.76386	9.324000	0.96373	2.275000	0.75901	0.528000	0.53228	ATA		0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		41	84	0	0	0	0.009718	0	41	84				
DBF4	10926	broad.mit.edu	37	7	87536810	87536811	+	Missense_Mutation	DNP	CT	CT	GA			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:87536810_87536811CT>GA	ENST00000265728.1	+	12	1861_1862	c.1357_1358CT>GA	c.(1357-1359)CTa>GAa	p.L453E		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	453					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L453E(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACAGCTACCTCTACATAAAAAC	0.322																																							uc003ujf.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1357-1359)CTA>GAA		activator of S phase kinase																																				SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87536810_87536811CT>GA	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	Exception_encountered	7.37:g.87536810_87536811delinsGA	ENSP00000265728:p.Leu453Glu					DBF4_uc003ujh.1_Missense_Mutation_p.L193E|DBF4_uc003ujg.1_Missense_Mutation_p.L229E|DBF4_uc011khf.1_Missense_Mutation_p.L220E	p.L453E	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			12	1861_1862	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	453					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	DNP	ENST00000265728.1	37	c.1357_1358CT>GA	CCDS5611.1																																																																																				0.322	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		17	27	0	0	0	0.004672	0	17	27				
CFAP69	79846	broad.mit.edu	37	7	89900854	89900854	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:89900854A>T	ENST00000389297.4	+	7	798	c.547A>T	c.(547-549)Agt>Tgt	p.S183C	C7orf63_ENST00000316089.8_Missense_Mutation_p.S183C|AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Missense_Mutation_p.S165C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		183								p.S183C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CCAGCAAGCGAGTTCATCATA	0.323																																							uc010lep.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(547-549)AGT>TGT		hypothetical protein LOC79846 isoform 1							100.0	93.0	95.0					7																	89900854		1848	4094	5942	SO:0001583	missense	79846						binding	g.chr7:89900854A>T																												ENST00000389297.4:c.547A>T	7.37:g.89900854A>T	ENSP00000373948:p.Ser183Cys					C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Missense_Mutation_p.S165C|C7orf63_uc010leo.2_Missense_Mutation_p.S181C	p.S183C	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			7	798	+			183					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.547A>T	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	A	12.23	1.874424	0.33069	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	6.02	3.65	0.41850	.	0.390956	0.29178	N	0.012902	T	0.58366	0.2117	M	0.73598	2.24	0.23936	N	0.996413	P;D;B	0.67145	0.843;0.996;0.005	B;P;B	0.59288	0.269;0.855;0.003	T	0.52881	-0.8516	10	0.62326	D	0.03	-10.6305	5.393	0.16253	0.7353:0.0:0.1351:0.1297	.	165;183;181	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	C	183;183;165;123	ENSP00000373948:S183C;ENSP00000321753:S183C;ENSP00000419549:S165C;ENSP00000392365:S123C	ENSP00000321753:S183C	S	+	1	0	C7orf63	89738790	0.925000	0.31364	0.824000	0.32777	0.868000	0.49771	2.238000	0.43070	0.519000	0.28406	-0.403000	0.06358	AGT		0.323	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			25	53	0	0	0	0.005443	0	25	53				
COL1A2	1278	broad.mit.edu	37	7	94054961	94054961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:94054961C>T	ENST00000297268.6	+	43	3292	c.2821C>T	c.(2821-2823)Caa>Taa	p.Q941*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	941					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.Q941*(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCGCGATGGTCAACCCGGACA	0.483										HNSCC(75;0.22)																													uc003ung.1		NA																COL1A2/PLAG1(3)	1	Substitution - Nonsense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2821-2823)CAA>TAA		alpha 2 type I collagen precursor	Collagenase(DB00048)						115.0	104.0	108.0					7																	94054961		2203	4300	6503	SO:0001587	stop_gained	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94054961C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2821C>T	7.37:g.94054961C>T	ENSP00000297268:p.Gln941*	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.Q941*	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		43	3292	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		941					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Nonsense_Mutation	SNP	ENST00000297268.6	37	c.2821C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	44	10.578927	0.99431	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.32	4.44	0.53790	.	0.521732	0.19849	N	0.104689	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	10.3977	0.44211	0.0:0.752:0.1706:0.0773	.	.	.	.	X	941;942	.	ENSP00000297268:Q941X	Q	+	1	0	COL1A2	93892897	0.981000	0.34729	0.996000	0.52242	0.849000	0.48306	1.510000	0.35790	1.636000	0.50526	-0.136000	0.14681	CAA		0.483	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		21	38	0	0	0	0.00278	0	21	38				
PON3	5446	broad.mit.edu	37	7	94991730	94991730	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:94991730G>A	ENST00000265627.5	-	8	860	c.850C>T	c.(850-852)Cat>Tat	p.H284Y	PON3_ENST00000451904.1_Silent_p.A266A|PON3_ENST00000427422.1_Intron|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	284					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.H284Y(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	GGATTAGGATGGCATCCTGCC	0.478																																							uc003unt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(850-852)CAT>TAT		paraoxonase 3							87.0	82.0	84.0					7																	94991730		2203	4300	6503	SO:0001583	missense	5446				aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity	g.chr7:94991730G>A	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.850C>T	7.37:g.94991730G>A	ENSP00000265627:p.His284Tyr					PON1_uc011kih.1_Intron	p.H284Y	NM_000940	NP_000931	Q15166	PON3_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		8	875	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		284					A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	c.850C>T	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317488	0.81469	.	.	ENSG00000105852	ENST00000265627	T	0.39997	1.05	4.98	4.98	0.66077	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.70996	0.3288	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77024	-0.2741	10	0.87932	D	0	-24.9548	18.4423	0.90671	0.0:0.0:1.0:0.0	.	284	Q15166	PON3_HUMAN	Y	284	ENSP00000265627:H284Y	ENSP00000265627:H284Y	H	-	1	0	PON3	94829666	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.838000	0.86804	2.755000	0.94549	0.650000	0.86243	CAT		0.478	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		10	24	0	0	0	0.001855	0	10	24				
SHFM1	7979	broad.mit.edu	37	7	96318269	96318269	+	Silent	SNP	T	T	C	rs202151961		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:96318269T>C	ENST00000248566.2	-	3	307	c.180A>G	c.(178-180)ctA>ctG	p.L60L	SHFM1_ENST00000413065.1_Intron|SHFM1_ENST00000444799.1_Intron|SHFM1_ENST00000417009.1_Intron	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	60					double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)		p.L60L(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					CATGTTTCTCTAGTTCAGCTC	0.318								Homologous recombination																															uc003uoi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(178-180)CTA>CTG	Direct_reversal_of_damage|Homologous_recombination	split hand/foot malformation type 1							115.0	106.0	109.0					7																	96318269		2203	4300	6503	SO:0001819	synonymous_variant	7979				proteolysis	proteasome complex	peptidase activity|protein binding	g.chr7:96318269T>C	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"""deleted in split-hand/foot 1"""	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.180A>G	7.37:g.96318269T>C						SHFM1_uc010lfn.1_Intron	p.L60L	NM_006304	NP_006295	P60896	DSS1_HUMAN			3	308	-	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)		60					Q13437|Q61067	Silent	SNP	ENST00000248566.2	37	c.180A>G	CCDS5646.1																																																																																				0.318	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319595.1	NM_006304		14	47	0	0	0	0.004007	0	14	47				
PILRB	29990	broad.mit.edu	37	7	99956677	99956677	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:99956677G>T	ENST00000452089.1	+	7	1488	c.429G>T	c.(427-429)aaG>aaT	p.K143N	STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000444073.1_Missense_Mutation_p.K143N|PILRB_ENST00000610247.1_Missense_Mutation_p.K143N|PILRB_ENST00000609309.1_Missense_Mutation_p.K143N|PILRB_ENST00000448382.1_Missense_Mutation_p.G196W			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	143	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)		p.K143N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTCCATCAAGGGGACCAAAC	0.567																																							uc003uuk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(427-429)AAG>AAT		paired immunoglobulin-like type 2 receptor beta							60.0	60.0	60.0					7																	99956677		2203	4300	6503	SO:0001583	missense	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99956677G>T	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.429G>T	7.37:g.99956677G>T	ENSP00000391748:p.Lys143Asn					PILRB_uc003uul.2_Missense_Mutation_p.G74W|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Missense_Mutation_p.K143N	p.K143N	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN			16	2925	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		143			Extracellular (Potential).|Ig-like V-type.		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	c.429G>T	CCDS43622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.099|5.099	0.203890|0.203890	0.09704|0.09704	.|.	.|.	ENSG00000121716|ENSG00000121716	ENST00000444874;ENST00000448382|ENST00000310771;ENST00000420688;ENST00000452089;ENST00000444073;ENST00000413850	.|T;T;T	.|0.22134	.|1.97;1.97;1.97	2.5|2.5	-2.86|-2.86	0.05717|0.05717	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|5.297220	.|0.00397	.|N	.|0.000045	T|T	0.10294|0.10294	0.0252|0.0252	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|B	0.89917|0.32203	1.0|0.36	D|B	0.81914|0.33620	0.995|0.167	T|T	0.07290|0.07290	-1.0780|-1.0780	7|9	.|.	.|.	.|.	.|.	3.7832|3.7832	0.08689|0.08689	0.4081:0.1885:0.4034:0.0|0.4081:0.1885:0.4034:0.0	.|.	74|143	Q9UKJ0-2|Q9UKJ0	.|PILRB_HUMAN	W|N	74;196|143;143;143;143;248	.|ENSP00000311153:K143N;ENSP00000391748:K143N;ENSP00000410764:K143N	.|.	G|K	+|+	1|3	0|2	PILRB|PILRB	99794613|99794613	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.004000|0.004000	0.04260|0.04260	-3.179000|-3.179000	0.00569|0.00569	-0.946000|-0.946000	0.03677|0.03677	-0.904000|-0.904000	0.02843|0.02843	GGG|AAG		0.567	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		20	29	1	0	1.33834e-09	0.007413	1.71974e-09	20	29				
MUC17	140453	broad.mit.edu	37	7	100685329	100685329	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:100685329C>A	ENST00000306151.4	+	3	10696	c.10632C>A	c.(10630-10632)tcC>tcA	p.S3544S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3544	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S3544S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTTGACTCCAACACTTTTG	0.483																																							uc003uxp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(10630-10632)TCC>TCA		mucin 17 precursor							229.0	237.0	234.0					7																	100685329		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685329C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10632C>A	7.37:g.100685329C>A						MUC17_uc010lho.1_RNA	p.S3544S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	10685	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3544			Extracellular (Potential).|Ser-rich.|57.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.10632C>A	CCDS34711.1																																																																																				0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		108	253	1	0	6.25226e-48	0.00361	1.1829e-47	108	253				
CUX1	1523	broad.mit.edu	37	7	101916724	101916724	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:101916724A>T	ENST00000437600.4	+	15	1689	c.1337A>T	c.(1336-1338)gAc>gTc	p.D446V	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Missense_Mutation_p.D409V|CUX1_ENST00000292538.4_Missense_Mutation_p.D448V|CUX1_ENST00000425244.2_Missense_Mutation_p.D402V|CUX1_ENST00000547394.2_Missense_Mutation_p.D432V	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.D448V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTGGAGCAGGACCTGAGCATC	0.632																																							uc003uyt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1342-1344)GAC>GTC		cut-like homeobox 1 isoform b							65.0	53.0	57.0					7																	101916724		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101916724A>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1337A>T	7.37:g.101916724A>T	ENSP00000414091:p.Asp446Val					CUX1_uc011kkn.1_Missense_Mutation_p.D409V|CUX1_uc003uyw.2_Missense_Mutation_p.D402V|CUX1_uc003uyv.2_Missense_Mutation_p.D432V|CUX1_uc003uyu.2_Missense_Mutation_p.D446V|CUX1_uc003uyz.2_5'Flank	p.D448V	NM_001913	NP_001904	P39880	CUX1_HUMAN			15	1362	+			305			Potential.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	c.1343A>T	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158074	0.57368	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.75	4.75	0.60458	CASP, C-terminal (1);	.	.	.	.	T	0.76256	0.3962	M	0.90705	3.14	0.54753	D	0.999985	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.998;0.996;0.998	T	0.81697	-0.0815	9	0.87932	D	0	.	12.8226	0.57702	1.0:0.0:0.0:0.0	.	409;402;432;446;448	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	V	448;432;402;446	ENSP00000292538:D448V;ENSP00000449371:D432V;ENSP00000409745:D402V;ENSP00000414091:D446V	ENSP00000292538:D448V	D	+	2	0	CUX1	101703444	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	8.281000	0.89905	1.777000	0.52277	0.459000	0.35465	GAC		0.632	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		12	9	0	0	0	0.010729	0	12	9				
RELN	5649	broad.mit.edu	37	7	103151432	103151433	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:103151432_103151433GG>CT	ENST00000428762.1	-	51	8298_8299	c.8139_8140CC>AG	c.(8137-8142)ttCCat>ttAGat	p.2713_2714FH>LD	RELN_ENST00000343529.5_Missense_Mutation_p.2713_2714FH>LD|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.2713_2714FH>LD	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2713					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)	p.F2713_H2714>LD(1)		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)		CAATCATCATGGAATAGCCAGT	0.386																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(8137-8142)TTCCAT>TTAGAT		reelin isoform a																																				SO:0001583	missense	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.chr7:103151432_103151433GG>CT		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.8139_8140delinsCT	7.37:g.103151432_103151433delinsCT	ENSP00000392423:p.F2713_H2714delinsLD					RELN_uc010liz.2_Missense_Mutation_p.2713_2714FH>LD	p.2713_2714FH>LD	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	51	8299_8300	-			2713_2714					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	DNP	ENST00000428762.1	37	c.8139_8140CC>AG	CCDS47680.1																																																																																				0.386	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		11	37	0	0	0	0.004672	0	11	37				
CDHR3	222256	broad.mit.edu	37	7	105672970	105672970	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:105672970G>A	ENST00000317716.9	+	19	2565	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000542731.1_Missense_Mutation_p.G829R|CDHR3_ENST00000478080.1_Missense_Mutation_p.G741R	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	829					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G829R(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TGCTGGGGAAGGGATGGGGTC	0.552																																							uc003vdl.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2485-2487)GGG>AGG		hypothetical protein LOC222256 precursor							79.0	83.0	82.0					7																	105672970		2061	4219	6280	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105672970G>A	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2485G>A	7.37:g.105672970G>A	ENSP00000325954:p.Gly829Arg					CDHR3_uc003vdk.2_3'UTR|CDHR3_uc003vdm.3_Missense_Mutation_p.G816R|CDHR3_uc011klt.1_Missense_Mutation_p.G741R|CDHR3_uc003vdn.2_3'UTR	p.G829R	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			19	2593	+			829			Cytoplasmic (Potential).		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.2485G>A	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391244	0.42410	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.58060	0.41;0.41;0.36	5.21	4.31	0.51392	.	0.646066	0.13645	N	0.372697	T	0.54870	0.1885	L	0.54323	1.7	0.22001	N	0.999423	P;P	0.46457	0.878;0.878	P;P	0.47864	0.559;0.559	T	0.44877	-0.9299	9	.	.	.	-0.8542	11.1485	0.48444	0.0:0.2425:0.7575:0.0	.	816;829	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	R	829;829;741	ENSP00000439766:G829R;ENSP00000325954:G829R;ENSP00000417771:G741R	.	G	+	1	0	CDHR3	105460206	0.025000	0.19082	0.009000	0.14445	0.047000	0.14425	0.683000	0.25349	1.326000	0.45319	0.655000	0.94253	GGG		0.552	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		18	26	0	0	0	0.007413	0	18	26				
PIK3CG	5294	broad.mit.edu	37	7	106508039	106508039	+	Silent	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:106508039G>C	ENST00000359195.3	+	2	343	c.33G>C	c.(31-33)gtG>gtC	p.V11V	PIK3CG_ENST00000496166.1_Silent_p.V11V|PIK3CG_ENST00000440650.2_Silent_p.V11V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	11					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V11V(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCCCGTGGTGCTGAGAGAGG	0.587																																							uc003vdv.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(31-33)GTG>GTC		phosphoinositide-3-kinase, catalytic, gamma							46.0	53.0	51.0					7																	106508039		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508039G>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.33G>C	7.37:g.106508039G>C						PIK3CG_uc003vdu.2_Silent_p.V11V|PIK3CG_uc003vdw.2_Silent_p.V11V	p.V11V	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	118	+			11					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.33G>C	CCDS5739.1																																																																																				0.587	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			25	46	0	0	0	0.005443	0	25	46				
LAMB4	22798	broad.mit.edu	37	7	107674697	107674697	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:107674697G>T	ENST00000388781.3	-	31	4857	c.4774C>A	c.(4774-4776)Cag>Aag	p.Q1592K	AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000388780.3_Missense_Mutation_p.Q1592K|LAMB4_ENST00000205386.4_Missense_Mutation_p.Q1592K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1592	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.Q1592K(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCAGTCAGCTGTGTAATGGTA	0.353																																							uc010ljo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(4774-4776)CAG>AAG		laminin, beta 4 precursor							269.0	256.0	260.0					7																	107674697		2202	4300	6502	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107674697G>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4774C>A	7.37:g.107674697G>T	ENSP00000373433:p.Gln1592Lys					LAMB4_uc003vey.2_Missense_Mutation_p.Q1592K|LAMB4_uc010ljp.1_Missense_Mutation_p.Q561K	p.Q1592K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			31	4858	-			1592			Potential.|Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4774C>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	2.585	-0.296420	0.05532	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.77489	1.52;1.52;-1.1;1.55	4.88	3.03	0.35002	.	0.327912	0.21835	N	0.068407	T	0.56963	0.2021	N	0.19112	0.55	0.80722	D	1	B;B	0.13594	0.008;0.002	B;B	0.11329	0.006;0.001	T	0.38112	-0.9676	10	0.10902	T	0.67	.	6.2799	0.21001	0.0996:0.1874:0.7129:0.0	.	1592;1592	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	K	1592;1592;618;1592	ENSP00000205386:Q1592K;ENSP00000373433:Q1592K;ENSP00000416562:Q618K;ENSP00000373432:Q1592K	ENSP00000205386:Q1592K	Q	-	1	0	LAMB4	107461933	0.953000	0.32496	0.940000	0.37924	0.372000	0.29890	0.633000	0.24598	0.626000	0.30322	0.655000	0.94253	CAG		0.353	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		53	105	1	0	6.9144e-35	0.00361	1.26066e-34	53	105				
LRRN3	54674	broad.mit.edu	37	7	110763692	110763692	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:110763692G>A	ENST00000422987.3	+	2	1695	c.864G>A	c.(862-864)gaG>gaA	p.E288E	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000451085.1_Silent_p.E288E|LRRN3_ENST00000308478.5_Silent_p.E288E|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	288					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E288E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACTTAAAAGAGTTGGGGATAA	0.328																																							uc003vft.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(862-864)GAG>GAA		leucine rich repeat neuronal 3 precursor							61.0	65.0	63.0					7																	110763692		2203	4300	6503	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110763692G>A	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.864G>A	7.37:g.110763692G>A						IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.E288E|LRRN3_uc003vfs.3_Silent_p.E288E	p.E288E	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1910	+			288			Extracellular (Potential).|LRR 10.		O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.864G>A	CCDS5754.1																																																																																				0.328	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		14	78	0	0	0	0.004007	0	14	78				
WNT16	51384	broad.mit.edu	37	7	120969762	120969762	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:120969762G>T	ENST00000222462.2	+	2	527	c.237G>T	c.(235-237)caG>caT	p.Q79H	WNT16_ENST00000361301.2_Missense_Mutation_p.Q69H	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	79					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.Q69H(1)|p.Q79H(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TGGGCATTCAGGAGTGCGGGA	0.652																																							uc003vjw.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(2)|large_intestine(1)	5						c.(235-237)CAG>CAT		wingless-type MMTV integration site family,							32.0	36.0	35.0					7																	120969762		2203	4300	6503	SO:0001583	missense	51384				anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr7:120969762G>T	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.237G>T	7.37:g.120969762G>T	ENSP00000222462:p.Gln79His					WNT16_uc003vjv.2_Missense_Mutation_p.Q69H|WNT16_uc010lkl.2_Translation_Start_Site	p.Q79H	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN			2	494	+	all_neural(327;0.117)		79					Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	ENST00000222462.2	37	c.237G>T	CCDS5781.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453667	0.26161	.	.	ENSG00000002745	ENST00000361301;ENST00000222462;ENST00000414945	T;T	0.76060	-0.99;-0.99	4.87	3.9	0.45041	.	0.368487	0.31648	N	0.007299	T	0.51176	0.1659	N	0.10664	0.02	0.40683	D	0.982324	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.50659	-0.8802	10	0.38643	T	0.18	.	8.3148	0.32093	0.0916:0.0:0.749:0.1594	.	79;69	Q9UBV4;E9PH60	WNT16_HUMAN;.	H	69;79;20	ENSP00000355065:Q69H;ENSP00000222462:Q79H	ENSP00000222462:Q79H	Q	+	3	2	WNT16	120756998	0.437000	0.25593	1.000000	0.80357	0.993000	0.82548	0.119000	0.15626	2.513000	0.84729	0.655000	0.94253	CAG		0.652	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		24	31	1	0	9.80776e-20	0.00632	1.55807e-19	24	31				
TSPAN33	340348	broad.mit.edu	37	7	128801519	128801519	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:128801519G>T	ENST00000289407.4	+	2	211		c.e2-1			NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33						establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.?(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TGTCTCCACAGGTGATTTCCA	0.552																																							uc003vop.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e2-1		tetraspanin 33							259.0	215.0	230.0					7																	128801519		2203	4300	6503	SO:0001630	splice_region_variant	340348					integral to membrane		g.chr7:128801519G>T		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.103-1G>T	7.37:g.128801519G>T							p.V35_splice	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN			2	332	+									Splice_Site	SNP	ENST00000289407.4	37	c.103_splice	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608781	0.46527	.	.	ENSG00000158457	ENST00000289407	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7074	0.77594	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSPAN33	128588755	1.000000	0.71417	0.998000	0.56505	0.483000	0.33249	7.710000	0.84655	2.302000	0.77476	0.655000	0.94253	.		0.552	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562	Intron	48	105	1	0	3.77171e-38	0.00361	6.99532e-38	48	105				
DGKI	9162	broad.mit.edu	37	7	137341270	137341270	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:137341270C>A	ENST00000288490.5	-	4	623	c.623G>T	c.(622-624)aGg>aTg	p.R208M	DGKI_ENST00000446122.1_Missense_Mutation_p.R208M|DGKI_ENST00000453654.2_De_novo_Start_InFrame|DGKI_ENST00000424189.2_Missense_Mutation_p.R208M	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	208					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)	p.R208M(2)		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						TGCACACTTCCTCCTGAGAGC	0.418											OREG0018350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003vtt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(622-624)AGG>ATG		diacylglycerol kinase, iota							129.0	131.0	131.0					7																	137341270		2203	4300	6503	SO:0001583	missense	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.chr7:137341270C>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.623G>T	7.37:g.137341270C>A	ENSP00000288490:p.Arg208Met		OREG0018350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1632	DGKI_uc003vtu.2_Translation_Start_Site	p.R208M	NM_004717	NP_004708	O75912	DGKI_HUMAN			4	624	-			208			Phorbol-ester/DAG-type 1.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.623G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799797	0.70567	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	D;D	0.84070	-1.8;-1.8	5.36	5.36	0.76844	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	L	0.37466	1.105	0.58432	D	0.999999	D	0.89917	1.0	D	0.70935	0.971	T	0.81640	-0.0841	10	0.17369	T	0.5	.	15.9966	0.80256	0.0:1.0:0.0:0.0	.	208	O75912	DGKI_HUMAN	M	156;208;208;208	ENSP00000288490:R208M;ENSP00000399131:R208M	ENSP00000288490:R208M	R	-	2	0	DGKI	136991810	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.323000	0.59221	2.508000	0.84585	0.484000	0.47621	AGG		0.418	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		85	121	1	0	2.88734e-31	0.00361	5.13987e-31	85	121				
KEL	3792	broad.mit.edu	37	7	142637544	142637544	+	IGR	SNP	C	C	A	rs369000744		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:142637544C>A	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.T105K	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)	p.T105K(1)|p.T80K(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCGTCCAAGACGGCAGCTGTT	0.532																																							uc003wca.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(313-315)ACG>AAG		hypothetical protein LOC135927							224.0	199.0	207.0					7																	142637544		2203	4300	6503	SO:0001628	intergenic_variant	135927					extracellular region		g.chr7:142637544C>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.142637544C>A							p.T105K	NM_178829	NP_849151	Q96L11	CG034_HUMAN			2	355	+	Melanoma(164;0.059)		80					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.314C>A	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.391|8.391	0.839696|0.839696	0.16891|0.16891	.|.	.|.	ENSG00000165131|ENSG00000165131	ENST00000458732|ENST00000409607	.|.	.|.	.|.	4.38|4.38	-0.0178|-0.0178	0.13967|0.13967	.|.	.|1.304930	.|0.05221	.|N	.|0.508498	T|T	0.27832|0.27832	0.0685|0.0685	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	.|P	.|0.43885	.|0.82	.|B	.|0.40009	.|0.316	T|T	0.25676|0.25676	-1.0125|-1.0125	5|9	.|0.72032	.|D	.|0.01	-0.0045|-0.0045	2.3249|2.3249	0.04220|0.04220	0.3772:0.3652:0.1587:0.0989|0.3772:0.3652:0.1587:0.0989	.|.	.|80	.|Q96L11	.|CG034_HUMAN	E|K	110|105	.|.	.|ENSP00000386450:T105K	D|T	+|+	3|2	2|0	C7orf34|C7orf34	142347666|142347666	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.355000|-0.355000	0.07671|0.07671	0.159000|0.159000	0.19401|0.19401	0.556000|0.556000	0.70494|0.70494	GAC|ACG		0.532	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		43	80	1	0	5.44703e-19	0.009718	8.50957e-19	43	80				
SSPO	23145	broad.mit.edu	37	7	149484826	149484826	+	RNA	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:149484826C>G	ENST00000378016.2	+	0	3648							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCACATTATGCCACGCGGAGG	0.667																																							uc010lpk.2		NA																	0					0						c.(3646-3648)TGC>TGG		SCO-spondin precursor							8.0	12.0	11.0					7																	149484826		2033	4158	6191			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149484826C>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149484826C>G							p.C1216W	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		25	3648	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1216			VWFD 3.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.3648C>G																																																																																					0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	3	0	0	0	0.004672	0	2	3				
ZNF862	643641	broad.mit.edu	37	7	149561358	149561358	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:149561358C>T	ENST00000223210.4	+	8	3740	c.3495C>T	c.(3493-3495)gcC>gcT	p.A1165A	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A1165A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCAGGAGGCCCCCGGGATGT	0.622																																							uc010lpn.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(3493-3495)GCC>GCT		zinc finger protein 862							18.0	21.0	20.0					7																	149561358		1908	4118	6026	SO:0001819	synonymous_variant	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149561358C>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.3495C>T	7.37:g.149561358C>T						ZNF862_uc003wgm.2_RNA	p.A1165A	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			8	3687	+			1165					A0AUL8	Silent	SNP	ENST00000223210.4	37	c.3495C>T	CCDS47741.1																																																																																				0.622	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		5	10	0	0	0	0.001984	0	5	10				
ZNF775	285971	broad.mit.edu	37	7	150094431	150094431	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:150094431A>C	ENST00000329630.5	+	3	969	c.862A>C	c.(862-864)Aag>Cag	p.K288Q		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K288Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGTGTGGCAAGAGCTTCAC	0.721																																							uc003whf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(862-864)AAG>CAG		zinc finger protein 775							17.0	20.0	19.0					7																	150094431		2155	4258	6413	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094431A>C	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.862A>C	7.37:g.150094431A>C	ENSP00000330838:p.Lys288Gln						p.K288Q	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	987	+	Ovarian(565;0.183)|Melanoma(164;0.226)		288			C2H2-type 5.		Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.862A>C	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	A	19.44	3.828673	0.71258	.	.	ENSG00000196456	ENST00000329630	T	0.35973	1.28	4.15	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41351	0.1155	N	0.19112	0.55	0.31377	N	0.679427	D	0.76494	0.999	D	0.71656	0.974	T	0.37753	-0.9692	8	.	.	.	.	11.1724	0.48579	1.0:0.0:0.0:0.0	.	288	Q96BV0	ZN775_HUMAN	Q	288	ENSP00000330838:K288Q	.	K	+	1	0	ZNF775	149725364	0.993000	0.37304	1.000000	0.80357	0.922000	0.55478	2.725000	0.47294	1.736000	0.51660	0.260000	0.18958	AAG		0.721	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		3	26	0	0	0	0.004672	0	3	26				
TMEM176B	28959	broad.mit.edu	37	7	150488658	150488658	+	Silent	SNP	C	C	A	rs146845592	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:150488658C>A	ENST00000447204.2	-	7	1146	c.774G>T	c.(772-774)tcG>tcT	p.S258S	TMEM176B_ENST00000450753.2_Silent_p.S221S|TMEM176B_ENST00000492607.1_Silent_p.S258S|TMEM176B_ENST00000429904.2_Silent_p.S258S|TMEM176B_ENST00000434545.1_Silent_p.S258S|TMEM176B_ENST00000326442.5_Silent_p.S258S	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	258					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S258S(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTAGAGGGCGAAGGGGGCA	0.567																																							uc003wht.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(772-774)TCG>TCT		transmembrane protein 176B isoform a							51.0	57.0	55.0					7																	150488658		2203	4300	6503	SO:0001819	synonymous_variant	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150488658C>A	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.774G>T	7.37:g.150488658C>A						TMEM176B_uc003whu.3_Silent_p.S258S|TMEM176B_uc003whv.3_Silent_p.S221S|TMEM176B_uc003whw.3_Silent_p.S258S	p.S258S	NM_001101313	NP_001094783	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	940	-			258					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Silent	SNP	ENST00000447204.2	37	c.774G>T	CCDS5908.1																																																																																				0.567	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		21	30	1	0	7.41877e-09	0.012319	9.29507e-09	21	30				
AOC1	26	broad.mit.edu	37	7	150553761	150553761	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:150553761C>G	ENST00000493429.1	+	4	787	c.203C>G	c.(202-204)aCc>aGc	p.T68S	AOC1_ENST00000360937.4_Missense_Mutation_p.T68S|AOC1_ENST00000416793.2_Missense_Mutation_p.T68S|AOC1_ENST00000467291.1_Missense_Mutation_p.T68S			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	68					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.T68S(1)								Amiloride(DB00594)	GCCAAGAACACCGTGTTTCTC	0.557																																						Pancreas(195;1227 3054 24912 28503)	uc003why.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)	6						c.(202-204)ACC>AGC		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						150.0	151.0	151.0					7																	150553761		2103	4236	6339	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150553761C>G	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.203C>G	7.37:g.150553761C>G	ENSP00000418614:p.Thr68Ser					ABP1_uc003whz.1_Missense_Mutation_p.T68S|ABP1_uc003wia.1_Missense_Mutation_p.T68S	p.T68S	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	4421	+	all_neural(206;0.219)		68					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.203C>G	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.941516	0.00479	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000483043	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.56	3.72	0.42706	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.289069	0.36703	N	0.002448	T	0.07728	0.0194	N	0.00446	-1.495	0.26683	N	0.97151	B;B	0.10296	0.003;0.001	B;B	0.12837	0.008;0.004	T	0.32981	-0.9886	10	0.07644	T	0.81	-16.2672	10.6443	0.45610	0.1497:0.7063:0.144:0.0	.	68;68	C9J690;P19801	.;ABP1_HUMAN	S	68	ENSP00000418614:T68S;ENSP00000418328:T68S;ENSP00000418557:T68S;ENSP00000354193:T68S;ENSP00000411613:T68S;ENSP00000417392:T68S	ENSP00000354193:T68S	T	+	2	0	ABP1	150184694	0.206000	0.23470	0.641000	0.29422	0.048000	0.14542	0.832000	0.27490	0.691000	0.31592	-0.175000	0.13238	ACC		0.557	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		50	67	0	0	0	0.00361	0	50	67				
PTPRN2	5799	broad.mit.edu	37	7	158109546	158109546	+	Missense_Mutation	SNP	C	C	A	rs145815332		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:158109546C>A	ENST00000389418.4	-	3	251	c.242G>T	c.(241-243)cGc>cTc	p.R81L	PTPRN2_ENST00000404321.2_Missense_Mutation_p.R104L|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R81L|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R64L|PTPRN2_ENST00000409483.1_Intron	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	81					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R81L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CACGCGCAGGCGCTGCAGGGC	0.642																																							uc003wno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(241-243)CGC>CTC		protein tyrosine phosphatase, receptor type, N							54.0	49.0	50.0					7																	158109546		2202	4300	6502	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:158109546C>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.242G>T	7.37:g.158109546C>A	ENSP00000374069:p.Arg81Leu					PTPRN2_uc003wnp.2_Missense_Mutation_p.R64L|PTPRN2_uc003wnq.2_Missense_Mutation_p.R81L|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Missense_Mutation_p.R104L	p.R81L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	3	363	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	81			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.242G>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345488	0.24426	.	.	ENSG00000155093	ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T	0.03152	4.06;4.03;4.07;4.1	4.88	1.21	0.21127	.	.	.	.	.	T	0.04407	0.0121	L	0.41492	1.28	0.27325	N	0.956928	B;B;B;B	0.32396	0.369;0.369;0.253;0.253	B;B;B;B	0.34385	0.181;0.181;0.088;0.088	T	0.33085	-0.9882	9	0.72032	D	0.01	.	9.0756	0.36519	0.0:0.4239:0.0:0.5761	.	104;81;64;81	Q92932-3;Q92932-2;E9PC57;Q92932	.;.;.;PTPR2_HUMAN	L	81;64;81;104	ENSP00000374064:R81L;ENSP00000374067:R64L;ENSP00000374069:R81L;ENSP00000385464:R104L	ENSP00000374064:R81L	R	-	2	0	PTPRN2	157802307	0.948000	0.32251	0.867000	0.34043	0.042000	0.13812	-0.013000	0.12678	-0.023000	0.13963	-0.312000	0.09012	CGC		0.642	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			15	18	1	0	1.5739e-10	0.004007	2.09389e-10	15	18				
SGCZ	137868	broad.mit.edu	37	8	13965682	13965682	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:13965682G>T	ENST00000382080.1	-	6	1325	c.610C>A	c.(610-612)Caa>Aaa	p.Q204K	SGCZ_ENST00000421524.2_Missense_Mutation_p.Q157K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	191					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.Q204K(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTGAGATCTTGGGATGGCTCT	0.438																																							uc003wwq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(610-612)CAA>AAA		sarcoglycan zeta							102.0	90.0	94.0					8																	13965682		2203	4300	6503	SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13965682G>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.610C>A	8.37:g.13965682G>T	ENSP00000371512:p.Gln204Lys					SGCZ_uc010lss.2_Missense_Mutation_p.Q157K	p.Q204K	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	6	1270	-			191			Extracellular (Potential).		Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	c.610C>A	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	G	5.485	0.274514	0.10403	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.94000	-3.33;-3.33	5.39	5.39	0.77823	.	0.050554	0.85682	D	0.000000	D	0.88851	0.6549	N	0.25957	0.775	0.44261	D	0.997118	P;P	0.44429	0.835;0.612	P;B	0.45071	0.468;0.164	D	0.86356	0.1714	10	0.05351	T	0.99	.	17.0202	0.86431	0.0:0.0:1.0:0.0	.	157;204	Q08AT0;Q96LD1-2	.;.	K	204;157	ENSP00000371512:Q204K;ENSP00000405224:Q157K	ENSP00000371512:Q204K	Q	-	1	0	SGCZ	14010053	1.000000	0.71417	0.998000	0.56505	0.662000	0.39071	5.568000	0.67385	2.699000	0.92147	0.655000	0.94253	CAA		0.438	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		20	25	1	0	1.28384e-07	0.012319	1.55673e-07	20	25				
CLU	1191	broad.mit.edu	37	8	27466505	27466505	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:27466505C>T	ENST00000316403.10	-	3	601	c.196G>A	c.(196-198)Gag>Aag	p.E66K	CLU_ENST00000560366.1_Missense_Mutation_p.E118K|CLU_ENST00000546343.1_Missense_Mutation_p.E77K|CLU_ENST00000523500.1_Missense_Mutation_p.E66K|CLU_ENST00000405140.3_Missense_Mutation_p.E66K			P10909	CLUS_HUMAN	clusterin	66					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)	p.E118K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GTCTTGCGCTCTTCGTTTGTT	0.473																																							uc003xfw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(196-198)GAG>AAG		clusterin isoform 2							193.0	179.0	184.0					8																	27466505		2203	4300	6503	SO:0001583	missense	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27466505C>T	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.196G>A	8.37:g.27466505C>T	ENSP00000315130:p.Glu66Lys					CLU_uc010lux.1_Intron|CLU_uc003xfx.1_Missense_Mutation_p.E66K|CLU_uc003xfy.1_Missense_Mutation_p.E77K|CLU_uc003xfz.1_Missense_Mutation_p.E118K	p.E66K	NM_203339	NP_976084	P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	2	254	-		Ovarian(32;2.61e-05)	66					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	c.196G>A	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613061	0.66672	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000523589;ENST00000520796;ENST00000519742;ENST00000520491;ENST00000522413;ENST00000519472;ENST00000523396	T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;2.07;2.07;2.07;2.07;2.07;1.55;1.55	5.58	5.58	0.84498	Clusterin, N-terminal (1);	0.173961	0.50627	D	0.000116	T	0.53867	0.1823	M	0.69823	2.125	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.964;0.964;0.971	T	0.45308	-0.9270	10	0.28530	T	0.3	-51.1527	17.0681	0.86564	0.0:1.0:0.0:0.0	.	118;77;66	P10909-2;P10909-5;P10909	.;.;CLUS_HUMAN	K	118;77;66;66;66;66;66;66;66;66;66	ENSP00000446413:E77K;ENSP00000385419:E66K;ENSP00000429620:E66K;ENSP00000431070:E66K;ENSP00000429336:E66K;ENSP00000431026:E66K;ENSP00000429881:E66K;ENSP00000428779:E66K;ENSP00000427868:E66K;ENSP00000428526:E66K	ENSP00000315130:E118K	E	-	1	0	CLU	27522422	1.000000	0.71417	0.964000	0.40570	0.106000	0.19336	4.925000	0.63425	2.611000	0.88343	0.655000	0.94253	GAG		0.473	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		6	151	0	0	0	0.001168	0	6	151				
TEX15	56154	broad.mit.edu	37	8	30695124	30695124	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:30695124C>T	ENST00000256246.2	-	3	7601	c.7527G>A	c.(7525-7527)tcG>tcA	p.S2509S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2509					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S2509S(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGAGAGCACCGACGCATCAG	0.368																																							uc003xil.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(7525-7527)TCG>TCA		testis expressed 15							69.0	71.0	70.0					8																	30695124		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30695124C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7527G>A	8.37:g.30695124C>T							p.S2509S	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7527	-			2509						Silent	SNP	ENST00000256246.2	37	c.7527G>A	CCDS6080.1																																																																																				0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			26	84	0	0	0	0.004656	0	26	84				
UNC5D	137970	broad.mit.edu	37	8	35608282	35608282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:35608282C>A	ENST00000404895.2	+	13	2446	c.2118C>A	c.(2116-2118)taC>taA	p.Y706*	UNC5D_ENST00000453357.2_Nonsense_Mutation_p.Y701*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.Y711*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.Y639*|UNC5D_ENST00000449677.1_Nonsense_Mutation_p.Y282*|UNC5D_ENST00000287272.2_Nonsense_Mutation_p.Y637*	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	706	Interaction with DCC. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.Y701*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCTGGATTACAACTTGAGAG	0.448																																							uc003xjr.1		NA																	1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2116-2118)TAC>TAA		unc-5 homolog D precursor							210.0	181.0	191.0					8																	35608282		2203	4300	6503	SO:0001587	stop_gained	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608282C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2118C>A	8.37:g.35608282C>A	ENSP00000385143:p.Tyr706*					UNC5D_uc003xjs.1_Nonsense_Mutation_p.Y701*|UNC5D_uc003xju.1_Nonsense_Mutation_p.Y282*	p.Y706*	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	13	2446	+			706			Cytoplasmic (Potential).|Interaction with DCC (By similarity).		Q8WYP7	Nonsense_Mutation	SNP	ENST00000404895.2	37	c.2118C>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	37	6.499461	0.97616	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	.	.	.	5.9	5.03	0.67393	.	0.052587	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.6756	15.103	0.72296	0.0:0.9323:0.0:0.0677	.	.	.	.	X	706;639;637;711;701;282	.	ENSP00000287272:Y637X	Y	+	3	2	UNC5D	35727824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.780000	0.55386	1.521000	0.48983	0.655000	0.94253	TAC		0.448	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			88	109	1	0	2.4313e-29	0.00361	4.2775e-29	88	109				
RNF5P1	286140	broad.mit.edu	37	8	38458370	38458370	+	IGR	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:38458370C>T								RP11-675F6.4 (41832 upstream) : RP11-495O10.1 (99773 downstream)																							TGGAAGCCCCCGGTATCACCA	0.572																																							uc003xly.2		NA																	0					0						c.(349-351)GGG>AGG		SubName: Full=Putative uncharacterized protein RNF5;																																				SO:0001628	intergenic_variant	286140							g.chr8:38458370C>T																													8.37:g.38458370C>T							p.G117R	NR_003129						1	406	-									Missense_Mutation	SNP		37	c.349G>A																																																																																				0	0.572									82	90	0	0	0	0.00361	0	82	90				
SNTG1	54212	broad.mit.edu	37	8	51664619	51664619	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:51664619G>C	ENST00000522124.1	+	18	2004	c.1343G>C	c.(1342-1344)aGc>aCc	p.S448T	SNTG1_ENST00000276467.5_Intron|SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000518864.1_Missense_Mutation_p.S448T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	448					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)	p.S448T(2)		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)				GATGGCAAGAGCAAAATCAAA	0.358																																							uc010lxy.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(1342-1344)AGC>ACC		syntrophin, gamma 1							122.0	125.0	124.0					8																	51664619		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51664619G>C	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.1343G>C	8.37:g.51664619G>C	ENSP00000429842:p.Ser448Thr					SNTG1_uc003xqs.1_Missense_Mutation_p.S448T|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_RNA	p.S448T	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			19	1714	+		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)	448					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1343G>C	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	6.823	0.520922	0.13005	.	.	ENSG00000147481	ENST00000518864;ENST00000522124	T;T	0.76316	-1.01;-1.01	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	N	0.24115	0.695	0.80722	D	1	B	0.22080	0.064	B	0.22386	0.039	T	0.60989	-0.7153	10	0.11794	T	0.64	.	17.8348	0.88693	0.0:0.0:1.0:0.0	.	448	Q9NSN8	SNTG1_HUMAN	T	448	ENSP00000429276:S448T;ENSP00000429842:S448T	ENSP00000429276:S448T	S	+	2	0	SNTG1	51827172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.874000	0.48483	2.511000	0.84671	0.573000	0.79308	AGC		0.358	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			17	157	0	0	0	0.010504	0	17	157				
ASPH	444	broad.mit.edu	37	8	62550537	62550537	+	Silent	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:62550537A>G	ENST00000379454.4	-	12	1045	c.858T>C	c.(856-858)aaT>aaC	p.N286N	ASPH_ENST00000522835.1_Silent_p.N229N|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000522919.1_Silent_p.N99N|ASPH_ENST00000445642.3_Silent_p.N272N|ASPH_ENST00000517847.2_Silent_p.N272N|ASPH_ENST00000541428.1_Silent_p.N257N|ASPH_ENST00000517903.1_Silent_p.N271N|ASPH_ENST00000518068.1_Silent_p.N243N|ASPH_ENST00000356457.5_Silent_p.N286N	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	286	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.N286N(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTTCTACAGGATTATCCTCAG	0.338																																							uc003xuj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(856-858)AAT>AAC		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						44.0	44.0	44.0					8																	62550537		2203	4300	6503	SO:0001819	synonymous_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62550537A>G	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.858T>C	8.37:g.62550537A>G						ASPH_uc011leg.1_Silent_p.N257N|ASPH_uc003xuo.2_Silent_p.N267N|ASPH_uc011leh.1_Silent_p.N252N|ASPH_uc003xul.2_Silent_p.N272N|ASPH_uc011lei.1_Silent_p.N271N|ASPH_uc011lej.1_Silent_p.N229N|ASPH_uc003xun.2_Silent_p.N243N|ASPH_uc011lek.1_Silent_p.N267N|ASPH_uc003xum.2_Silent_p.N286N	p.N286N	NM_004318	NP_004309	Q12797	ASPH_HUMAN			12	1127	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	286			Glu-rich.|Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	37	c.858T>C	CCDS34898.1																																																																																				0.338	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		8	86	0	0	0	0.004482	0	8	86				
ARFGEF1	10565	broad.mit.edu	37	8	68131718	68131718	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:68131718C>A	ENST00000262215.3	-	30	4675	c.4286G>T	c.(4285-4287)aGa>aTa	p.R1429I	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R267I|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R883I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1429					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.R1429I(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAAAACAATTCTAAATAAATC	0.318																																							uc003xxo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(4285-4287)AGA>ATA		brefeldin A-inhibited guanine							91.0	92.0	91.0					8																	68131718		2202	4298	6500	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68131718C>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4286G>T	8.37:g.68131718C>A	ENSP00000262215:p.Arg1429Ile					ARFGEF1_uc003xxl.1_Missense_Mutation_p.R883I|ARFGEF1_uc003xxn.1_Missense_Mutation_p.R412I	p.R1429I	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		30	4676	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1429					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.4286G>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953202	0.92660	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.65732	0.68;-0.16;-0.17	5.29	5.29	0.74685	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75087	0.3802	M	0.66939	2.045	0.80722	D	1	D;P;D	0.65815	0.995;0.904;0.964	P;P;P	0.56916	0.809;0.514;0.514	T	0.77973	-0.2386	10	0.87932	D	0	.	19.2953	0.94119	0.0:1.0:0.0:0.0	.	1429;907;883	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	I	883;1429;267	ENSP00000428429:R883I;ENSP00000262215:R1429I;ENSP00000430891:R267I	ENSP00000262215:R1429I	R	-	2	0	ARFGEF1	68294272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.628000	0.89032	0.655000	0.94253	AGA		0.318	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		10	89	1	0	7.48243e-07	0.006214	8.88686e-07	10	89				
JPH1	56704	broad.mit.edu	37	8	75227183	75227183	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:75227183T>A	ENST00000342232.4	-	2	1092	c.1052A>T	c.(1051-1053)aAa>aTa	p.K351I		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	351					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.K351I(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTCCCTAGTTTTTGTATGTCT	0.438																																							uc003yae.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1051-1053)AAA>ATA		junctophilin 1							120.0	125.0	123.0					8																	75227183		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227183T>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1052A>T	8.37:g.75227183T>A	ENSP00000344488:p.Lys351Ile					JPH1_uc003yaf.2_Missense_Mutation_p.K351I|JPH1_uc003yag.1_Missense_Mutation_p.K215I	p.K351I	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	1092	-	Breast(64;0.00576)		351			Cytoplasmic (Potential).		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1052A>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447936	0.84101	.	.	ENSG00000104369	ENST00000342232	T	0.64085	-0.08	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.81626	0.4862	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.84937	0.0863	10	0.66056	D	0.02	.	15.4218	0.75018	0.0:0.0:0.0:1.0	.	351	Q9HDC5	JPH1_HUMAN	I	351	ENSP00000344488:K351I	ENSP00000344488:K351I	K	-	2	0	JPH1	75389738	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.781000	0.85668	2.219000	0.72066	0.533000	0.62120	AAA		0.438	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			45	201	0	0	0	0.00361	0	45	201				
JPH1	56704	broad.mit.edu	37	8	75227185	75227185	+	Silent	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:75227185T>G	ENST00000342232.4	-	2	1090	c.1050A>C	c.(1048-1050)acA>acC	p.T350T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	350					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.T350T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCCTAGTTTTTGTATGTCTTA	0.443																																							uc003yae.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1048-1050)ACA>ACC		junctophilin 1							120.0	125.0	124.0					8																	75227185		2203	4300	6503	SO:0001819	synonymous_variant	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227185T>G	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1050A>C	8.37:g.75227185T>G						JPH1_uc003yaf.2_Silent_p.T350T|JPH1_uc003yag.1_Silent_p.T214T	p.T350T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	1090	-	Breast(64;0.00576)		350			Cytoplasmic (Potential).		B2RTZ0	Silent	SNP	ENST00000342232.4	37	c.1050A>C	CCDS6217.1																																																																																				0.443	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			43	200	0	0	0	0.00361	0	43	200				
JPH1	56704	broad.mit.edu	37	8	75227187	75227187	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:75227187T>A	ENST00000342232.4	-	2	1088	c.1048A>T	c.(1048-1050)Aca>Tca	p.T350S		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	350					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.T350S(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTAGTTTTTGTATGTCTTATT	0.443																																							uc003yae.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1048-1050)ACA>TCA		junctophilin 1							121.0	126.0	124.0					8																	75227187		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227187T>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1048A>T	8.37:g.75227187T>A	ENSP00000344488:p.Thr350Ser					JPH1_uc003yaf.2_Missense_Mutation_p.T350S|JPH1_uc003yag.1_Missense_Mutation_p.T214S	p.T350S	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	1088	-	Breast(64;0.00576)		350			Cytoplasmic (Potential).		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1048A>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.308471	0.23821	.	.	ENSG00000104369	ENST00000342232	T	0.55052	0.54	5.31	2.97	0.34412	.	0.146725	0.64402	D	0.000010	T	0.30696	0.0773	N	0.21373	0.66	0.43110	D	0.994815	B	0.18863	0.031	B	0.15870	0.014	T	0.16748	-1.0392	10	0.02654	T	1	.	9.4925	0.38969	0.0:0.1421:0.0:0.8579	.	350	Q9HDC5	JPH1_HUMAN	S	350	ENSP00000344488:T350S	ENSP00000344488:T350S	T	-	1	0	JPH1	75389742	1.000000	0.71417	0.980000	0.43619	0.904000	0.53231	1.989000	0.40707	0.483000	0.27608	0.533000	0.62120	ACA		0.443	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			52	201	0	0	0	0.00361	0	52	201				
CNBD1	168975	broad.mit.edu	37	8	88218342	88218342	+	Missense_Mutation	SNP	G	G	C	rs114439288	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:88218342G>C	ENST00000518476.1	+	5	604	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	185								p.E185Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGTCTTTTCCGAAACCTGGTT	0.373																																							uc003ydy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(553-555)GAA>CAA		cyclic nucleotide binding domain containing 1							78.0	73.0	74.0					8																	88218342		1850	4097	5947	SO:0001583	missense	168975							g.chr8:88218342G>C	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.553G>C	8.37:g.88218342G>C	ENSP00000430073:p.Glu185Gln						p.E185Q	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			5	601	+			185						Missense_Mutation	SNP	ENST00000518476.1	37	c.553G>C	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835528	0.32421	.	.	ENSG00000176571	ENST00000518476	D	0.96745	-4.11	5.29	3.41	0.39046	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.132566	0.33401	N	0.004953	D	0.94532	0.8239	M	0.61703	1.905	0.22610	N	0.998933	P	0.38473	0.633	B	0.39258	0.295	D	0.87657	0.2532	10	0.42905	T	0.14	-16.2645	11.9648	0.53029	0.0:0.3365:0.6635:0.0	.	185	Q8NA66	CNBD1_HUMAN	Q	185	ENSP00000430073:E185Q	ENSP00000430073:E185Q	E	+	1	0	CNBD1	88287458	0.989000	0.36119	0.661000	0.29709	0.068000	0.16541	2.076000	0.41548	0.562000	0.29204	0.460000	0.39030	GAA		0.373	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		47	30	0	0	0	0.00361	0	47	30				
DPYS	1807	broad.mit.edu	37	8	105393434	105393434	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:105393434G>T	ENST00000351513.2	-	9	1684	c.1552C>A	c.(1552-1554)Cac>Aac	p.H518N	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	518					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.H518N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTCAGGGGTGGGCCTGTTTC	0.507																																							uc003yly.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1552-1554)CAC>AAC		dihydropyrimidinase							242.0	196.0	211.0					8																	105393434		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105393434G>T	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1552C>A	8.37:g.105393434G>T	ENSP00000276651:p.His518Asn					DPYS_uc010mcf.1_Missense_Mutation_p.H88N	p.H518N	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		9	1681	-			518						Missense_Mutation	SNP	ENST00000351513.2	37	c.1552C>A	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	9.497	1.102289	0.20632	.	.	ENSG00000147647	ENST00000351513	D	0.84800	-1.9	5.85	2.0	0.26442	.	1.300370	0.04786	N	0.430699	T	0.68824	0.3043	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.54309	-0.8313	10	0.24483	T	0.36	-1.2452	2.7008	0.05148	0.1596:0.1455:0.5445:0.1505	.	518	Q14117	DPYS_HUMAN	N	518	ENSP00000276651:H518N	ENSP00000276651:H518N	H	-	1	0	DPYS	105462610	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.371000	0.07513	0.082000	0.17018	0.561000	0.74099	CAC		0.507	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		85	108	1	0	9.37156e-40	0.00361	1.74673e-39	85	108				
ZFPM2	23414	broad.mit.edu	37	8	106801085	106801085	+	Silent	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:106801085G>C	ENST00000407775.2	+	6	922	c.672G>C	c.(670-672)ctG>ctC	p.L224L	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_5'UTR|ZFPM2_ENST00000520492.1_Silent_p.L92L|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.L92L|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	224					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L224L(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACGCCTGCTGGACTCAATTC	0.498																																							uc003ymd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(670-672)CTG>CTC		zinc finger protein, multitype 2							93.0	91.0	91.0					8																	106801085		1998	4191	6189	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106801085G>C	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.672G>C	8.37:g.106801085G>C						ZFPM2_uc011lhs.1_5'UTR	p.L224L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		6	695	+			224					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.672G>C	CCDS47908.1																																																																																				0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			46	72	0	0	0	0.00361	0	46	72				
ZFPM2	23414	broad.mit.edu	37	8	106814109	106814109	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:106814109G>T	ENST00000407775.2	+	8	2049	c.1799G>T	c.(1798-1800)gGc>gTc	p.G600V	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G331V|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G468V|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G468V|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	600					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G600V(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAACACTGGCCAAACCTCC	0.463																																							uc003ymd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(1798-1800)GGC>GTC		zinc finger protein, multitype 2							116.0	116.0	116.0					8																	106814109		1953	4160	6113	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814109G>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1799G>T	8.37:g.106814109G>T	ENSP00000384179:p.Gly600Val					ZFPM2_uc011lhs.1_Missense_Mutation_p.G331V	p.G600V	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1822	+			600					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1799G>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199646	0.58126	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.28255	1.62;2.18;2.18;3.47	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	P	0.57720	0.826	T	0.09662	-1.0664	10	0.52906	T	0.07	.	15.3984	0.74816	0.0:0.1386:0.8614:0.0	.	600	Q8WW38	FOG2_HUMAN	V	600;468;468;331	ENSP00000384179:G600V;ENSP00000430757:G468V;ENSP00000428720:G468V;ENSP00000367733:G331V	ENSP00000367733:G331V	G	+	2	0	ZFPM2	106883285	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.681000	0.74523	2.715000	0.92844	0.655000	0.94253	GGC		0.463	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			190	170	1	0	7.07375e-107	0.00361	1.39804e-106	190	170				
CSMD3	114788	broad.mit.edu	37	8	113293448	113293448	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:113293448A>C	ENST00000297405.5	-	59	9707	c.9463T>G	c.(9463-9465)Tgc>Ggc	p.C3155G	CSMD3_ENST00000455883.2_Missense_Mutation_p.C2986G|CSMD3_ENST00000343508.3_Missense_Mutation_p.C3115G|CSMD3_ENST00000352409.3_Missense_Mutation_p.C3085G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3155	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C3155G(1)|p.C3115G(1)		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						TTGGCTGTGCACTGTCTAACT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	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.(9463-9465)TGC>GGC		CUB and Sushi multiple domains 3 isoform 1							120.0	112.0	115.0					8																	113293448		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113293448A>C	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.9463T>G	8.37:g.113293448A>C	ENSP00000297405:p.Cys3155Gly	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.C2357G|CSMD3_uc003ynt.2_Missense_Mutation_p.C3115G|CSMD3_uc011lhx.1_Missense_Mutation_p.C2986G	p.C3155G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			59	9622	-			3155			Extracellular (Potential).|Sushi 23.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9463T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331765	0.81801	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	5.47	5.47	0.80525	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.98105	0.9375	H	0.99619	4.66	0.58432	D	0.999999	D;D;P	0.89917	0.999;1.0;0.921	D;D;P	0.91635	0.998;0.999;0.777	D	0.99744	1.1016	10	0.87932	D	0	.	15.6084	0.76692	1.0:0.0:0.0:0.0	.	2986;3155;3115	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	G	3115;3155;2425;2986;3085	ENSP00000345799:C3115G;ENSP00000297405:C3155G;ENSP00000341558:C2425G;ENSP00000412263:C2986G;ENSP00000343124:C3085G	ENSP00000297405:C3155G	C	-	1	0	CSMD3	113362624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.423000	0.80229	2.086000	0.62901	0.524000	0.50904	TGC		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	138	0	0	0	0.001168	0	5	138				
CSMD3	114788	broad.mit.edu	37	8	113293554	113293554	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:113293554G>A	ENST00000297405.5	-	59	9601	c.9357C>T	c.(9355-9357)acC>acT	p.T3119T	CSMD3_ENST00000455883.2_Silent_p.T2950T|CSMD3_ENST00000343508.3_Silent_p.T3079T|CSMD3_ENST00000352409.3_Silent_p.T3049T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3119	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T3119T(1)|p.T3079T(1)		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						CATTGGCTGTGGTTCCTGGGT	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - coding silent(2)		lung(2)	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.(9355-9357)ACC>ACT		CUB and Sushi multiple domains 3 isoform 1							95.0	80.0	85.0					8																	113293554		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113293554G>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.9357C>T	8.37:g.113293554G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.T2321T|CSMD3_uc003ynt.2_Silent_p.T3079T|CSMD3_uc011lhx.1_Silent_p.T2950T	p.T3119T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			59	9516	-			3119			Extracellular (Potential).|Sushi 23.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9357C>T	CCDS6315.1																																																																																				0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		15	90	0	0	0	0.004007	0	15	90				
CSMD3	114788	broad.mit.edu	37	8	113694845	113694845	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:113694845G>T	ENST00000297405.5	-	16	2747	c.2503C>A	c.(2503-2505)Cct>Act	p.P835T	CSMD3_ENST00000455883.2_Missense_Mutation_p.P731T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P795T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P835T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	835	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P835T(1)|p.P795T(1)		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						CCAGGATCAGGGCATTCATTA	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	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.(2503-2505)CCT>ACT		CUB and Sushi multiple domains 3 isoform 1							84.0	84.0	84.0					8																	113694845		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113694845G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2503C>A	8.37:g.113694845G>T	ENSP00000297405:p.Pro835Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P107T|CSMD3_uc003ynt.2_Missense_Mutation_p.P795T|CSMD3_uc011lhx.1_Missense_Mutation_p.P731T	p.P835T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			16	2662	-			835			Sushi 4.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2503C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168661	0.78339	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.58	5.58	0.84498	Complement control module (2);Sushi/SCR/CCP (3);	0.076269	0.53938	D	0.000055	T	0.79678	0.4487	M	0.68593	2.085	0.37627	D	0.921546	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.999;1.0;0.974	T	0.75241	-0.3387	10	0.12103	T	0.63	.	19.557	0.95354	0.0:0.0:1.0:0.0	.	731;835;795	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	795;835;175;731;835	ENSP00000345799:P795T;ENSP00000297405:P835T;ENSP00000341558:P175T;ENSP00000412263:P731T;ENSP00000343124:P835T	ENSP00000297405:P835T	P	-	1	0	CSMD3	113764021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.623000	0.88846	0.650000	0.86243	CCT		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		91	65	1	0	3.17287e-45	0.00361	5.9879e-45	91	65				
ENPP2	5168	broad.mit.edu	37	8	120602768	120602768	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:120602768G>T	ENST00000075322.6	-	13	1242	c.1184C>A	c.(1183-1185)tCc>tAc	p.S395Y	ENPP2_ENST00000522826.1_Missense_Mutation_p.S395Y|ENPP2_ENST00000427067.2_Missense_Mutation_p.S391Y|ENPP2_ENST00000522167.1_Missense_Mutation_p.S34Y|ENPP2_ENST00000259486.6_Missense_Mutation_p.S447Y	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	395					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S447Y(1)|p.S395Y(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCTAAATTTGGATCGAATTCT	0.338																																					Melanoma(20;305 879 2501 4818 31020)	Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(1183-1185)TCC>TAC		autotaxin isoform 2 preproprotein							87.0	85.0	86.0					8																	120602768		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120602768G>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1184C>A	8.37:g.120602768G>T	ENSP00000075322:p.Ser395Tyr					ENPP2_uc003yor.1_Missense_Mutation_p.S34Y|ENPP2_uc003yos.1_Missense_Mutation_p.S447Y|ENPP2_uc010mdd.1_Missense_Mutation_p.S395Y	p.S395Y	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		13	1270	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		395					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1184C>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266029	0.80358	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.66	5.66	0.87406	Alkaline-phosphatase-like, core domain (1);	0.781800	0.12824	N	0.436179	T	0.76118	0.3943	L	0.31578	0.945	0.43360	D	0.995432	B;P;P;D	0.54397	0.263;0.723;0.662;0.966	P;P;B;P	0.57204	0.639;0.639;0.439;0.815	T	0.77135	-0.2699	10	0.87932	D	0	.	19.7534	0.96277	0.0:0.0:1.0:0.0	.	395;395;447;34	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	Y	447;391;34;395;395	ENSP00000259486:S447Y;ENSP00000403315:S391Y;ENSP00000429476:S34Y;ENSP00000428291:S395Y;ENSP00000075322:S395Y	ENSP00000075322:S395Y	S	-	2	0	ENPP2	120671949	1.000000	0.71417	0.937000	0.37676	0.577000	0.36160	9.357000	0.97099	2.673000	0.90976	0.650000	0.86243	TCC		0.338	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			77	40	1	0	3.27973e-32	0.00361	5.88008e-32	77	40				
BAI1	575	broad.mit.edu	37	8	143614706	143614706	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:143614706G>T	ENST00000517894.1	+	25	4343	c.3449G>T	c.(3448-3450)tGg>tTg	p.W1150L	BAI1_ENST00000323289.5_Missense_Mutation_p.W1150L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1150					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W1150L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCGCTGACCTGGATGTCGGCT	0.697																																							uc003ywm.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(3448-3450)TGG>TTG		brain-specific angiogenesis inhibitor 1							17.0	23.0	21.0					8																	143614706		2199	4293	6492	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143614706G>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3449G>T	8.37:g.143614706G>T	ENSP00000430945:p.Trp1150Leu						p.W1150L	NM_001702	NP_001693	O14514	BAI1_HUMAN			24	3632	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1150			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000517894.1	37	c.3449G>T		.	.	.	.	.	.	.	.	.	.	G	24.0	4.482027	0.84747	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.49139	0.79;0.79	4.43	3.55	0.40652	.	0.000000	0.64402	U	0.000001	T	0.70002	0.3174	M	0.91920	3.255	0.58432	D	0.999998	P	0.52463	0.953	P	0.58391	0.838	T	0.77515	-0.2559	10	0.87932	D	0	.	13.1065	0.59249	0.0:0.0:0.8384:0.1616	.	1150	E9PBK0	.	L	1150	ENSP00000430945:W1150L;ENSP00000313046:W1150L	ENSP00000313046:W1150L	W	+	2	0	BAI1	143611708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.484000	0.97940	0.958000	0.37956	0.563000	0.77884	TGG		0.697	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		8	20	1	0	0.000274275	0.004482	0.000302385	8	20				
KIAA2026	158358	broad.mit.edu	37	9	5968614	5968614	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:5968614C>T	ENST00000399933.3	-	3	1616	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q	KIAA2026_ENST00000381461.2_Silent_p.Q539Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	539								p.Q539Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AATTATTTTCCTGCTCTTTCT	0.363																																							uc003zjq.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1615-1617)CAG>CAA		hypothetical protein LOC158358							118.0	113.0	114.0					9																	5968614		1867	4105	5972	SO:0001819	synonymous_variant	158358							g.chr9:5968614C>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.1617G>A	9.37:g.5968614C>T							p.Q539Q	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	1833	-		Acute lymphoblastic leukemia(23;0.158)	539					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.1617G>A																																																																																					0.363	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		75	68	0	0	0	0.00361	0	75	68				
CCDC171	203238	broad.mit.edu	37	9	15971692	15971692	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:15971692C>A	ENST00000380701.3	+	26	4167	c.3839C>A	c.(3838-3840)cCa>cAa	p.P1280Q	CCDC171_ENST00000486641.2_Intron	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1280								p.P1280Q(1)									GATTTCTTACCATTGAAAGCT	0.413																																							uc003zmd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3838-3840)CCA>CAA		hypothetical protein LOC203238							196.0	184.0	188.0					9																	15971692		2203	4300	6503	SO:0001583	missense	203238							g.chr9:15971692C>A	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3839C>A	9.37:g.15971692C>A	ENSP00000370077:p.Pro1280Gln					C9orf93_uc003zme.2_Missense_Mutation_p.P1195Q|C9orf93_uc011lmu.1_Missense_Mutation_p.P1288Q	p.P1280Q	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	26	4154	+			1280					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.3839C>A	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338936	0.41398	.	.	ENSG00000164989	ENST00000380701	T	0.35605	1.3	4.95	4.04	0.47022	.	0.102659	0.40469	N	0.001087	T	0.33235	0.0856	N	0.24115	0.695	0.80722	D	1	D;P	0.53462	0.96;0.904	P;P	0.48795	0.59;0.494	T	0.21861	-1.0233	10	0.87932	D	0	-8.6216	13.6505	0.62308	0.0:0.8451:0.1549:0.0	.	1288;1280	B7ZM22;Q6TFL3	.;CI093_HUMAN	Q	1280	ENSP00000370077:P1280Q	ENSP00000370077:P1280Q	P	+	2	0	C9orf93	15961692	0.998000	0.40836	0.998000	0.56505	0.977000	0.68977	4.815000	0.62634	1.273000	0.44346	0.655000	0.94253	CCA		0.413	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		14	225	1	0	7.93312e-07	0.00245	9.39252e-07	14	225				
LINGO2	158038	broad.mit.edu	37	9	27949528	27949528	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:27949528A>C	ENST00000379992.2	-	6	1591	c.1142T>G	c.(1141-1143)aTg>aGg	p.M381R	LINGO2_ENST00000308675.3_Missense_Mutation_p.M381R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	381	LRRCT.					integral component of membrane (GO:0016021)		p.M381R(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCCAGCACACATAGGTTGCTG	0.512																																							uc003zqu.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1141-1143)ATG>AGG		leucine rich repeat and Ig domain containing 2							46.0	46.0	46.0					9																	27949528		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949528A>C	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1142T>G	9.37:g.27949528A>C	ENSP00000369328:p.Met381Arg					LINGO2_uc010mjf.1_Missense_Mutation_p.M381R|LINGO2_uc003zqv.1_Missense_Mutation_p.M381R	p.M381R	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1336	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	381			LRRCT.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1142T>G	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	A	9.327	1.059473	0.19987	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.55588	0.51;0.51	6.16	6.16	0.99307	Cysteine-rich flanking region, C-terminal (1);	0.084363	0.85682	D	0.000000	T	0.40145	0.1105	N	0.17631	0.505	0.53688	D	0.999978	B	0.14012	0.009	B	0.20184	0.028	T	0.22941	-1.0202	9	.	.	.	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	381	Q7L985	LIGO2_HUMAN	R	381	ENSP00000369328:M381R;ENSP00000310126:M381R	.	M	-	2	0	LINGO2	27939528	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.075000	0.64407	2.367000	0.80283	0.528000	0.53228	ATG		0.512	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		35	26	0	0	0	0.003271	0	35	26				
CD72	971	broad.mit.edu	37	9	35618283	35618283	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:35618283G>T	ENST00000396757.1	-	2	182	c.18C>A	c.(16-18)acC>acA	p.T6T	CD72_ENST00000378431.1_Silent_p.T6T|CD72_ENST00000490239.1_5'UTR|CD72_ENST00000378430.3_Silent_p.T6T|CD72_ENST00000259633.4_Silent_p.T6T			P21854	CD72_HUMAN	CD72 molecule	6					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)	p.T6T(1)		large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATCTGCATAGGTGATGGCCT	0.582																																							uc003zxb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(16-18)ACC>ACA		CD72 molecule							117.0	95.0	103.0					9																	35618283		2203	4300	6503	SO:0001819	synonymous_variant	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35618283G>T		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.18C>A	9.37:g.35618283G>T						CD72_uc003zxc.1_5'UTR|CD72_uc010mkt.1_5'UTR|CD72_uc010mku.2_Silent_p.T6T|CD72_uc010mkv.2_Silent_p.T6T|CD72_uc010mkw.1_Intron	p.T6T	NM_001782	NP_001773	P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		1	142	-			6			Cytoplasmic (Potential).			Silent	SNP	ENST00000396757.1	37	c.18C>A	CCDS6581.1																																																																																				0.582	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		21	15	1	0	3.8784e-16	0.012319	5.79452e-16	21	15				
ALDH1B1	219	broad.mit.edu	37	9	38396132	38396132	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:38396132G>T	ENST00000377698.3	+	2	540	c.387G>T	c.(385-387)aaG>aaT	p.K129N		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	129					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.K129N(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		ACAATGGGAAGCCTTTCCAAG	0.577																																							uc004aay.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(385-387)AAG>AAT		aldehyde dehydrogenase 1B1 precursor	NADH(DB00157)						138.0	142.0	141.0					9																	38396132		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396132G>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.387G>T	9.37:g.38396132G>T	ENSP00000366927:p.Lys129Asn						p.K129N	NM_000692	NP_000683	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	499	+			129					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.387G>T	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975876	0.53720	.	.	ENSG00000137124	ENST00000377698	T	0.81330	-1.48	5.52	2.67	0.31697	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000005	D	0.90003	0.6879	M	0.92738	3.34	0.49915	D	0.999832	D	0.76494	0.999	D	0.80764	0.994	D	0.89133	0.3511	10	0.87932	D	0	.	7.9676	0.30109	0.272:0.0:0.728:0.0	.	129	P30837	AL1B1_HUMAN	N	129	ENSP00000366927:K129N	ENSP00000366927:K129N	K	+	3	2	ALDH1B1	38386132	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.195000	0.32186	0.692000	0.31613	-0.136000	0.14681	AAG		0.577	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			40	138	1	0	2.24893e-16	0.009718	3.3734e-16	40	138				
SPATA31A6	389730	broad.mit.edu	37	9	43626635	43626635	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:43626635G>C	ENST00000332857.6	-	4	2080	c.2052C>G	c.(2050-2052)agC>agG	p.S684R	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	684					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S684R(1)									TCCGTGGGAAGCTTTTCATGT	0.517																																							uc011lrb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2050-2052)AGC>AGG		hypothetical protein LOC389730							1.0	1.0	1.0					9																	43626635		41	380	421	SO:0001583	missense	389730					integral to membrane		g.chr9:43626635G>C		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.2052C>G	9.37:g.43626635G>C	ENSP00000329825:p.Ser684Arg						p.S684R	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	2081	-			684						Missense_Mutation	SNP	ENST00000332857.6	37	c.2052C>G	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	6.490	0.458562	0.12342	.	.	ENSG00000185775	ENST00000332857	T	0.08984	3.03	2.36	0.885	0.19188	.	1.110690	0.06713	N	0.773571	T	0.08935	0.0221	L	0.45422	1.42	0.09310	N	1	B	0.32753	0.383	B	0.38020	0.263	T	0.43015	-0.9417	10	0.31617	T	0.26	1.0519	3.8069	0.08780	0.437:0.0:0.563:0.0	.	684	Q5VVP1	F75A6_HUMAN	R	684	ENSP00000329825:S684R	ENSP00000329825:S684R	S	-	3	2	FAM75A6	43566631	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.057000	0.11768	0.198000	0.20407	0.383000	0.25322	AGC		0.517	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		3	132	0	0	0	0.009096	0	3	132				
GDA	9615	broad.mit.edu	37	9	74828893	74828893	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:74828893C>G	ENST00000358399.3	+	5	657	c.564C>G	c.(562-564)atC>atG	p.I188M	GDA_ENST00000238018.4_Missense_Mutation_p.I188M|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.I114M|GDA_ENST00000376989.3_Missense_Mutation_p.I163M|GDA_ENST00000376986.1_Missense_Mutation_p.I146M	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	188					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.I188M(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AGGAATCGATCAAGGAAACTG	0.418																																							uc004aiq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(562-564)ATC>ATG		guanine deaminase							118.0	112.0	114.0					9																	74828893		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74828893C>G	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.564C>G	9.37:g.74828893C>G	ENSP00000351170:p.Ile188Met					GDA_uc011lse.1_Missense_Mutation_p.I114M|GDA_uc011lsf.1_Missense_Mutation_p.I114M|GDA_uc004air.2_Missense_Mutation_p.I188M|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.I146M|GDA_uc004ait.1_Missense_Mutation_p.I114M	p.I188M	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	5	747	+		Myeloproliferative disorder(762;0.0122)	188					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.564C>G	CCDS6641.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.11|17.11	3.304940|3.304940	0.60305|0.60305	.|.	.|.	ENSG00000119125|ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399|ENST00000414671	.|.	.|.	.|.	5.64|5.64	-0.146|-0.146	0.13432|0.13432	Amidohydrolase 1 (1);|.	0.757705|.	0.13102|.	N|.	0.413740|.	T|.	0.45013|.	0.1321|.	M|M	0.67397|0.67397	2.05|2.05	0.09310|0.09310	N|N	1|1	B;B;B|.	0.19073|.	0.033;0.024;0.03|.	B;B;B|.	0.36092|.	0.217;0.083;0.125|.	T|.	0.41070|.	-0.9529|.	9|.	0.40728|0.45353	T|T	0.16|0.12	-5.3502|-5.3502	6.9526|6.9526	0.24554|0.24554	0.0:0.4644:0.1196:0.416|0.0:0.4644:0.1196:0.416	.|.	146;188;188|.	Q5SZC6;Q9Y2T3-3;Q9Y2T3|.	.;.;GUAD_HUMAN|.	M|X	114;188;163;146;188|15	.|.	ENSP00000238018:I188M|ENSP00000403897:S15X	I|S	+|+	3|2	3|0	GDA|GDA	74018713|74018713	0.234000|0.234000	0.23783|0.23783	0.026000|0.026000	0.17262|0.17262	0.385000|0.385000	0.30292|0.30292	0.054000|0.054000	0.14205|0.14205	0.052000|0.052000	0.16007|0.16007	0.591000|0.591000	0.81541|0.81541	ATC|TCA		0.418	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			10	34	0	0	0	0.006214	0	10	34				
RASEF	158158	broad.mit.edu	37	9	85619415	85619415	+	Silent	SNP	G	G	A	rs368791188		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:85619415G>A	ENST00000376447.3	-	9	1460	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	400					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.D400D(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TAACATACCTGTCATAGCCTA	0.338																																							uc004amo.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(1198-1200)GAC>GAT		RAS and EF-hand domain containing		G		0,4406		0,0,2203	105.0	97.0	99.0		1200	4.8	1.0	9		99	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RASEF	NM_152573.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		400/741	85619415	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85619415G>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1200C>T	9.37:g.85619415G>A							p.D400D	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			9	1461	-			400					A6NC29|Q96N04	Silent	SNP	ENST00000376447.3	37	c.1200C>T	CCDS6662.1																																																																																				0.338	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		20	32	0	0	0	0.002299	0	20	32				
CDK20	23552	broad.mit.edu	37	9	90588866	90588866	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:90588866C>A	ENST00000325303.8	-	2	465	c.160G>T	c.(160-162)Gct>Tct	p.A54S	CDK20_ENST00000375871.4_Missense_Mutation_p.A54S|CDK20_ENST00000336654.5_Missense_Mutation_p.A67S|CDK20_ENST00000605159.1_Missense_Mutation_p.A54S|CDK20_ENST00000375883.3_Missense_Mutation_p.A54S	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	54	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.A67S(1)|p.A54S(1)		skin(1)	1						TCCTGCAGAGCCTTAATCTCC	0.562																																							uc004apr.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(160-162)GCT>TCT		cell cycle related kinase isoform 3							134.0	136.0	135.0					9																	90588866		2203	4300	6503	SO:0001583	missense	23552				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr9:90588866C>A	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.160G>T	9.37:g.90588866C>A	ENSP00000322343:p.Ala54Ser					CDK20_uc004aps.2_Missense_Mutation_p.A54S|CDK20_uc004apt.2_Missense_Mutation_p.A67S|CDK20_uc004apu.2_Missense_Mutation_p.A54S	p.A54S	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN			2	466	-			54			Protein kinase.		A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Missense_Mutation	SNP	ENST00000325303.8	37	c.160G>T	CCDS35060.1	.	.	.	.	.	.	.	.	.	.	.	16.13	3.035930	0.54896	.	.	ENSG00000156345	ENST00000375883;ENST00000336654;ENST00000375871;ENST00000325303;ENST00000286878	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.55	4.55	0.56014	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.31752	0.955	0.58432	D	0.999997	B;B;P;B	0.35107	0.328;0.03;0.484;0.003	B;B;B;B	0.42916	0.155;0.323;0.402;0.047	T	0.62613	-0.6817	10	0.66056	D	0.02	-18.7516	13.1841	0.59672	0.0:1.0:0.0:0.0	.	54;67;54;54	Q8IZL9-2;A2A390;E7EQ88;Q8IZL9	.;.;.;CDK20_HUMAN	S	54;67;54;54;54	ENSP00000365043:A54S;ENSP00000338975:A67S;ENSP00000365031:A54S;ENSP00000322343:A54S	ENSP00000286878:A54S	A	-	1	0	CDK20	89778686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.869000	0.69613	2.260000	0.74910	0.555000	0.69702	GCT		0.562	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119		150	46	1	0	1.3337e-71	0.00361	2.62213e-71	150	46				
NXNL2	158046	broad.mit.edu	37	9	91150599	91150599	+	Missense_Mutation	SNP	C	C	A	rs146062765		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:91150599C>A	ENST00000375854.3	+	1	584	c.250C>A	c.(250-252)Cgc>Agc	p.R84S	NXNL2_ENST00000487646.2_3'UTR|NXNL2_ENST00000375855.3_Missense_Mutation_p.R84S	NM_001161625.1	NP_001155097.1	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	84	Thioredoxin.				photoreceptor cell maintenance (GO:0045494)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)			p.R84S(2)		lung(3)	3						GGACTTCATGCGCGAGCTGCA	0.726																																							uc011ltj.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(250-252)CGC>AGC		nucleoredoxin-like 2 isoform 1							20.0	25.0	23.0					9																	91150599		2143	4252	6395	SO:0001583	missense	158046							g.chr9:91150599C>A	BC022521	CCDS6679.1, CCDS55325.1	9q22.2	2008-02-05	2007-08-16	2007-08-16	ENSG00000130045	ENSG00000130045			30482	protein-coding gene	gene with protein product		615299	"""chromosome 9 open reading frame 121"""	C9orf121		12477932	Standard	NM_001161625		Approved		uc011ltj.2	Q5VZ03	OTTHUMG00000020170	ENST00000375854.3:c.250C>A	9.37:g.91150599C>A	ENSP00000365014:p.Arg84Ser					NXNL2_uc004aqa.2_Missense_Mutation_p.R84S	p.R84S	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN			1	584	+			84			Thioredoxin.		B1AMD0|Q8TBG6	Missense_Mutation	SNP	ENST00000375854.3	37	c.250C>A	CCDS55325.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713764	0.30413	.	.	ENSG00000130045	ENST00000375854;ENST00000375855	T;T	0.80214	-1.35;2.28	3.95	3.04	0.35103	Thioredoxin-like fold (2);	0.219640	0.37053	N	0.002278	T	0.62405	0.2425	N	0.13352	0.335	0.38665	D	0.952166	B;P	0.37573	0.408;0.6	B;B	0.34991	0.165;0.193	T	0.59731	-0.7399	10	0.14656	T	0.56	-10.1512	12.8384	0.57786	0.1646:0.8354:0.0:0.0	.	84;84	Q5VZ03;Q5VZ03-3	NXNL2_HUMAN;.	S	84	ENSP00000365014:R84S;ENSP00000365015:R84S	ENSP00000365014:R84S	R	+	1	0	NXNL2	90340419	1.000000	0.71417	0.963000	0.40424	0.221000	0.24807	2.014000	0.40951	0.854000	0.35336	0.491000	0.48974	CGC		0.726	NXNL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145283		58	17	1	0	1.48873e-21	0.00361	2.44762e-21	58	17				
CCDC180	100499483	broad.mit.edu	37	9	100057180	100057180	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:100057180G>T	ENST00000357054.1	+	14	1239	c.304G>T	c.(304-306)Gtg>Ttg	p.V102L	CCDC180_ENST00000411667.2_5'UTR|RP11-23J9.5_ENST00000375204.2_RNA|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.V102L|CCDC180_ENST00000375205.2_Missense_Mutation_p.V142L			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	102						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V102L(1)									CATCAACCCTGTGCTTGTCAG	0.507																																							uc011lut.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(304-306)GTG>TTG		hypothetical protein LOC57653							173.0	133.0	146.0					9																	100057180		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100057180G>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.304G>T	9.37:g.100057180G>T	ENSP00000349562:p.Val102Leu					KIAA1529_uc011lur.1_RNA|KIAA1529_uc004axe.1_Missense_Mutation_p.V102L|KIAA1529_uc011lus.1_Intron|KIAA1529_uc010msm.1_RNA	p.V102L	NM_020893	NP_065944					12	1077	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.304G>T		.	.	.	.	.	.	.	.	.	.	G	24.1	4.492800	0.84962	.	.	ENSG00000197816	ENST00000375205;ENST00000357054;ENST00000395220	D;D;D	0.82711	-1.64;-1.64;-1.64	5.63	5.63	0.86233	.	.	.	.	.	D	0.91476	0.7309	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.91575	0.5274	8	0.59425	D	0.04	.	17.5594	0.87901	0.0:0.0:1.0:0.0	.	102;102	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	L	142;102;102	ENSP00000364351:V142L;ENSP00000349562:V102L;ENSP00000378646:V102L	ENSP00000349562:V102L	V	+	1	0	C9orf174	99097001	1.000000	0.71417	0.975000	0.42487	0.975000	0.68041	5.561000	0.67339	2.827000	0.97445	0.650000	0.86243	GTG		0.507	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		10	31	1	0	1.61879e-10	0.001368	2.14227e-10	10	31				
HEMGN	55363	broad.mit.edu	37	9	100692396	100692396	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:100692396G>C	ENST00000259456.3	-	4	1424	c.1281C>G	c.(1279-1281)caC>caG	p.H427Q		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	427					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.H427Q(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTGTTTCTTGGTGTGGTTCTG	0.448																																							uc004axy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1279-1281)CAC>CAG		hemogen							255.0	239.0	244.0					9																	100692396		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100692396G>C	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.1281C>G	9.37:g.100692396G>C	ENSP00000259456:p.His427Gln					HEMGN_uc004axz.2_Missense_Mutation_p.H427Q	p.H427Q	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			3	1389	-		Acute lymphoblastic leukemia(62;0.0559)	427					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.1281C>G	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	G	4.158	0.027819	0.08054	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.71	1.86	0.25419	.	2.466080	0.01249	N	0.008839	T	0.23451	0.0567	N	0.14661	0.345	0.18873	N	0.999989	B	0.22683	0.073	B	0.21917	0.037	T	0.14896	-1.0456	9	0.25106	T	0.35	6.3508	5.1333	0.14922	0.1861:0.1694:0.6445:0.0	.	427	Q9BXL5	HEMGN_HUMAN	Q	427	.	ENSP00000259456:H427Q	H	-	3	2	HEMGN	99732217	0.542000	0.26426	0.328000	0.25416	0.323000	0.28346	0.463000	0.21972	0.321000	0.23259	-0.123000	0.14984	CAC		0.448	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		3	174	0	0	0	0.004672	0	3	174				
COL15A1	1306	broad.mit.edu	37	9	101797398	101797398	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:101797398C>A	ENST00000375001.3	+	18	2605	c.2182C>A	c.(2182-2184)Ccc>Acc	p.P728T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	728	Collagen-like 2.|Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.P728T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACCCCCTGGGCCCCCAGGCCC	0.572																																							uc004azb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(2182-2184)CCC>ACC		alpha 1 type XV collagen precursor							53.0	59.0	57.0					9																	101797398		2203	4297	6500	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101797398C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2182C>A	9.37:g.101797398C>A	ENSP00000364140:p.Pro728Thr						p.P728T	NM_001855	NP_001846	P39059	COFA1_HUMAN			18	2388	+		Acute lymphoblastic leukemia(62;0.0562)	728			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2182C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685818	0.47991	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.93906	-3.31	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.96473	0.8849	M	0.84585	2.705	0.44036	D	0.996763	D	0.89917	1.0	D	0.91635	0.999	D	0.95173	0.8292	10	0.21014	T	0.42	-13.4881	14.7157	0.69265	0.0:1.0:0.0:0.0	.	728	P39059	COFA1_HUMAN	T	728;698	ENSP00000364140:P728T	ENSP00000364140:P728T	P	+	1	0	COL15A1	100837219	0.950000	0.32346	0.948000	0.38648	0.813000	0.45954	4.035000	0.57297	2.535000	0.85469	0.655000	0.94253	CCC		0.572	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		15	43	1	0	4.7546e-09	0.004007	6.00708e-09	15	43				
TMEFF1	8577	broad.mit.edu	37	9	103310025	103310025	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:103310025G>T	ENST00000374879.4	+	6	992		c.e6-1		TMEFF1_ENST00000334943.6_Splice_Site|MSANTD3-TMEFF1_ENST00000502978.1_Splice_Site	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1						multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TTTTCCAACAGGTGTGTATGT	0.348																																							uc004baz.1		NA																	1	Unknown(1)		lung(1)		0						c.e6-1		transmembrane protein with EGF-like and two							141.0	136.0	138.0					9																	103310025		2203	4299	6502	SO:0001630	splice_region_variant	8577				multicellular organismal development	integral to membrane|plasma membrane		g.chr9:103310025G>T	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.561-1G>T	9.37:g.103310025G>T						TMEFF1_uc004bay.1_Splice_Site_p.G261_splice	p.G187_splice	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN			6	671	+		Acute lymphoblastic leukemia(62;0.0452)						Q13086|Q8N3T8	Splice_Site	SNP	ENST00000374879.4	37	c.561_splice	CCDS6750.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636447	0.87760	.	.	ENSG00000251349;ENSG00000241697;ENSG00000241697	ENST00000502978;ENST00000334943;ENST00000374879	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9458	0.89038	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEFF1;C9orf30-TMEFF1	102349846	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.855000	0.99526	2.838000	0.97847	0.591000	0.81541	.		0.348	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692	Intron	20	41	1	0	4.35082e-09	0.010504	5.51543e-09	20	41				
BAAT	570	broad.mit.edu	37	9	104125073	104125073	+	Silent	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:104125073A>C	ENST00000395051.3	-	3	964	c.894T>G	c.(892-894)acT>acG	p.T298T	BAAT_ENST00000259407.2_Silent_p.T298T			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	298					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)	p.T298T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TTGTCTCAAAAGTGCGATAGA	0.453																																							uc010mtd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(892-894)ACT>ACG		bile acid Coenzyme A: amino acid	Glycine(DB00145)						104.0	105.0	105.0					9																	104125073		2203	4300	6503	SO:0001819	synonymous_variant	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104125073A>C	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.894T>G	9.37:g.104125073A>C						BAAT_uc004bbd.3_Silent_p.T298T	p.T298T	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN			4	1003	-		Acute lymphoblastic leukemia(62;0.0559)	298					Q3B7W9|Q96L31	Silent	SNP	ENST00000395051.3	37	c.894T>G	CCDS6752.1																																																																																				0.453	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			4	76	0	0	0	0.009096	0	4	76				
GRIN3A	116443	broad.mit.edu	37	9	104433358	104433358	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:104433358T>C	ENST00000361820.3	-	3	1936	c.1336A>G	c.(1336-1338)Agt>Ggt	p.S446G		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	446					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.S446G(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ATGGAACCACTGAGGCCTCTG	0.458																																							uc004bbp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1336-1338)AGT>GGT		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						105.0	109.0	107.0					9																	104433358		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104433358T>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1336A>G	9.37:g.104433358T>C	ENSP00000355155:p.Ser446Gly					GRIN3A_uc004bbq.1_Missense_Mutation_p.S446G	p.S446G	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	1937	-		Acute lymphoblastic leukemia(62;0.0568)	446			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1336A>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259306	0.80246	.	.	ENSG00000198785	ENST00000361820	D	0.86562	-2.14	5.76	5.76	0.90799	.	0.054207	0.64402	D	0.000001	D	0.87212	0.6121	M	0.68317	2.08	0.54753	D	0.999989	B	0.22683	0.073	B	0.26969	0.075	D	0.84824	0.0798	10	0.66056	D	0.02	.	16.3634	0.83296	0.0:0.0:0.0:1.0	.	446	Q8TCU5	NMD3A_HUMAN	G	446	ENSP00000355155:S446G	ENSP00000355155:S446G	S	-	1	0	GRIN3A	103473179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.068000	0.71201	2.324000	0.78689	0.533000	0.62120	AGT		0.458	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			24	66	0	0	0	0.003954	0	24	66				
TLR4	7099	broad.mit.edu	37	9	120476380	120476380	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:120476380G>T	ENST00000355622.6	+	3	2075	c.1974G>T	c.(1972-1974)ctG>ctT	p.L658L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L618L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	658					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L658L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ATTTTCACCTGATGCTTCTTG	0.433																																							uc004bjz.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1972-1974)CTG>CTT		toll-like receptor 4 precursor							144.0	130.0	135.0					9																	120476380		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476380G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1974G>T	9.37:g.120476380G>T						TLR4_uc004bka.2_Silent_p.L618L|TLR4_uc004bkb.2_Silent_p.L458L	p.L658L	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2265	+			658			Cytoplasmic (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1974G>T	CCDS6818.1																																																																																				0.433	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		14	31	1	0	3.27435e-08	0.00245	4.01561e-08	14	31				
MAPKAP1	79109	broad.mit.edu	37	9	128434679	128434679	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:128434679C>A	ENST00000373498.1	-	1	243	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.G59C|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.G59C|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.G59C|MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.G59C			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	59	Interaction with MAP3K2.|Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)	p.G59C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGAGTCTCACCATTGCTTCCC	0.433																																							uc004bpv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)	4						c.(175-177)GGT>TGT		mitogen-activated protein kinase associated							149.0	108.0	122.0					9																	128434679		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128434679C>A	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.175G>T	9.37:g.128434679C>A	ENSP00000362597:p.Gly59Cys					MAPKAP1_uc004bpw.2_Intron|MAPKAP1_uc004bpx.2_Intron|MAPKAP1_uc004bpy.2_Missense_Mutation_p.G59C|MAPKAP1_uc004bpz.2_Missense_Mutation_p.G59C|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bqa.2_Missense_Mutation_p.G59C	p.G59C	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN			2	508	-			59			Interaction with MAP3K2.		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.175G>T	CCDS35140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.082542|4.082542	0.76528|0.76528	.|.	.|.	ENSG00000119487|ENSG00000119487	ENST00000373496|ENST00000373511;ENST00000350766;ENST00000373498;ENST00000265960;ENST00000373505;ENST00000394060;ENST00000433483	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.257504	.|0.45126	.|D	.|0.000388	T|T	0.76615|0.76615	0.4012|0.4012	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|D;P;D;D	.|0.60160	.|0.963;0.929;0.965;0.987	.|P;P;P;P	.|0.61800	.|0.621;0.695;0.759;0.894	T|T	0.76833|0.76833	-0.2813|-0.2813	6|9	0.87932|0.62326	D|D	0|0.03	-6.8884|-6.8884	20.0804|20.0804	0.97772|0.97772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|59;59;59;59	.|Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.|.;.;.;SIN1_HUMAN	S|C	59|59;59;59;59;14;59;59	.|.	ENSP00000362595:A59S|ENSP00000265960:G59C	A|G	-|-	1|1	0|0	MAPKAP1|MAPKAP1	127474500|127474500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.584000|3.584000	0.53936|0.53936	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	GCT|GGT		0.433	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			13	23	1	0	1.5842e-08	0.001855	1.97828e-08	13	23				
ODF2	4957	broad.mit.edu	37	9	131262412	131262412	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:131262412A>C	ENST00000434106.3	+	21	2731	c.2368A>C	c.(2368-2370)Aac>Cac	p.N790H	ODF2_ENST00000372807.5_Missense_Mutation_p.N785H|ODF2_ENST00000351030.3_Missense_Mutation_p.N785H|ODF2_ENST00000604420.1_Missense_Mutation_p.N790H|ODF2_ENST00000393527.3_Missense_Mutation_p.N766H|ODF2_ENST00000444119.2_Missense_Mutation_p.N766H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	790					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.N766H(1)|p.N790H(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGAGAGCACCAACCGCAGCAT	0.582																																							uc011mbd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2368-2370)AAC>CAC		outer dense fiber of sperm tails 2 isoform 1							207.0	165.0	180.0					9																	131262412		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131262412A>C	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2368A>C	9.37:g.131262412A>C	ENSP00000403453:p.Asn790His					ODF2_uc004bvb.2_Missense_Mutation_p.N766H|ODF2_uc011mbe.1_Missense_Mutation_p.N785H|ODF2_uc004bvc.2_Missense_Mutation_p.N766H|ODF2_uc004bvd.3_Missense_Mutation_p.N790H|ODF2_uc004bvh.2_Missense_Mutation_p.N196H	p.N790H	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			21	2679	+			790			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.2368A>C	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	29.4	4.998948	0.93227	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.29142	1.59;1.58;1.58	5.34	5.34	0.76211	.	0.055221	0.64402	D	0.000002	T	0.54983	0.1892	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.993;1.0;1.0	D;D;D;D	0.78314	0.991;0.913;0.991;0.991	T	0.56189	-0.8020	10	0.44086	T	0.13	-20.4311	14.5136	0.67804	1.0:0.0:0.0:0.0	.	785;135;790;766	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	H	785;790;766	ENSP00000342581:N785H;ENSP00000361882:N790H;ENSP00000307781:N766H	ENSP00000307781:N766H	N	+	1	0	ODF2	130302233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.026000	0.59711	0.459000	0.35465	AAC		0.582	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			5	67	0	0	0	0.001168	0	5	67				
MXRA5	25878	broad.mit.edu	37	X	3228241	3228241	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:3228241C>G	ENST00000217939.6	-	7	8157	c.8003G>C	c.(8002-8004)cGt>cCt	p.R2668P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2668	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)		p.R2668P(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCAGGAGAAACGTCCCTGCCC	0.597																																							uc004crg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(8002-8004)CGT>CCT		adlican precursor							58.0	55.0	56.0					X																	3228241		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3228241C>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8003G>C	X.37:g.3228241C>G	ENSP00000217939:p.Arg2668Pro						p.R2668P	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	8160	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2668			Ig-like C2-type 11.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.8003G>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	6.222	0.409074	0.11812	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.13196	2.61	4.47	-0.589	0.11683	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.457234	0.15734	U	0.247241	T	0.33030	0.0849	M	0.83483	2.645	0.09310	N	1	D	0.71674	0.998	D	0.64877	0.93	T	0.11203	-1.0597	10	0.42905	T	0.14	.	10.8533	0.46782	0.0:0.4407:0.0:0.5593	.	2668	Q9NR99	MXRA5_HUMAN	P	2668	ENSP00000217939:R2668P	ENSP00000217939:R2668P	R	-	2	0	MXRA5	3238241	0.017000	0.18338	0.000000	0.03702	0.001000	0.01503	0.543000	0.23237	-0.304000	0.08843	-0.879000	0.02964	CGT		0.597	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		30	62	0	0	0	0.010818	0	30	62				
NLGN4X	57502	broad.mit.edu	37	X	5811257	5811257	+	Silent	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:5811257C>T	ENST00000381095.3	-	6	2679	c.2052G>A	c.(2050-2052)tcG>tcA	p.S684S	NLGN4X_ENST00000275857.6_Silent_p.S684S|NLGN4X_ENST00000381092.1_Silent_p.S684S|NLGN4X_ENST00000538097.1_Silent_p.S684S|NLGN4X_ENST00000381093.2_Silent_p.S704S	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	684					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.S684S(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGAAGAGGAGCGACGCCCCGA	0.527																																							uc010ndh.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(2050-2052)TCG>TCA		X-linked neuroligin 4 precursor							108.0	97.0	100.0					X																	5811257		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811257C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2052G>A	X.37:g.5811257C>T						NLGN4X_uc004crp.2_Silent_p.S704S|NLGN4X_uc004crq.2_Silent_p.S684S|NLGN4X_uc010ndi.2_Silent_p.S721S|NLGN4X_uc004crr.2_Silent_p.S684S|NLGN4X_uc010ndj.2_Silent_p.S684S	p.S684S	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2553	-			684			Helical; (Potential).		Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.2052G>A	CCDS14126.1																																																																																				0.527	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		28	89	0	0	0	0.00632	0	28	89				
KAL1	3730	broad.mit.edu	37	X	8503631	8503631	+	Splice_Site	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:8503631C>A	ENST00000262648.3	-	12	1992		c.e12+1		KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GTGGGACCTACGGAAGGCAGG	0.493																																							uc004csf.2		NA																	1	Unknown(1)		lung(1)	ovary(3)|pancreas(1)	4						c.e12+1		Kallmann syndrome 1 protein precursor							139.0	102.0	114.0					X																	8503631		2203	4300	6503	SO:0001630	splice_region_variant	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8503631C>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1842+1G>T	X.37:g.8503631C>A							p.S614_splice	NM_000216	NP_000207	P23352	KALM_HUMAN			12	1992	-								B2RPF8	Splice_Site	SNP	ENST00000262648.3	37	c.1842_splice	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261446	0.39995	.	.	ENSG00000011201	ENST00000262648	.	.	.	4.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3661	0.74523	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KAL1	8463631	1.000000	0.71417	0.028000	0.17463	0.046000	0.14306	6.629000	0.74267	1.807000	0.52817	0.600000	0.82982	.		0.493	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216	Intron	12	33	1	0	1.08611e-07	0.010729	1.32123e-07	12	33				
TLR7	51284	broad.mit.edu	37	X	12905272	12905272	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:12905272T>A	ENST00000380659.3	+	3	1784	c.1645T>A	c.(1645-1647)Ttc>Atc	p.F549I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	549					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.F549I(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ATATTTGGACTTCTCCAACAA	0.388																																							uc004cvc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(1645-1647)TTC>ATC		toll-like receptor 7 precursor	Imiquimod(DB00724)						193.0	204.0	200.0					X																	12905272		2203	4299	6502	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905272T>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1645T>A	X.37:g.12905272T>A	ENSP00000370034:p.Phe549Ile						p.F549I	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	1784	+			549			Extracellular (Potential).|LRR 18.		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.1645T>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.181702	0.57800	.	.	ENSG00000196664	ENST00000380659	T	0.78246	-1.16	5.84	4.64	0.57946	.	0.117022	0.64402	N	0.000019	T	0.77896	0.4199	L	0.43757	1.38	0.51482	D	0.999927	P	0.39480	0.675	P	0.48921	0.595	T	0.77205	-0.2673	10	0.66056	D	0.02	.	11.3945	0.49834	0.1376:0.0:0.0:0.8624	.	549	Q9NYK1	TLR7_HUMAN	I	549	ENSP00000370034:F549I	ENSP00000370034:F549I	F	+	1	0	TLR7	12815193	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	5.086000	0.64474	0.783000	0.33636	0.486000	0.48141	TTC		0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		213	381	0	0	0	0.00361	0	213	381				
GLRA2	2742	broad.mit.edu	37	X	14627195	14627195	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:14627195G>T	ENST00000218075.4	+	7	1328	c.798G>T	c.(796-798)ctG>ctT	p.L266L	GLRA2_ENST00000443437.2_Silent_p.L177L|GLRA2_ENST00000355020.4_Silent_p.L266L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	266					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.L266L(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TCCCAAGCCTGCTTATAGTAA	0.453																																							uc010nep.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(796-798)CTG>CTT		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						115.0	112.0	113.0					X																	14627195		2203	4300	6503	SO:0001819	synonymous_variant	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14627195G>T		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.798G>T	X.37:g.14627195G>T						GLRA2_uc010neq.2_Silent_p.L266L|GLRA2_uc004cwe.3_Silent_p.L266L|GLRA2_uc011mio.1_Silent_p.L177L|GLRA2_uc011mip.1_Silent_p.L244L	p.L266L	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			8	1130	+	Hepatocellular(33;0.128)		266			Helical; (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	ENST00000218075.4	37	c.798G>T	CCDS14160.1																																																																																				0.453	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			58	132	1	0	3.7469e-33	0.00361	6.7498e-33	58	132				
GRPR	2925	broad.mit.edu	37	X	16142118	16142118	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:16142118C>A	ENST00000380289.2	+	1	440	c.42C>A	c.(40-42)gaC>gaA	p.D14E		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	14					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.D14E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TGGAGGTGGACCATTTCATGC	0.453											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc004cxj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(40-42)GAC>GAA		gastrin-releasing peptide receptor							186.0	184.0	185.0					X																	16142118		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16142118C>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.42C>A	X.37:g.16142118C>A	ENSP00000369643:p.Asp14Glu		OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	708		p.D14E	NM_005314	NP_005305	P30550	GRPR_HUMAN			1	695	+	Hepatocellular(33;0.183)		14			Extracellular (Potential).		B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.42C>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054237	0.36277	.	.	ENSG00000126010	ENST00000380289	T	0.36699	1.24	5.39	3.57	0.40892	.	1.064960	0.07124	N	0.844466	T	0.32315	0.0825	L	0.59436	1.845	0.24235	N	0.995388	B	0.02656	0.0	B	0.01281	0.0	T	0.38308	-0.9667	10	0.12766	T	0.61	-14.6003	6.012	0.19582	0.1539:0.6687:0.0:0.1774	.	14	P30550	GRPR_HUMAN	E	14	ENSP00000369643:D14E	ENSP00000369643:D14E	D	+	3	2	GRPR	16052039	0.003000	0.15002	0.741000	0.31004	0.974000	0.67602	-0.046000	0.11983	0.533000	0.28675	0.600000	0.82982	GAC		0.453	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		134	272	1	0	1.0049e-60	0.00361	1.94522e-60	134	272				
DCAF8L2	347442	broad.mit.edu	37	X	27766660	27766660	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:27766660C>A	ENST00000451261.2	+	5	2047	c.1648C>A	c.(1648-1650)Ctt>Att	p.L550I		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	550								p.L517I(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGCCACTGAGCTTACTGGGTT	0.488																																							uc011mjy.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1648-1650)CTT>ATT		DDB1 and CUL4 associated factor 8-like 2							103.0	82.0	89.0					X																	27766660		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766660C>A		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1648C>A	X.37:g.27766660C>A	ENSP00000462745:p.Leu550Ile						p.L550I	NM_001136533	NP_001130005					1	1735	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1648C>A	CCDS59162.1																																																																																				0.488	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		9	20	1	0	9.70103e-10	0.008291	1.25298e-09	9	20				
MAGEB10	139422	broad.mit.edu	37	X	27839829	27839829	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:27839829G>T	ENST00000356790.2	+	3	651	c.406G>T	c.(406-408)Gat>Tat	p.D136Y		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	136	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.D136Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TACAAAGGCAGATATGCTGAG	0.443																																							uc004dbw.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)|central_nervous_system(1)	3						c.(406-408)GAT>TAT		melanoma antigen family B, 10							63.0	59.0	60.0					X																	27839829		2202	4300	6502	SO:0001583	missense	139422							g.chrX:27839829G>T		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.406G>T	X.37:g.27839829G>T	ENSP00000368304:p.Asp136Tyr						p.D136Y	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN			3	633	+			136			MAGE.		Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	c.406G>T	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606618	0.28623	.	.	ENSG00000177689	ENST00000356790	T	0.05786	3.39	2.49	1.6	0.23607	.	0.068715	0.56097	U	0.000032	T	0.23572	0.0570	M	0.90705	3.14	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.04678	-1.0934	10	0.87932	D	0	.	4.5692	0.12202	0.196:0.0:0.804:0.0	.	136	Q96LZ2	MAGBA_HUMAN	Y	136	ENSP00000368304:D136Y	ENSP00000368304:D136Y	D	+	1	0	MAGEB10	27749750	0.153000	0.22777	0.020000	0.16555	0.040000	0.13550	2.456000	0.44997	0.455000	0.26910	0.292000	0.19580	GAT		0.443	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		37	73	1	0	1.59932e-28	0.007835	2.78771e-28	37	73				
MAGEB3	4114	broad.mit.edu	37	X	30254366	30254366	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:30254366G>T	ENST00000361644.2	+	5	1062	c.325G>T	c.(325-327)Gac>Tac	p.D109Y		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	109								p.D109Y(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GTCTCGCACAGACCCTCTAAT	0.398																																							uc004dca.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GAC>TAC		melanoma antigen family B, 3							55.0	48.0	50.0					X																	30254366		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254366G>T	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.325G>T	X.37:g.30254366G>T	ENSP00000355198:p.Asp109Tyr						p.D109Y	NM_002365	NP_002356	O15480	MAGB3_HUMAN			5	1062	+			109					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.325G>T	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.070317	0.36566	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.02631	4.22;4.22	4.1	1.21	0.21127	.	1.786640	0.03788	U	0.262424	T	0.09468	0.0233	L	0.56280	1.765	0.09310	N	1	D	0.55605	0.972	P	0.59487	0.858	T	0.19224	-1.0312	10	0.87932	D	0	.	5.1368	0.14939	0.1245:0.411:0.4645:0.0	.	109	O15480	MAGB3_HUMAN	Y	109	ENSP00000368271:D109Y;ENSP00000355198:D109Y	ENSP00000355198:D109Y	D	+	1	0	MAGEB3	30164287	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.074000	0.11450	0.115000	0.18071	0.600000	0.82982	GAC		0.398	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		17	51	1	0	2.48551e-13	0.00499	3.47878e-13	17	51				
DMD	1756	broad.mit.edu	37	X	31462617	31462617	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:31462617G>T	ENST00000357033.4	-	60	9271	c.9065C>A	c.(9064-9066)aCc>aAc	p.T3022N	DMD_ENST00000474231.1_Missense_Mutation_p.T562N|DMD_ENST00000359836.1_Missense_Mutation_p.T562N|DMD_ENST00000378707.3_Missense_Mutation_p.T562N|DMD_ENST00000541735.1_Missense_Mutation_p.T562N|DMD_ENST00000378677.2_Missense_Mutation_p.T3018N|DMD_ENST00000343523.2_Missense_Mutation_p.T562N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3022					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.T562N(1)|p.T3017N(1)|p.T1681N(1)|p.T3018N(1)|p.T3022N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTCCATCTGGTGTTCAGGTC	0.413																																							uc004dda.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(9064-9066)ACC>AAC		dystrophin Dp427m isoform							142.0	117.0	126.0					X																	31462617		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31462617G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9065C>A	X.37:g.31462617G>T	ENSP00000354923:p.Thr3022Asn					DMD_uc004dcq.1_Missense_Mutation_p.T293N|DMD_uc004dcr.1_Missense_Mutation_p.T562N|DMD_uc004dcs.1_Missense_Mutation_p.T562N|DMD_uc004dct.1_Missense_Mutation_p.T562N|DMD_uc004dcu.1_Missense_Mutation_p.T562N|DMD_uc004dcv.1_Missense_Mutation_p.T562N|DMD_uc004dcw.2_Missense_Mutation_p.T1678N|DMD_uc004dcx.2_Missense_Mutation_p.T1681N|DMD_uc004dcz.2_Missense_Mutation_p.T2899N|DMD_uc004dcy.1_Missense_Mutation_p.T3018N|DMD_uc004ddb.1_Missense_Mutation_p.T3014N	p.T3022N	NM_004006	NP_003997	P11532	DMD_HUMAN			60	9309	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3022			Spectrin 22.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.9065C>A	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.11|15.11	2.737536|2.737536	0.49045|0.49045	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.56|5.56	3.71|3.71	0.42584|0.42584	.|.	.|0.000000	.|0.34555	.|U	.|0.003863	T|T	0.55081|0.55081	0.1898|0.1898	L|L	0.50333|0.50333	1.59|1.59	0.34334|0.34334	D|D	0.687986|0.687986	.|P;P;B;D;D;B;P;P;P;P;P	.|0.61697	.|0.951;0.92;0.0;0.99;0.99;0.029;0.464;0.464;0.801;0.763;0.886	.|P;P;B;P;P;B;B;B;P;P;P	.|0.62491	.|0.699;0.723;0.004;0.903;0.903;0.025;0.395;0.284;0.598;0.463;0.503	T|T	0.61758|0.61758	-0.6997|-0.6997	5|10	.|0.28530	.|T	.|0.3	.|.	9.7512|9.7512	0.40477|0.40477	0.0:0.2693:0.5853:0.1454|0.0:0.2693:0.5853:0.1454	.|.	.|3014;3022;3018;1681;1678;562;562;562;562;562;2899	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	Q|N	750|3014;1681;1678;718;3018;3022;562;562;3022;2899;562;562;562	.|ENSP00000350765:T718N;ENSP00000367948:T3018N;ENSP00000354923:T3022N;ENSP00000352894:T562N;ENSP00000340057:T562N;ENSP00000367979:T562N;ENSP00000444119:T562N;ENSP00000417123:T562N	.|ENSP00000340057:T562N	H|T	-|-	3|2	2|0	DMD|DMD	31372538|31372538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.524000|1.524000	0.35942|0.35942	0.471000|0.471000	0.27319|0.27319	0.538000|0.538000	0.68166|0.68166	CAC|ACC		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		56	72	1	0	2.18419e-29	0.00361	3.85175e-29	56	72				
OTC	5009	broad.mit.edu	37	X	38271170	38271170	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:38271170C>A	ENST00000039007.4	+	9	1075	c.923C>A	c.(922-924)cCa>cAa	p.P308Q	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	308					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.P308Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CCCAGAAAGCCAGAAGAAGTG	0.423																																							uc004def.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(922-924)CCA>CAA		ornithine carbamoyltransferase precursor	L-Citrulline(DB00155)|L-Ornithine(DB00129)						165.0	144.0	151.0					X																	38271170		2202	4300	6502	SO:0001583	missense	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38271170C>A	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.923C>A	X.37:g.38271170C>A	ENSP00000039007:p.Pro308Gln						p.P308Q	NM_000531	NP_000522	P00480	OTC_HUMAN			9	1137	+			308					A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	c.923C>A	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	C	9.406	1.079207	0.20227	.	.	ENSG00000036473	ENST00000039007	D	0.98849	-5.18	5.16	5.16	0.70880	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.255690	0.45867	D	0.000338	D	0.96540	0.8871	L	0.31157	0.91	0.53688	D	0.999975	B	0.09022	0.002	B	0.10450	0.005	D	0.93966	0.7245	10	0.45353	T	0.12	-13.6857	18.0151	0.89236	0.0:1.0:0.0:0.0	.	308	P00480	OTC_HUMAN	Q	308	ENSP00000039007:P308Q	ENSP00000039007:P308Q	P	+	2	0	OTC	38156114	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	2.725000	0.47294	2.276000	0.75962	0.594000	0.82650	CCA		0.423	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			89	153	1	0	7.61764e-41	0.00361	1.42335e-40	89	153				
RP2	6102	broad.mit.edu	37	X	46713296	46713296	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:46713296G>T	ENST00000218340.3	+	2	649	c.488G>T	c.(487-489)gGg>gTg	p.G163V		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	163	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)	p.G163V(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						AAAGATGCAGGGCTAAGTATC	0.408																																							uc004dgw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(487-489)GGG>GTG		XRP2 protein							114.0	100.0	104.0					X																	46713296		2203	4300	6503	SO:0001583	missense	6102				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	g.chrX:46713296G>T	AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.488G>T	X.37:g.46713296G>T	ENSP00000218340:p.Gly163Val						p.G163V	NM_006915	NP_008846	O75695	XRP2_HUMAN			2	677	+			163			C-CAP/cofactor C-like.		Q86XJ7|Q9NU67	Missense_Mutation	SNP	ENST00000218340.3	37	c.488G>T	CCDS14270.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669424	0.67814	.	.	ENSG00000102218	ENST00000218340	D	0.88741	-2.42	5.64	4.77	0.60923	Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.045792	0.85682	D	0.000000	D	0.94955	0.8368	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.95345	0.8441	10	0.66056	D	0.02	-19.7236	15.7351	0.77837	0.0:0.1331:0.8669:0.0	.	163	O75695	XRP2_HUMAN	V	163	ENSP00000218340:G163V	ENSP00000218340:G163V	G	+	2	0	RP2	46598240	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.497000	0.81536	1.124000	0.41980	0.600000	0.82982	GGG		0.408	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056375.1	NM_006915		49	82	1	0	1.63038e-21	0.00361	2.67467e-21	49	82				
ZNF157	7712	broad.mit.edu	37	X	47272883	47272883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:47272883G>T	ENST00000377073.3	+	4	1497	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	471					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)	p.E471*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAGACCCTTTGAGTGTCAAGA	0.453																																							uc004dhr.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1411-1413)GAG>TAG		zinc finger protein 157							70.0	61.0	64.0					X																	47272883		2203	4300	6503	SO:0001587	stop_gained	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272883G>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1411G>T	X.37:g.47272883G>T	ENSP00000366273:p.Glu471*						p.E471*	NM_003446	NP_003437	P51786	ZN157_HUMAN			4	1480	+			471			C2H2-type 12.		Q96LE9	Nonsense_Mutation	SNP	ENST00000377073.3	37	c.1411G>T	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.032991	0.93575	.	.	ENSG00000147117	ENST00000377073	.	.	.	3.37	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	11.8906	0.52626	0.0:0.0:1.0:0.0	.	.	.	.	X	471	.	ENSP00000366273:E471X	E	+	1	0	ZNF157	47157827	0.000000	0.05858	0.996000	0.52242	0.990000	0.78478	-0.293000	0.08320	1.946000	0.56461	0.600000	0.82982	GAG		0.453	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		18	31	1	0	1.00905e-13	0.008871	1.42822e-13	18	31				
SSX6	280657	broad.mit.edu	37	X	47969414	47969414	+	IGR	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:47969414A>T								snoU13 (28175 upstream) : SSX6 (7051 downstream)														p.A17A(1)									ATGCTAAAGCATCAGAGAAGA	0.567																																							uc004dix.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(49-51)GCA>GCT		SubName: Full=Putative uncharacterized protein SSX1;							117.0	97.0	104.0					X																	47969414		2195	4289	6484	SO:0001628	intergenic_variant	280657							g.chrX:47969414A>T																													X.37:g.47969414A>T						SSX6_uc011mlv.1_Silent_p.A17A	p.A17A	NM_173357	NP_775493					2	173	+									Silent	SNP		37	c.51A>T																																																																																				0	0.567									41	55	0	0	0	0.010771	0	41	55				
EBP	10682	broad.mit.edu	37	X	48386709	48386709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:48386709G>A	ENST00000495186.1	+	5	1380	c.557G>A	c.(556-558)tGg>tAg	p.W186*	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	186					cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)	p.W186*(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	CTCTACTTCTGGTTTTACTTT	0.567																																					Ovarian(41;550 1000 33077 33474 52335)	Ovarian(41;550 1000 33077 33474 52335)	uc004djx.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(556-558)TGG>TAG		emopamil binding protein (sterol isomerase)							170.0	113.0	132.0					X																	48386709		2203	4300	6503	SO:0001587	stop_gained	10682				cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity	g.chrX:48386709G>A	Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"""3-beta-hydroxysteroid-delta-8,delta-7-isomerase"", ""Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)"", ""sterol 8-isomerase"""	300205	"""emopamil-binding protein (sterol isomerase)"""	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.557G>A	X.37:g.48386709G>A	ENSP00000417052:p.Trp186*					EBP_uc004djy.3_Nonsense_Mutation_p.W186*|EBP_uc004djz.2_Nonsense_Mutation_p.W186*	p.W186*	NM_006579	NP_006570	Q15125	EBP_HUMAN			5	762	+			186			Helical; (Potential).		Q6FGL3|Q6IBI9	Nonsense_Mutation	SNP	ENST00000495186.1	37	c.557G>A	CCDS14300.1	.	.	.	.	.	.	.	.	.	.	G	44	10.963669	0.99495	.	.	ENSG00000147155	ENST00000495186	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.3071	15.8904	0.79293	0.0:0.0:1.0:0.0	.	.	.	.	X	186	.	.	W	+	2	0	EBP	48271653	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.536000	0.90627	2.352000	0.79861	0.525000	0.51046	TGG		0.567	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083372.1	NM_006579		3	23	0	0	0	0.004672	0	3	23				
ERAS	3266	broad.mit.edu	37	X	48687822	48687822	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:48687822G>A	ENST00000338270.1	+	1	540	c.289G>A	c.(289-291)Gca>Aca	p.A97T	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	97					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.A97T(2)		endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GCTGGACACAGCAGGGCAGGC	0.602																																							uc004dky.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	lung(4)|urinary_tract(1)	5						c.(289-291)GCA>ACA		ES cell expressed Ras precursor							93.0	73.0	80.0					X																	48687822		2203	4300	6503	SO:0001583	missense	3266				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chrX:48687822G>A	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"""	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.289G>A	X.37:g.48687822G>A	ENSP00000339136:p.Ala97Thr						p.A97T	NM_181532	NP_853510	Q7Z444	RASE_HUMAN			1	540	+			97			GTP (By similarity).			Missense_Mutation	SNP	ENST00000338270.1	37	c.289G>A	CCDS35246.1	.	.	.	.	.	.	.	.	.	.	g	9.481	1.098129	0.20552	.	.	ENSG00000187682	ENST00000338270	D	0.88741	-2.42	4.84	0.835	0.18886	Small GTP-binding protein domain (1);	0.211901	0.23969	N	0.042781	D	0.87775	0.6262	L	0.54863	1.705	0.41340	D	0.98729	D	0.54964	0.969	P	0.52386	0.697	D	0.84725	0.0742	10	0.72032	D	0.01	.	6.6918	0.23177	0.0898:0.0:0.4849:0.4253	.	97	Q7Z444	RASE_HUMAN	T	97	ENSP00000339136:A97T	ENSP00000339136:A97T	A	+	1	0	ERAS	48572766	1.000000	0.71417	0.018000	0.16275	0.018000	0.09664	3.379000	0.52440	0.144000	0.18951	0.597000	0.82753	GCA		0.602	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132402.1	NM_181532		31	86	0	0	0	0.003271	0	31	86				
PPP1R3F	89801	broad.mit.edu	37	X	49142649	49142649	+	Silent	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:49142649A>T	ENST00000055335.6	+	4	1513	c.1497A>T	c.(1495-1497)ctA>ctT	p.L499L	PPP1R3F_ENST00000495799.1_Silent_p.L153L|PPP1R3F_ENST00000438316.1_Silent_p.L170L|PPP1R3F_ENST00000466508.1_Silent_p.L153L|PPP1R3F_ENST00000376188.1_Silent_p.L153L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	499					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)	p.L499L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TGAGCCGCCTACGGGCTGCTG	0.682																																							uc004dnh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1495-1497)CTA>CTT		protein phosphatase 1, regulatory (inhibitor)							12.0	11.0	11.0					X																	49142649		2174	4253	6427	SO:0001819	synonymous_variant	89801					integral to membrane		g.chrX:49142649A>T		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1497A>T	X.37:g.49142649A>T						PPP1R3F_uc011mnd.1_Silent_p.L170L|PPP1R3F_uc004dni.2_Silent_p.L153L|PPP1R3F_uc004dnj.1_Silent_p.L153L	p.L499L	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN			4	1513	+	Ovarian(276;0.236)		499			Extracellular (Potential).		A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	c.1497A>T	CCDS35254.1																																																																																				0.682	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		3	19	0	0	0	0.004672	0	3	19				
CCNB3	85417	broad.mit.edu	37	X	50053545	50053545	+	Silent	SNP	G	G	A	rs374751350		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:50053545G>A	ENST00000376042.1	+	6	2674	c.2376G>A	c.(2374-2376)gcG>gcA	p.A792A	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.A792A			Q8WWL7	CCNB3_HUMAN	cyclin B3	792					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.A792A(2)		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)					CCAGCATTGCGGAGGGGGAGA	0.517																																							uc004dox.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(2374-2376)GCG>GCA		cyclin B3 isoform 3		G	,	0,3835		0,0,1632,571	30.0	27.0	28.0		2376,	-1.1	0.0	X		28	2,6726		0,2,2426,1872	no	coding-synonymous,intron	CCNB3	NM_033031.2,NM_033670.2	,	0,2,4058,2443	AA,AG,GG,G		0.0297,0.0,0.0189	,	792/1396,	50053545	2,10561	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:50053545G>A	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.2376G>A	X.37:g.50053545G>A						CCNB3_uc004doy.2_Silent_p.A792A|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.A792A	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	2674	+	Ovarian(276;0.236)		792					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.2376G>A	CCDS14331.1																																																																																				0.517	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			4	21	0	0	0	0.009096	0	4	21				
SHROOM4	57477	broad.mit.edu	37	X	50377002	50377002	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:50377002G>T	ENST00000289292.7	-	4	2354	c.2071C>A	c.(2071-2073)Cct>Act	p.P691T	SHROOM4_ENST00000460112.3_Missense_Mutation_p.P575T|SHROOM4_ENST00000376020.2_Missense_Mutation_p.P691T			Q9ULL8	SHRM4_HUMAN	shroom family member 4	691					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.P691T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACTGGCCAGGCCTCTGGCCA	0.582																																							uc004dpe.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(2071-2073)CCT>ACT		shroom family member 4							46.0	38.0	41.0					X																	50377002		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377002G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2071C>A	X.37:g.50377002G>T	ENSP00000289292:p.Pro691Thr					SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.P575T	p.P691T	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	2097	-	Ovarian(276;0.236)		691					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2071C>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	0.473	-0.883588	0.02530	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.19938	2.53;2.53;2.11	6.08	0.218	0.15270	.	0.710078	0.13740	N	0.366063	T	0.14184	0.0343	L	0.56769	1.78	0.09310	N	1	B	0.24132	0.098	B	0.21360	0.034	T	0.39313	-0.9620	10	0.09590	T	0.72	.	2.1552	0.03810	0.3086:0.122:0.4431:0.1263	.	691	Q9ULL8	SHRM4_HUMAN	T	691;691;575	ENSP00000289292:P691T;ENSP00000365188:P691T;ENSP00000421450:P575T	ENSP00000289292:P691T	P	-	1	0	SHROOM4	50393742	0.000000	0.05858	0.001000	0.08648	0.427000	0.31564	-0.135000	0.10420	-0.408000	0.07565	0.600000	0.82982	CCT		0.582	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		22	17	1	0	3.85864e-22	0.00278	6.39991e-22	22	17				
MAGED1	9500	broad.mit.edu	37	X	51641289	51641289	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:51641289G>T	ENST00000375722.1	+	8	1990	c.1738G>T	c.(1738-1740)Gct>Tct	p.A580S	MAGED1_ENST00000326587.7_Splice_Site_p.A580S|MAGED1_ENST00000375695.2_Splice_Site_p.A636S|MAGED1_ENST00000375772.3_Splice_Site_p.A580S|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	580	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.A636S(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TGCCAGTGAGGGTGAGTGGCT	0.532										Multiple Myeloma(10;0.10)																													uc004dpm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1738-1740)GCT>TCT		melanoma antigen family D, 1 isoform b							117.0	107.0	110.0					X																	51641289		2203	4300	6503	SO:0001630	splice_region_variant	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51641289G>T	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1738+1G>T	X.37:g.51641289G>T		Multiple Myeloma(10;0.10)				MAGED1_uc004dpn.2_Missense_Mutation_p.A636S|MAGED1_uc004dpo.2_Missense_Mutation_p.A580S	p.A580S	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN			8	1833	+	Ovarian(276;0.236)		580			MAGE.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1738G>T	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.161780	0.38217	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	3.73	3.73	0.42828	.	0.000000	0.37178	N	0.002214	T	0.10121	0.0248	L	0.28504	0.86	0.44201	D	0.997025	D;D	0.69078	0.996;0.997	D;D	0.79108	0.986;0.992	T	0.04017	-1.0984	10	0.66056	D	0.02	.	7.7801	0.29060	0.0:0.0:0.7519:0.2481	.	636;580	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	S	580;580;580;636	ENSP00000364927:A580S;ENSP00000364874:A580S;ENSP00000325333:A580S;ENSP00000364847:A636S	ENSP00000325333:A580S	A	+	1	0	MAGED1	51658029	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.608000	0.36847	2.121000	0.65114	0.506000	0.49869	GCT		0.532	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332	Missense_Mutation	31	54	1	0	8.88839e-20	0.010818	1.415e-19	31	54				
MAGED1	9500	broad.mit.edu	37	X	51641678	51641678	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:51641678G>T	ENST00000375722.1	+	10	2035	c.1783G>T	c.(1783-1785)Gtg>Ttg	p.V595L	MAGED1_ENST00000326587.7_Splice_Site_p.V595L|MAGED1_ENST00000375695.2_Splice_Site_p.V651L|MAGED1_ENST00000375772.3_Splice_Site_p.V595L|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	595	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.V651L(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TACCTTCAGGGTGAGACATCC	0.443										Multiple Myeloma(10;0.10)																													uc004dpm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1783-1785)GTG>TTG		melanoma antigen family D, 1 isoform b							162.0	145.0	151.0					X																	51641678		2203	4300	6503	SO:0001630	splice_region_variant	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51641678G>T	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1782-1G>T	X.37:g.51641678G>T		Multiple Myeloma(10;0.10)				MAGED1_uc004dpn.2_Missense_Mutation_p.V651L|MAGED1_uc004dpo.2_Missense_Mutation_p.V595L	p.V595L	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN			10	1878	+	Ovarian(276;0.236)		595			MAGE.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1783G>T	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957948	0.34565	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	4.26	4.26	0.50523	.	0.000000	0.35805	N	0.002961	T	0.11495	0.0280	L	0.43152	1.355	0.35367	D	0.788697	D;D	0.57571	0.975;0.98	P;P	0.58721	0.758;0.844	T	0.10776	-1.0615	10	0.44086	T	0.13	.	13.6234	0.62150	0.0:0.0:1.0:0.0	.	651;595	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	L	595;595;595;651	ENSP00000364927:V595L;ENSP00000364874:V595L;ENSP00000325333:V595L;ENSP00000364847:V651L	ENSP00000325333:V595L	V	+	1	0	MAGED1	51658418	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	1.420000	0.34804	2.384000	0.81235	0.429000	0.28392	GTG		0.443	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332	Missense_Mutation	4	41	1	0	0.00909568	0.009096	0.0095258	4	41				
TSPYL2	64061	broad.mit.edu	37	X	53114989	53114989	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:53114989T>G	ENST00000375442.4	+	6	1547	c.1415T>G	c.(1414-1416)aTc>aGc	p.I472S		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	472					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)	p.I472S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						ATAACTGACATCAATGAGAAC	0.463																																							uc004drw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1414-1416)ATC>AGC		TSPY-like 2							228.0	175.0	193.0					X																	53114989		2203	4300	6503	SO:0001583	missense	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53114989T>G	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1415T>G	X.37:g.53114989T>G	ENSP00000364591:p.Ile472Ser					TSPYL2_uc004drv.2_3'UTR|TSPYL2_uc004drx.1_Missense_Mutation_p.I77S	p.I472S	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN			6	1547	+			472					O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	ENST00000375442.4	37	c.1415T>G	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	T	3.194	-0.165095	0.06502	.	.	ENSG00000184205	ENST00000375442	T	0.23950	1.88	2.63	0.0109	0.14085	.	1.368530	0.05510	U	0.560134	T	0.15262	0.0368	L	0.27053	0.805	0.09310	N	1	B;B	0.31256	0.016;0.316	B;B	0.22152	0.038;0.03	T	0.26883	-1.0090	10	0.87932	D	0	-20.2156	2.5444	0.04734	0.0:0.1746:0.2854:0.54	.	112;472	Q59GC7;Q9H2G4	.;TSYL2_HUMAN	S	472	ENSP00000364591:I472S	ENSP00000364591:I472S	I	+	2	0	TSPYL2	53131714	0.055000	0.20627	0.230000	0.23976	0.262000	0.26303	0.507000	0.22675	-0.075000	0.12798	0.231000	0.17811	ATC		0.463	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		37	66	0	0	0	0.005524	0	37	66				
WNK3	65267	broad.mit.edu	37	X	54337611	54337611	+	Silent	SNP	T	T	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:54337611T>C	ENST00000375159.2	-	2	650	c.651A>G	c.(649-651)ttA>ttG	p.L217L	WNK3_ENST00000375169.3_Silent_p.L217L|WNK3_ENST00000354646.2_Silent_p.L217L			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L217L(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCTTTCCTTTTAATATAGATT	0.383																																							uc004dtd.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(649-651)TTA>TTG		WNK lysine deficient protein kinase 3 isoform 2							86.0	77.0	80.0					X																	54337611		2203	4300	6503	SO:0001819	synonymous_variant	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54337611T>C	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.651A>G	X.37:g.54337611T>C						WNK3_uc004dtc.1_Silent_p.L217L	p.L217L	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			3	1090	-			217			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	c.651A>G	CCDS14357.1																																																																																				0.383	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		32	31	0	0	0	0.009535	0	32	31				
TRO	7216	broad.mit.edu	37	X	54950180	54950180	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:54950180C>A	ENST00000173898.7	+	3	1327	c.1215C>A	c.(1213-1215)acC>acA	p.T405T	TRO_ENST00000319167.8_Silent_p.T405T|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Silent_p.T405T|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000484031.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	405					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T405T(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CAACCAGGACCCGGGGCAAAA	0.493																																							uc004dtq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1213-1215)ACC>ACA		trophinin isoform 5							33.0	42.0	39.0					X																	54950180		1900	4116	6016	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54950180C>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1215C>A	X.37:g.54950180C>A						TRO_uc011moj.1_Silent_p.T348T|TRO_uc004dts.2_Silent_p.T405T|TRO_uc004dtr.2_Silent_p.T405T|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	p.T405T	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			3	1322	+			405					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.1215C>A	CCDS43959.1																																																																																				0.493	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		6	11	1	0	0.00116845	0.001168	0.00125871	6	11				
MTMR8	55613	broad.mit.edu	37	X	63490885	63490885	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:63490885A>T	ENST00000374852.3	-	13	1617	c.1550T>A	c.(1549-1551)cTc>cAc	p.L517H	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	517						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)|p.L517H(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AATTTCCAGGAGGCTCTCTAG	0.468																																							uc004dvs.2		NA																	3	Whole gene deletion(2)|Substitution - Missense(1)		ovary(1)|lung(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1549-1551)CTC>CAC		myotubularin related protein 8							84.0	72.0	76.0					X																	63490885		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63490885A>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1550T>A	X.37:g.63490885A>T	ENSP00000363985:p.Leu517His					MTMR8_uc011mou.1_Intron	p.L517H	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			13	1618	-			517			Potential.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.1550T>A	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.772187	0.31411	.	.	ENSG00000102043	ENST00000374852;ENST00000247400	D	0.95001	-3.58	3.75	3.75	0.43078	.	0.185255	0.23727	U	0.045176	D	0.94132	0.8118	L	0.31157	0.91	0.35865	D	0.82777	D	0.76494	0.999	D	0.70935	0.971	D	0.95137	0.8260	10	0.62326	D	0.03	.	10.0077	0.41968	1.0:0.0:0.0:0.0	.	517	Q96EF0	MTMR8_HUMAN	H	517;403	ENSP00000363985:L517H	ENSP00000247400:L403H	L	-	2	0	MTMR8	63407610	0.999000	0.42202	0.005000	0.12908	0.404000	0.30871	5.085000	0.64468	1.314000	0.45095	0.481000	0.45027	CTC		0.468	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		9	44	0	0	0	0.008291	0	9	44				
PJA1	64219	broad.mit.edu	37	X	68381543	68381543	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:68381543G>A	ENST00000361478.1	-	2	1916	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374571.4_Silent_p.L458L|PJA1_ENST00000374583.1_Silent_p.L513L|PJA1_ENST00000374584.3_Silent_p.L325L	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	513					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L325L(1)|p.L513L(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATCCATCAAAGAGGCTCCAAT	0.507																																							uc004dxh.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1537-1539)CTC>CTT		praja 1 isoform a							122.0	103.0	109.0					X																	68381543		2203	4300	6503	SO:0001819	synonymous_variant	64219						zinc ion binding	g.chrX:68381543G>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1539C>T	X.37:g.68381543G>A						PJA1_uc011mpi.1_Silent_p.L231L|PJA1_uc004dxg.2_Silent_p.L325L|PJA1_uc004dxi.2_Silent_p.L458L	p.L513L	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	1825	-			513					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	ENST00000361478.1	37	c.1539C>T	CCDS14393.1																																																																																				0.507	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		26	117	0	0	0	0.00333	0	26	117				
PJA1	64219	broad.mit.edu	37	X	68381584	68381584	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:68381584C>T	ENST00000361478.1	-	2	1875	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374571.4_Missense_Mutation_p.D445N|PJA1_ENST00000374583.1_Missense_Mutation_p.D500N|PJA1_ENST00000374584.3_Missense_Mutation_p.D312N	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	500					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D500N(1)|p.D312N(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ACACTGGAGTCATCTTCAAGG	0.483																																							uc004dxh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1498-1500)GAC>AAC		praja 1 isoform a							150.0	133.0	139.0					X																	68381584		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68381584C>T	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1498G>A	X.37:g.68381584C>T	ENSP00000355014:p.Asp500Asn					PJA1_uc011mpi.1_Missense_Mutation_p.D218N|PJA1_uc004dxg.2_Missense_Mutation_p.D312N|PJA1_uc004dxi.2_Missense_Mutation_p.D445N	p.D500N	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	1784	-			500					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.1498G>A	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	c	16.03	3.007838	0.54361	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	3.24	3.24	0.37175	.	0.000000	0.53938	U	0.000059	T	0.23249	0.0562	M	0.62723	1.935	0.42896	D	0.994216	D;D	0.67145	0.993;0.996	D;D	0.76071	0.984;0.987	T	0.01349	-1.1378	10	0.72032	D	0.01	-11.131	11.7193	0.51672	0.0:1.0:0.0:0.0	.	500;312	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	N	415;312;500;500;445	ENSP00000363712:D312N;ENSP00000363711:D500N;ENSP00000355014:D500N;ENSP00000363699:D445N	ENSP00000355014:D500N	D	-	1	0	PJA1	68298309	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	5.675000	0.68123	1.903000	0.55091	0.417000	0.27973	GAC		0.483	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		70	134	0	0	0	0.00361	0	70	134				
MED12	9968	broad.mit.edu	37	X	70345279	70345279	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:70345279C>A	ENST00000374080.3	+	16	2337	c.2305C>A	c.(2305-2307)Cat>Aat	p.H769N	MED12_ENST00000374102.1_Missense_Mutation_p.H769N|MED12_ENST00000333646.6_Missense_Mutation_p.H769N			Q93074	MED12_HUMAN	mediator complex subunit 12	769					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.H769N(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGATGCCCGCCATGCCATCAA	0.532			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2305-2307)CAT>AAT		mediator complex subunit 12							60.0	61.0	61.0					X																	70345279		2146	4236	6382	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70345279C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2305C>A	X.37:g.70345279C>A	ENSP00000363193:p.His769Asn					MED12_uc011mpq.1_Missense_Mutation_p.H769N|MED12_uc004dyz.2_Missense_Mutation_p.H769N|MED12_uc004dza.2_Missense_Mutation_p.H616N	p.H769N	NM_005120	NP_005111	Q93074	MED12_HUMAN			16	2504	+	Renal(35;0.156)		769					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2305C>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.253910	0.80135	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.46784	0.884;0.826;0.715;0.593	P;B;P;P	0.55999	0.552;0.332;0.789;0.532	T	0.71148	-0.4677	10	0.59425	D	0.04	-16.4154	17.3214	0.87238	0.0:1.0:0.0:0.0	.	769;616;769;769	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	N	769;769;769;769;737	ENSP00000333125:H769N;ENSP00000363215:H769N;ENSP00000363193:H769N;ENSP00000414203:H737N	ENSP00000333125:H769N	H	+	1	0	MED12	70262004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.084000	0.76866	2.271000	0.75665	0.529000	0.55759	CAT		0.532	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		12	32	1	0	5.50884e-06	0.001368	6.37197e-06	12	32				
NLGN3	54413	broad.mit.edu	37	X	70389915	70389915	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:70389915C>A	ENST00000358741.3	+	8	2818	c.2515C>A	c.(2515-2517)Ctg>Atg	p.L839M	NLGN3_ENST00000536169.1_Missense_Mutation_p.L799M|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Missense_Mutation_p.L819M	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	839					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)	p.L839M(1)|p.L819M(1)		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)					CAGTACCGGGCTGCCCCACTC	0.572																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2455-2457)CTG>ATG		neuroligin 3							70.0	53.0	59.0					X																	70389915		2203	4300	6503	SO:0001583	missense	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:70389915C>A	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.2515C>A	X.37:g.70389915C>A	ENSP00000351591:p.Leu839Met					NLGN3_uc004dzc.2_Missense_Mutation_p.L702M|NLGN3_uc011mps.1_Missense_Mutation_p.L799M|NLGN3_uc004dze.2_Missense_Mutation_p.L637M	p.L819M	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN			7	2759	+	Renal(35;0.156)		839			Cytoplasmic (Potential).		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.2455C>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642635	0.47153	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	T;T;T	0.71461	-0.52;-0.56;-0.57	5.25	4.31	0.51392	.	0.071355	0.56097	D	0.000021	T	0.81446	0.4824	M	0.70275	2.135	0.45403	D	0.998386	D;D;D	0.62365	0.966;0.991;0.989	D;D;D	0.68621	0.91;0.937;0.959	D	0.83516	0.0083	10	0.87932	D	0	.	13.1025	0.59228	0.0:0.9061:0.0:0.0939	.	799;839;819	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	M	799;819;839	ENSP00000445298:L799M;ENSP00000363163:L819M;ENSP00000351591:L839M	ENSP00000351591:L839M	L	+	1	2	NLGN3	70306640	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.406000	0.44557	2.462000	0.83206	0.525000	0.51046	CTG		0.572	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		7	24	1	0	0.00198382	0.001984	0.00211889	7	24				
ZCCHC5	203430	broad.mit.edu	37	X	77912725	77912725	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:77912725G>T	ENST00000321110.1	-	2	1488	c.1193C>A	c.(1192-1194)cCc>cAc	p.P398H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	398							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P398H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TAATGGATTGGGATCAGGCTT	0.507																																							uc004edc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1192-1194)CCC>CAC		zinc finger, CCHC domain containing 5							116.0	102.0	106.0					X																	77912725		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912725G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1193C>A	X.37:g.77912725G>T	ENSP00000316794:p.Pro398His						p.P398H	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	1489	-			398					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1193C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	8.181	0.793851	0.16327	.	.	ENSG00000179300	ENST00000321110	T	0.18016	2.24	2.95	0.145	0.14829	.	1.331120	0.06129	U	0.670289	T	0.18341	0.0440	N	0.22421	0.69	0.09310	N	1	D	0.67145	0.996	P	0.54372	0.75	T	0.20874	-1.0262	10	0.48119	T	0.1	.	5.1611	0.15062	0.4581:0.0:0.5419:0.0	.	398	Q8N8U3	ZCHC5_HUMAN	H	398	ENSP00000316794:P398H	ENSP00000316794:P398H	P	-	2	0	ZCCHC5	77799381	0.016000	0.18221	0.018000	0.16275	0.385000	0.30292	-0.020000	0.12525	-0.095000	0.12351	0.513000	0.50165	CCC		0.507	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		71	67	1	0	6.5469e-37	0.00361	1.20829e-36	71	67				
ITM2A	9452	broad.mit.edu	37	X	78616925	78616925	+	Missense_Mutation	SNP	C	C	T	rs374161293		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:78616925C>T	ENST00000373298.2	-	5	747	c.604G>A	c.(604-606)Gtg>Atg	p.V202M	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Missense_Mutation_p.V158M	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	202	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)		p.V202M(1)		breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATTTCCTCCACAGCAACTAGG	0.398																																							uc004edh.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(604-606)GTG>ATG		integral membrane protein 2A		C	MET/VAL,MET/VAL	0,3835		0,0,1632,571	84.0	71.0	75.0		472,604	2.7	1.0	X		75	1,6724		0,1,2426,1871	no	missense,missense	ITM2A	NM_001171581.1,NM_004867.4	21,21	0,1,4058,2442	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	158/220,202/264	78616925	1,10559	2203	4298	6501	SO:0001583	missense	9452					integral to membrane	protein binding	g.chrX:78616925C>T	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.604G>A	X.37:g.78616925C>T	ENSP00000362395:p.Val202Met					ITM2A_uc011mqr.1_Missense_Mutation_p.V158M	p.V202M	NM_004867	NP_004858	O43736	ITM2A_HUMAN			5	939	-			202			BRICHOS.		B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	c.604G>A	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962208	0.53400	0.0	1.49E-4	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.21191	2.02;2.02	4.5	2.69	0.31865	BRICHOS (2);	0.238952	0.34338	N	0.004043	T	0.18800	0.0451	N	0.22421	0.69	0.29039	N	0.885246	B;D	0.62365	0.157;0.991	B;P	0.55011	0.105;0.766	T	0.05784	-1.0864	10	0.59425	D	0.04	-9.7133	2.8154	0.05454	0.2096:0.4834:0.0:0.3069	.	158;202	B4E062;O43736	.;ITM2A_HUMAN	M	202;158	ENSP00000362395:V202M;ENSP00000415533:V158M	ENSP00000362395:V202M	V	-	1	0	ITM2A	78503581	0.998000	0.40836	0.954000	0.39281	0.862000	0.49288	0.894000	0.28350	0.821000	0.34540	0.513000	0.50165	GTG		0.398	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		5	60	0	0	0	0.001168	0	5	60				
HDX	139324	broad.mit.edu	37	X	83599332	83599332	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:83599332G>C	ENST00000297977.5	-	6	1697	c.1586C>G	c.(1585-1587)gCt>gGt	p.A529G	HDX_ENST00000506585.2_Missense_Mutation_p.A471G|HDX_ENST00000373177.2_Missense_Mutation_p.A529G	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	529						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A529G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCAGGCCCAGCTTCCTCTCC	0.453																																					Pancreas(53;231 1169 36156 43751 51139)	Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1585-1587)GCT>GGT		highly divergent homeobox							105.0	95.0	98.0					X																	83599332		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83599332G>C	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1586C>G	X.37:g.83599332G>C	ENSP00000297977:p.Ala529Gly					HDX_uc011mqv.1_Missense_Mutation_p.A529G|HDX_uc004eel.1_Missense_Mutation_p.A471G	p.A529G	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			6	1695	-			529					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1586C>G	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959787	0.34565	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.33216	1.43;1.42;1.43	5.46	3.63	0.41609	.	0.473620	0.23981	N	0.042668	T	0.22126	0.0533	N	0.24115	0.695	0.26055	N	0.981436	B	0.06786	0.001	B	0.04013	0.001	T	0.10042	-1.0647	10	0.30078	T	0.28	-22.8477	15.018	0.71600	0.0:0.2627:0.7373:0.0	.	529	Q7Z353	HDX_HUMAN	G	529;471;529	ENSP00000297977:A529G;ENSP00000362272:A471G;ENSP00000423670:A529G	ENSP00000297977:A529G	A	-	2	0	HDX	83485988	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	2.864000	0.48404	0.464000	0.27142	0.597000	0.82753	GCT		0.453	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		22	83	0	0	0	0.010504	0	22	83				
NAP1L3	4675	broad.mit.edu	37	X	92927894	92927894	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:92927894G>T	ENST00000373079.3	-	1	673	c.410C>A	c.(409-411)gCt>gAt	p.A137D	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.A130D|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	137					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.A137D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GTTGAGTTCAGCATATTTTCT	0.388																																							uc004efq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(409-411)GCT>GAT		nucleosome assembly protein 1-like 3							43.0	38.0	40.0					X																	92927894		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927894G>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.410C>A	X.37:g.92927894G>T	ENSP00000362171:p.Ala137Asp					FAM133A_uc004efr.1_5'Flank	p.A137D	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	715	-			137					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.410C>A	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677088	0.68042	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.25749	1.78	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	L	0.51853	1.615	0.43874	D	0.996482	D	0.89917	1.0	D	0.91635	0.999	T	0.14035	-1.0487	10	0.36615	T	0.2	-8.5414	12.9908	0.58618	0.0:0.0:1.0:0.0	.	137	Q99457	NP1L3_HUMAN	D	137;130	ENSP00000362171:A137D	ENSP00000362171:A137D	A	-	2	0	NAP1L3	92814550	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	4.040000	0.57333	2.225000	0.72522	0.529000	0.55759	GCT		0.388	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		25	47	1	0	8.24728e-16	0.004656	1.22008e-15	25	47				
PCDH19	57526	broad.mit.edu	37	X	99657617	99657617	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:99657617G>T	ENST00000373034.4	-	3	4196	c.2521C>A	c.(2521-2523)Cgc>Agc	p.R841S	PCDH19_ENST00000255531.7_Missense_Mutation_p.R794S|PCDH19_ENST00000420881.2_Missense_Mutation_p.R794S	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	841					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R841S(1)|p.R295S(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGGTGTTGCGGGTATTCTGG	0.567																																							uc010nmz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(2521-2523)CGC>AGC		protocadherin 19 isoform b							136.0	124.0	128.0					X																	99657617		2040	4176	6216	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99657617G>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2521C>A	X.37:g.99657617G>T	ENSP00000362125:p.Arg841Ser					PCDH19_uc004efw.3_Missense_Mutation_p.R794S|PCDH19_uc004efx.3_Missense_Mutation_p.R794S	p.R841S	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			3	4197	-			841			Cytoplasmic (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.2521C>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	g	8.896	0.955062	0.18507	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.55234	0.53;0.57;0.53	5.64	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	N	0.19112	0.55	0.58432	D	0.99999	D;B;B	0.69078	0.997;0.228;0.146	D;B;B	0.76071	0.987;0.146;0.069	T	0.44081	-0.9351	10	0.02654	T	1	.	13.8237	0.63338	0.0:0.0:0.7381:0.2618	.	841;794;794	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	S	794;841;794	ENSP00000400327:R794S;ENSP00000362125:R841S;ENSP00000255531:R794S	ENSP00000255531:R794S	R	-	1	0	PCDH19	99544273	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.884000	0.39668	2.363000	0.80096	0.594000	0.82650	CGC		0.567	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		21	34	1	0	9.95505e-16	0.002299	1.46409e-15	21	34				
BTK	695	broad.mit.edu	37	X	100626677	100626677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:100626677C>A	ENST00000308731.7	-	4	416	c.253G>T	c.(253-255)Gag>Tag	p.E85*	BTK_ENST00000464567.1_5'Flank|BTK_ENST00000372880.1_Nonsense_Mutation_p.E85*	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	85	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.E85*(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCACTGGACTCTTCACCTCTT	0.393									Agammaglobulinemia, X-linked																														uc004ehg.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(253-255)GAG>TAG		Bruton agammaglobulinemia tyrosine kinase							115.0	111.0	112.0					X																	100626677		2203	4300	6503	SO:0001587	stop_gained	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100626677C>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.253G>T	X.37:g.100626677C>A	ENSP00000308176:p.Glu85*					BTK_uc010nnn.2_Nonsense_Mutation_p.E85*|BTK_uc010nno.2_Nonsense_Mutation_p.E119*|BTK_uc004ehi.2_Nonsense_Mutation_p.E85*	p.E85*	NM_000061	NP_000052	Q06187	BTK_HUMAN			4	446	-			85			PH.		B2RAW1|Q32ML5	Nonsense_Mutation	SNP	ENST00000308731.7	37	c.253G>T	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	40	8.148597	0.98678	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	.	.	.	5.88	5.88	0.94601	.	0.122341	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.1532	0.93499	0.0:1.0:0.0:0.0	.	.	.	.	X	85	.	ENSP00000308176:E85X	E	-	1	0	BTK	100513333	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.210000	0.65214	2.474000	0.83562	0.600000	0.82982	GAG		0.393	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		9	149	1	0	2.74318e-10	0.006214	3.61754e-10	9	149				
ARMCX2	9823	broad.mit.edu	37	X	100911043	100911043	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:100911043G>T	ENST00000328766.5	-	5	1985	c.1532C>A	c.(1531-1533)gCa>gAa	p.A511E	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A511E|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A511E	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	511						integral component of membrane (GO:0016021)		p.A511E(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GAAAAAGTTTGCAATGGAATT	0.368																																							uc004eid.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1531-1533)GCA>GAA		ALEX2 protein							114.0	114.0	114.0					X																	100911043		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911043G>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1532C>A	X.37:g.100911043G>T	ENSP00000331662:p.Ala511Glu					ARMCX2_uc004eie.3_Missense_Mutation_p.A511E|ARMCX2_uc004eif.3_Missense_Mutation_p.A511E|ARMCX2_uc004eig.3_Missense_Mutation_p.A511E|ARMCX2_uc010nnt.2_Missense_Mutation_p.A511E	p.A511E	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	1887	-			511			ARM 3.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.1532C>A	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797334	0.50208	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.47177	0.85;0.85;0.85	4.1	4.1	0.47936	Armadillo-like helical (1);Armadillo-type fold (1);	0.248923	0.40640	N	0.001043	T	0.47985	0.1475	N	0.19112	0.55	0.32880	D	0.510468	D	0.61697	0.99	P	0.61940	0.896	T	0.59553	-0.7433	10	0.62326	D	0.03	-10.2849	10.7139	0.46000	0.0:0.0:1.0:0.0	.	511	Q7L311	ARMX2_HUMAN	E	511	ENSP00000331662:A511E;ENSP00000328631:A511E;ENSP00000349281:A511E	ENSP00000331662:A511E	A	-	2	0	ARMCX2	100797699	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.730000	0.62015	2.292000	0.77174	0.422000	0.28245	GCA		0.368	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		118	187	1	0	3.08405e-71	0.00361	6.04763e-71	118	187				
MORF4L2	9643	broad.mit.edu	37	X	102931676	102931676	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:102931676C>A	ENST00000441076.2	-	4	584	c.280G>T	c.(280-282)Gca>Tca	p.A94S	MORF4L2_ENST00000360458.1_Missense_Mutation_p.A94S|MORF4L2_ENST00000433176.2_Missense_Mutation_p.A94S|MORF4L2_ENST00000423833.2_Missense_Mutation_p.A94S|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.A94S|MORF4L2_ENST00000422154.2_Missense_Mutation_p.A94S	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	94					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A94S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GGCTGAGGTGCTTCGCTGGTA	0.537																																							uc004ekw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(280-282)GCA>TCA		mortality factor 4 like 2							70.0	69.0	69.0					X																	102931676		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931676C>A	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.280G>T	X.37:g.102931676C>A	ENSP00000391969:p.Ala94Ser					MORF4L2_uc004ela.2_Missense_Mutation_p.A94S|MORF4L2_uc004ekx.2_Missense_Mutation_p.A94S|MORF4L2_uc004elb.2_Missense_Mutation_p.A94S|MORF4L2_uc004eky.2_Missense_Mutation_p.A94S|MORF4L2_uc010nos.2_Missense_Mutation_p.A94S|MORF4L2_uc004ekz.2_Missense_Mutation_p.A94S|MORF4L2_uc011mry.1_Missense_Mutation_p.A94S|MORF4L2_uc011mrz.1_Missense_Mutation_p.A94S|MORF4L2_uc004elc.2_Missense_Mutation_p.A94S|MORF4L2_uc004elf.2_Missense_Mutation_p.A94S|MORF4L2_uc004ele.2_Missense_Mutation_p.A94S|MORF4L2_uc011msa.1_Missense_Mutation_p.A94S|MORF4L2_uc011msb.1_Missense_Mutation_p.A94S|MORF4L2_uc011msc.1_Missense_Mutation_p.A94S|MORF4L2_uc011msd.1_Missense_Mutation_p.A94S|MORF4L2_uc004eld.2_Missense_Mutation_p.A94S	p.A94S	NM_012286	NP_036418	Q15014	MO4L2_HUMAN			4	1512	-			94					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.280G>T	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508256	0.27036	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	4.38	4.38	0.52667	.	0.540030	0.20230	N	0.096483	T	0.14442	0.0349	N	0.11064	0.09	0.20926	N	0.99983	B	0.20368	0.044	B	0.29524	0.103	T	0.33523	-0.9865	10	0.07325	T	0.83	-20.9203	7.2734	0.26271	0.0:0.883:0.0:0.117	.	94	Q15014	MO4L2_HUMAN	S	94;94;94;94;76;94;94;94;94;94	ENSP00000353643:A94S;ENSP00000415476:A94S;ENSP00000394417:A94S;ENSP00000410532:A94S;ENSP00000391969:A94S;ENSP00000416120:A94S	ENSP00000353643:A94S	A	-	1	0	MORF4L2	102818332	0.997000	0.39634	0.983000	0.44433	0.997000	0.91878	1.136000	0.31467	2.429000	0.82318	0.600000	0.82982	GCA		0.537	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		11	174	1	0	3.86212e-05	0.008291	4.37978e-05	11	174				
ESX1	80712	broad.mit.edu	37	X	103495020	103495020	+	Silent	SNP	C	C	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:103495020C>G	ENST00000372588.4	-	4	1193	c.1110G>C	c.(1108-1110)ccG>ccC	p.P370P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	370	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)	p.P370P(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGCCATGGGCGGCCCGGGTG	0.697																																					Pancreas(200;1705 2227 25194 28471 45274)	Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1108-1110)CCG>CCC		extraembryonic, spermatogenesis, homeobox							24.0	23.0	23.0					X																	103495020		2203	4300	6503	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495020C>G	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1110G>C	X.37:g.103495020C>G							p.P370P	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			4	1168	-			370			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.|15.		B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.1110G>C	CCDS14516.1																																																																																				0.697	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		14	33	0	0	0	0.001855	0	14	33				
CLDN2	9075	broad.mit.edu	37	X	106171518	106171518	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:106171518C>A	ENST00000541806.1	+	2	579	c.60C>A	c.(58-60)ggC>ggA	p.G20G	CLDN2_ENST00000540876.1_Silent_p.G20G|CLDN2_ENST00000336803.1_Silent_p.G20G	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	20					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.G20G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GGCTTTTGGGCACACTGGTTG	0.557																																							uc004emq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(58-60)GGC>GGA		claudin 2							84.0	71.0	75.0					X																	106171518		2203	4300	6503	SO:0001819	synonymous_variant	9075				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171518C>A	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.60C>A	X.37:g.106171518C>A						MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Silent_p.G20G	p.G20G	NM_020384	NP_065117	P57739	CLD2_HUMAN			2	579	+			20			Helical; (Potential).		B2R6B9	Silent	SNP	ENST00000541806.1	37	c.60C>A	CCDS14524.1																																																																																				0.557	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			42	65	1	0	4.44401e-20	0.010771	7.10476e-20	42	65				
COL4A6	1288	broad.mit.edu	37	X	107402768	107402768	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:107402768A>T	ENST00000372216.4	-	44	4839	c.4739T>A	c.(4738-4740)gTg>gAg	p.V1580E	COL4A6_ENST00000418180.1_Missense_Mutation_p.V114E|COL4A6_ENST00000334504.7_Missense_Mutation_p.V1579E|COL4A6_ENST00000538570.1_Missense_Mutation_p.V1522E|COL4A6_ENST00000394872.2_Missense_Mutation_p.V1580E|COL4A6_ENST00000545689.1_Missense_Mutation_p.V1555E	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1580	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.V1579E(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTGGCTGTGCACAGCAATGGC	0.612									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(4738-4740)GTG>GAG		type IV alpha 6 collagen isoform A precursor							85.0	70.0	75.0					X																	107402768		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107402768A>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4739T>A	X.37:g.107402768A>T	ENSP00000361290:p.Val1580Glu					COL4A6_uc004env.3_Missense_Mutation_p.V1579E|COL4A6_uc011msn.1_Missense_Mutation_p.V1555E|COL4A6_uc010npk.2_Missense_Mutation_p.V1522E|COL4A6_uc011msm.1_Missense_Mutation_p.V114E|COL4A6_uc010npj.2_Missense_Mutation_p.V59E	p.V1580E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			44	4842	-			1580			Collagen IV NC1.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.4739T>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506218	0.64410	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	4.88	4.88	0.63580	C-type lectin fold (1);	0.000000	0.36519	N	0.002556	D	0.95098	0.8412	H	0.94222	3.51	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.997;0.999;1.0;0.999	D	0.96321	0.9236	10	0.87932	D	0	.	14.1845	0.65595	1.0:0.0:0.0:0.0	.	1555;114;1522;1580;1579	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	E	114;1580;1579;1580;1567;1555;1522	ENSP00000406002:V114E;ENSP00000361290:V1580E;ENSP00000334733:V1579E;ENSP00000378340:V1580E;ENSP00000443707:V1555E;ENSP00000445236:V1522E	ENSP00000334733:V1579E	V	-	2	0	COL4A6	107289424	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.243000	0.95416	1.885000	0.54596	0.430000	0.28490	GTG		0.612	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			35	59	0	0	0	0.00874	0	35	59				
COL4A5	1287	broad.mit.edu	37	X	107807133	107807133	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:107807133C>A	ENST00000361603.2	+	4	497	c.253C>A	c.(253-255)Cca>Aca	p.P85T	COL4A5_ENST00000328300.6_Missense_Mutation_p.P85T	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	85	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.P85T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AATTCCAGGGCCACCAGGACC	0.328									Alport syndrome with Diffuse Leiomyomatosis																														uc004enz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(253-255)CCA>ACA		type IV collagen alpha 5 isoform 2 precursor							66.0	65.0	65.0					X																	107807133		2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107807133C>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.253C>A	X.37:g.107807133C>A	ENSP00000354505:p.Pro85Thr					COL4A5_uc011mso.1_Missense_Mutation_p.P85T	p.P85T	NM_033380	NP_203699	P29400	CO4A5_HUMAN			4	455	+			85			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.253C>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698970	0.30142	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.96651	-4.08;-4.08	5.67	4.8	0.61643	.	0.129886	0.52532	D	0.000072	D	0.95101	0.8413	M	0.81614	2.55	0.34740	D	0.730698	P;P	0.38300	0.626;0.626	B;B	0.40782	0.34;0.34	D	0.94041	0.7309	10	0.13108	T	0.6	.	9.2301	0.37432	0.0:0.8276:0.0:0.1724	.	85;85	E7EVY4;P29400	.;CO4A5_HUMAN	T	85	ENSP00000331902:P85T;ENSP00000354505:P85T	ENSP00000331902:P85T	P	+	1	0	COL4A5	107693789	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	3.208000	0.51114	1.149000	0.42402	0.600000	0.82982	CCA		0.328	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			13	29	1	0	1.15088e-07	0.004007	1.39776e-07	13	29				
COL4A5	1287	broad.mit.edu	37	X	107935990	107935990	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:107935990G>T	ENST00000361603.2	+	48	4767	c.4523G>T	c.(4522-4524)aGc>aTc	p.S1508I	COL4A5_ENST00000328300.6_Missense_Mutation_p.S1514I	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1508	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.S1508I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACGGCTGGCAGCTGCCTTCGT	0.408									Alport syndrome with Diffuse Leiomyomatosis																														uc004enz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(4540-4542)AGC>ATC		type IV collagen alpha 5 isoform 2 precursor							115.0	90.0	99.0					X																	107935990		2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107935990G>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4523G>T	X.37:g.107935990G>T	ENSP00000354505:p.Ser1508Ile					COL4A5_uc011mso.1_Missense_Mutation_p.S1511I|COL4A5_uc011msp.1_Missense_Mutation_p.S190I	p.S1514I	NM_033380	NP_203699	P29400	CO4A5_HUMAN			49	4743	+			1508			Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4541G>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309731	0.81247	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.92299	-3.01;-3.01	5.82	5.82	0.92795	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99399	1.0927	10	0.87932	D	0	.	19.0941	0.93242	0.0:0.0:1.0:0.0	.	1511;1508	E7EVY4;P29400	.;CO4A5_HUMAN	I	1514;1508;1514	ENSP00000331902:S1514I;ENSP00000354505:S1508I	ENSP00000331902:S1514I	S	+	2	0	COL4A5	107822646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.876000	0.87215	2.459000	0.83118	0.594000	0.82650	AGC		0.408	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			14	85	1	0	1.3612e-06	0.003163	1.60154e-06	14	85				
IRS4	8471	broad.mit.edu	37	X	107979482	107979482	+	Silent	SNP	G	G	T	rs367737899		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:107979482G>T	ENST00000372129.2	-	1	169	c.93C>A	c.(91-93)acC>acA	p.T31T	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	31					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)	p.T31T(1)		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						GAAGCGGGGTGGTCACCACTG	0.642																																							uc004eoc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(91-93)ACC>ACA		insulin receptor substrate 4							28.0	30.0	29.0					X																	107979482		2203	4296	6499	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979482G>T	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.93C>A	X.37:g.107979482G>T							p.T31T	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	126	-			31						Silent	SNP	ENST00000372129.2	37	c.93C>A	CCDS14544.1																																																																																				0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		20	54	1	0	2.4624e-09	0.008871	3.15337e-09	20	54				
TRPC5	7224	broad.mit.edu	37	X	111025234	111025234	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:111025234A>G	ENST00000262839.2	-	8	2947	c.2029T>C	c.(2029-2031)Ttc>Ctc	p.F677L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	677					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.F677L(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTGTTGTTGAACCAGTTACCA	0.448																																							uc004epl.1		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(2029-2031)TTC>CTC		transient receptor potential cation channel,							141.0	134.0	136.0					X																	111025234		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111025234A>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2029T>C	X.37:g.111025234A>G	ENSP00000262839:p.Phe677Leu					TRPC5_uc004epm.1_Missense_Mutation_p.F677L	p.F677L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			8	2948	-			677			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2029T>C	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	A	6.069	0.381048	0.11466	.	.	ENSG00000072315	ENST00000262839	T	0.80214	-1.35	5.92	4.69	0.59074	.	0.268216	0.37669	N	0.001993	T	0.42630	0.1211	N	0.00483	-1.445	0.35973	D	0.835487	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.53251	-0.8465	10	0.05833	T	0.94	-13.3483	5.315	0.15850	0.5364:0.2512:0.0:0.2123	.	678;677	Q59G51;Q9UL62	.;TRPC5_HUMAN	L	677	ENSP00000262839:F677L	ENSP00000262839:F677L	F	-	1	0	TRPC5	110911890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.219000	0.32479	1.997000	0.58415	0.481000	0.45027	TTC		0.448	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		15	237	0	0	0	0.007413	0	15	237				
PLS3	5358	broad.mit.edu	37	X	114856611	114856611	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:114856611G>C	ENST00000420625.2	+	3	261	c.127G>C	c.(127-129)Gaa>Caa	p.E43Q	PLS3_ENST00000537301.1_Missense_Mutation_p.E21Q|PLS3_ENST00000355899.3_Missense_Mutation_p.E43Q|PLS3_ENST00000539310.1_5'UTR|PLS3_ENST00000289290.3_5'UTR	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	43	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.E43Q(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCTCTTCAAGGAAGCTAATAT	0.348																																					Colon(160;1047 1864 8490 12969 29601)	Colon(160;1047 1864 8490 12969 29601)	uc004eqd.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(127-129)GAA>CAA		plastin 3							100.0	97.0	98.0					X																	114856611		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114856611G>C	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.127G>C	X.37:g.114856611G>C	ENSP00000398945:p.Glu43Gln					PLS3_uc010nqf.2_RNA|PLS3_uc010nqg.2_Missense_Mutation_p.E43Q|PLS3_uc011mtf.1_Missense_Mutation_p.E21Q|PLS3_uc004eqe.2_Missense_Mutation_p.E43Q|PLS3_uc011mtg.1_Missense_Mutation_p.E43Q|PLS3_uc011mth.1_5'UTR	p.E43Q	NM_005032	NP_005023	P13797	PLST_HUMAN			3	517	+			43			EF-hand 1.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.127G>C	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.310975	0.40895	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000420625	T;T;T	0.71222	-0.55;-0.55;-0.55	5.38	5.38	0.77491	EF-hand-like domain (1);	0.188229	0.56097	D	0.000036	T	0.69415	0.3108	L	0.46567	1.45	0.80722	D	1	P;B;B	0.45044	0.849;0.057;0.122	P;B;B	0.47346	0.544;0.068;0.068	T	0.65340	-0.6192	10	0.15952	T	0.53	-21.252	16.5784	0.84707	0.0:0.0:1.0:0.0	.	43;21;43	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	Q	43;21;43	ENSP00000348163:E43Q;ENSP00000445105:E21Q;ENSP00000398945:E43Q	ENSP00000348163:E43Q	E	+	1	0	PLS3	114762867	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.939000	0.87685	2.222000	0.72286	0.544000	0.68410	GAA		0.348	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			56	93	0	0	0	0.00361	0	56	93				
UPF3B	65109	broad.mit.edu	37	X	118979170	118979170	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:118979170T>A	ENST00000276201.2	-	4	529	c.460A>T	c.(460-462)Atc>Ttc	p.I154F	UPF3B_ENST00000345865.2_Missense_Mutation_p.I154F|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	154	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I154F(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CCATCATCGATAGTCCCGACT	0.333																																							uc004erz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(460-462)ATC>TTC		UPF3 regulator of nonsense transcripts homolog B							140.0	127.0	131.0					X																	118979170		2203	4300	6503	SO:0001583	missense	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118979170T>A	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.460A>T	X.37:g.118979170T>A	ENSP00000276201:p.Ile154Phe					UPF3B_uc004esa.1_Missense_Mutation_p.I154F	p.I154F	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			4	537	-			154			Sufficient for association with EJC core.|Necessary for interaction with UPF2.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.460A>T	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.080900	0.55753	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.74002	-0.8;-0.8	5.12	5.12	0.69794	Regulator of nonsense-mediated decay, UPF3 (1);	0.000000	0.85682	D	0.000000	D	0.89715	0.6795	H	0.95645	3.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.994;0.997	D	0.92335	0.5877	10	0.87932	D	0	.	13.1091	0.59263	0.0:0.0:0.0:1.0	.	154;154	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	F	154	ENSP00000276201:I154F;ENSP00000245418:I154F	ENSP00000276201:I154F	I	-	1	0	UPF3B	118863198	1.000000	0.71417	0.999000	0.59377	0.326000	0.28443	7.624000	0.83124	1.688000	0.51068	0.481000	0.45027	ATC		0.333	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			24	152	0	0	0	0.004656	0	24	152				
RNF113A	7737	broad.mit.edu	37	X	119004598	119004598	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:119004598C>A	ENST00000371442.2	-	1	1193	c.979G>T	c.(979-981)Ggt>Tgt	p.G327C	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	327							zinc ion binding (GO:0008270)	p.G327C(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TCGGAAGCACCACCCTCTCCT	0.443																																							uc004esb.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(979-981)GGT>TGT		ring finger protein 113A							135.0	139.0	137.0					X																	119004598		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119004598C>A	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.979G>T	X.37:g.119004598C>A	ENSP00000360497:p.Gly327Cys					NDUFA1_uc004esc.3_5'Flank	p.G327C	NM_006978	NP_008909	O15541	R113A_HUMAN			1	1194	-			327					B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.979G>T	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285876	0.23478	.	.	ENSG00000125352	ENST00000371442	T	0.32023	1.47	5.54	4.69	0.59074	.	0.420072	0.25416	N	0.030830	T	0.26011	0.0634	L	0.54323	1.7	0.09310	N	1	P	0.50710	0.938	B	0.40101	0.319	T	0.28964	-1.0027	10	0.52906	T	0.07	-14.2333	6.5011	0.22170	0.1783:0.7282:0.0:0.0936	.	327	O15541	R113A_HUMAN	C	327	ENSP00000360497:G327C	ENSP00000360497:G327C	G	-	1	0	RNF113A	118888626	0.002000	0.14202	0.001000	0.08648	0.220000	0.24768	1.321000	0.33678	1.119000	0.41883	0.600000	0.82982	GGT		0.443	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		117	217	1	0	2.78246e-50	0.00361	5.33127e-50	117	217				
CUL4B	8450	broad.mit.edu	37	X	119694176	119694176	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:119694176G>T	ENST00000404115.3	-	3	773	c.372C>A	c.(370-372)acC>acA	p.T124T	CUL4B_ENST00000371322.5_Silent_p.T106T|CUL4B_ENST00000336592.6_Silent_p.T111T	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	124	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T106T(1)|p.T124T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAACTCCAGGGTGTCTTCAA	0.537																																							uc004esw.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(370-372)ACC>ACA		cullin 4B isoform 1							76.0	66.0	69.0					X																	119694176		2203	4300	6503	SO:0001819	synonymous_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694176G>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.372C>A	X.37:g.119694176G>T						CUL4B_uc004esv.2_Silent_p.T106T	p.T124T	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			3	809	-			124			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	c.372C>A	CCDS35379.1																																																																																				0.537	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		17	77	1	0	3.51602e-12	0.008871	4.84015e-12	17	77				
THOC2	57187	broad.mit.edu	37	X	122840794	122840794	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:122840794G>T	ENST00000245838.8	-	3	167	c.136C>A	c.(136-138)Cag>Aag	p.Q46K	THOC2_ENST00000355725.4_Missense_Mutation_p.Q46K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	46					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.Q46K(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGAGCTTGCTGGAAATCTGTT	0.299																																							uc004etu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(136-138)CAG>AAG		THO complex 2							52.0	42.0	45.0					X																	122840794		1804	4029	5833	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122840794G>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.136C>A	X.37:g.122840794G>T	ENSP00000245838:p.Gln46Lys					THOC2_uc011muh.1_5'UTR|THOC2_uc011mui.1_5'UTR	p.Q46K	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			3	168	-			46					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.136C>A	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467595	0.43839	.	.	ENSG00000125676	ENST00000245838;ENST00000355725	.	.	.	5.48	4.62	0.57501	.	.	.	.	.	T	0.43033	0.1229	L	0.27053	0.805	0.46981	D	0.999274	B	0.24721	0.11	B	0.19148	0.024	T	0.20505	-1.0273	8	0.25106	T	0.35	-4.7585	13.196	0.59738	0.0799:0.0:0.9201:0.0	.	46	Q8NI27	THOC2_HUMAN	K	46	.	ENSP00000245838:Q46K	Q	-	1	0	THOC2	122668475	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	6.968000	0.76086	1.080000	0.41073	-0.322000	0.08575	CAG		0.299	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			6	22	1	0	0.00116845	0.001168	0.00125871	6	22				
DCAF12L1	139170	broad.mit.edu	37	X	125686305	125686305	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:125686305G>C	ENST00000371126.1	-	1	529	c.287C>G	c.(286-288)aCg>aGg	p.T96R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	96								p.T96R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTTGTTGACCGTGCCCAGCTC	0.657																																							uc004eul.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(286-288)ACG>AGG		DDB1 and CUL4 associated factor 12-like 1							92.0	71.0	78.0					X																	125686305		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125686305G>C	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.287C>G	X.37:g.125686305G>C	ENSP00000360167:p.Thr96Arg						p.T96R	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	538	-			96					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.287C>G	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	g	9.564	1.119146	0.20877	.	.	ENSG00000198889	ENST00000371126	T	0.63096	-0.02	3.54	3.54	0.40534	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.66446	0.2790	L	0.38175	1.15	0.21386	N	0.999707	D	0.69078	0.997	D	0.63033	0.91	T	0.55192	-0.8179	9	0.30854	T	0.27	.	12.2392	0.54532	0.0:0.0:1.0:0.0	.	96	Q5VU92	DC121_HUMAN	R	96	ENSP00000360167:T96R	ENSP00000360167:T96R	T	-	2	0	DCAF12L1	125513986	1.000000	0.71417	0.267000	0.24556	0.545000	0.35147	1.965000	0.40471	2.036000	0.60181	0.498000	0.49722	ACG		0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		22	58	0	0	0	0.002299	0	22	58				
OCRL	4952	broad.mit.edu	37	X	128699806	128699806	+	Silent	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:128699806G>A	ENST00000371113.4	+	13	1467	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E	OCRL_ENST00000357121.5_Silent_p.E434E	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	434	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.E434E(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ATGCCAATGAGGTGAAAAGTC	0.358																																							uc004euq.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.(1300-1302)GAG>GAA		phosphatidylinositol polyphosphate 5-phosphatase							120.0	120.0	120.0					X																	128699806		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128699806G>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1302G>A	X.37:g.128699806G>A						OCRL_uc004eur.2_Silent_p.E434E	p.E434E	NM_000276	NP_000267	Q01968	OCRL_HUMAN			13	1467	+			434					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.1302G>A	CCDS35393.1																																																																																				0.358	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		78	161	0	0	0	0.00361	0	78	161				
RAB33A	9363	broad.mit.edu	37	X	129318489	129318489	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:129318489C>A	ENST00000257017.4	+	2	903	c.489C>A	c.(487-489)tcC>tcA	p.S163S		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	163					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S163S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						AGGTGCCCTCCAACTTAGCCC	0.517																																							uc004evl.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(487-489)TCC>TCA		Ras-related protein Rab-33A							123.0	92.0	103.0					X																	129318489		2203	4300	6503	SO:0001819	synonymous_variant	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318489C>A	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.489C>A	X.37:g.129318489C>A						RAB33A_uc010nre.2_RNA	p.S163S	NM_004794	NP_004785	Q14088	RB33A_HUMAN			2	753	+			163					Q5JUZ6|Q92465	Silent	SNP	ENST00000257017.4	37	c.489C>A	CCDS14621.1																																																																																				0.517	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		15	49	1	0	6.31663e-08	0.003163	7.72146e-08	15	49				
GPR119	139760	broad.mit.edu	37	X	129518863	129518863	+	Missense_Mutation	SNP	C	C	A	rs142057970		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:129518863C>A	ENST00000276218.2	-	1	648	c.559G>T	c.(559-561)Gac>Tac	p.D187Y		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	187					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.D187Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TTGAGCATGTCGCAGTAGAAG	0.542																																							uc011muv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(559-561)GAC>TAC		G protein-coupled receptor 119							100.0	81.0	88.0					X																	129518863		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518863C>A	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.559G>T	X.37:g.129518863C>A	ENSP00000276218:p.Asp187Tyr						p.D187Y	NM_178471	NP_848566	Q8TDV5	GP119_HUMAN			1	559	-			187			Cytoplasmic (Potential).		Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.559G>T	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927927	0.52759	.	.	ENSG00000147262	ENST00000276218	T	0.35605	1.3	4.88	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.110147	0.64402	D	0.000012	T	0.50429	0.1615	L	0.47716	1.5	0.43444	D	0.995628	D	0.89917	1.0	D	0.74023	0.982	T	0.51325	-0.8720	10	0.87932	D	0	-5.0844	11.5503	0.50716	0.0:0.909:0.0:0.091	.	187	Q8TDV5	GP119_HUMAN	Y	187	ENSP00000276218:D187Y	ENSP00000276218:D187Y	D	-	1	0	GPR119	129346544	0.999000	0.42202	0.870000	0.34147	0.973000	0.67179	4.193000	0.58385	1.043000	0.40175	0.600000	0.82982	GAC		0.542	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		40	48	1	0	9.88483e-10	0.007835	1.27453e-09	40	48				
CCDC160	347475	broad.mit.edu	37	X	133378823	133378823	+	5'UTR	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:133378823C>A	ENST00000517294.1	+	0	376				CCDC160_ENST00000370809.4_5'UTR			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160											endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GAAGAGGTGCCTGGAGAAATG	0.358																																							uc011mvj.1		NA																	0				skin(1)	1						c.(-9--5)GCCTG>GCATG		coiled-coil domain containing 160							15.0	14.0	15.0					X																	133378823		1819	4074	5893	SO:0001623	5_prime_UTR_variant	347475							g.chrX:133378823C>A	BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.-8C>A	X.37:g.133378823C>A								NM_001101357	NP_001094827	A6NGH7	CC160_HUMAN			2	314	+									Translation_Start_Site	SNP	ENST00000517294.1	37	c.-7C>A	CCDS48171.1																																																																																				0.358	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357		6	9	1	0	0.00198382	0.001984	0.00211889	6	9				
GPR112	139378	broad.mit.edu	37	X	135428831	135428831	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:135428831C>A	ENST00000394143.1	+	6	3257	c.2966C>A	c.(2965-2967)tCc>tAc	p.S989Y	GPR112_ENST00000370652.1_Missense_Mutation_p.S989Y|GPR112_ENST00000287534.4_Missense_Mutation_p.S926Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S784Y|GPR112_ENST00000412101.1_Missense_Mutation_p.S784Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	989					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S989Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAGCTACGTCCTTGTCTGAT	0.493																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(2965-2967)TCC>TAC		G-protein coupled receptor 112							177.0	153.0	161.0					X																	135428831		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428831C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2966C>A	X.37:g.135428831C>A	ENSP00000377699:p.Ser989Tyr					GPR112_uc010nsb.1_Missense_Mutation_p.S784Y|GPR112_uc010nsc.1_Missense_Mutation_p.S756Y	p.S989Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3257	+	Acute lymphoblastic leukemia(192;0.000127)		989			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.2966C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	6.319	0.426874	0.11987	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.05;1.05;1.01;1.12;1.01	2.53	1.64	0.23874	.	.	.	.	.	T	0.28699	0.0711	L	0.32530	0.975	0.09310	N	1	B;B;B	0.27229	0.172;0.172;0.107	B;B;B	0.20955	0.032;0.032;0.014	T	0.23655	-1.0182	9	0.87932	D	0	.	6.0735	0.19903	0.3006:0.6994:0.0:0.0	.	926;784;989	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Y	989;989;784;926;784	ENSP00000377699:S989Y;ENSP00000359686:S989Y;ENSP00000416526:S784Y;ENSP00000287534:S926Y;ENSP00000377697:S784Y	ENSP00000287534:S926Y	S	+	2	0	GPR112	135256497	0.001000	0.12720	0.009000	0.14445	0.065000	0.16274	0.978000	0.29488	0.489000	0.27749	0.284000	0.19432	TCC		0.493	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			116	175	1	0	1.14936e-50	0.00361	2.20784e-50	116	175				
BRS3	680	broad.mit.edu	37	X	135574143	135574143	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:135574143C>A	ENST00000370648.3	+	3	1037	c.809C>A	c.(808-810)gCc>gAc	p.A270D		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	270					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.A270D(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AAGAGAATTGCCAGAACGGTA	0.368																																							uc004ezv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(808-810)GCC>GAC		bombesin-like receptor 3							136.0	108.0	118.0					X																	135574143		2203	4300	6503	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135574143C>A		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.809C>A	X.37:g.135574143C>A	ENSP00000359682:p.Ala270Asp						p.A270D	NM_001727	NP_001718	P32247	BRS3_HUMAN			3	958	+	Acute lymphoblastic leukemia(192;0.000127)		270			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370648.3	37	c.809C>A	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794822	0.90453	.	.	ENSG00000102239	ENST00000370648	T	0.75050	-0.9	6.17	6.17	0.99709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91019	0.7175	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92439	0.5960	10	0.56958	D	0.05	-13.5203	19.7362	0.96205	0.0:1.0:0.0:0.0	.	270	P32247	BRS3_HUMAN	D	270	ENSP00000359682:A270D	ENSP00000359682:A270D	A	+	2	0	BRS3	135401809	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.618000	0.88619	0.600000	0.82982	GCC		0.368	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		57	75	1	0	5.12918e-33	0.00361	9.21783e-33	57	75				
GPR101	83550	broad.mit.edu	37	X	136112902	136112902	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:136112902G>T	ENST00000298110.1	-	1	931	c.932C>A	c.(931-933)aCg>aAg	p.T311K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.T311K(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GCTGGCCACCGTGCTGCTCTC	0.607																																							uc011mwh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(931-933)ACG>AAG		G protein-coupled receptor 101							295.0	212.0	240.0					X																	136112902		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112902G>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.932C>A	X.37:g.136112902G>T	ENSP00000298110:p.Thr311Lys						p.T311K	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	932	-	Acute lymphoblastic leukemia(192;0.000127)		311			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.932C>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.960050	0.00465	.	.	ENSG00000165370	ENST00000298110	T	0.63255	-0.03	2.59	-3.43	0.04810	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28962	0.0719	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.25606	-1.0127	9	0.06236	T	0.91	.	3.6855	0.08327	0.4537:0.0:0.3707:0.1756	.	311	Q96P66	GP101_HUMAN	K	311	ENSP00000298110:T311K	ENSP00000298110:T311K	T	-	2	0	GPR101	135940568	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.967000	0.03821	-0.899000	0.03901	-0.403000	0.06358	ACG		0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			122	184	1	0	9.48018e-61	0.00361	1.83984e-60	122	184				
ZIC3	7547	broad.mit.edu	37	X	136652125	136652125	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:136652125G>T	ENST00000287538.5	+	3	1850	c.1300G>T	c.(1300-1302)Gct>Tct	p.A434S	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Intron	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	434					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A434S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACCCGCTATAGCTTCTGCAAA	0.428																																							uc004fak.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1300-1302)GCT>TCT		zinc finger protein of the cerebellum 3							132.0	129.0	130.0					X																	136652125		2203	4300	6503	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136652125G>T	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1300G>T	X.37:g.136652125G>T	ENSP00000287538:p.Ala434Ser						p.A434S	NM_003413	NP_003404	O60481	ZIC3_HUMAN			3	1805	+	Acute lymphoblastic leukemia(192;0.000127)		434					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.1300G>T	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	G	5.260	0.233342	0.09969	.	.	ENSG00000156925	ENST00000287538	T	0.10860	2.83	5.97	5.11	0.69529	.	0.192032	0.45361	D	0.000377	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	B	0.33694	0.421	B	0.27608	0.081	T	0.23655	-1.0182	10	0.05620	T	0.96	.	13.199	0.59756	0.0775:0.0:0.9225:0.0	.	434	O60481	ZIC3_HUMAN	S	434	ENSP00000287538:A434S	ENSP00000287538:A434S	A	+	1	0	ZIC3	136479791	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.376000	0.73141	1.274000	0.44362	0.600000	0.82982	GCT		0.428	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			94	167	1	0	1.42366e-38	0.00361	2.64695e-38	94	167				
FGF13	2258	broad.mit.edu	37	X	137939714	137939714	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:137939714C>A	ENST00000441825.2	-	1	127	c.90G>T	c.(88-90)ccG>ccT	p.P30P	FGF13_ENST00000541469.1_Intron|FGF13_ENST00000370603.3_Silent_p.P59P	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	198	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.P59P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTTGCTTCAGCGGGCAGCAGA	0.433																																							uc004faq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(175-177)CCG>CCT		fibroblast growth factor 13 isoform 3							220.0	191.0	200.0					X																	137939714		1568	3582	5150	SO:0001819	synonymous_variant	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137939714C>A	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000441825.2:c.90G>T	X.37:g.137939714C>A						FGF13_uc011mwi.1_Silent_p.P30P|FGF13_uc004far.2_Silent_p.P30P|FGF13_uc011mwj.1_Silent_p.P59P|FGF13_uc011mwk.1_Intron	p.P59P	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN			2	353	-	Acute lymphoblastic leukemia(192;0.000127)		198					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Silent	SNP	ENST00000441825.2	37	c.177G>T	CCDS55511.1																																																																																				0.433	FGF13-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_004114		60	124	1	0	9.68594e-22	0.00361	1.59595e-21	60	124				
FGF13	2258	broad.mit.edu	37	X	137939775	137939775	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:137939775G>A	ENST00000441825.2	-	1	66	c.29C>T	c.(28-30)gCg>gTg	p.A10V	FGF13_ENST00000541469.1_Intron|FGF13_ENST00000370603.3_Missense_Mutation_p.A39V	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	0	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.A39V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTTTAATTCCGCAGATTGGAT	0.463																																							uc004faq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(115-117)GCG>GTG		fibroblast growth factor 13 isoform 3							201.0	166.0	177.0					X																	137939775		1568	3582	5150	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137939775G>A	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000441825.2:c.29C>T	X.37:g.137939775G>A	ENSP00000409276:p.Ala10Val					FGF13_uc011mwi.1_Missense_Mutation_p.A10V|FGF13_uc004far.2_Missense_Mutation_p.A10V|FGF13_uc011mwj.1_Missense_Mutation_p.A39V|FGF13_uc011mwk.1_Intron	p.A39V	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN			2	292	-	Acute lymphoblastic leukemia(192;0.000127)		Error:Variant_position_missing_in_Q92913_after_alignment					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000441825.2	37	c.116C>T	CCDS55511.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063176	0.76187	.	.	ENSG00000129682	ENST00000441825;ENST00000370603;ENST00000436198;ENST00000455663;ENST00000448673;ENST00000421460	T;T;T;D	0.82526	-1.44;-1.42;-1.41;-1.62	6.07	6.07	0.98685	.	1.813940	0.02343	N	0.075063	D	0.83464	0.5260	N	0.08118	0	0.45837	D	0.998704	D	0.76494	0.999	D	0.65874	0.939	T	0.72054	-0.4406	10	0.02654	T	1	.	18.3443	0.90315	0.0:0.0:1.0:0.0	.	39	B7Z4M7	.	V	10;39;39;45;39;10	ENSP00000409276:A10V;ENSP00000359635:A39V;ENSP00000396198:A39V;ENSP00000406916:A45V	ENSP00000359635:A39V	A	-	2	0	FGF13	137767441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.229000	0.95273	2.557000	0.86248	0.594000	0.82650	GCG		0.463	FGF13-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_004114		24	74	0	0	0	0.002299	0	24	74				
ATP11C	286410	broad.mit.edu	37	X	138908907	138908907	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:138908907A>T	ENST00000327569.3	-	2	210	c.112T>A	c.(112-114)Tac>Aac	p.Y38N	ATP11C_ENST00000370557.1_Missense_Mutation_p.Y35N|ATP11C_ENST00000361648.2_Missense_Mutation_p.Y38N|ATP11C_ENST00000370543.1_Missense_Mutation_p.Y38N|ATP11C_ENST00000359686.2_Missense_Mutation_p.Y38N	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	38					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Y38N(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTGCAATGTAAGCTTCTGTT	0.363																																							uc004faz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(3)	8						c.(112-114)TAC>AAC		ATPase, class VI, type 11C isoform a							129.0	110.0	116.0					X																	138908907		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138908907A>T	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.112T>A	X.37:g.138908907A>T	ENSP00000332756:p.Tyr38Asn					ATP11C_uc004fba.2_Missense_Mutation_p.Y38N	p.Y38N	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			2	211	-	Acute lymphoblastic leukemia(192;0.000127)		38			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.112T>A	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.025911	0.54683	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.4	4.4	0.53042	.	0.145031	0.46145	D	0.000309	T	0.45816	0.1361	L	0.33753	1.03	0.40279	D	0.978376	D;D	0.59357	0.984;0.985	P;P	0.61800	0.894;0.707	T	0.29610	-1.0006	10	0.23302	T	0.38	.	10.9157	0.47135	1.0:0.0:0.0:0.0	.	38;38	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	N	35;38;38;38;38	ENSP00000359588:Y35N;ENSP00000355165:Y38N;ENSP00000332756:Y38N;ENSP00000359574:Y38N;ENSP00000352715:Y38N	ENSP00000332756:Y38N	Y	-	1	0	ATP11C	138736573	1.000000	0.71417	0.378000	0.26068	0.885000	0.51271	4.964000	0.63701	1.941000	0.56285	0.441000	0.28932	TAC		0.363	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		32	50	0	0	0	0.009535	0	32	50				
SPANXN2	494119	broad.mit.edu	37	X	142795404	142795404	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:142795404C>A	ENST00000370498.1	-	2	1027	c.274G>T	c.(274-276)Gct>Tct	p.A92S		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	92								p.L79M(1)|p.A92S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCTTCAGCTGAGTCTAGG	0.498													c|||	1	0.000264901	0.0	0.0	3775	,	,		14695	0.0		0.0	False		,,,				2504	0.001						uc004fbz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(274-276)GCT>TCT		SPANX-N2 protein							354.0	320.0	331.0					X																	142795404		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795404C>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.274G>T	X.37:g.142795404C>A	ENSP00000359529:p.Ala92Ser						p.A92S	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1028	-	Acute lymphoblastic leukemia(192;6.56e-05)		92					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.274G>T	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	c	0.902	-0.721979	0.03182	.	.	ENSG00000203924	ENST00000370498	T	0.05925	3.37	0.815	-0.283	0.12874	.	.	.	.	.	T	0.01287	0.0042	N	0.00583	-1.355	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.40251	-0.9573	8	0.06891	T	0.86	.	.	.	.	.	92	Q5MJ10	SPXN2_HUMAN	S	92	ENSP00000359529:A92S	ENSP00000359529:A92S	A	-	1	0	SPANXN2	142623070	0.996000	0.38824	0.000000	0.03702	0.000000	0.00434	1.462000	0.35266	-1.040000	0.03271	-2.000000	0.00444	GCT		0.498	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		178	388	1	0	2.02162e-65	0.00361	3.95398e-65	178	388				
AFF2	2334	broad.mit.edu	37	X	148072807	148072807	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:148072807T>A	ENST00000370460.2	+	21	4360	c.3881T>A	c.(3880-3882)gTc>gAc	p.V1294D	AFF2_ENST00000286437.5_Missense_Mutation_p.V935D|AFF2_ENST00000342251.3_Missense_Mutation_p.V1261D|AFF2_ENST00000370457.5_Missense_Mutation_p.V1259D	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1294					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.V1294D(2)|p.V935D(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAATCTTGTCCGCTACGTT	0.522																																							uc004fcp.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)	5						c.(3880-3882)GTC>GAC		fragile X mental retardation 2							240.0	166.0	191.0					X																	148072807		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148072807T>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3881T>A	X.37:g.148072807T>A	ENSP00000359489:p.Val1294Asp					AFF2_uc004fcq.2_Missense_Mutation_p.V1284D|AFF2_uc004fcr.2_Missense_Mutation_p.V1255D|AFF2_uc011mxb.1_Missense_Mutation_p.V1259D|AFF2_uc004fcs.2_Missense_Mutation_p.V1259D|AFF2_uc011mxc.1_Missense_Mutation_p.V935D	p.V1294D	NM_002025	NP_002016	P51816	AFF2_HUMAN			21	4360	+	Acute lymphoblastic leukemia(192;6.56e-05)		1294					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3881T>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368392	0.82463	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000004	D	0.85375	0.5682	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.997;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.991;0.999;0.999;0.999;1.0	D	0.87896	0.2687	10	0.87932	D	0	.	14.5985	0.68424	0.0:0.0:0.0:1.0	.	935;1259;1259;1255;1284;1294	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	D	1294;1259;1261;935	ENSP00000359489:V1294D;ENSP00000359486:V1259D;ENSP00000345459:V1261D;ENSP00000286437:V935D	ENSP00000286437:V935D	V	+	2	0	AFF2	147880513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.915000	0.87484	1.828000	0.53243	0.486000	0.48141	GTC		0.522	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		93	136	0	0	0	0.00361	0	93	136				
MTMR1	8776	broad.mit.edu	37	X	149905222	149905222	+	Silent	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:149905222G>C	ENST00000370390.3	+	10	1369	c.1212G>C	c.(1210-1212)gtG>gtC	p.V404V	MTMR1_ENST00000544228.1_Silent_p.V404V|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000445323.2_Silent_p.V412V|MTMR1_ENST00000541925.1_Silent_p.V310V|MTMR1_ENST00000451863.2_Silent_p.V404V	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	404	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.V404V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAATGTGGATGGGACGC	0.438																																							uc004fei.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1210-1212)GTG>GTC		myotubularin-related protein 1							102.0	85.0	90.0					X																	149905222		2203	4300	6503	SO:0001819	synonymous_variant	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149905222G>C	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1212G>C	X.37:g.149905222G>C						MTMR1_uc011mya.1_Silent_p.V310V|MTMR1_uc004feh.1_Silent_p.V412V|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	p.V404V	NM_003828	NP_003819	Q13613	MTMR1_HUMAN			10	1347	+	Acute lymphoblastic leukemia(192;6.56e-05)		404			Myotubularin phosphatase.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	c.1212G>C	CCDS14695.1																																																																																				0.438	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		22	49	0	0	0	0.002299	0	22	49				
HMGB3	3149	broad.mit.edu	37	X	150156302	150156302	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:150156302C>A	ENST00000325307.7	+	5	614	c.518C>A	c.(517-519)gCt>gAt	p.A173D	HMGB3_ENST00000448905.2_Missense_Mutation_p.A173D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	173					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.A173D(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGTCCTGCTAAAGTTGCC	0.443																																							uc004fep.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(517-519)GCT>GAT		high-mobility group box 3							78.0	72.0	74.0					X																	150156302		2203	4300	6503	SO:0001583	missense	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156302C>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.518C>A	X.37:g.150156302C>A	ENSP00000359393:p.Ala173Asp					HMGB3_uc004feq.2_3'UTR|HMGB3_uc004fer.2_Missense_Mutation_p.A173D	p.A173D	NM_005342	NP_005333	O15347	HMGB3_HUMAN			5	610	+	Acute lymphoblastic leukemia(192;6.56e-05)		173					O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	c.518C>A	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	c	10.15	1.271352	0.23221	.	.	ENSG00000029993	ENST00000419110;ENST00000325307;ENST00000455596;ENST00000448905	D;D;D;D	0.95656	-3.77;-3.72;-3.75;-3.72	5.0	5.0	0.66597	.	0.444926	0.21994	N	0.066101	D	0.89581	0.6756	N	0.08118	0	0.37295	D	0.908432	B	0.18461	0.028	B	0.11329	0.006	D	0.87589	0.2489	10	0.52906	T	0.07	.	15.915	0.79508	0.0:1.0:0.0:0.0	.	173	O15347	HMGB3_HUMAN	D	173	ENSP00000410354:A173D;ENSP00000359393:A173D;ENSP00000405601:A173D;ENSP00000442758:A173D	ENSP00000359393:A173D	A	+	2	0	HMGB3	149906960	0.998000	0.40836	0.999000	0.59377	0.091000	0.18340	3.991000	0.56973	2.061000	0.61500	0.600000	0.82982	GCT		0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		54	74	1	0	1.54886e-18	0.00361	2.39485e-18	54	74				
PASD1	139135	broad.mit.edu	37	X	150817161	150817161	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:150817161C>A	ENST00000370357.4	+	9	949	c.704C>A	c.(703-705)gCt>gAt	p.A235D		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	235	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A235D(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					gctgctgctgctgctATCTCA	0.428																																							uc004fev.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(703-705)GCT>GAT		PAS domain containing 1							69.0	68.0	68.0					X																	150817161		2203	4299	6502	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150817161C>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.704C>A	X.37:g.150817161C>A	ENSP00000359382:p.Ala235Asp						p.A235D	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			9	1036	+	Acute lymphoblastic leukemia(192;6.56e-05)		235			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.704C>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.487745	0.01018	.	.	ENSG00000166049	ENST00000370357	T	0.70282	-0.47	0.597	0.597	0.17504	.	.	.	.	.	T	0.47135	0.1429	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40720	-0.9548	8	0.62326	D	0.03	.	.	.	.	.	235	Q8IV76	PASD1_HUMAN	D	235	ENSP00000359382:A235D	ENSP00000359382:A235D	A	+	2	0	PASD1	150567817	0.000000	0.05858	0.050000	0.19076	0.320000	0.28249	-0.136000	0.10405	0.521000	0.28445	0.292000	0.19580	GCT		0.428	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		63	99	1	0	4.09171e-25	0.00361	6.95498e-25	63	99				
GABRA3	2556	broad.mit.edu	37	X	151514097	151514097	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:151514097C>T	ENST00000370314.4	-	3	456	c.218G>A	c.(217-219)cGt>cAt	p.R73H	GABRA3_ENST00000535043.1_Missense_Mutation_p.R73H	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	73					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R73H(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTCCAGAAGACGATCCAAGAT	0.473																																					NSCLC(142;2578 2613 10251 16743)	NSCLC(142;2578 2613 10251 16743)	uc010ntk.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)	1						c.(217-219)CGT>CAT		gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						121.0	107.0	112.0					X																	151514097		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151514097C>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.218G>A	X.37:g.151514097C>T	ENSP00000359337:p.Arg73His						p.R73H	NM_000808	NP_000799	P34903	GBRA3_HUMAN			3	458	-	Acute lymphoblastic leukemia(192;6.56e-05)		73			Extracellular (Probable).		Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.218G>A	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132300	0.94473	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.79454	-1.27;-1.27;-1.27	5.71	5.71	0.89125	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.82412	0.5031	M	0.64080	1.96	0.53005	D	0.999967	D	0.65815	0.995	P	0.52598	0.703	D	0.84527	0.0631	10	0.72032	D	0.01	.	16.1044	0.81212	0.0:1.0:0.0:0.0	.	73	P34903	GBRA3_HUMAN	H	73	ENSP00000359337:R73H;ENSP00000359334:R73H;ENSP00000443527:R73H	ENSP00000359334:R73H	R	-	2	0	GABRA3	151264753	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.078000	0.76821	2.404000	0.81709	0.509000	0.49947	CGT		0.473	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		22	98	0	0	0	0.012319	0	22	98				
GABRQ	55879	broad.mit.edu	37	X	151821209	151821209	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:151821209C>A	ENST00000370306.2	+	9	1384	c.1364C>A	c.(1363-1365)tCc>tAc	p.S455Y		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	455					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)	p.S455Y(1)		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)	GATCTCCCCTCCACCTCAGAG	0.597																																							uc004ffp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1363-1365)TCC>TAC		gamma-aminobutyric acid (GABA) receptor, theta							99.0	92.0	94.0					X																	151821209		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:151821209C>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.1364C>A	X.37:g.151821209C>A	ENSP00000359329:p.Ser455Tyr						p.S455Y	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			9	1384	+	Acute lymphoblastic leukemia(192;6.56e-05)		455					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1364C>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594538	0.46214	.	.	ENSG00000147402	ENST00000370306	D	0.83914	-1.78	4.59	2.78	0.32641	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.006940	0.07991	N	0.987063	D	0.82563	0.5064	L	0.48642	1.525	0.09310	N	1	P	0.45283	0.855	P	0.50490	0.642	T	0.69506	-0.5127	10	0.87932	D	0	.	5.2651	0.15595	0.0:0.6829:0.2034:0.1137	.	455	Q9UN88	GBRT_HUMAN	Y	455	ENSP00000359329:S455Y	ENSP00000359329:S455Y	S	+	2	0	GABRQ	151571865	0.114000	0.22134	0.025000	0.17156	0.944000	0.59088	0.992000	0.29667	0.616000	0.30141	0.600000	0.82982	TCC		0.597	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		56	90	1	0	1.44317e-28	0.00361	2.52136e-28	56	90				
ATP2B3	492	broad.mit.edu	37	X	152825205	152825205	+	Missense_Mutation	SNP	G	G	T	rs200009523		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:152825205G>T	ENST00000349466.2	+	17	2970	c.2644G>T	c.(2644-2646)Gtg>Ttg	p.V882L	ATP2B3_ENST00000393842.1_Missense_Mutation_p.V868L|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V882L|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V882L|ATP2B3_ENST00000370186.1_Missense_Mutation_p.V868L|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V868L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	882					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.V882L(3)|p.V868L(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCAAAGCCGTGCAGATGTT	0.617																																							uc004fht.1		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(1)	1						c.(2644-2646)GTG>TTG		plasma membrane calcium ATPase 3 isoform 3b							89.0	79.0	82.0					X																	152825205		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152825205G>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2644G>T	X.37:g.152825205G>T	ENSP00000343886:p.Val882Leu					ATP2B3_uc004fhs.1_Missense_Mutation_p.V882L|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank	p.V882L	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			16	2770	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		882			Helical; (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2644G>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810423	0.90707	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	5.32	5.32	0.75619	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96867	0.8977	M	0.76838	2.35	0.80722	D	1	P;D	0.55385	0.84;0.971	P;P	0.55112	0.66;0.769	D	0.97478	1.0045	10	0.87932	D	0	-27.497	16.7389	0.85454	0.0:0.0:1.0:0.0	.	882;882	Q16720;Q16720-2	AT2B3_HUMAN;.	L	868;882;868;882;882;868	ENSP00000359205:V868L;ENSP00000343886:V882L;ENSP00000377425:V868L;ENSP00000352062:V882L;ENSP00000263519:V882L;ENSP00000359200:V868L	ENSP00000263519:V882L	V	+	1	0	ATP2B3	152478399	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.929000	0.87595	2.212000	0.71576	0.529000	0.55759	GTG		0.617	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		20	44	1	0	1.01871e-10	0.008871	1.36251e-10	20	44				
DUSP9	1852	broad.mit.edu	37	X	152914962	152914962	+	Silent	SNP	C	C	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:152914962C>A	ENST00000342782.3	+	3	914	c.649C>A	c.(649-651)Cgg>Agg	p.R217R	DUSP9_ENST00000370167.4_Silent_p.R217R			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	217	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R217R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCAGTGCCCGGGATTCCGC	0.597																																							uc004fhx.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(649-651)CGG>AGG		dual specificity phosphatase 9							74.0	71.0	72.0					X																	152914962		2203	4300	6503	SO:0001819	synonymous_variant	1852				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:152914962C>A	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.649C>A	X.37:g.152914962C>A						DUSP9_uc004fhy.3_Silent_p.R217R	p.R217R	NM_001395	NP_001386	Q99956	DUS9_HUMAN			3	853	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		217			Tyrosine-protein phosphatase.		D3DWU5	Silent	SNP	ENST00000342782.3	37	c.649C>A	CCDS14724.1																																																																																				0.597	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		33	66	1	0	4.74835e-14	0.010818	6.759e-14	33	66				
AVPR2	554	broad.mit.edu	37	X	153171777	153171777	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153171777A>G	ENST00000358927.2	+	3	1026	c.817A>G	c.(817-819)Acg>Gcg	p.T273A	AVPR2_ENST00000370049.1_Missense_Mutation_p.T273A|AVPR2_ENST00000337474.5_Missense_Mutation_p.T273A			P30518	V2R_HUMAN	arginine vasopressin receptor 2	273					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.T273A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TGTGAGGATGACGCTAGTGAT	0.672																																							uc004fjh.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(817-819)ACG>GCG		arginine vasopressin receptor 2 isoform 1	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						197.0	147.0	164.0					X																	153171777		2203	4300	6503	SO:0001583	missense	554				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171777A>G	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.817A>G	X.37:g.153171777A>G	ENSP00000351805:p.Thr273Ala					AVPR2_uc004fjg.3_Missense_Mutation_p.T62A|AVPR2_uc004fji.2_Missense_Mutation_p.T273A	p.T273A	NM_000054	NP_000045	P30518	V2R_HUMAN			2	888	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		273			Helical; Name=6; (Potential).		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.817A>G	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	a	18.21	3.574168	0.65878	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	3.56	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.050731	0.85682	D	0.000000	T	0.69922	0.3165	H	0.96805	3.885	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78727	-0.2091	10	0.87932	D	0	-19.9706	11.0587	0.47933	1.0:0.0:0.0:0.0	.	273;273	P30518-2;P30518	.;V2R_HUMAN	A	273	ENSP00000351805:T273A;ENSP00000393513:T273A;ENSP00000338072:T273A;ENSP00000359066:T273A	ENSP00000338072:T273A	T	+	1	0	AVPR2	152824971	1.000000	0.71417	0.999000	0.59377	0.732000	0.41865	7.215000	0.77966	1.396000	0.46663	0.218000	0.17770	ACG		0.672	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			3	133	0	0	0	0.004672	0	3	133				
RENBP	5973	broad.mit.edu	37	X	153209095	153209095	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153209095C>T	ENST00000393700.3	-	5	445	c.365G>A	c.(364-366)gGc>gAc	p.G122D	RENBP_ENST00000369997.3_Missense_Mutation_p.G108D|RENBP_ENST00000412763.1_Missense_Mutation_p.G122D|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	122					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)	p.G112D(1)|p.G122D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GACCGGGCGGCCGTCCCGAGT	0.612																																							uc004fjo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(364-366)GGC>GAC		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						123.0	85.0	98.0					X																	153209095		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153209095C>T		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.365G>A	X.37:g.153209095C>T	ENSP00000377303:p.Gly122Asp					RENBP_uc011mzh.1_Missense_Mutation_p.G122D	p.G122D	NM_002910	NP_002901	P51606	RENBP_HUMAN			5	535	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		122					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.365G>A	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834162	0.91036	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.42131	0.98;1.12;0.98	4.68	4.68	0.58851	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81951	-0.0698	10	0.87932	D	0	-21.0219	15.719	0.77694	0.0:1.0:0.0:0.0	.	122;122	P51606-2;P51606	.;RENBP_HUMAN	D	122;122;108	ENSP00000377303:G122D;ENSP00000387811:G122D;ENSP00000359014:G108D	ENSP00000359014:G108D	G	-	2	0	RENBP	152862289	1.000000	0.71417	0.562000	0.28370	0.943000	0.58893	6.683000	0.74533	2.042000	0.60477	0.513000	0.50165	GGC		0.612	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		4	109	0	0	0	0.009096	0	4	109				
HCFC1	3054	broad.mit.edu	37	X	153222985	153222985	+	Splice_Site	SNP	C	C	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153222985C>T	ENST00000310441.7	-	13	3100		c.e13-1		HCFC1_ENST00000354233.3_Splice_Site|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Splice_Site	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1						cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.?(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTTTGGTCTGAAAGGGGG	0.627																																							uc004fjp.2		NA																	2	Unknown(2)		lung(2)	ovary(2)	2						c.e13-1		host cell factor 1							39.0	41.0	40.0					X																	153222985		2016	4150	6166	SO:0001630	splice_region_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153222985C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2134-1G>A	X.37:g.153222985C>T							p.T712_splice	NM_005334	NP_005325	P51610	HCFC1_HUMAN			13	2662	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)							Q6P4G5	Splice_Site	SNP	ENST00000310441.7	37	c.2134_splice	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320227	0.60634	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5468	0.84449	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HCFC1	152876179	1.000000	0.71417	0.994000	0.49952	0.496000	0.33645	7.318000	0.79029	2.163000	0.67991	0.600000	0.82982	.		0.627	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	Intron	31	31	0	0	0	0.007291	0	31	31				
FLNA	2316	broad.mit.edu	37	X	153581773	153581773	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153581773G>C	ENST00000369850.3	-	37	6149	c.5913C>G	c.(5911-5913)atC>atG	p.I1971M	FLNA_ENST00000369856.3_Missense_Mutation_p.I104M|FLNA_ENST00000422373.1_Missense_Mutation_p.I1963M|FLNA_ENST00000344736.4_Missense_Mutation_p.I1931M|FLNA_ENST00000360319.4_Missense_Mutation_p.I1963M|FLNA_ENST00000498491.1_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1971					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.I1971M(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTTGATGGGGATGTCGGCAG	0.632																																							uc004fkk.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(6)	6						c.(5911-5913)ATC>ATG		filamin A, alpha isoform 2							56.0	61.0	60.0					X																	153581773		2168	4244	6412	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581773G>C	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5913C>G	X.37:g.153581773G>C	ENSP00000358866:p.Ile1971Met					FLNA_uc004fki.2_Missense_Mutation_p.I14M|FLNA_uc011mzn.1_Missense_Mutation_p.I104M|FLNA_uc010nuu.1_Missense_Mutation_p.I1963M	p.I1971M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			37	6162	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1971			Filamin 18.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.5913C>G	CCDS48194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.34|13.34	2.206988|2.206988	0.39003|0.39003	.|.	.|.	ENSG00000196924|ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736|ENST00000438732	T;T;T;T;T|.	0.75589|.	0.88;0.88;0.88;-0.95;0.88|.	5.69|5.69	3.57|3.57	0.40892|0.40892	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57725|0.57725	0.2073|0.2073	L|L	0.49126|0.49126	1.545|1.545	0.48288|0.48288	D|D	0.999623|0.999623	D;P;B;B|.	0.58970|.	0.984;0.555;0.009;0.009|.	D;P;B;B|.	0.71414|.	0.973;0.657;0.022;0.022|.	T|T	0.53975|0.53975	-0.8362|-0.8362	10|5	0.72032|.	D|.	0.01|.	.|.	9.6846|9.6846	0.40091|0.40091	0.1323:0.0:0.7392:0.1285|0.1323:0.0:0.7392:0.1285	.|.	104;1963;1971;1971|.	E9PHF0;P21333-2;P21333;E9KL45|.	.;.;FLNA_HUMAN;.|.	M|C	1963;1944;1963;1971;104;1931|196	ENSP00000353467:I1963M;ENSP00000416926:I1963M;ENSP00000358866:I1971M;ENSP00000358872:I104M;ENSP00000358863:I1931M|.	ENSP00000358863:I1931M|.	I|S	-|-	3|2	3|0	FLNA|FLNA	153234967|153234967	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	0.611000|0.611000	0.24268|0.24268	1.157000|1.157000	0.42530|0.42530	-0.568000|-0.568000	0.04159|0.04159	ATC|TCC		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			34	65	0	0	0	0.003755	0	34	65				
SLC10A3	8273	broad.mit.edu	37	X	153716929	153716929	+	Silent	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153716929G>T	ENST00000393587.4	-	3	614	c.351C>A	c.(349-351)atC>atA	p.I117I	SLC10A3_ENST00000369649.4_Silent_p.I117I|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Silent_p.I172I|SLC10A3_ENST00000263512.4_Silent_p.I117I|UBL4A_ENST00000369660.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	117					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.I117I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCACGTTCTTGATGGTCAGCA	0.637																																							uc004flq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(349-351)ATC>ATA		solute carrier family 10, member 3 isoform 1							91.0	78.0	82.0					X																	153716929		2203	4300	6503	SO:0001819	synonymous_variant	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716929G>T	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.351C>A	X.37:g.153716929G>T						UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Silent_p.I117I|SLC10A3_uc004flp.2_Silent_p.I117I	p.I117I	NM_001142392	NP_001135864	P09131	P3_HUMAN			3	615	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		117					Q5HY79|Q9BSL2	Silent	SNP	ENST00000393587.4	37	c.351C>A	CCDS14755.1																																																																																				0.637	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		4	143	1	0	2.56e-06	0.009096	2.97941e-06	4	143				
IKBKG	8517	broad.mit.edu	37	X	153780355	153780355	+	Silent	SNP	C	C	A	rs149511938	byFrequency	TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153780355C>A	ENST00000369606.4	+	2	592	c.138C>A	c.(136-138)ggC>ggA	p.G46G	IKBKG_ENST00000470142.1_Silent_p.G46G|IKBKG_ENST00000455588.2_Silent_p.G46G|IKBKG_ENST00000369601.3_Silent_p.G46G|IKBKG_ENST00000393549.2_Silent_p.G46G|IKBKG_ENST00000369607.1_Silent_p.G46G|IKBKG_ENST00000369609.5_Silent_p.G114G|IKBKG_ENST00000369602.3_Silent_p.G46G|IKBKG_ENST00000263518.6_Silent_p.G46G	NM_001099857.1	NP_001093327.1	Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	46	Interaction with CHUK/IKBKB.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|inflammatory response (GO:0006954)|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)|negative regulation of neuron death (GO:1901215)|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 transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular (GO:0005622)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	linear polyubiquitin binding (GO:1990450)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)	p.G46G(1)|p.G114G(1)		endometrium(1)|lung(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGAACAGGGCGCTCCTGAGA	0.632																																							uc004fmb.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(136-138)GGC>GGA		inhibitor of kappa light polypeptide gene							63.0	60.0	61.0					X																	153780355		2203	4300	6503	SO:0001819	synonymous_variant	8517	Incontinentia_Pigmenttype_2			activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|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|response to DNA damage stimulus|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|transcription, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity	g.chrX:153780355C>A	AF074382	CCDS14757.1, CCDS48196.1, CCDS48197.1	Xq28	2014-09-17			ENSG00000073009	ENSG00000269335		"""Zinc fingers, C2HC-type containing"""	5961	protein-coding gene	gene with protein product		300248	"""incontinentia pigmenti"""	IP2, IP1		9751060, 10087442, 11590134	Standard	NM_001099857		Approved	IKK-gamma, NEMO, Fip3p, FIP-3, FIP3, ZC2HC9	uc011mzr.2	Q9Y6K9	OTTHUMG00000024234	ENST00000369606.4:c.138C>A	X.37:g.153780355C>A						IKBKG_uc011mzr.1_Silent_p.G114G|IKBKG_uc010nva.2_Silent_p.G34G|IKBKG_uc011mzs.1_Silent_p.G46G|IKBKG_uc004fma.3_RNA|IKBKG_uc004fmc.3_Silent_p.G34G|IKBKG_uc004fmd.2_Silent_p.G46G|IKBKG_uc010nvc.1_Silent_p.G34G|IKBKG_uc010nvd.1_Silent_p.G34G	p.G46G	NM_001099857	NP_001093327	Q9Y6K9	NEMO_HUMAN			2	552	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		46			Interaction with CHUK/IKBKB.		Q7LBY6|Q7Z7F1	Silent	SNP	ENST00000369606.4	37	c.138C>A	CCDS14757.1																																																																																				0.632	IKBKG-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061156.2	NM_003639		46	71	1	0	9.58827e-17	0.00361	1.44399e-16	46	71				
GAB3	139716	broad.mit.edu	37	X	153927787	153927787	+	Splice_Site	SNP	G	G	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:153927787G>T	ENST00000369575.3	-	6	1155	c.1124C>A	c.(1123-1125)cCa>cAa	p.P375Q	GAB3_ENST00000424127.2_Splice_Site_p.P376Q|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	375					macrophage differentiation (GO:0030225)			p.P375Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAACCTGCATGGCTGCAAAAG	0.522																																							uc004fmj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1123-1125)CCA>CAA		Gab3 protein isoform 2							38.0	37.0	37.0					X																	153927787		2203	4300	6503	SO:0001630	splice_region_variant	139716							g.chrX:153927787G>T	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1123-1C>A	X.37:g.153927787G>T						GAB3_uc004fmk.1_Missense_Mutation_p.P376Q|GAB3_uc010nve.1_Missense_Mutation_p.P376Q|GAB3_uc004fml.1_5'UTR	p.P375Q	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN			6	1172	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		375					A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.1124C>A	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667415	0.67814	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.39229	1.09;1.09;1.09	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.83118	2.625	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.982;0.987;0.982	T	0.68500	-0.5392	10	0.40728	T	0.16	-20.5558	15.8335	0.78778	0.0:0.0:1.0:0.0	.	376;376;375	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	Q	375;376;376	ENSP00000358588:P375Q;ENSP00000358581:P376Q;ENSP00000399588:P376Q	ENSP00000358581:P376Q	P	-	2	0	GAB3	153580981	1.000000	0.71417	0.871000	0.34182	0.717000	0.41224	6.607000	0.74163	2.337000	0.79520	0.529000	0.55759	CCA		0.522	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573	Missense_Mutation	30	32	1	0	5.45727e-16	0.008361	8.08922e-16	30	32				
F8	2157	broad.mit.edu	37	X	154065972	154065972	+	Missense_Mutation	SNP	G	G	C	rs137852472		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:154065972G>C	ENST00000360256.4	-	26	7156	c.6956C>G	c.(6955-6957)cCg>cGg	p.P2319R	F8_ENST00000330287.6_Missense_Mutation_p.P184R	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2319	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.		P -> L (in HEMA; mild/severe). {ECO:0000269|PubMed:10910913, ECO:0000269|PubMed:11410838, ECO:0000269|PubMed:12871415}.|P -> S (in HEMA; mild). {ECO:0000269|PubMed:1908817, ECO:0000269|PubMed:9829908}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.P2319R(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTCAGTAACGGTGGGTCTAG	0.502																																							uc004fmt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	GRCh37	CM080273|CM910151	F8	M	rs137852472	c.(6955-6957)CCG>CGG		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						81.0	69.0	73.0					X																	154065972		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154065972G>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6956C>G	X.37:g.154065972G>C	ENSP00000353393:p.Pro2319Arg					F8_uc004fms.2_Missense_Mutation_p.P184R	p.P2319R	NM_000132	NP_000123	P00451	FA8_HUMAN			26	7127	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2319		P -> L (in HEMA; mild/severe).|P -> S (in HEMA; mild).	F5/8 type C 2.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.6956C>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	12.38	1.919865	0.33908	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.98207	-4.79;-4.79	4.74	4.74	0.60224	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	M	0.89214	3.015	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99663	1.0994	10	0.87932	D	0	-11.9523	12.2379	0.54526	0.0:0.0:1.0:0.0	.	2319;184	P00451;Q14286	FA8_HUMAN;.	R	184;2319	ENSP00000327895:P184R;ENSP00000353393:P2319R	ENSP00000327895:P184R	P	-	2	0	F8	153719166	1.000000	0.71417	0.660000	0.29694	0.020000	0.10135	5.710000	0.68392	1.932000	0.55993	0.526000	0.51066	CCG		0.502	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			14	37	0	0	0	0.00245	0	14	37				
F8	2157	broad.mit.edu	37	X	154225253	154225253	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:154225253G>A	ENST00000360256.4	-	3	583	c.383C>T	c.(382-384)tCt>tTt	p.S128F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	128	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S128F(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTCACCCTCAGAAGCTTTCCA	0.423																																							uc004fmt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(382-384)TCT>TTT		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						183.0	162.0	169.0					X																	154225253		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154225253G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.383C>T	X.37:g.154225253G>A	ENSP00000353393:p.Ser128Phe					F8_uc011mzx.1_Missense_Mutation_p.S93F	p.S128F	NM_000132	NP_000123	P00451	FA8_HUMAN			3	554	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		128			Plastocyanin-like 1.|F5/8 type A 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.383C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384887	0.61956	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.99070	-5.39;-5.39;-5.39	5.03	5.03	0.67393	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.059734	0.64402	D	0.000001	D	0.99233	0.9733	M	0.84846	2.72	0.42008	D	0.990923	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99486	1.0949	10	0.87932	D	0	-17.6598	12.8452	0.57825	0.0:0.0:1.0:0.0	.	93;128	B1B0G8;P00451	.;FA8_HUMAN	F	128;93;122	ENSP00000353393:S128F;ENSP00000409446:S93F;ENSP00000389153:S122F	ENSP00000353393:S128F	S	-	2	0	F8	153878447	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	7.954000	0.87848	2.087000	0.62958	0.436000	0.28706	TCT		0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			100	168	0	0	0	0.00361	0	100	168				
PAPPA2	60676	broad.mit.edu	37	1	176525976	176525976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:176525976delC	ENST00000367662.3	+	2	1682	c.518delC	c.(517-519)accfs	p.T174fs	PAPPA2_ENST00000367661.3_Frame_Shift_Del_p.T174fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	174	Poly-Thr.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCACTACTACCACCGCCATT	0.577																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(517-519)ACCfs		pappalysin 2 isoform 1							76.0	85.0	82.0					1																	176525976		2069	4199	6268	SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525976delC	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.518delC	1.37:g.176525976delC	ENSP00000356634:p.Thr174fs					PAPPA2_uc001gky.1_Frame_Shift_Del_p.T173fs|PAPPA2_uc009www.2_RNA	p.T173fs	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1682	+			173			Poly-Thr.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Del	DEL	ENST00000367662.3	37	c.518delC	CCDS41438.1																																																																																				0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			55	133	NA	NA	NA	NA	NA	55	133	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216538348	216538348	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:216538348delC	ENST00000307340.3	-	4	1117	c.731delG	c.(730-732)ggtfs	p.G244fs	USH2A_ENST00000366942.3_Frame_Shift_Del_p.G244fs|USH2A_ENST00000366943.2_Frame_Shift_Del_p.G244fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	244					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTAATTGAACCACTTAGAGT	0.353										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(730-732)GGTfs		usherin isoform B							135.0	127.0	130.0					1																	216538348		2202	4300	6502	SO:0001589	frameshift_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216538348delC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.731delG	1.37:g.216538348delC	ENSP00000305941:p.Gly244fs	HNSCC(13;0.011)				USH2A_uc001hkv.2_Frame_Shift_Del_p.G244fs	p.G244fs	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	4	1118	-			244			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Del	DEL	ENST00000307340.3	37	c.731delG	CCDS31025.1																																																																																				0.353	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		23	47	NA	NA	NA	NA	NA	23	47	---	---	---	---
OR2M1P	388762	broad.mit.edu	37	1	248286052	248286053	+	IGR	DEL	GG	GG	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr1:248286052_248286053delGG								OR2L13 (21828 upstream) : OR2M5 (22396 downstream)																							AGGACAAGCTGGTGTCTGTATT	0.505																																							uc001idy.1		NA																	0					0						c.(613-618)CTGGTGfs		RecName: Full=Olfactory receptor 2M5;																																				SO:0001628	intergenic_variant	388762							g.chr1:248286052_248286053delGG																													1.37:g.248286052_248286053delGG							p.L205fs	NR_002141						1	615_616	+									Frame_Shift_Del	DEL		37	c.615_616delGG																																																																																				0	0.505									49	74	NA	NA	NA	NA	NA	49	74	---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95169426	95169426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr10:95169426delC	ENST00000359263.4	-	6	503	c.504delG	c.(502-504)gggfs	p.G168fs	MYOF_ENST00000371502.4_Frame_Shift_Del_p.G168fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.G168fs|MYOF_ENST00000371501.4_Frame_Shift_Del_p.G168fs|MYOF_ENST00000371489.1_Frame_Shift_Del_p.G168fs	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	168					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCCAACTGGCCCCTTGGGCC	0.542																																							uc001kin.2		NA																	0				ovary(3)|breast(1)	4						c.(502-504)GGGfs		myoferlin isoform a							239.0	238.0	238.0					10																	95169426		1934	4132	6066	SO:0001589	frameshift_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95169426delC	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.504delG	10.37:g.95169426delC	ENSP00000352208:p.Gly168fs					MYOF_uc001kio.2_Frame_Shift_Del_p.G168fs|MYOF_uc001kip.3_Frame_Shift_Del_p.G168fs|MYOF_uc009xuf.2_Frame_Shift_Del_p.G150fs	p.G168fs	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			6	627	-			168			Cytoplasmic (Potential).		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Frame_Shift_Del	DEL	ENST00000359263.4	37	c.504delG	CCDS41551.1																																																																																				0.542	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		164	265	NA	NA	NA	NA	NA	164	265	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	21555993	21555993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:21555993delC	ENST00000357134.5	+	16	1871	c.1719delC	c.(1717-1719)tacfs	p.Y573fs	NELL1_ENST00000325319.5_Frame_Shift_Del_p.Y516fs|NELL1_ENST00000298925.5_Frame_Shift_Del_p.Y601fs|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	573	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.			Y -> H (in Ref. 7; AAB06946). {ECO:0000305}.	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						CAGGGTGGTACCACTGTGAGT	0.517																																							uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1717-1719)TACfs		nel-like 1 isoform 1 precursor							191.0	156.0	168.0					11																	21555993		2203	4300	6503	SO:0001589	frameshift_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21555993delC	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.1719delC	11.37:g.21555993delC	ENSP00000349654:p.Tyr573fs					NELL1_uc001mqf.2_Intron|NELL1_uc009yid.2_Frame_Shift_Del_p.Y601fs|NELL1_uc010rdo.1_Frame_Shift_Del_p.Y516fs|NELL1_uc010rdp.1_Intron|NELL1_uc001mqh.2_Frame_Shift_Del_p.T183fs	p.Y573fs	NM_006157	NP_006148	Q92832	NELL1_HUMAN			16	1872	+			573	Y -> H (in Ref. 7; AAB06946).		EGF-like 5; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Frame_Shift_Del	DEL	ENST00000357134.5	37	c.1719delC	CCDS7855.1																																																																																				0.517	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		21	67	NA	NA	NA	NA	NA	21	67	---	---	---	---
OR5T2	219464	broad.mit.edu	37	11	55999938	55999938	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr11:55999938delC	ENST00000313264.4	-	1	799	c.724delG	c.(724-726)gtgfs	p.V242fs		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATAGAGCCCACAAAGTAGAAG	0.433																																							uc010rjc.1		NA																	0				ovary(2)	2						c.(724-726)GTGfs		olfactory receptor, family 5, subfamily T,							117.0	110.0	113.0					11																	55999938		2201	4296	6497	SO:0001589	frameshift_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999938delC	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.724delG	11.37:g.55999938delC	ENSP00000323688:p.Val242fs						p.V242fs	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	724	-	Esophageal squamous(21;0.00448)		242			Helical; Name=5; (Potential).		B9EGX5|Q6IFC8	Frame_Shift_Del	DEL	ENST00000313264.4	37	c.724delG	CCDS31523.1																																																																																				0.433	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		60	86	NA	NA	NA	NA	NA	60	86	---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36686012	36686012	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:36686012delC	ENST00000360631.3	-	3	928	c.717delG	c.(715-717)gggfs	p.G239fs	DCLK1_ENST00000379892.4_Frame_Shift_Del_p.G239fs|DCLK1_ENST00000255448.4_Frame_Shift_Del_p.G239fs			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	239	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTACCTGTTTCCCATCCAACG	0.483																																							uc001uvf.2		NA																	0				stomach(6)|ovary(2)|skin(1)	9						c.(715-717)GGGfs		doublecortin-like kinase 1							91.0	80.0	84.0					13																	36686012		2203	4300	6503	SO:0001589	frameshift_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686012delC	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.717delG	13.37:g.36686012delC	ENSP00000353846:p.Gly239fs						p.G239fs	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	3	950	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	239			Doublecortin 2.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Frame_Shift_Del	DEL	ENST00000360631.3	37	c.717delG																																																																																					0.483	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		13	81	NA	NA	NA	NA	NA	13	81	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46549613	46549616	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	CTCT	CTCT	-	-	CTCT	CTCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:46549613_46549616delCTCT	ENST00000242848.4	-	12	2618_2621	c.2270_2273delAGAG	c.(2269-2274)gagaggfs	p.ER775fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.ER775fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	775	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctctctctccctctctctctcttc	0.529																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NA																	0				ovary(1)|lung(1)	2						c.(2269-2274)GAGAGGfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46549613_46549616delCTCT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2270_2273delAGAG	13.37:g.46549621_46549624delCTCT	ENSP00000242848:p.Glu775fs					ZC3H13_uc001vas.1_Frame_Shift_Del_p.E757fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.E757fs	p.E757fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	11	2276_2279	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	757_758			Arg/Glu-rich.|Potential.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.2270_2273delAGAG																																																																																					0.529	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		30	33	NA	NA	NA	NA	NA	30	33	---	---	---	---
GPC6	10082	broad.mit.edu	37	13	94482692	94482704	+	Frame_Shift_Del	DEL	ACGTGCCCCGGAA	ACGTGCCCCGGAA	-	rs201761005|rs376951709|rs376665919|rs143089233		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	ACGTGCCCCGGAA	ACGTGCCCCGGAA	-	-	ACGTGCCCCGGAA	ACGTGCCCCGGAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr13:94482692_94482704delACGTGCCCCGGAA	ENST00000377047.4	+	3	1220_1232	c.605_617delACGTGCCCCGGAA	c.(604-618)gacgtgccccggaaafs	p.DVPRK202fs	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	202					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.V203L(1)|p.V203M(1)|p.P204H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCATTTGGAGACGTGCCCCGGAAACTGAAGATT	0.502																																							uc001vlt.2		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)		0						c.(604-618)GACGTGCCCCGGAAAfs		glypican 6 precursor																																				SO:0001589	frameshift_variant	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94482692_94482704delACGTGCCCCGGAA	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.605_617delACGTGCCCCGGAA	13.37:g.94482692_94482704delACGTGCCCCGGAA	ENSP00000366246:p.Asp202fs					GPC6_uc010tig.1_Frame_Shift_Del_p.D202fs|GPC6_uc001vlu.1_Frame_Shift_Del_p.D132fs	p.D202fs	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			3	1237_1249	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	202_206					A8K279|Q96SG5|Q96SG8|Q9H1P4	Frame_Shift_Del	DEL	ENST00000377047.4	37	c.605_617delACGTGCCCCGGAA	CCDS9469.1																																																																																				0.502	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		9	50	NA	NA	NA	NA	NA	9	50	---	---	---	---
SYT16	83851	broad.mit.edu	37	14	62567160	62567160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr14:62567160delC	ENST00000430451.2	+	6	1870	c.1673delC	c.(1672-1674)tccfs	p.S558fs	RP11-355I22.2_ENST00000554252.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	558	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CAAGAGATGTCCCGTTGCAAG	0.463																																							uc001xfu.1		NA																	0				central_nervous_system(1)	1						c.(1672-1674)TCCfs		synaptotagmin XIV-like							65.0	59.0	61.0					14																	62567160		1918	4114	6032	SO:0001589	frameshift_variant	83851							g.chr14:62567160delC	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1673delC	14.37:g.62567160delC	ENSP00000394700:p.Ser558fs					SYT16_uc010tse.1_Frame_Shift_Del_p.S116fs	p.S558fs	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	6	1870	+			558			C2 2.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Frame_Shift_Del	DEL	ENST00000430451.2	37	c.1673delC	CCDS45121.1																																																																																				0.463	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		32	27	NA	NA	NA	NA	NA	32	27	---	---	---	---
PALB2	79728	broad.mit.edu	37	16	23637683	23637683	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr16:23637683delG	ENST00000261584.4	-	7	2774	c.2622delC	c.(2620-2622)gccfs	p.A874fs	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	874	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CCCAAAACATGGCACTCACAT	0.443			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																															uc002dlx.1		NA	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			0				lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(2620-2622)GCCfs	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							146.0	130.0	136.0					16																	23637683		2197	4300	6497	SO:0001589	frameshift_variant	79728	FanconAnemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23637683delG		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2622delC	16.37:g.23637683delG	ENSP00000261584:p.Ala874fs						p.A874fs	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	7	2822	-			874			Interaction with RAD51 and BRCA2.|WD 1.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Frame_Shift_Del	DEL	ENST00000261584.4	37	c.2622delC	CCDS32406.1																																																																																				0.443	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		22	169	NA	NA	NA	NA	NA	22	169	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10402323	10402323	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr17:10402323delC	ENST00000226207.5	-	29	4046	c.3952delG	c.(3952-3954)gaafs	p.E1318fs	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1318					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTTTCAGTTCCTCAATCTGT	0.393																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(3952-3954)GAAfs		myosin, heavy chain 1, skeletal muscle, adult							194.0	174.0	181.0					17																	10402323		2203	4300	6503	SO:0001589	frameshift_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10402323delC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3952delG	17.37:g.10402323delC	ENSP00000226207:p.Glu1318fs					uc002gml.1_Intron	p.E1318fs	NM_005963	NP_005954	P12882	MYH1_HUMAN			29	4046	-			1318			Potential.		Q14CA4|Q9Y622	Frame_Shift_Del	DEL	ENST00000226207.5	37	c.3952delG	CCDS11155.1																																																																																				0.393	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		26	85	NA	NA	NA	NA	NA	26	85	---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13731472	13731484	+	5'UTR	DEL	TAGTGTTGGTTCA	TAGTGTTGGTTCA	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	TAGTGTTGGTTCA	TAGTGTTGGTTCA	-	-	TAGTGTTGGTTCA	TAGTGTTGGTTCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr18:13731472_13731484delTAGTGTTGGTTCA	ENST00000383314.2	+	0	198_208				RNMT_ENST00000535051.1_Intron|RNMT_ENST00000592764.1_5'UTR|RNMT_ENST00000262173.3_5'UTR|RNMT_ENST00000543302.2_5'UTR|RNMT_ENST00000589866.1_5'UTR			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase						7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TTTCCTATTCTAGTGTTGGTTCATGAAGTTTTA	0.338																																					GBM(29;474 594 19092 36647 41529)	GBM(29;474 594 19092 36647 41529)	uc002ksk.1		NA																	0					0						c.e2-1		RNA (guanine-7-) methyltransferase																																				SO:0001623	5_prime_UTR_variant	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13731472_13731484delTAGTGTTGGTTCA	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.-33TAGTGTTGGTTCA>-	18.37:g.13731472_13731484delTAGTGTTGGTTCA						RNMT_uc002ksl.1_Splice_Site|RNMT_uc002ksm.1_Splice_Site|RNMT_uc010dlk.2_Splice_Site|RNMT_uc010xae.1_Intron		NM_003799	NP_003790	O43148	MCES_HUMAN			2	26	+								B0YJ90|D3DUJ5|O94996|Q9UIJ9	Splice_Site	DEL	ENST00000383314.2	37	c.-41_splice	CCDS11867.1																																																																																				0.338	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		44	38	NA	NA	NA	NA	NA	44	38	---	---	---	---
ADAMTS10	81794	broad.mit.edu	37	19	8656874	8656875	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:8656874_8656875insG	ENST00000597188.1	-	14	1970_1971	c.1700_1701insC	c.(1699-1701)gtgfs	p.V567fs	ADAMTS10_ENST00000270328.4_Frame_Shift_Ins_p.V567fs|ADAMTS10_ENST00000595838.1_Frame_Shift_Ins_p.C58fs	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	567	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TAGAAGAGGACACGCCGCCGCC	0.723																																							uc002mkj.1		NA																	0				pancreas(2)|skin(2)	4						c.(1699-1701)GTGfs		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001589	frameshift_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8656874_8656875insG	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1700_1701insC	19.37:g.8656874_8656875insG	ENSP00000471851:p.Val567fs					ADAMTS10_uc002mki.1_Frame_Shift_Ins_p.C58fs|ADAMTS10_uc002mkk.1_Frame_Shift_Ins_p.V199fs	p.V567fs	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			14	1974_1975	-			567			TSP type-1 1.		M0QZE4	Frame_Shift_Ins	INS	ENST00000597188.1	37	c.1700_1701insC	CCDS12206.1																																																																																				0.723	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		13	14	NA	NA	NA	NA	NA	13	14	---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21909726	21909726	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:21909726delC	ENST00000358296.6	-	5	1586	c.1388delG	c.(1387-1389)ggcfs	p.G463fs	ZNF100_ENST00000305570.6_Frame_Shift_Del_p.G399fs	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	463					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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGGCTTTGCCACATTCGTC	0.403																																							uc002nqi.2		NA																	0					0						c.(1387-1389)GGCfs		zinc finger protein 100							64.0	69.0	68.0					19																	21909726		2200	4296	6496	SO:0001589	frameshift_variant	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21909726delC	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1388delG	19.37:g.21909726delC	ENSP00000351042:p.Gly463fs					ZNF100_uc002nqh.2_Frame_Shift_Del_p.G399fs	p.G463fs	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	1587	-			463			C2H2-type 11.		Q7M4M0	Frame_Shift_Del	DEL	ENST00000358296.6	37	c.1388delG	CCDS42538.1																																																																																				0.403	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		20	18	NA	NA	NA	NA	NA	20	18	---	---	---	---
CD22	933	broad.mit.edu	37	19	35832490	35832499	+	Frame_Shift_Del	DEL	CTGGACACTT	CTGGACACTT	-	rs141451390|rs564128750		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	CTGGACACTT	CTGGACACTT	-	-	CTGGACACTT	CTGGACACTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr19:35832490_35832499delCTGGACACTT	ENST00000085219.5	+	8	1818_1827	c.1752_1761delCTGGACACTT	c.(1750-1761)gcctggacacttfs	p.AWTL584fs	CD22_ENST00000419549.2_Frame_Shift_Del_p.AWTL412fs|CD22_ENST00000544992.2_Frame_Shift_Del_p.AWTL584fs|CD22_ENST00000270311.6_Frame_Shift_Del_p.AWTL464fs|CD22_ENST00000594250.1_Frame_Shift_Del_p.AWTL407fs|CD22_ENST00000536635.2_Frame_Shift_Del_p.AWTL496fs|CD22_ENST00000341773.6_Frame_Shift_Del_p.AWTL407fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	584					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGTCCAAGGCCTGGACACTTGAAGTGCTGT	0.59																																					Ovarian(42;1009 1133 23674 26041)	Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NA																	0				ovary(5)|lung(3)|breast(1)	9						c.(1750-1761)GCCTGGACACTTfs		CD22 molecule precursor	OspA lipoprotein(DB00045)																																			SO:0001589	frameshift_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832490_35832499delCTGGACACTT	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1752_1761delCTGGACACTT	19.37:g.35832490_35832499delCTGGACACTT	ENSP00000085219:p.Ala584fs					CD22_uc010xst.1_Frame_Shift_Del_p.A412fs|CD22_uc010edu.2_Frame_Shift_Del_p.A496fs|CD22_uc010edv.2_Frame_Shift_Del_p.A584fs|CD22_uc002nzb.3_Frame_Shift_Del_p.A407fs|CD22_uc010edx.2_RNA	p.A584fs	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1829_1838	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		584_587			Extracellular (Potential).		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Frame_Shift_Del	DEL	ENST00000085219.5	37	c.1752_1761delCTGGACACTT	CCDS12457.1																																																																																				0.590	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		8	124	NA	NA	NA	NA	NA	8	124	---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160028721	160028721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr2:160028721delG	ENST00000263635.6	+	11	1678	c.1441delG	c.(1441-1443)gggfs	p.G481fs	TANC1_ENST00000454300.1_Frame_Shift_Del_p.G375fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	481					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AACACCTCTTGGGTCTATCAG	0.453																																							uc002uag.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1441-1443)GGGfs		tetratricopeptide repeat, ankyrin repeat and							91.0	91.0	91.0					2																	160028721		1864	4121	5985	SO:0001589	frameshift_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160028721delG	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1441delG	2.37:g.160028721delG	ENSP00000263635:p.Gly481fs					TANC1_uc010fol.1_Frame_Shift_Del_p.G375fs|TANC1_uc010zcm.1_Frame_Shift_Del_p.G473fs|TANC1_uc010fom.1_Frame_Shift_Del_p.G287fs	p.G481fs	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			11	1715	+			481					C9JD88|Q49AI8	Frame_Shift_Del	DEL	ENST00000263635.6	37	c.1441delG	CCDS42766.1																																																																																				0.453	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			32	66	NA	NA	NA	NA	NA	32	66	---	---	---	---
OSM	5008	broad.mit.edu	37	22	30660280	30660281	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr22:30660280_30660281insT	ENST00000215781.2	-	3	390_391	c.350_351insA	c.(349-351)ctcfs	p.L117fs	OSM_ENST00000403463.1_3'UTR|OSM_ENST00000403389.1_Frame_Shift_Ins_p.L96fs	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	117					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GGGCCTTGGGGAGGCGCTGCTC	0.629																																							uc003ahb.2		NA																	0				skin(1)	1						c.(349-351)CTCfs		oncostatin M precursor																																				SO:0001589	frameshift_variant	5008				cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	g.chr22:30660280_30660281insT	AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.350_351insA	22.37:g.30660280_30660281insT	ENSP00000215781:p.Leu117fs						p.L117fs	NM_020530	NP_065391	P13725	ONCM_HUMAN	Epithelial(10;0.206)		3	402_403	-			117					Q6FHP8|Q9UCP6	Frame_Shift_Ins	INS	ENST00000215781.2	37	c.350_351insA	CCDS13873.1																																																																																				0.629	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1	NM_020530		19	25	NA	NA	NA	NA	NA	19	25	---	---	---	---
VILL	50853	broad.mit.edu	37	3	38044020	38044022	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:38044020_38044022delTCT	ENST00000283713.6	+	14	1879_1881	c.1613_1615delTCT	c.(1612-1617)atcttc>atc	p.F539del	VILL_ENST00000465644.1_In_Frame_Del_p.F257del|VILL_ENST00000383759.2_In_Frame_Del_p.F539del			O15195	VILL_HUMAN	villin-like	539					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCCAGTGACATCTTCTTGCTGGT	0.571																																							uc003chj.2		NA																	0					0						c.(1612-1617)ATCTTC>ATC		villin-like protein																																				SO:0001651	inframe_deletion	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38044020_38044022delTCT		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1613_1615delTCT	3.37:g.38044023_38044025delTCT	ENSP00000283713:p.Phe539del					VILL_uc003chl.2_In_Frame_Del_p.F539del	p.F539del	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	14	1899_1901	+			539			Gelsolin-like 5.		A8MZP1|Q9BT80|Q9BWH7	In_Frame_Del	DEL	ENST00000283713.6	37	c.1613_1615delTCT	CCDS2670.2																																																																																				0.571	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		20	79	NA	NA	NA	NA	NA	20	79	---	---	---	---
SEMA3F	6405	broad.mit.edu	37	3	50225491	50225491	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:50225491delT	ENST00000002829.3	+	19	2785	c.2301delT	c.(2299-2301)cctfs	p.P767fs	SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P736fs|SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P668fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	767	Arg/Lys-rich (basic).				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCCGGTCTCCTGAGCCCCAGG	0.687																																							uc003cyj.2		NA																	0				lung(1)|skin(1)	2						c.(2299-2301)CCTfs		semaphorin 3F precursor							5.0	6.0	5.0					3																	50225491		2045	4103	6148	SO:0001589	frameshift_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50225491delT	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.2301delT	3.37:g.50225491delT	ENSP00000002829:p.Pro767fs					SEMA3F_uc003cyk.2_Frame_Shift_Del_p.P736fs	p.P767fs	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	19	2499	+			767			Arg/Lys-rich (basic).		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Frame_Shift_Del	DEL	ENST00000002829.3	37	c.2301delT	CCDS2811.1																																																																																				0.687	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
SI	6476	broad.mit.edu	37	3	164758880	164758880	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr3:164758880delA	ENST00000264382.3	-	18	2069	c.2007delT	c.(2005-2007)catfs	p.H669fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	669	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CAGGATCCTGATGCTGTGAGA	0.323										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2005-2007)CATfs		sucrase-isomaltase	Acarbose(DB00284)						92.0	97.0	95.0					3																	164758880		2202	4300	6502	SO:0001589	frameshift_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164758880delA	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2007delT	3.37:g.164758880delA	ENSP00000264382:p.His669fs	HNSCC(35;0.089)					p.H669fs	NM_001041	NP_001032	P14410	SUIS_HUMAN			18	2069	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	669			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Frame_Shift_Del	DEL	ENST00000264382.3	37	c.2007delT	CCDS3196.1																																																																																				0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		23	71	NA	NA	NA	NA	NA	23	71	---	---	---	---
MUC7	4589	broad.mit.edu	37	4	71347137	71347137	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:71347137delC	ENST00000304887.5	+	3	866	c.676delC	c.(676-678)ccafs	p.P226fs	MUC7_ENST00000413702.1_Frame_Shift_Del_p.P226fs|MUC7_ENST00000456088.1_Frame_Shift_Del_p.P226fs	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	226	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCAGCTCCACCATCTTCCTC	0.582																																							uc011cat.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(676-678)CCAfs		mucin 7, secreted precursor							436.0	368.0	391.0					4																	71347137		2203	4300	6503	SO:0001589	frameshift_variant	4589					extracellular region	protein binding	g.chr4:71347137delC	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.676delC	4.37:g.71347137delC	ENSP00000302021:p.Pro226fs					MUC7_uc011cau.1_Frame_Shift_Del_p.P226fs|MUC7_uc003hfj.2_Frame_Shift_Del_p.P226fs|uc011cav.1_Intron	p.P226fs	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	964	+			226			3.|Thr-rich.		Q9UCD7|Q9UCD8	Frame_Shift_Del	DEL	ENST00000304887.5	37	c.676delC	CCDS3541.1																																																																																				0.582	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		82	76	NA	NA	NA	NA	NA	82	76	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126242180	126242181	+	Frame_Shift_Ins	INS	-	-	CCATCAG			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr4:126242180_126242181insCCATCAG	ENST00000394329.3	+	1	4627_4628	c.4614_4615insCCATCAG	c.(4615-4617)ccafs	p.-1541fs		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4						branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGCTGCAGACCCATCAGCTGT	0.436																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4612-4617)GACCCAfs		FAT tumor suppressor homolog 4 precursor																																				SO:0001589	frameshift_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242180_126242181insCCATCAG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4615_4621dupCCATCAG	4.37:g.126242181_126242187dupCCATCAG	ENSP00000377862:p.Ala1541fs						p.D1538fs	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4614_4615	+			1538_1539			Cadherin 15.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Ins	INS	ENST00000394329.3	37	c.4614_4615insCCATCAG	CCDS3732.3																																																																																				0.436	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		20	289	NA	NA	NA	NA	NA	20	289	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130799906	130799906	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr5:130799906delC	ENST00000509018.1	-	18	2513	c.2308delG	c.(2308-2310)gacfs	p.D770fs	RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.D485fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.D770fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.D770fs|CTC-432M15.3_ENST00000514667.1_Frame_Shift_Del_p.D820fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Del_p.D770fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.D770fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.D775fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	770	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCTGTGGTGTCTTTACTGATG	0.353																																					Melanoma(168;435 1955 13113 13877 23213)	Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(2308-2310)GACfs		PDZ domain-containing guanine nucleotide							83.0	73.0	77.0					5																	130799906		2203	4300	6503	SO:0001589	frameshift_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130799906delC	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2308delG	5.37:g.130799906delC	ENSP00000421684:p.Asp770fs					RAPGEF6_uc003kvp.1_Frame_Shift_Del_p.D820fs|RAPGEF6_uc003kvo.1_Frame_Shift_Del_p.D775fs|RAPGEF6_uc010jdi.1_Frame_Shift_Del_p.D770fs|RAPGEF6_uc010jdj.1_Frame_Shift_Del_p.D770fs|RAPGEF6_uc003kvq.2_Frame_Shift_Del_p.D487fs|RAPGEF6_uc003kvr.2_Frame_Shift_Del_p.D770fs|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Frame_Shift_Del_p.D770fs	p.D770fs	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	18	2514	-			770			Ras-associating.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Frame_Shift_Del	DEL	ENST00000509018.1	37	c.2308delG	CCDS34225.1																																																																																				0.353	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		28	37	NA	NA	NA	NA	NA	28	37	---	---	---	---
IL22RA2	116379	broad.mit.edu	37	6	137479601	137479602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr6:137479601_137479602insC	ENST00000296980.2	-	3	379_380	c.79_80insG	c.(79-81)gagfs	p.E27fs	IL22RA2_ENST00000339602.3_Frame_Shift_Ins_p.E27fs|IL22RA2_ENST00000349184.4_Frame_Shift_Ins_p.E27fs	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	27	Fibronectin type-III 1.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		CTTCAGAGACTCATGCGTTGAC	0.46																																							uc003qhl.2		NA																	0					0						c.(79-81)GAGfs		interleukin 22-binding protein isoform 1																																				SO:0001589	frameshift_variant	116379				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity	g.chr6:137479601_137479602insC	AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"""Interleukins and interleukin receptors"""	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.80dupG	6.37:g.137479602_137479602dupC	ENSP00000296980:p.Glu27fs					IL22RA2_uc003qhm.2_Frame_Shift_Ins_p.E27fs|IL22RA2_uc003qhn.2_Frame_Shift_Ins_p.E27fs	p.E27fs	NM_052962	NP_443194	Q969J5	I22R2_HUMAN		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)	3	380_381	-	Colorectal(23;0.24)		27			Fibronectin type-III 1.		Q08AH7|Q6UWM1|Q96A41|Q96QR0	Frame_Shift_Ins	INS	ENST00000296980.2	37	c.79_80insG	CCDS5182.1																																																																																				0.460	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042399.1			30	112	NA	NA	NA	NA	NA	30	112	---	---	---	---
ARPC1A	10552	broad.mit.edu	37	7	98963515	98963515	+	Splice_Site	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:98963515delC	ENST00000262942.5	+	10	1200	c.1076delC	c.(1075-1077)acc>ac	p.T359fs	ARPC1A_ENST00000432884.2_Intron	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	359					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TTTTCCAAGACCCTCGAGTCT	0.577																																							uc003upx.1		NA																	0				ovary(1)	1						c.(1075-1077)ACCfs		actin related protein 2/3 complex subunit 1A							121.0	88.0	99.0					7																	98963515		2202	4294	6496	SO:0001630	splice_region_variant	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98963515delC	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.1075-1C>-	7.37:g.98963515delC						ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Frame_Shift_Del_p.T345fs|ARPC1A_uc011kit.1_Intron	p.T359fs	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		10	1223	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		359			WD 6.		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Frame_Shift_Del	DEL	ENST00000262942.5	37	c.1076delC	CCDS5660.1																																																																																				0.577	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409	Frame_Shift_Del	2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133812369	133812370	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr7:133812369_133812370insT	ENST00000285928.2	+	1	318_319	c.249_250insT	c.(250-252)gagfs	p.E84fs	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	84						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AGGGCGAGGGCGAGGCGGGATC	0.614																																							uc003vrm.1		NA																	0				lung(2)|skin(2)|kidney(1)	5						c.(247-252)GGCGAGfs		leucine-rich repeats and guanylate kinase domain																																				SO:0001589	frameshift_variant	136332						ATP binding|kinase activity	g.chr7:133812369_133812370insT	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	Exception_encountered	7.37:g.133812369_133812370insT	ENSP00000285928:p.Glu84fs						p.G83fs	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			1	265_266	+			83_84					Q2M3I1	Frame_Shift_Ins	INS	ENST00000285928.2	37	c.249_250insT	CCDS5830.1																																																																																				0.614	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		41	74	NA	NA	NA	NA	NA	41	74	---	---	---	---
TMEM64	169200	broad.mit.edu	37	8	91643913	91643913	+	Frame_Shift_Del	DEL	T	T	-	rs376429441		TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr8:91643913delT	ENST00000458549.2	-	2	995	c.818delA	c.(817-819)aacfs	p.N273fs	TMEM64_ENST00000519519.1_Frame_Shift_Del_p.N12fs|TMEM64_ENST00000418210.2_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	273					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			CATCAGATAGTTGGGTAATGA	0.383																																							uc003yen.2		NA																	0					0						c.(817-819)AACfs		transmembrane protein 64 isoform 1							116.0	108.0	111.0					8																	91643913		2203	4300	6503	SO:0001589	frameshift_variant	169200					integral to membrane		g.chr8:91643913delT	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.818delA	8.37:g.91643913delT	ENSP00000414786:p.Asn273fs					TMEM64_uc003yeo.2_Frame_Shift_Del_p.N12fs|TMEM64_uc011lgf.1_Intron	p.N273fs	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)		2	818	-			273					B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Frame_Shift_Del	DEL	ENST00000458549.2	37	c.818delA	CCDS34920.2																																																																																				0.383	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		9	192	NA	NA	NA	NA	NA	9	192	---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87342645	87342645	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:87342645delC	ENST00000323115.4	+	8	1283	c.930delC	c.(928-930)aacfs	p.N310fs	NTRK2_ENST00000395882.1_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000304053.6_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000376213.1_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.N154fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000277120.3_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.N310fs			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	310	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TGAAAGGCAACCCCAAACCAG	0.423										TSP Lung(25;0.17)																													uc004aoa.1		NA																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(928-930)AACfs		neurotrophic tyrosine kinase, receptor, type 2							89.0	91.0	91.0					9																	87342645		2203	4300	6503	SO:0001589	frameshift_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87342645delC	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.930delC	9.37:g.87342645delC	ENSP00000314586:p.Asn310fs	TSP Lung(25;0.17)				NTRK2_uc004anv.1_Frame_Shift_Del_p.N297fs|NTRK2_uc004any.1_Frame_Shift_Del_p.N310fs|NTRK2_uc004anz.1_Frame_Shift_Del_p.N310fs|NTRK2_uc011lsz.1_Frame_Shift_Del_p.N310fs|NTRK2_uc011lta.1_Frame_Shift_Del_p.N310fs|NTRK2_uc004aob.1_Frame_Shift_Del_p.N310fs|NTRK2_uc011ltb.1_Frame_Shift_Del_p.N154fs	p.N310fs	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			11	1868	+			310			Extracellular (Potential).|Ig-like C2-type 2.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Frame_Shift_Del	DEL	ENST00000323115.4	37	c.930delC	CCDS35050.1																																																																																				0.423	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			12	42	NA	NA	NA	NA	NA	12	42	---	---	---	---
TMEM246	84302	broad.mit.edu	37	9	104238293	104238293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chr9:104238293delC	ENST00000374851.1	-	4	2229	c.1082delG	c.(1081-1083)ggcfs	p.G361fs	RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Frame_Shift_Del_p.G361fs|TMEM246_ENST00000374847.1_Frame_Shift_Del_p.G361fs|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	361						integral component of membrane (GO:0016021)											CATGTCCTTGCCAAAGCCCTT	0.612																																							uc004bbm.2		NA																	0					0						c.(1081-1083)GGCfs		hypothetical protein LOC84302							74.0	68.0	70.0					9																	104238293		2203	4300	6503	SO:0001589	frameshift_variant	84302					integral to membrane		g.chr9:104238293delC	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1082delG	9.37:g.104238293delC	ENSP00000363984:p.Gly361fs					uc004bbl.1_5'Flank	p.G361fs	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN			2	1404	-		Acute lymphoblastic leukemia(62;0.0527)	361					Q49AQ4	Frame_Shift_Del	DEL	ENST00000374851.1	37	c.1082delG	CCDS6757.1																																																																																				0.612	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		11	22	NA	NA	NA	NA	NA	11	22	---	---	---	---
MAGEB2	4113	broad.mit.edu	37	X	30237448	30237448	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:30237448delG	ENST00000378988.4	+	2	852	c.751delG	c.(751-753)gatfs	p.D251fs		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	251	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.D251N(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CATCACCAAAGATCTGGTGCA	0.507																																							uc004dbz.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(1)	1						c.(751-753)GATfs		melanoma antigen family B, 2							59.0	53.0	55.0					X																	30237448		2202	4300	6502	SO:0001589	frameshift_variant	4113						protein binding	g.chrX:30237448delG	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.751delG	X.37:g.30237448delG	ENSP00000368273:p.Asp251fs						p.D251fs	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	854	+			251			MAGE.		O75860	Frame_Shift_Del	DEL	ENST00000378988.4	37	c.751delG	CCDS14219.1																																																																																				0.507	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		19	38	NA	NA	NA	NA	NA	19	38	---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53245063	53245063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4390-01A-02D-1753-08	TCGA-05-4390-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d0854b5b-69be-4b84-aa37-ecdd0bc14de9	b9b0fda8-ff98-4d0b-905d-38d9464cd3ab	g.chrX:53245063delC	ENST00000375401.3	-	7	1409	c.877delG	c.(877-879)gagfs	p.E293fs	KDM5C_ENST00000404049.3_Frame_Shift_Del_p.E292fs|KDM5C_ENST00000452825.3_Frame_Shift_Del_p.E226fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.E293fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.E252fs|KDM5C-IT1_ENST00000412242.1_RNA	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	293					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCCTTGCTCTCCAGGAAGGTC	0.572			"""N, F, S"""		clear cell renal carcinoma																																		uc004drz.2		NA		Rec	yes		X	Xp11.22-p11.21	8242	N|F|S	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						c.(877-879)GAGfs		jumonji, AT rich interactive domain 1C isoform							225.0	162.0	183.0					X																	53245063		2203	4300	6503	SO:0001589	frameshift_variant	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53245063delC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.877delG	X.37:g.53245063delC	ENSP00000364550:p.Glu293fs					KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Frame_Shift_Del_p.E226fs|KDM5C_uc004dsa.2_Frame_Shift_Del_p.E292fs	p.E293fs	NM_004187	NP_004178	P41229	KDM5C_HUMAN			7	1410	-			293					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	c.877delG	CCDS14351.1																																																																																				0.572	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		36	70	NA	NA	NA	NA	NA	36	70	---	---	---	---
